Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ABCD4 CL E G H | 5826 | 68 | OMIM:614857 | Methylmalonic aciduria and homocystinuria, Cblj type | | | | 53 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ABL1 CL E G H | 25 | 76 | ORPHA:521 | Chronic myeloid leukemia | | | | 51 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ACAT1 CL E G H | 38 | 93 | ORPHA:134 | Beta-ketothiolase deficiency | | | | 91 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | | | | 16 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ADA CL E G H | 100 | 186 | ORPHA:39041 | Omenn syndrome | | | | 75 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ADA CL E G H | 100 | 186 | ORPHA:277 | Severe combined immunodeficiency due to adenosine deaminase deficiency | | | | 75 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ADA CL E G H | 100 | 186 | OMIM:102700 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | | | | 75 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:182410 | Sneddon syndrome | | | | 22 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ADAMTS3 CL E G H | 9508 | 219 | ORPHA:2136 | Hennekam syndrome | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ADH5 CL E G H | 128 | 253 | OMIM:619151 | AMED SYNDROME, DIGENIC; AMEDS | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | AGA CL E G H | 175 | 318 | OMIM:208400 | ASPARTYLGLUCOSAMINURIA | | | | 76 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | AK2 CL E G H | 204 | 362 | OMIM:267500 | Reticular dysgenesia | | | | 19 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | AK2 CL E G H | 204 | 362 | ORPHA:33355 | Reticular dysgenesis | | | | 19 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | | | | 68 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | AMN CL E G H | 81693 | 14604 | ORPHA:35858 | Imerslund-Gräsbeck syndrome | | | | 25 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ANAPC1 CL E G H | 64682 | 19988 | ORPHA:221008 | Rothmund-Thomson syndrome type 1 | | | | 2 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ANKRD26 CL E G H | 22852 | 29186 | OMIM:188000 | THROMBOCYTOPENIA 2; THC2 | | | | 106 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | AP3D1 CL E G H | 8943 | 568 | OMIM:617050 | HERMANSKY-PUDLAK SYNDROME 10; HPS10 | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ARHGAP31 CL E G H | 57514 | 29216 | ORPHA:974 | Adams-Oliver syndrome | | | | 147 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ARHGEF1 CL E G H | 9138 | 681 | OMIM:618459 | Immunodeficiency 62 | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ARPC1B CL E G H | 10095 | 704 | OMIM:617718 | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 145 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | | | | 145 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ATM CL E G H | 472 | 795 | ORPHA:100 | Ataxia-telangiectasia | | | | 3267 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | | | | 3267 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ATP11A CL E G H | 23250 | 13552 | OMIM:619851 | LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24 | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ATP6AP1 CL E G H | 537 | 868 | OMIM:300972 | IMMUNODEFICIENCY 47; IMD47 | | | | 5 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:301045 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R | | | | 36 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ATRX CL E G H | 546 | 886 | ORPHA:231401 | Alpha-thalassemia-myelodysplastic syndrome | | | | 169 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | B2M CL E G H | 567 | 914 | OMIM:241600 | Immunodeficiency 43 | | | | 8 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | BACH2 CL E G H | 60468 | 14078 | OMIM:618394 | IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60 | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | BCL10 CL E G H | 8915 | 989 | OMIM:616098 | IMMUNODEFICIENCY 37; IMD37 | | | | 18 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | BCL11B CL E G H | 64919 | 13222 | OMIM:617237 | Immunodeficiency 49 | | | | 3 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | BCL11B CL E G H | 64919 | 13222 | OMIM:618092 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES | | | | 3 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:520 | Acute promyelocytic leukemia | | | | 101 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | BCR CL E G H | 613 | 1014 | ORPHA:521 | Chronic myeloid leukemia | | | | 5 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | | | | 314 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | BLNK CL E G H | 29760 | 14211 | OMIM:613502 | Agammaglobulinemia 4, autosomal recessive | | | | 4 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | BLNK CL E G H | 29760 | 14211 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 4 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | BLOC1S6 CL E G H | 26258 | 8549 | OMIM:614171 | Hermansky-Pudlak syndrome 9 | | | | 35 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | | | | 5769 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | | | | 7642 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | | | | 1086 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | BTK CL E G H | 695 | 1133 | OMIM:300755 | Agammaglobulinemia, X-linked | | | | 109 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | BTK CL E G H | 695 | 1133 | OMIM:307200 | Isolated growth hormone deficiency, type III, with agammaglobulinemia | | | | 109 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | BTK CL E G H | 695 | 1133 | ORPHA:47 | X-linked agammaglobulinemia | | | | 109 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CA2 CL E G H | 760 | 1373 | ORPHA:2785 | Osteopetrosis with renal tubular acidosis | | | | 29 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CALR CL E G H | 811 | 1455 | ORPHA:824 | Primary myelofibrosis | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CAMK2B CL E G H | 816 | 1461 | OMIM:617799 | Mental retardation, autosomal dominant 54 | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CAPN3 CL E G H | 825 | 1480 | OMIM:253600 | Muscular dystrophy, limb-girdle, type 2A | | | | 323 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CARD10 CL E G H | 29775 | 16422 | OMIM:619632 | IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89 | | | | 5 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CARD11 CL E G H | 84433 | 16393 | OMIM:616452 | B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA | | | | 45 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CARD11 CL E G H | 84433 | 16393 | OMIM:615206 | Card11 immunodeficiency | | | | 45 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CARD11 CL E G H | 84433 | 16393 | OMIM:617638 | Immunodeficiency 11B with atopic dermatitis | | | | 45 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CARD9 CL E G H | 64170 | 16391 | OMIM:212050 | Candidiasis, familial chronic mucocutaneous, autosomal recessive | | | | 45 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CASK CL E G H | 8573 | 1497 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | | | | 118 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 87 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | | | | 87 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CASP8 CL E G H | 841 | 1509 | OMIM:607271 | CASPASE 8 DEFICIENCY | | | | 37 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CASR CL E G H | 846 | 1514 | ORPHA:676 | Hereditary chronic pancreatitis | | | | 272 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CBL CL E G H | 867 | 1541 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 317 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CCBE1 CL E G H | 147372 | 29426 | ORPHA:2136 | Hennekam syndrome | | | | 147 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CD19 CL E G H | 930 | 1633 | ORPHA:1572 | Common variable immunodeficiency | | | | 38 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CD19 CL E G H | 930 | 1633 | OMIM:613493 | IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3 | | | | 38 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CD247 CL E G H | 919 | 1677 | OMIM:610163 | IMMUNODEFICIENCY 25; IMD25 | | | | 8 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 8 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CD3D CL E G H | 915 | 1673 | OMIM:615617 | Immunodeficiency 19 | | | | 18 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 18 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CD3E CL E G H | 916 | 1674 | OMIM:615615 | Immunodeficiency 18 | | | | 24 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 24 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | | | | 19 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CD4 CL E G H | 920 | 1678 | OMIM:619238 | IMMUNODEFICIENCY 79; IMD79 | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CD40 CL E G H | 958 | 11919 | OMIM:606843 | Immunodeficiency with hyper-igm, type 3 | | | | 27 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CD40LG CL E G H | 959 | 11935 | OMIM:308230 | Immunodeficiency, X-linked, with hyper-IgM | | | | 33 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CD79A CL E G H | 973 | 1698 | OMIM:613501 | Agammaglobulinemia 3, autosomal recessive | | | | 9 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CD79A CL E G H | 973 | 1698 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 9 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CD79B CL E G H | 974 | 1699 | OMIM:612692 | Agammaglobulinemia 6, autosomal recessive | | | | 6 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CD79B CL E G H | 974 | 1699 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 6 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CD81 CL E G H | 975 | 1701 | ORPHA:1572 | Common variable immunodeficiency | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CD8A CL E G H | 925 | 1706 | OMIM:608957 | Cd8 deficiency, familial | | | | 4 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CDC40 CL E G H | 51362 | 17350 | OMIM:619302 | PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15 | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CDCA7 CL E G H | 83879 | 14628 | ORPHA:2268 | ICF syndrome | | | | 4 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CDSN CL E G H | 1041 | 1802 | OMIM:270300 | Peeling skin syndrome 1 | | | | 7 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CFTR CL E G H | 1080 | 1884 | ORPHA:676 | Hereditary chronic pancreatitis | | | | 1371 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:39041 | Omenn syndrome | | | | 515 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CIITA CL E G H | 4261 | 7067 | OMIM:209920 | Bare lymphocyte syndrome, type II | | | | 118 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CIITA CL E G H | 4261 | 7067 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 118 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CLPB CL E G H | 81570 | 30664 | ORPHA:445038 | 3-methylglutaconic aciduria type 7 | | | | 38 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CLPB CL E G H | 81570 | 30664 | OMIM:616271 | 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | | | | 38 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CLPB CL E G H | 81570 | 30664 | OMIM:619835 | 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A | | | | 38 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CLPB CL E G H | 81570 | 30664 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 38 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | COG4 CL E G H | 25839 | 18620 | OMIM:618150 | Saul-Wilson syndrome | | | | 67 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CORO1A CL E G H | 11151 | 2252 | OMIM:615401 | Immunodeficiency 8 | | | | 7 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CPA1 CL E G H | 1357 | 2296 | ORPHA:676 | Hereditary chronic pancreatitis | | | | 5 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CR2 CL E G H | 1380 | 2336 | ORPHA:1572 | Common variable immunodeficiency | | | | 10 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CSF3R CL E G H | 1441 | 2439 | OMIM:617014 | Neutropenia, severe congenital, 7, autosomal recessive | | | | 34 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CSF3R CL E G H | 1441 | 2439 | OMIM:162830 | Neutrophilia, hereditary | | | | 34 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CTLA4 CL E G H | 1493 | 2505 | OMIM:616100 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5 | | | | 10 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CTLA4 CL E G H | 1493 | 2505 | OMIM:152700 | Systemic lupus erythematosus | | | | 10 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CTNNBL1 CL E G H | 56259 | 15879 | OMIM:619846 | | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CTPS1 CL E G H | 1503 | 2519 | OMIM:615897 | IMMUNODEFICIENCY 24; IMD24 | | | | 2 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CTRC CL E G H | 11330 | 2523 | ORPHA:676 | Hereditary chronic pancreatitis | | | | 39 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CUBN CL E G H | 8029 | 2548 | ORPHA:35858 | Imerslund-Gräsbeck syndrome | | | | 273 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CXCR2 CL E G H | 3579 | 6027 | OMIM:619407 | WHIM SYNDROME 2; WHIMS2 | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CXCR4 CL E G H | 7852 | 2561 | OMIM:193670 | Whim syndrome | | | | 9 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CXCR4 CL E G H | 7852 | 2561 | ORPHA:51636 | WHIM syndrome | | | | 9 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | CYBC1 CL E G H | 79415 | 28672 | OMIM:618935 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5 | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:603554 | Omenn syndrome | | | | 94 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:39041 | Omenn syndrome | | | | 94 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:275 | Severe combined immunodeficiency due to DCLRE1C deficiency | | | | 94 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:602450 | Severe combined immunodeficiency with sensitivity to ionizing radiation | | | | 94 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | DDX41 CL E G H | 51428 | 18674 | OMIM:616871 | Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to | | | | 23 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | DKC1 CL E G H | 1736 | 2890 | OMIM:305000 | Dyskeratosis congenita, X-linked | | | | 65 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | DLL4 CL E G H | 54567 | 2910 | ORPHA:974 | Adams-Oliver syndrome | | | | 9 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 5 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | 5 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | DNASE1 CL E G H | 1773 | 2956 | OMIM:152700 | Systemic lupus erythematosus | | | | 3 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | DNMT3B CL E G H | 1789 | 2979 | ORPHA:2268 | ICF syndrome | | | | 79 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | DNMT3B CL E G H | 1789 | 2979 | OMIM:242860 | Immunodeficiency-Centromeric instability-facial anomalies syndrome | | | | 79 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | | | | 6 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | DOCK6 CL E G H | 57572 | 19189 | ORPHA:974 | Adams-Oliver syndrome | | | | 18 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | DOCK8 CL E G H | 81704 | 19191 | ORPHA:217390 | Combined immunodeficiency due to DOCK8 deficiency | | | | 217 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | | | | 217 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | EFL1 CL E G H | 79631 | 25789 | OMIM:617941 | Shwachman-Diamond syndrome 2 | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | | | | 65 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ELANE CL E G H | 1991 | 3309 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 79 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ELANE CL E G H | 1991 | 3309 | OMIM:162800 | Cyclic neutropenia | | | | 79 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ELANE CL E G H | 1991 | 3309 | ORPHA:2686 | Cyclic neutropenia | | | | 79 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ELANE CL E G H | 1991 | 3309 | OMIM:202700 | Neutropenia, severe congenital, 1, autosomal dominant | | | | 79 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ELF4 CL E G H | 2000 | 3319 | OMIM:301074 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2 | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | EOGT CL E G H | 285203 | 28526 | ORPHA:974 | Adams-Oliver syndrome | | | | 4 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | | | | 106 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | | | | 54 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | | | | 158 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ERCC6L2 CL E G H | 375748 | 26922 | OMIM:615715 | Bone marrow failure syndrome 2 | | | | 4 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ETV6 CL E G H | 2120 | 3495 | OMIM:616216 | Thrombocytopenia 5 | | | | 13 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | EXTL3 CL E G H | 2137 | 3518 | OMIM:617425 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | | | | 3 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | | | | 3 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | | | | 340 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FANCA CL E G H | 2175 | 3582 | OMIM:227650 | Fanconi anemia | | | | 340 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | | | | 58 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | | | | 410 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FANCC CL E G H | 2176 | 3584 | OMIM:227645 | Fanconi anemia, complementation group C | | | | 410 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | | | | 147 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | | | | 73 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FANCE CL E G H | 2178 | 3586 | OMIM:600901 | Fanconi anemia, complementation group E | | | | 73 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | | | | 87 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FANCF CL E G H | 2188 | 3587 | OMIM:603467 | FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF | | | | 87 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | | | | 73 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FANCG CL E G H | 2189 | 3588 | OMIM:614082 | FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG | | | | 73 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | | | | 157 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FANCI CL E G H | 55215 | 25568 | OMIM:609053 | Fanconi anemia, complementation group I | | | | 157 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | | | | 53 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | | | | 107 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FAS CL E G H | 355 | 11920 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FASLG CL E G H | 356 | 11936 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FAT4 CL E G H | 79633 | 23109 | ORPHA:2136 | Hennekam syndrome | | | | 114 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FBXL4 CL E G H | 26235 | 13601 | OMIM:615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | | | | 384 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FBXW7 CL E G H | 55294 | 16712 | OMIM:620012 | | | | | 22 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FCGR2A CL E G H | 2212 | 3616 | OMIM:152700 | Systemic lupus erythematosus | | | | 6 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FCGR2B CL E G H | 2213 | 3618 | OMIM:152700 | Systemic lupus erythematosus | | | | 2 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FCGR3B CL E G H | 2215 | 3620 | ORPHA:464370 | Neonatal alloimmune neutropenia | | | | 5 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FCHO1 CL E G H | 23149 | 29002 | OMIM:619164 | IMMUNODEFICIENCY 76; IMD76 | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FDX2 CL E G H | 112812 | 30546 | OMIM:251900 | Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FERMT3 CL E G H | 83706 | 23151 | OMIM:612840 | Leukocyte adhesion deficiency, type III | | | | 23 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FIBP CL E G H | 9158 | 3705 | ORPHA:500095 | Tall stature-intellectual disability-renal anomalies syndrome | | | | 2 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FIP1L1 CL E G H | 81608 | 19124 | ORPHA:520 | Acute promyelocytic leukemia | | | | 4 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FMO3 CL E G H | 2328 | 3771 | OMIM:602079 | Trimethylaminuria | | | | 55 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FNIP1 CL E G H | 96459 | 29418 | OMIM:619705 | IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93 | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FOXN1 CL E G H | 8456 | 12765 | ORPHA:169095 | Severe combined immunodeficiency due to FOXN1 deficiency | | | | 54 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FOXN1 CL E G H | 8456 | 12765 | OMIM:601705 | T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY | | | | 54 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FOXN1 CL E G H | 8456 | 12765 | OMIM:618806 | T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND | | | | 54 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | | | | 32 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FOXP3 CL E G H | 50943 | 6106 | OMIM:304790 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | | | | 32 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | FUT8 CL E G H | 2530 | 4019 | OMIM:618005 | Congenital disorder of glycosylation with defective fucosylation 1 | | | | 3 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | | | | 37 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | G6PD CL E G H | 2539 | 4057 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | | | | 101 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | GATA1 CL E G H | 2623 | 4170 | OMIM:300835 | Anemia, X-linked, with or without neutropenia and/or platelet abnormalities | | | | 29 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | | | | 29 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | | | | 29 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | GATA2 CL E G H | 2624 | 4171 | ORPHA:3226 | Deafness-lymphedema-leukemia syndrome | | | | 137 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | GATA2 CL E G H | 2624 | 4171 | OMIM:614172 | Immunodeficiency 21 | | | | 137 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | GATA2 CL E G H | 2624 | 4171 | OMIM:614038 | Lymphedema, primary, with myelodysplasia | | | | 137 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | GATA2 CL E G H | 2624 | 4171 | ORPHA:98827 | Unclassified myelodysplastic syndrome | | | | 137 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77259 | Gaucher disease type 1 | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | GFI1 CL E G H | 2672 | 4237 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 56 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | GFI1 CL E G H | 2672 | 4237 | OMIM:607847 | Neutropenia, nonimmune chronic idiopathic, of adults | | | | 56 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | GFI1 CL E G H | 2672 | 4237 | OMIM:613107 | Neutropenia, severe congenital, 2, autosomal dominant | | | | 56 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | GINS1 CL E G H | 9837 | 28980 | OMIM:617827 | Immunodeficiency 55 | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | GSS CL E G H | 2937 | 4624 | OMIM:266130 | Glutathione synthetase deficiency | | | | 39 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | | | | 2 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | GTF2H5 CL E G H | 404672 | 21157 | OMIM:616395 | Trichothiodystrophy 3, photosensitive | | | | 3 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | HAX1 CL E G H | 10456 | 16915 | OMIM:610738 | NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3 | | | | 32 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231222 | Beta-thalassemia intermedia | | | | 580 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | HBB CL E G H | 3043 | 4827 | OMIM:603903 | Sickle cell anemia | | | | 580 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:232 | Sickle cell anemia | | | | 580 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | HELLS CL E G H | 3070 | 4861 | ORPHA:2268 | ICF syndrome | | | | 6 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:133 | Chronic beryllium disease | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | | | | 2 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | HMGCL CL E G H | 3155 | 5005 | ORPHA:20 | 3-hydroxy-3-methylglutaric aciduria | | | | 35 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | HSCB CL E G H | 150274 | 28913 | OMIM:619523 | ANEMIA, SIDEROBLASTIC, 5; SIDBA5 | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | HTRA2 CL E G H | 27429 | 14348 | OMIM:617248 | 3-methylglutaconic aciduria, type VIII | | | | 39 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | HYOU1 CL E G H | 10525 | 16931 | OMIM:233600 | Immunodeficiency 59 and hypoglycemia | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ICOS CL E G H | 29851 | 5351 | ORPHA:1572 | Common variable immunodeficiency | | | | 32 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | | | | 32 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:619773 | IMMUNODEFICIENCY 95; IMD95 | | | | 28 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IFNG CL E G H | 3458 | 5438 | ORPHA:88 | Idiopathic aplastic anemia | | | | 23 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IFNG CL E G H | 3458 | 5438 | OMIM:618963 | IMMUNODEFICIENCY 69; IMD69 | | | | 23 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IFNGR1 CL E G H | 3459 | 5439 | OMIM:209950 | Immunodeficiency 27A, mycobacteriosis, AR | | | | 60 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IGHM CL E G H | 3507 | 5541 | OMIM:601495 | Agammaglobulinemia 1, autosomal recessive | | | | 7 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IGHM CL E G H | 3507 | 5541 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 7 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IGLL1 CL E G H | 3543 | 5870 | OMIM:613500 | Agammaglobulinemia 2, autosomal recessive | | | | 3 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IGLL1 CL E G H | 3543 | 5870 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 3 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:301081 | | | | | 52 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | | | | 52 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | | | | 52 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IKZF1 CL E G H | 10320 | 13176 | OMIM:616873 | IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13 | | | | 8 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IKZF3 CL E G H | 22806 | 13178 | OMIM:619437 | IMMUNODEFICIENCY 84; IMD84 | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IL1RN CL E G H | 3557 | 6000 | OMIM:612852 | Interleukin 1 receptor antagonist deficiency | | | | 40 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IL21 CL E G H | 59067 | 6005 | OMIM:615767 | IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11 | | | | 3 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IL2RB CL E G H | 3560 | 6009 | OMIM:618495 | Immunodeficiency 63 with lymphoproliferation and autoimmunity | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IL2RG CL E G H | 3561 | 6010 | OMIM:312863 | Combined immunodeficiency, X-linked | | | | 48 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IL2RG CL E G H | 3561 | 6010 | ORPHA:39041 | Omenn syndrome | | | | 48 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IL2RG CL E G H | 3561 | 6010 | OMIM:300400 | Severe combined immunodeficiency, X-linked | | | | 48 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | | | | 48 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IL36RN CL E G H | 26525 | 15561 | OMIM:614204 | PSORIASIS 14, PUSTULAR; PSORS14 | | | | 51 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IL37 CL E G H | 27178 | 15563 | OMIM:619398 | INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31 | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IL6R CL E G H | 3570 | 6019 | OMIM:618944 | HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5 | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:619752 | HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:618523 | HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IL7 CL E G H | 3574 | 6023 | OMIM:618309 | EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5 | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IL7R CL E G H | 3575 | 6024 | ORPHA:39041 | Omenn syndrome | | | | 94 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IL7R CL E G H | 3575 | 6024 | OMIM:608971 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive | | | | 94 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | | | | 94 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IRAK1 CL E G H | 3654 | 6112 | ORPHA:93552 | Pediatric systemic lupus erythematosus | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IRAK4 CL E G H | 51135 | 17967 | OMIM:607676 | Immunodeficiency 67 | | | | 58 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IRAK4 CL E G H | 51135 | 17967 | ORPHA:70592 | Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency | | | | 58 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:520 | Acute promyelocytic leukemia | | | | 4 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:1572 | Common variable immunodeficiency | | | | 4 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IRF2BP2 CL E G H | 359948 | 21729 | OMIM:617765 | IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14 | | | | 4 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IRF8 CL E G H | 3394 | 5358 | OMIM:226990 | Immunodeficiency 32B | | | | 5 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ISCU CL E G H | 23479 | 29882 | OMIM:255125 | Myopathy with exercise intolerance, Swedish type | | | | 19 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ITCH CL E G H | 83737 | 13890 | ORPHA:228426 | Syndromic multisystem autoimmune disease due to Itch deficiency | | | | 3 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ITGB2 CL E G H | 3689 | 6155 | OMIM:116920 | Leukocyte adhesion deficiency, type I | | | | 114 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ITK CL E G H | 3702 | 6171 | OMIM:613011 | LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1 | | | | 51 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IVD CL E G H | 3712 | 6186 | OMIM:243500 | Isovaleric acidemia | | | | 105 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | JAGN1 CL E G H | 84522 | 26926 | OMIM:616022 | Neutropenia, severe congenital, 6, autosomal recessive | | | | 8 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | JAK1 CL E G H | 3716 | 6190 | OMIM:618999 | AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE | | | | 12 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | JAK2 CL E G H | 3717 | 6192 | OMIM:263300 | Polycythemia vera | | | | 57 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:824 | Primary myelofibrosis | | | | 57 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | JAK3 CL E G H | 3718 | 6193 | OMIM:600802 | Scid, autosomal recessive, T-Negative/b-Positive type | | | | 140 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | | | | 140 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | | | | 327 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | | | | 196 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | LACC1 CL E G H | 144811 | 26789 | OMIM:618795 | JUVENILE ARTHRITIS; JUVAR | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | LAMTOR2 CL E G H | 28956 | 29796 | OMIM:610798 | Immunodeficiency due to defect in mapbp-interacting protein | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | LAMTOR2 CL E G H | 28956 | 29796 | ORPHA:90023 | Primary immunodeficiency syndrome due to LAMTOR2 deficiency | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | LAT CL E G H | 27040 | 18874 | OMIM:617514 | Immunodeficiency 52 | | | | 2 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | LBR CL E G H | 3930 | 6518 | OMIM:169400 | Pelger-Huet anomaly | | | | 70 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | LCK CL E G H | 3932 | 6524 | OMIM:615758 | Immunodeficiency 22 | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | | | | 47 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | | | | 46 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | LIG1 CL E G H | 3978 | 6598 | OMIM:619774 | IMMUNODEFICIENCY 96; IMD96 | | | | 9 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:99812 | LIG4 syndrome | | | | 88 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:39041 | Omenn syndrome | | | | 88 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | LIPA CL E G H | 3988 | 6617 | OMIM:278000 | Lysosomal acid lipase deficiency | | | | 73 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | LMBRD1 CL E G H | 55788 | 23038 | ORPHA:79284 | Methylmalonic acidemia with homocystinuria type cblF | | | | 46 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | LMBRD1 CL E G H | 55788 | 23038 | OMIM:277380 | Methylmalonic aciduria and homocystinuria, Cblf type | | | | 46 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | LMNB2 CL E G H | 84823 | 6638 | ORPHA:79087 | Acquired partial lipodystrophy | | | | 11 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | LPIN2 CL E G H | 9663 | 14450 | ORPHA:77297 | Majeed syndrome | | | | 186 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | LRRC8A CL E G H | 56262 | 19027 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 3 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | | | | 239 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | LYST CL E G H | 1130 | 1968 | OMIM:214500 | Chediak-Higashi syndrome | | | | 239 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | MAD2L2 CL E G H | 10459 | 6764 | OMIM:617243 | Fanconi anemia, complementation group V | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | MAGT1 CL E G H | 84061 | 28880 | OMIM:300853 | IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN | | | | 17 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | MCM10 CL E G H | 55388 | 18043 | OMIM:619313 | IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80 | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | MDM4 CL E G H | 4194 | 6974 | OMIM:618849 | BONE MARROW FAILURE SYNDROME 6; BMFS6 | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | MECOM CL E G H | 2122 | 3498 | OMIM:616738 | RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2 | | | | 4 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | MEFV CL E G H | 4210 | 6998 | OMIM:249100 | Familial Mediterranean fever, AR | | | | 281 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:3243 | Sweet syndrome | | | | 281 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | | | | 14 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | MMAA CL E G H | 166785 | 18871 | OMIM:251100 | Methylmalonic aciduria, Cbla type | | | | 113 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | MMAB CL E G H | 326625 | 19331 | OMIM:251110 | Methylmalonic aciduria, Cblb type | | | | 127 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | | | | 101 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | MMACHC CL E G H | 25974 | 24525 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | | | | 101 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | MMUT CL E G H | 4594 | 7526 | OMIM:251000 | Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | MMUT CL E G H | 4594 | 7526 | ORPHA:79312 | Vitamin B12-unresponsive methylmalonic acidemia type mut- | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | MMUT CL E G H | 4594 | 7526 | ORPHA:289916 | Vitamin B12-unresponsive methylmalonic acidemia type mut0 | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:824 | Primary myelofibrosis | | | | 97 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | | | | 9 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | MS4A1 CL E G H | 931 | 7315 | ORPHA:1572 | Common variable immunodeficiency | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | MSN CL E G H | 4478 | 7373 | OMIM:300988 | Immunodeficiency 50 | | | | 2 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | MTHFD1 CL E G H | 4522 | 7432 | OMIM:617780 | Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | | | | 5 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | MTRR CL E G H | 4552 | 7473 | ORPHA:2169 | Methylcobalamin deficiency type cblE | | | | 88 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | MVK CL E G H | 4598 | 7530 | OMIM:260920 | Hyper-Igd syndrome | | | | 150 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | MVK CL E G H | 4598 | 7530 | OMIM:610377 | Mevalonic aciduria | | | | 150 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | MYC CL E G H | 4609 | 7553 | ORPHA:543 | Burkitt lymphoma | | | | 11 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | MYD88 CL E G H | 4615 | 7562 | OMIM:612260 | MYD88 DEFICIENCY; MYD88D | | | | 9 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | MYSM1 CL E G H | 114803 | 29401 | OMIM:618116 | Bone marrow failure syndrome 4 | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | MYSM1 CL E G H | 114803 | 29401 | ORPHA:508542 | Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | NABP1 CL E G H | 64859 | 26232 | ORPHA:520 | Acute promyelocytic leukemia | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | NBN CL E G H | 4683 | 7652 | OMIM:251260 | Nijmegen breakage syndrome | | | | 706 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | NCKAP1L CL E G H | 3071 | 4862 | OMIM:618982 | IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72 | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | NDUFA6 CL E G H | 4700 | 7690 | OMIM:618253 | Mitochondrial complex I deficiency, nuclear type 33 | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | NFKB1 CL E G H | 4790 | 7794 | ORPHA:1572 | Common variable immunodeficiency | | | | 7 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:1572 | Common variable immunodeficiency | | | | 11 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | | | | 11 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | NHEJ1 CL E G H | 79840 | 25737 | ORPHA:169079 | Cernunnos-XLF deficiency | | | | 20 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | NHLRC2 CL E G H | 374354 | 24731 | OMIM:618278 | Fibrosis, neurodegeneration, and cerebral angiomatosis | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | NLRP1 CL E G H | 22861 | 14374 | OMIM:617388 | AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK | | | | 37 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | NLRP12 CL E G H | 91662 | 22938 | OMIM:611762 | Familial cold autoinflammatory syndrome 2 | | | | 99 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:1451 | CINCA syndrome | | | | 217 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:607115 | CINCA SYNDROME; CINCA | | | | 217 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:120100 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1 | | | | 217 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:191900 | Muckle-Wells syndrome | | | | 217 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | NOTCH1 CL E G H | 4851 | 7881 | ORPHA:974 | Adams-Oliver syndrome | | | | 452 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:520 | Acute promyelocytic leukemia | | | | 12 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | | | | 102 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | NSMCE3 CL E G H | 56160 | 7677 | OMIM:617241 | LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS | | | | 2 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | NUMA1 CL E G H | 4926 | 8059 | ORPHA:520 | Acute promyelocytic leukemia | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | OAS1 CL E G H | 4938 | 8086 | OMIM:618042 | Pulmonary alveolar proteinosis with hypogammaglobulinemia | | | | 2 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | OSTM1 CL E G H | 28962 | 21652 | OMIM:259720 | Osteopetrosis, autosomal recessive 5 | | | | 73 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | OTULIN CL E G H | 90268 | 25118 | OMIM:617099 | AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS | | | | 3 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PACS2 CL E G H | 23241 | 23794 | OMIM:618067 | Epileptic encephalopathy, early infantile, 66 | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:84 | Fanconi anemia | | | | 1349 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PCCA CL E G H | 5095 | 8653 | OMIM:606054 | Propionic acidemia | | | | 96 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PCCB CL E G H | 5096 | 8654 | OMIM:606054 | Propionic acidemia | | | | 92 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PDGFRA CL E G H | 5156 | 8803 | OMIM:607685 | Hypereosinophilic syndrome, idiopathic | | | | 337 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:131440 | Myeloproliferative disorder, chronic, with eosinophilia | | | | 28 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PGM3 CL E G H | 5238 | 8907 | OMIM:615816 | Immunodeficiency 23 | | | | 15 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | | | | 15 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PI4KA CL E G H | 5297 | 8983 | OMIM:619708 | GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2 | | | | 11 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PIGA CL E G H | 5277 | 8957 | ORPHA:447 | Paroxysmal nocturnal hemoglobinuria | | | | 46 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PIK3CD CL E G H | 5293 | 8977 | OMIM:615513 | IMMUNODEFICIENCY 14; IMD14 | | | | 9 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PIK3CD CL E G H | 5293 | 8977 | OMIM:619281 | IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B | | | | 9 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:615214 | Agammaglobulinemia 7, autosomal recessive | | | | 43 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 43 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | | | | 43 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:53035 | Caroli disease | | | | 563 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PLCG2 CL E G H | 5336 | 9066 | OMIM:614878 | Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated | | | | 21 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PML CL E G H | 5371 | 9113 | ORPHA:520 | Acute promyelocytic leukemia | | | | 3 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PNP CL E G H | 4860 | 7892 | OMIM:613179 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | | | | 52 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PNP CL E G H | 4860 | 7892 | ORPHA:760 | Purine nucleoside phosphorylase deficiency | | | | 52 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | POMP CL E G H | 51371 | 20330 | OMIM:618048 | Proteasome-Associated autoinflammatory syndrome 2 | | | | 2 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PPIL1 CL E G H | 51645 | 9260 | OMIM:619301 | PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14 | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PRDX1 CL E G H | 5052 | 9352 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PRF1 CL E G H | 5551 | 9360 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 58 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | | | | 58 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PRF1 CL E G H | 5551 | 9360 | ORPHA:88 | Idiopathic aplastic anemia | | | | 58 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PRIM1 CL E G H | 5557 | 9369 | OMIM:620005 | | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:520 | Acute promyelocytic leukemia | | | | 134 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 10 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:1572 | Common variable immunodeficiency | | | | 10 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PRSS1 CL E G H | 5644 | 9475 | ORPHA:676 | Hereditary chronic pancreatitis | | | | 51 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PRSS2 CL E G H | 5645 | 9483 | ORPHA:676 | Hereditary chronic pancreatitis | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PSMB4 CL E G H | 5692 | 9541 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PSMB9 CL E G H | 5698 | 9546 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PTEN CL E G H | 5728 | 9588 | OMIM:158350 | Cowden syndrome 1 | | | | 948 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PTEN CL E G H | 5728 | 9588 | OMIM:605309 | Macrocephaly/autism syndrome | | | | 948 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PTPN22 CL E G H | 26191 | 9652 | OMIM:152700 | Systemic lupus erythematosus | | | | 3 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | PTPRC CL E G H | 5788 | 9666 | OMIM:619924 | | | | | 25 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RAB27A CL E G H | 5873 | 9766 | ORPHA:79477 | Griscelli syndrome type 2 | | | | 67 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RAC2 CL E G H | 5880 | 9802 | OMIM:618987 | IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C | | | | 9 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RAC2 CL E G H | 5880 | 9802 | ORPHA:183707 | Neutrophil immunodeficiency syndrome | | | | 9 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RAC2 CL E G H | 5880 | 9802 | OMIM:608203 | NEUTROPHIL IMMUNODEFICIENCY SYNDROME | | | | 9 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:84 | Fanconi anemia | | | | 9 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RAD51C CL E G H | 5889 | 9820 | ORPHA:84 | Fanconi anemia | | | | 391 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RAG1 CL E G H | 5896 | 9831 | OMIM:233650 | Combined cellular and humoral immune defects with granulomas | | | | 127 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RAG1 CL E G H | 5896 | 9831 | ORPHA:231154 | Combined immunodeficiency due to partial RAG1 deficiency | | | | 127 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RAG1 CL E G H | 5896 | 9831 | ORPHA:39041 | Omenn syndrome | | | | 127 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RAG1 CL E G H | 5896 | 9831 | OMIM:603554 | Omenn syndrome | | | | 127 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | | | | 127 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RAG1 CL E G H | 5896 | 9831 | OMIM:601457 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | | | 127 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RAG2 CL E G H | 5897 | 9832 | OMIM:233650 | Combined cellular and humoral immune defects with granulomas | | | | 50 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RAG2 CL E G H | 5897 | 9832 | ORPHA:39041 | Omenn syndrome | | | | 50 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RAG2 CL E G H | 5897 | 9832 | OMIM:603554 | Omenn syndrome | | | | 50 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | | | | 50 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RAG2 CL E G H | 5897 | 9832 | OMIM:601457 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | | | 50 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RARA CL E G H | 5914 | 9864 | ORPHA:520 | Acute promyelocytic leukemia | | | | 2 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RBCK1 CL E G H | 10616 | 15864 | OMIM:615895 | Polyglucosan body myopathy 1 with or without immunodeficiency | | | | 10 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RBPJ CL E G H | 3516 | 5724 | ORPHA:974 | Adams-Oliver syndrome | | | | 3 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:221016 | Rothmund-Thomson syndrome type 2 | | | | 445 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | REL CL E G H | 5966 | 9954 | OMIM:619652 | IMMUNODEFICIENCY 92; IMD92 | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RFWD3 CL E G H | 55159 | 25539 | ORPHA:84 | Fanconi anemia | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RFX5 CL E G H | 5993 | 9986 | OMIM:209920 | Bare lymphocyte syndrome, type II | | | | 38 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RFX5 CL E G H | 5993 | 9986 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 38 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RFXANK CL E G H | 8625 | 9987 | OMIM:209920 | Bare lymphocyte syndrome, type II | | | | 26 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RFXANK CL E G H | 8625 | 9987 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 26 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RFXAP CL E G H | 5994 | 9988 | OMIM:209920 | Bare lymphocyte syndrome, type II | | | | 34 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RFXAP CL E G H | 5994 | 9988 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 34 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RIPK1 CL E G H | 8737 | 10019 | OMIM:618108 | IMMUNODEFICIENCY 57; IMD57 | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RMRP CL E G H | 6023 | 10031 | OMIM:250250 | Cartilage-Hair hypoplasia | | | | 37 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RMRP CL E G H | 6023 | 10031 | ORPHA:175 | Cartilage-hair hypoplasia | | | | 37 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RMRP CL E G H | 6023 | 10031 | ORPHA:39041 | Omenn syndrome | | | | 37 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RNASEH2B CL E G H | 79621 | 25671 | OMIM:610181 | Aicardi-Goutieres syndrome 2 | | | | 34 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | | | | 15 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:616651 | Roifman syndrome | | | | 15 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RPA1 CL E G H | 6117 | 10289 | OMIM:619767 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6 | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RPL11 CL E G H | 6135 | 10301 | OMIM:612562 | Diamond-Blackfan anemia 7 | | | | 22 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RPL18 CL E G H | 6141 | 10310 | OMIM:618310 | DIAMOND-BLACKFAN ANEMIA 18; DBA18 | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RPL26 CL E G H | 6154 | 10327 | OMIM:614900 | Diamond-Blackfan anemia 11 | | | | 3 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | | | | 11 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RPL35A CL E G H | 6165 | 10345 | OMIM:612528 | Diamond-Blackfan anemia 5 | | | | 11 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | | | | 40 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | | | | 26 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RPS14 CL E G H | 6208 | 10387 | ORPHA:86841 | Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | | | | 5 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RPS17 CL E G H | 6218 | 10397 | OMIM:612527 | Diamond-Blackfan anemia 4 | | | | 5 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | | | | 42 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | | | | 42 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | | | | 20 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RPS28 CL E G H | 6234 | 10418 | OMIM:606164 | Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | | | | 20 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RPS7 CL E G H | 6201 | 10440 | OMIM:612563 | Diamond-Blackfan anemia 8 | | | | 20 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RRAS2 CL E G H | 22800 | 17271 | OMIM:618624 | NOONAN SYNDROME 12; NS12 | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RTEL1 CL E G H | 51750 | 15888 | OMIM:615190 | Dyskeratosis congenita, autosomal recessive 5 | | | | 77 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RUNX1 CL E G H | 861 | 10471 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 181 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | RUNX1 CL E G H | 861 | 10471 | ORPHA:521 | Chronic myeloid leukemia | | | | 181 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SALL4 CL E G H | 57167 | 15924 | OMIM:147750 | Ivic syndrome | | | | 86 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:2307 | IVIC syndrome | | | | 86 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | | | | 8 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SAMD9 CL E G H | 54809 | 1348 | OMIM:619041 | MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2 | | | | 8 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SAMD9L CL E G H | 219285 | 1349 | OMIM:159550 | Ataxia-Pancytopenia syndrome | | | | 4 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SARS2 CL E G H | 54938 | 17697 | OMIM:613845 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome | | | | 60 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SBDS CL E G H | 51119 | 19440 | ORPHA:88 | Idiopathic aplastic anemia | | | | 26 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 26 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SBDS CL E G H | 51119 | 19440 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | 26 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SCARB2 CL E G H | 950 | 1665 | ORPHA:77259 | Gaucher disease type 1 | | | | 77 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SEC61A1 CL E G H | 29927 | 18276 | OMIM:617056 | Tubulointerstitial kidney disease, autosomal dominant, 5 | | | | 2 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | | | | 19 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SGPL1 CL E G H | 8879 | 10817 | OMIM:617575 | Nephrotic syndrome, type 14 | | | | 8 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SH2D1A CL E G H | 4068 | 10820 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 37 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SLC27A4 CL E G H | 10999 | 10998 | ORPHA:88621 | Ichthyosis-prematurity syndrome | | | | 26 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SLC35A1 CL E G H | 10559 | 11021 | OMIM:603585 | Congenital disorder of glycosylation, type IIf | | | | 24 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SLC35A1 CL E G H | 10559 | 11021 | ORPHA:238459 | SLC35A1-CDG | | | | 24 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SLC35C1 CL E G H | 55343 | 20197 | OMIM:266265 | Congenital disorder of glycosylation, type IIc | | | | 71 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | | | | 71 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SLC37A4 CL E G H | 2542 | 4061 | ORPHA:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | | | | 110 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232220 | Glycogen storage disease ib | | | | 110 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232240 | GLYCOGEN STORAGE DISEASE Ic | | | | 110 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SLC39A7 CL E G H | 7922 | 4927 | OMIM:619693 | AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9 | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SLC46A1 CL E G H | 113235 | 30521 | OMIM:229050 | Folate malabsorption, hereditary | | | | 101 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SLC46A1 CL E G H | 113235 | 30521 | ORPHA:90045 | Hereditary folate malabsorption | | | | 101 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | | | | 104 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SLC7A7 CL E G H | 9056 | 11065 | OMIM:222700 | Lysinuric protein intolerance | | | | 104 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SLX4 CL E G H | 84464 | 23845 | ORPHA:84 | Fanconi anemia | | | | 274 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | | | | 74 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | | | | 74 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SMARCD2 CL E G H | 6603 | 11107 | OMIM:617475 | SPECIFIC GRANULE DEFICIENCY 2; SGD2 | | | | 3 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SOCS1 CL E G H | 8651 | 19383 | OMIM:619375 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD | | | | 6 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | | | | 49 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SPI1 CL E G H | 6688 | 11241 | OMIM:619707 | AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10 | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SPINK1 CL E G H | 6690 | 11244 | ORPHA:676 | Hereditary chronic pancreatitis | | | | 34 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SPINK5 CL E G H | 11005 | 15464 | OMIM:256500 | Netherton syndrome | | | | 100 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SPP1 CL E G H | 6696 | 11255 | ORPHA:93552 | Pediatric systemic lupus erythematosus | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SPRED2 CL E G H | 200734 | 17722 | OMIM:619745 | NOONAN SYNDROME 14; NS14 | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SREBF1 CL E G H | 6720 | 11289 | OMIM:158310 | Mucoepithelial dysplasia, hereditary | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SRP54 CL E G H | 6729 | 11301 | OMIM:618752 | NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8 | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SRP54 CL E G H | 6729 | 11301 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | 89 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | STAT1 CL E G H | 6772 | 11362 | OMIM:614162 | Immunodeficiency 31C | | | | 89 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | STAT2 CL E G H | 6773 | 11363 | OMIM:616636 | Immunodeficiency 44 | | | | 9 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | STAT2 CL E G H | 6773 | 11363 | OMIM:618886 | PSEUDO-TORCH SYNDROME 3; PTORCH3 | | | | 9 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:520 | Acute promyelocytic leukemia | | | | 110 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | STAT3 CL E G H | 6774 | 11364 | OMIM:615952 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1 | | | | 110 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:2314 | Autosomal dominant hyper-IgE syndrome | | | | 110 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | STAT3 CL E G H | 6774 | 11364 | OMIM:147060 | Hyper-IgE recurrent infection syndrome | | | | 110 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:93552 | Pediatric systemic lupus erythematosus | | | | 2 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | STAT5B CL E G H | 6777 | 11367 | ORPHA:520 | Acute promyelocytic leukemia | | | | 12 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | STING1 CL E G H | 340061 | 27962 | OMIM:615934 | STING-associated vasculopathy, infantile-onset | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | STK4 CL E G H | 6789 | 11408 | OMIM:614868 | T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS | | | | 4 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | STX11 CL E G H | 8676 | 11429 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 85 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | STX11 CL E G H | 8676 | 11429 | OMIM:603552 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 | | | | 85 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | STXBP2 CL E G H | 6813 | 11445 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 70 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TAFAZZIN CL E G H | 6901 | 11577 | OMIM:302060 | Barth syndrome | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TBK1 CL E G H | 29110 | 11584 | ORPHA:1930 | Herpes simplex virus encephalitis | | | | 20 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:520 | Acute promyelocytic leukemia | | | | 22 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TBX21 CL E G H | 30009 | 11599 | OMIM:619630 | IMMUNODEFICIENCY 88; IMD88 | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TBXAS1 CL E G H | 6916 | 11609 | OMIM:231095 | Ghosal hematodiaphyseal dysplasia | | | | 16 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TCF3 CL E G H | 6929 | 11633 | OMIM:616941 | Agammaglobulinemia 8, autosomal dominant | | | | 2 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TCF3 CL E G H | 6929 | 11633 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 2 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 82 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TCN2 CL E G H | 6948 | 11653 | ORPHA:859 | Transcobalamin deficiency | | | | 57 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TCN2 CL E G H | 6948 | 11653 | OMIM:275350 | Transcobalamin II deficiency | | | | 57 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TDP2 CL E G H | 51567 | 17768 | OMIM:616949 | Spinocerebellar ataxia, autosomal recessive 23 | | | | 3 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TERC CL E G H | 7012 | 11727 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | | | | 48 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TERC CL E G H | 7012 | 11727 | ORPHA:88 | Idiopathic aplastic anemia | | | | 48 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TERT CL E G H | 7015 | 11730 | OMIM:613989 | Dyskeratosis congenita, autosomal dominant 2 | | | | 238 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TERT CL E G H | 7015 | 11730 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | | | | 238 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:88 | Idiopathic aplastic anemia | | | | 238 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | | | | 3 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 3 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TET2 CL E G H | 54790 | 25941 | OMIM:619126 | IMMUNODEFICIENCY 75; IMD75 | | | | 3 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:824 | Primary myelofibrosis | | | | 3 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:98826 | Refractory anemia | | | | 3 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | | | | 3 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TFR2 CL E G H | 7036 | 11762 | OMIM:604250 | Hemochromatosis, type 3 | | | | 67 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TFRC CL E G H | 7037 | 11763 | OMIM:616740 | Immunodeficiency 46 | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:1328 | Camurati-Engelmann disease | | | | 13 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TGFB1 CL E G H | 7040 | 11766 | OMIM:618213 | INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE | | | | 13 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TICAM1 CL E G H | 148022 | 18348 | ORPHA:1930 | Herpes simplex virus encephalitis | | | | 6 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:613990 | Dyskeratosis congenita, autosomal dominant 3 | | | | 60 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | | | | 60 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TLR3 CL E G H | 7098 | 11849 | ORPHA:1930 | Herpes simplex virus encephalitis | | | | 3 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TLR7 CL E G H | 51284 | 15631 | OMIM:301080 | | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TNFAIP3 CL E G H | 7128 | 11896 | OMIM:616744 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL | | | | 26 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TNFRSF13B CL E G H | 23495 | 18153 | ORPHA:1572 | Common variable immunodeficiency | | | | 32 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TNFRSF13C CL E G H | 115650 | 17755 | ORPHA:1572 | Common variable immunodeficiency | | | | 12 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TNFRSF1A CL E G H | 7132 | 11916 | ORPHA:32960 | Tumor necrosis factor receptor 1 associated periodic syndrome | | | | 131 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TNFSF12 CL E G H | 8742 | 11927 | ORPHA:1572 | Common variable immunodeficiency | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TOM1 CL E G H | 10043 | 11982 | OMIM:619510 | IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85 | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TONSL CL E G H | 4796 | 7801 | OMIM:271510 | Spondyloepimetaphyseal dysplasia, Sponastrime type | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TPP2 CL E G H | 7174 | 12016 | ORPHA:444463 | Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TPP2 CL E G H | 7174 | 12016 | OMIM:619220 | IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78 | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TRAC CL E G H | 28755 | 12029 | OMIM:615387 | T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TRAF3 CL E G H | 7187 | 12033 | ORPHA:1930 | Herpes simplex virus encephalitis | | | | 2 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:152700 | Systemic lupus erythematosus | | | | 56 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TRNT1 CL E G H | 51095 | 17341 | OMIM:616084 | SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD | | | | 28 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TTC7A CL E G H | 57217 | 19750 | OMIM:243150 | Gastrointestinal defects and immunodeficiency syndrome | | | | 26 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | TTI2 CL E G H | 80185 | 26262 | ORPHA:391307 | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | | | | 11 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | | | | 7 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | UBE2T CL E G H | 29089 | 25009 | ORPHA:84 | Fanconi anemia | | | | 2 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | UNC119 CL E G H | 9094 | 12565 | OMIM:615518 | IMMUNODEFICIENCY 13; IMD13 | | | | 30 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | UNC13D CL E G H | 201294 | 23147 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 116 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | UNC13D CL E G H | 201294 | 23147 | OMIM:608898 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3 | | | | 116 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | UNC93B1 CL E G H | 81622 | 13481 | ORPHA:1930 | Herpes simplex virus encephalitis | | | | 5 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | | | | 41 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | USB1 CL E G H | 79650 | 25792 | OMIM:604173 | Poikiloderma with neutropenia | | | | 8 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | VPS13B CL E G H | 157680 | 2183 | OMIM:216550 | Cohen syndrome | | | | 546 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | VPS13B CL E G H | 157680 | 2183 | ORPHA:193 | Cohen syndrome | | | | 546 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | VPS33A CL E G H | 65082 | 18179 | ORPHA:505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | VPS33A CL E G H | 65082 | 18179 | OMIM:617303 | Mucopolysaccharidosis-Plus syndrome | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | VPS45 CL E G H | 11311 | 14579 | OMIM:615285 | Neutropenia, severe congenital, 5, autosomal recessive | | | | 7 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | WAS CL E G H | 7454 | 12731 | OMIM:300299 | Neutropenia, severe congenital, X-linked | | | | 65 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | WAS CL E G H | 7454 | 12731 | ORPHA:86788 | X-linked severe congenital neutropenia | | | | 65 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | | | | 6 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | WIPF1 CL E G H | 7456 | 12736 | OMIM:614493 | WISKOTT-ALDRICH SYNDROME 2; WAS2 | | | | 6 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | XIAP CL E G H | 331 | 592 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 81 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:84 | Fanconi anemia | | | | 125 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | XRCC4 CL E G H | 7518 | 12831 | ORPHA:99812 | LIG4 syndrome | | | | 9 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | XRCC4 CL E G H | 7518 | 12831 | OMIM:616541 | Short stature, microcephaly, and endocrine dysfunction | | | | 9 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ZAP70 CL E G H | 7535 | 12858 | OMIM:617006 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2 | | | | 46 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | | | | 46 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ZAP70 CL E G H | 7535 | 12858 | OMIM:269840 | SELECTIVE T-CELL DEFECT | | | | 46 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ZBTB16 CL E G H | 7704 | 12930 | ORPHA:520 | Acute promyelocytic leukemia | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ZBTB24 CL E G H | 9841 | 21143 | ORPHA:2268 | ICF syndrome | | | | 9 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ZNF341 CL E G H | 84905 | 15992 | OMIM:618282 | Hyper-Ige recurrent infection syndrome 3, autosomal recessive | | | | 1 | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |
HP:0011893 | HP:0011893 | Abnormal leukocyte count | 0 | ZPR1 CL E G H | 8882 | 13051 | OMIM:619321 | GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF | | | | | | |
HP:0011893 | HP:0020178 | Abnormal dendritic cell count | 1 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0032372 | Increased peripheral blast count | 1 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | ABCD4 CL E G H | 5826 | 68 | OMIM:614857 | Methylmalonic aciduria and homocystinuria, Cblj type | | | | 53 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | ABL1 CL E G H | 25 | 76 | ORPHA:521 | Chronic myeloid leukemia | HP:0040282 - Frequent | | | 51 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | ACAT1 CL E G H | 38 | 93 | ORPHA:134 | Beta-ketothiolase deficiency | HP:0040282 - Frequent | | | 91 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | | | | 16 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | | | | 16 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | ADA CL E G H | 100 | 186 | ORPHA:39041 | Omenn syndrome | | | | 75 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | ADA CL E G H | 100 | 186 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 75 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | ADA CL E G H | 100 | 186 | ORPHA:277 | Severe combined immunodeficiency due to adenosine deaminase deficiency | | | | 75 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | ADA CL E G H | 100 | 186 | OMIM:102700 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | | | | 75 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | ADA CL E G H | 100 | 186 | OMIM:102700 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | | | | 75 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | ADA CL E G H | 100 | 186 | OMIM:102700 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | | | | 75 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 22 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | ADA2 CL E G H | 51816 | 1839 | OMIM:182410 | Sneddon syndrome | | | | 22 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | ADAMTS3 CL E G H | 9508 | 219 | ORPHA:2136 | Hennekam syndrome | | | | 1 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | ADH5 CL E G H | 128 | 253 | OMIM:619151 | AMED SYNDROME, DIGENIC; AMEDS | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | AGA CL E G H | 175 | 318 | OMIM:208400 | ASPARTYLGLUCOSAMINURIA | | | | 76 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | AK2 CL E G H | 204 | 362 | OMIM:267500 | Reticular dysgenesia | | | | 19 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | AK2 CL E G H | 204 | 362 | OMIM:267500 | Reticular dysgenesia | | | | 19 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | AK2 CL E G H | 204 | 362 | OMIM:267500 | Reticular dysgenesia | | | | 19 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | AK2 CL E G H | 204 | 362 | ORPHA:33355 | Reticular dysgenesis | HP:0040281 - Very frequent | | | 19 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | | | | 68 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | AMN CL E G H | 81693 | 14604 | ORPHA:35858 | Imerslund-Gräsbeck syndrome | | | | 25 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | ANAPC1 CL E G H | 64682 | 19988 | ORPHA:221008 | Rothmund-Thomson syndrome type 1 | | | | 2 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | ANKRD26 CL E G H | 22852 | 29186 | OMIM:188000 | THROMBOCYTOPENIA 2; THC2 | | | | 106 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | AP3D1 CL E G H | 8943 | 568 | OMIM:617050 | HERMANSKY-PUDLAK SYNDROME 10; HPS10 | | | | 1 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | ARHGAP31 CL E G H | 57514 | 29216 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 147 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | ARHGEF1 CL E G H | 9138 | 681 | OMIM:618459 | Immunodeficiency 62 | | | | | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | ARPC1B CL E G H | 10095 | 704 | OMIM:617718 | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | | | | | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | ARPC1B CL E G H | 10095 | 704 | OMIM:617718 | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | | | | | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 145 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 145 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 145 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | | | | 145 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | | | | 3267 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | ATM CL E G H | 472 | 795 | ORPHA:100 | Ataxia-telangiectasia | | | | 3267 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | ATP11A CL E G H | 23250 | 13552 | OMIM:619851 | LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24 | | | | | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | ATP6AP1 CL E G H | 537 | 868 | OMIM:300972 | IMMUNODEFICIENCY 47; IMD47 | | | | 5 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:301045 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R | | | | 36 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | ATRX CL E G H | 546 | 886 | ORPHA:231401 | Alpha-thalassemia-myelodysplastic syndrome | | | | 169 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | B2M CL E G H | 567 | 914 | OMIM:241600 | Immunodeficiency 43 | | | | 8 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | BACH2 CL E G H | 60468 | 14078 | OMIM:618394 | IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60 | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | BACH2 CL E G H | 60468 | 14078 | OMIM:618394 | IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60 | | | | | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | BCL10 CL E G H | 8915 | 989 | OMIM:616098 | IMMUNODEFICIENCY 37; IMD37 | | | | 18 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | BCL11B CL E G H | 64919 | 13222 | OMIM:617237 | Immunodeficiency 49 | | | | 3 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | BCL11B CL E G H | 64919 | 13222 | OMIM:617237 | Immunodeficiency 49 | | | | 3 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | BCL11B CL E G H | 64919 | 13222 | OMIM:617237 | Immunodeficiency 49 | | | | 3 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | BCL11B CL E G H | 64919 | 13222 | OMIM:618092 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES | | | | 3 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | BCL11B CL E G H | 64919 | 13222 | OMIM:618092 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES | | | | 3 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | BCOR CL E G H | 54880 | 20893 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 101 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | BCOR CL E G H | 54880 | 20893 | ORPHA:520 | Acute promyelocytic leukemia | | | | 101 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | BCOR CL E G H | 54880 | 20893 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 101 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | BCR CL E G H | 613 | 1014 | ORPHA:521 | Chronic myeloid leukemia | HP:0040282 - Frequent | | | 5 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | | | | 314 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | BLNK CL E G H | 29760 | 14211 | OMIM:613502 | Agammaglobulinemia 4, autosomal recessive | | | | 4 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | BLNK CL E G H | 29760 | 14211 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 4 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | BLOC1S6 CL E G H | 26258 | 8549 | OMIM:614171 | Hermansky-Pudlak syndrome 9 | . | | | 35 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 5769 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 7642 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 1086 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | BTK CL E G H | 695 | 1133 | OMIM:300755 | Agammaglobulinemia, X-linked | | | | 109 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | BTK CL E G H | 695 | 1133 | OMIM:300755 | Agammaglobulinemia, X-linked | | | | 109 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | BTK CL E G H | 695 | 1133 | OMIM:307200 | Isolated growth hormone deficiency, type III, with agammaglobulinemia | | | | 109 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | BTK CL E G H | 695 | 1133 | ORPHA:47 | X-linked agammaglobulinemia | | | | 109 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | HP:0040282 - Frequent | | | 1 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | | | | 1 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | | | | 1 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | | | | 1 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | CA2 CL E G H | 760 | 1373 | ORPHA:2785 | Osteopetrosis with renal tubular acidosis | | | | 29 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | CALR CL E G H | 811 | 1455 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 1 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | CAMK2B CL E G H | 816 | 1461 | OMIM:617799 | Mental retardation, autosomal dominant 54 | | | | | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | CAPN3 CL E G H | 825 | 1480 | OMIM:253600 | Muscular dystrophy, limb-girdle, type 2A | | | | 323 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | CAPN3 CL E G H | 825 | 1480 | OMIM:253600 | Muscular dystrophy, limb-girdle, type 2A | | | | 323 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | CARD10 CL E G H | 29775 | 16422 | OMIM:619632 | IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89 | | | | 5 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | CARD11 CL E G H | 84433 | 16393 | OMIM:616452 | B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA | | | | 45 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | CARD11 CL E G H | 84433 | 16393 | OMIM:616452 | B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA | | | | 45 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | CARD11 CL E G H | 84433 | 16393 | OMIM:615206 | Card11 immunodeficiency | | | | 45 | | |
HP:0011893 | HP:0012310 | Abnormal monocyte count | 1 | CARD11 CL E G H | 84433 | 16393 | OMIM:615206 | Card11 immunodeficiency | | | | 45 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | CARD11 CL E G H | 84433 | 16393 | OMIM:617638 | Immunodeficiency 11B with atopic dermatitis | | | | 45 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | CARD11 CL E G H | 84433 | 16393 | OMIM:617638 | Immunodeficiency 11B with atopic dermatitis | | | | 45 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | CARD9 CL E G H | 64170 | 16391 | OMIM:212050 | Candidiasis, familial chronic mucocutaneous, autosomal recessive | | | | 45 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | CARD9 CL E G H | 64170 | 16391 | OMIM:212050 | Candidiasis, familial chronic mucocutaneous, autosomal recessive | | | | 45 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | CASK CL E G H | 8573 | 1497 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | . | | | 118 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 87 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 87 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 87 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | | | | 87 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | | | | 87 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | | | | 87 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | CASP8 CL E G H | 841 | 1509 | OMIM:607271 | CASPASE 8 DEFICIENCY | | | | 37 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | CASR CL E G H | 846 | 1514 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040281 - Very frequent | | | 272 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | CBL CL E G H | 867 | 1541 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 317 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | CBL CL E G H | 867 | 1541 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 317 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | CCBE1 CL E G H | 147372 | 29426 | ORPHA:2136 | Hennekam syndrome | | | | 147 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | CD19 CL E G H | 930 | 1633 | ORPHA:1572 | Common variable immunodeficiency | | | | 38 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | CD19 CL E G H | 930 | 1633 | OMIM:613493 | IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3 | | | | 38 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | CD247 CL E G H | 919 | 1677 | OMIM:610163 | IMMUNODEFICIENCY 25; IMD25 | | | | 8 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | CD247 CL E G H | 919 | 1677 | OMIM:610163 | IMMUNODEFICIENCY 25; IMD25 | | | | 8 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | CD247 CL E G H | 919 | 1677 | OMIM:610163 | IMMUNODEFICIENCY 25; IMD25 | | | | 8 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 8 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 8 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 8 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | CD3D CL E G H | 915 | 1673 | OMIM:615617 | Immunodeficiency 19 | | | | 18 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 18 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 18 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 18 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | CD3E CL E G H | 916 | 1674 | OMIM:615615 | Immunodeficiency 18 | | | | 24 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 24 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 24 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 24 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | | | | 19 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | CD4 CL E G H | 920 | 1678 | OMIM:619238 | IMMUNODEFICIENCY 79; IMD79 | | | | 1 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | CD40 CL E G H | 958 | 11919 | OMIM:606843 | Immunodeficiency with hyper-igm, type 3 | | | | 27 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | CD40LG CL E G H | 959 | 11935 | OMIM:308230 | Immunodeficiency, X-linked, with hyper-IgM | | | | 33 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | CD79A CL E G H | 973 | 1698 | OMIM:613501 | Agammaglobulinemia 3, autosomal recessive | | | | 9 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | CD79A CL E G H | 973 | 1698 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 9 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | CD79B CL E G H | 974 | 1699 | OMIM:612692 | Agammaglobulinemia 6, autosomal recessive | | | | 6 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | CD79B CL E G H | 974 | 1699 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 6 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | CD81 CL E G H | 975 | 1701 | ORPHA:1572 | Common variable immunodeficiency | | | | 1 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | CD8A CL E G H | 925 | 1706 | OMIM:608957 | Cd8 deficiency, familial | | | | 4 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | CDC40 CL E G H | 51362 | 17350 | OMIM:619302 | PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15 | | | | | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | CDCA7 CL E G H | 83879 | 14628 | ORPHA:2268 | ICF syndrome | | | | 4 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | CDSN CL E G H | 1041 | 1802 | OMIM:270300 | Peeling skin syndrome 1 | | | | 7 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | CDSN CL E G H | 1041 | 1802 | OMIM:270300 | Peeling skin syndrome 1 | | | | 7 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | CFTR CL E G H | 1080 | 1884 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040281 - Very frequent | | | 1371 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 515 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:39041 | Omenn syndrome | | | | 515 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | CIITA CL E G H | 4261 | 7067 | OMIM:209920 | Bare lymphocyte syndrome, type II | | | | 118 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | CIITA CL E G H | 4261 | 7067 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 118 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | CIITA CL E G H | 4261 | 7067 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 118 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | CLPB CL E G H | 81570 | 30664 | ORPHA:445038 | 3-methylglutaconic aciduria type 7 | | | | 38 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | CLPB CL E G H | 81570 | 30664 | OMIM:616271 | 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | | | | 38 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | CLPB CL E G H | 81570 | 30664 | OMIM:616271 | 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | | | | 38 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | CLPB CL E G H | 81570 | 30664 | OMIM:619835 | 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A | | | | 38 | | |
HP:0011893 | HP:0012310 | Abnormal monocyte count | 1 | CLPB CL E G H | 81570 | 30664 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 38 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | CLPB CL E G H | 81570 | 30664 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 38 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | CLPB CL E G H | 81570 | 30664 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 38 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | CLPB CL E G H | 81570 | 30664 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 38 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | COG4 CL E G H | 25839 | 18620 | OMIM:618150 | Saul-Wilson syndrome | | | | 67 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | CORO1A CL E G H | 11151 | 2252 | OMIM:615401 | Immunodeficiency 8 | | | | 7 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | CPA1 CL E G H | 1357 | 2296 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040281 - Very frequent | | | 5 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | CR2 CL E G H | 1380 | 2336 | ORPHA:1572 | Common variable immunodeficiency | | | | 10 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | CSF3R CL E G H | 1441 | 2439 | OMIM:617014 | Neutropenia, severe congenital, 7, autosomal recessive | | | | 34 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | CSF3R CL E G H | 1441 | 2439 | OMIM:162830 | Neutrophilia, hereditary | | | | 34 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | CTLA4 CL E G H | 1493 | 2505 | OMIM:616100 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5 | | | | 10 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | CTLA4 CL E G H | 1493 | 2505 | OMIM:152700 | Systemic lupus erythematosus | . | | | 10 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | CTNNBL1 CL E G H | 56259 | 15879 | OMIM:619846 | | | | | | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | CTPS1 CL E G H | 1503 | 2519 | OMIM:615897 | IMMUNODEFICIENCY 24; IMD24 | | | | 2 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | CTRC CL E G H | 11330 | 2523 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040281 - Very frequent | | | 39 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | CUBN CL E G H | 8029 | 2548 | ORPHA:35858 | Imerslund-Gräsbeck syndrome | | | | 273 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | CXCR2 CL E G H | 3579 | 6027 | OMIM:619407 | WHIM SYNDROME 2; WHIMS2 | | | | 1 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | CXCR4 CL E G H | 7852 | 2561 | ORPHA:51636 | WHIM syndrome | | | | 9 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | CXCR4 CL E G H | 7852 | 2561 | ORPHA:51636 | WHIM syndrome | | | | 9 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | CXCR4 CL E G H | 7852 | 2561 | OMIM:193670 | Whim syndrome | | | | 9 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | CYBC1 CL E G H | 79415 | 28672 | OMIM:618935 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5 | | | | | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:603554 | Omenn syndrome | | | | 94 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 94 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:603554 | Omenn syndrome | | | | 94 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:603554 | Omenn syndrome | | | | 94 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:39041 | Omenn syndrome | | | | 94 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:275 | Severe combined immunodeficiency due to DCLRE1C deficiency | | | | 94 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:602450 | Severe combined immunodeficiency with sensitivity to ionizing radiation | | | | 94 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:602450 | Severe combined immunodeficiency with sensitivity to ionizing radiation | | | | 94 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:602450 | Severe combined immunodeficiency with sensitivity to ionizing radiation | | | | 94 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | DDX41 CL E G H | 51428 | 18674 | OMIM:616871 | Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to | | | | 23 | | |
HP:0011893 | HP:0012310 | Abnormal monocyte count | 1 | DDX41 CL E G H | 51428 | 18674 | OMIM:616871 | Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to | | | | 23 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | DKC1 CL E G H | 1736 | 2890 | OMIM:305000 | Dyskeratosis congenita, X-linked | . | | | 65 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | DLL4 CL E G H | 54567 | 2910 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 5 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | 5 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | DNASE1 CL E G H | 1773 | 2956 | OMIM:152700 | Systemic lupus erythematosus | . | | | 3 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | DNMT3B CL E G H | 1789 | 2979 | ORPHA:2268 | ICF syndrome | | | | 79 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | DNMT3B CL E G H | 1789 | 2979 | OMIM:242860 | Immunodeficiency-Centromeric instability-facial anomalies syndrome | | | | 79 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | | | | 6 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | DOCK6 CL E G H | 57572 | 19189 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 18 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | DOCK8 CL E G H | 81704 | 19191 | ORPHA:217390 | Combined immunodeficiency due to DOCK8 deficiency | | | | 217 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | | | | 217 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | | | | 217 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | | | | 217 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 1 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | EFL1 CL E G H | 79631 | 25789 | OMIM:617941 | Shwachman-Diamond syndrome 2 | | | | 1 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | | | | 65 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | | | | 65 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | | | | 65 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | ELANE CL E G H | 1991 | 3309 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 79 | | |
HP:0011893 | HP:0012310 | Abnormal monocyte count | 1 | ELANE CL E G H | 1991 | 3309 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 79 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | ELANE CL E G H | 1991 | 3309 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 79 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | ELANE CL E G H | 1991 | 3309 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 79 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | ELANE CL E G H | 1991 | 3309 | ORPHA:2686 | Cyclic neutropenia | | | | 79 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | ELANE CL E G H | 1991 | 3309 | OMIM:162800 | Cyclic neutropenia | | | | 79 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | ELANE CL E G H | 1991 | 3309 | ORPHA:2686 | Cyclic neutropenia | | | | 79 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | ELANE CL E G H | 1991 | 3309 | OMIM:202700 | Neutropenia, severe congenital, 1, autosomal dominant | | | | 79 | | |
HP:0011893 | HP:0012310 | Abnormal monocyte count | 1 | ELANE CL E G H | 1991 | 3309 | OMIM:202700 | Neutropenia, severe congenital, 1, autosomal dominant | | | | 79 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | ELANE CL E G H | 1991 | 3309 | OMIM:202700 | Neutropenia, severe congenital, 1, autosomal dominant | | | | 79 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | ELF4 CL E G H | 2000 | 3319 | OMIM:301074 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2 | | | | 1 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | ELF4 CL E G H | 2000 | 3319 | OMIM:301074 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2 | | | | 1 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | EOGT CL E G H | 285203 | 28526 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | | | | 106 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | | | | 54 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 158 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | ERCC6L2 CL E G H | 375748 | 26922 | OMIM:615715 | Bone marrow failure syndrome 2 | . | | | 4 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | ETV6 CL E G H | 2120 | 3495 | OMIM:616216 | Thrombocytopenia 5 | | | | 13 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | EXTL3 CL E G H | 2137 | 3518 | OMIM:617425 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | | | | 3 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | EXTL3 CL E G H | 2137 | 3518 | OMIM:617425 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | | | | 3 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | EXTL3 CL E G H | 2137 | 3518 | OMIM:617425 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | | | | 3 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | | | | 3 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | | | | 3 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | | | | 3 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 340 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | FANCA CL E G H | 2175 | 3582 | OMIM:227650 | Fanconi anemia | | | | 340 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 58 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 410 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | FANCC CL E G H | 2176 | 3584 | OMIM:227645 | Fanconi anemia, complementation group C | | | | 410 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 147 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 73 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | FANCE CL E G H | 2178 | 3586 | OMIM:600901 | Fanconi anemia, complementation group E | | | | 73 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 87 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | FANCF CL E G H | 2188 | 3587 | OMIM:603467 | FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF | | | | 87 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 73 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | FANCG CL E G H | 2189 | 3588 | OMIM:614082 | FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG | | | | 73 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 157 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | FANCI CL E G H | 55215 | 25568 | OMIM:609053 | Fanconi anemia, complementation group I | | | | 157 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 53 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 107 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | FAS CL E G H | 355 | 11920 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | FAS CL E G H | 355 | 11920 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | FAS CL E G H | 355 | 11920 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | FASLG CL E G H | 356 | 11936 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | FASLG CL E G H | 356 | 11936 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | FASLG CL E G H | 356 | 11936 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | FAT4 CL E G H | 79633 | 23109 | ORPHA:2136 | Hennekam syndrome | | | | 114 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | FBXL4 CL E G H | 26235 | 13601 | OMIM:615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | | | | 384 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | FBXW7 CL E G H | 55294 | 16712 | OMIM:620012 | | | | | 22 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | FCGR2A CL E G H | 2212 | 3616 | OMIM:152700 | Systemic lupus erythematosus | . | | | 6 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | FCGR2B CL E G H | 2213 | 3618 | OMIM:152700 | Systemic lupus erythematosus | . | | | 2 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | FCGR3B CL E G H | 2215 | 3620 | ORPHA:464370 | Neonatal alloimmune neutropenia | | | | 5 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | FCHO1 CL E G H | 23149 | 29002 | OMIM:619164 | IMMUNODEFICIENCY 76; IMD76 | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | FDX2 CL E G H | 112812 | 30546 | OMIM:251900 | Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | | | | | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | FERMT3 CL E G H | 83706 | 23151 | OMIM:612840 | Leukocyte adhesion deficiency, type III | | | | 23 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | FIBP CL E G H | 9158 | 3705 | ORPHA:500095 | Tall stature-intellectual disability-renal anomalies syndrome | | | | 2 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | FIP1L1 CL E G H | 81608 | 19124 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 4 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | FIP1L1 CL E G H | 81608 | 19124 | ORPHA:520 | Acute promyelocytic leukemia | | | | 4 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | FIP1L1 CL E G H | 81608 | 19124 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 4 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | FMO3 CL E G H | 2328 | 3771 | OMIM:602079 | Trimethylaminuria | | | | 55 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | FNIP1 CL E G H | 96459 | 29418 | OMIM:619705 | IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93 | | | | 1 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | FNIP1 CL E G H | 96459 | 29418 | OMIM:619705 | IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93 | | | | 1 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | FOXN1 CL E G H | 8456 | 12765 | ORPHA:169095 | Severe combined immunodeficiency due to FOXN1 deficiency | | | | 54 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | FOXN1 CL E G H | 8456 | 12765 | OMIM:601705 | T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY | | | | 54 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | FOXN1 CL E G H | 8456 | 12765 | OMIM:618806 | T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND | | | | 54 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | | | | 32 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | | | | 32 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | FOXP3 CL E G H | 50943 | 6106 | OMIM:304790 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | | | | 32 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | FOXP3 CL E G H | 50943 | 6106 | OMIM:304790 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | | | | 32 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | FUT8 CL E G H | 2530 | 4019 | OMIM:618005 | Congenital disorder of glycosylation with defective fucosylation 1 | | | | 3 | | |
HP:0011893 | HP:0012310 | Abnormal monocyte count | 1 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | | | | 37 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | . | | | 37 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | | | | 37 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | | | | 37 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | G6PD CL E G H | 2539 | 4057 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | . | | | 101 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | GATA1 CL E G H | 2623 | 4170 | OMIM:300835 | Anemia, X-linked, with or without neutropenia and/or platelet abnormalities | | | | 29 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | | | | 29 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 29 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040283 - Occasional | | | 29 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | GATA2 CL E G H | 2624 | 4171 | ORPHA:3226 | Deafness-lymphedema-leukemia syndrome | HP:0040283 - Occasional | | | 137 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | GATA2 CL E G H | 2624 | 4171 | ORPHA:3226 | Deafness-lymphedema-leukemia syndrome | | | | 137 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | GATA2 CL E G H | 2624 | 4171 | OMIM:614172 | Immunodeficiency 21 | | | | 137 | | |
HP:0011893 | HP:0012310 | Abnormal monocyte count | 1 | GATA2 CL E G H | 2624 | 4171 | OMIM:614172 | Immunodeficiency 21 | | | | 137 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | GATA2 CL E G H | 2624 | 4171 | OMIM:614172 | Immunodeficiency 21 | | | | 137 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | GATA2 CL E G H | 2624 | 4171 | OMIM:614038 | Lymphedema, primary, with myelodysplasia | | | | 137 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | GATA2 CL E G H | 2624 | 4171 | ORPHA:98827 | Unclassified myelodysplastic syndrome | HP:0040283 - Occasional | | | 137 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77259 | Gaucher disease type 1 | HP:0040283 - Occasional | | | | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | GFI1 CL E G H | 2672 | 4237 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 56 | | |
HP:0011893 | HP:0012310 | Abnormal monocyte count | 1 | GFI1 CL E G H | 2672 | 4237 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 56 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | GFI1 CL E G H | 2672 | 4237 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 56 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | GFI1 CL E G H | 2672 | 4237 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 56 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | GFI1 CL E G H | 2672 | 4237 | OMIM:607847 | Neutropenia, nonimmune chronic idiopathic, of adults | | | | 56 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | GFI1 CL E G H | 2672 | 4237 | OMIM:613107 | Neutropenia, severe congenital, 2, autosomal dominant | | | | 56 | | |
HP:0011893 | HP:0012310 | Abnormal monocyte count | 1 | GFI1 CL E G H | 2672 | 4237 | OMIM:613107 | Neutropenia, severe congenital, 2, autosomal dominant | | | | 56 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | GFI1 CL E G H | 2672 | 4237 | OMIM:613107 | Neutropenia, severe congenital, 2, autosomal dominant | | | | 56 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | GINS1 CL E G H | 9837 | 28980 | OMIM:617827 | Immunodeficiency 55 | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | GINS1 CL E G H | 9837 | 28980 | OMIM:617827 | Immunodeficiency 55 | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | GSS CL E G H | 2937 | 4624 | OMIM:266130 | Glutathione synthetase deficiency | | | | 39 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | | | | 2 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | GTF2H5 CL E G H | 404672 | 21157 | OMIM:616395 | Trichothiodystrophy 3, photosensitive | | | | 3 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | GTF2H5 CL E G H | 404672 | 21157 | OMIM:616395 | Trichothiodystrophy 3, photosensitive | | | | 3 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | HAX1 CL E G H | 10456 | 16915 | OMIM:610738 | NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3 | | | | 32 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:231222 | Beta-thalassemia intermedia | HP:0040283 - Occasional | | | 580 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:232 | Sickle cell anemia | HP:0040282 - Frequent | | | 580 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | HBB CL E G H | 3043 | 4827 | OMIM:603903 | Sickle cell anemia | . | | | 580 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | HELLS CL E G H | 3070 | 4861 | ORPHA:2268 | ICF syndrome | | | | 6 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:133 | Chronic beryllium disease | | | | 1 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | | | | 2 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | HP:0040282 - Frequent | | | 2 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | | | | 2 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | | | | 2 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | HMGCL CL E G H | 3155 | 5005 | ORPHA:20 | 3-hydroxy-3-methylglutaric aciduria | HP:0040283 - Occasional | | | 35 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | HMGCL CL E G H | 3155 | 5005 | ORPHA:20 | 3-hydroxy-3-methylglutaric aciduria | HP:0040283 - Occasional | | | 35 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | HSCB CL E G H | 150274 | 28913 | OMIM:619523 | ANEMIA, SIDEROBLASTIC, 5; SIDBA5 | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | HTRA2 CL E G H | 27429 | 14348 | OMIM:617248 | 3-methylglutaconic aciduria, type VIII | | | | 39 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | HYOU1 CL E G H | 10525 | 16931 | OMIM:233600 | Immunodeficiency 59 and hypoglycemia | | | | | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | ICOS CL E G H | 29851 | 5351 | ORPHA:1572 | Common variable immunodeficiency | | | | 32 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | | | | 32 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | | | | 32 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | IFIH1 CL E G H | 64135 | 18873 | OMIM:619773 | IMMUNODEFICIENCY 95; IMD95 | | | | 28 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | IFNG CL E G H | 3458 | 5438 | ORPHA:88 | Idiopathic aplastic anemia | | | | 23 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | IFNG CL E G H | 3458 | 5438 | OMIM:618963 | IMMUNODEFICIENCY 69; IMD69 | | | | 23 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | IFNGR1 CL E G H | 3459 | 5439 | OMIM:209950 | Immunodeficiency 27A, mycobacteriosis, AR | | | | 60 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | IGHM CL E G H | 3507 | 5541 | OMIM:601495 | Agammaglobulinemia 1, autosomal recessive | | | | 7 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | IGHM CL E G H | 3507 | 5541 | OMIM:601495 | Agammaglobulinemia 1, autosomal recessive | | | | 7 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | IGHM CL E G H | 3507 | 5541 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 7 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | IGLL1 CL E G H | 3543 | 5870 | OMIM:613500 | Agammaglobulinemia 2, autosomal recessive | | | | 3 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | IGLL1 CL E G H | 3543 | 5870 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 3 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | IKBKG CL E G H | 8517 | 5961 | OMIM:301081 | | | | | 52 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | IKBKG CL E G H | 8517 | 5961 | OMIM:301081 | | | | | 52 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | | | | 52 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | . | | | 52 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | | | | 52 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | | | | 52 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | IKZF1 CL E G H | 10320 | 13176 | OMIM:616873 | IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13 | | | | 8 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | IKZF3 CL E G H | 22806 | 13178 | OMIM:619437 | IMMUNODEFICIENCY 84; IMD84 | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | IL1RN CL E G H | 3557 | 6000 | OMIM:612852 | Interleukin 1 receptor antagonist deficiency | | | | 40 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | IL21 CL E G H | 59067 | 6005 | OMIM:615767 | IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11 | | | | 3 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | IL2RB CL E G H | 3560 | 6009 | OMIM:618495 | Immunodeficiency 63 with lymphoproliferation and autoimmunity | | | | | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | IL2RG CL E G H | 3561 | 6010 | OMIM:312863 | Combined immunodeficiency, X-linked | | | | 48 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | IL2RG CL E G H | 3561 | 6010 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 48 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | IL2RG CL E G H | 3561 | 6010 | ORPHA:39041 | Omenn syndrome | | | | 48 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | IL2RG CL E G H | 3561 | 6010 | OMIM:300400 | Severe combined immunodeficiency, X-linked | | | | 48 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | | | | 48 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | IL36RN CL E G H | 26525 | 15561 | OMIM:614204 | PSORIASIS 14, PUSTULAR; PSORS14 | | | | 51 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | IL36RN CL E G H | 26525 | 15561 | OMIM:614204 | PSORIASIS 14, PUSTULAR; PSORS14 | | | | 51 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | IL37 CL E G H | 27178 | 15563 | OMIM:619398 | INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31 | | | | | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | IL6R CL E G H | 3570 | 6019 | OMIM:618944 | HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5 | | | | 1 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | IL6ST CL E G H | 3572 | 6021 | OMIM:619752 | HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | IL6ST CL E G H | 3572 | 6021 | OMIM:619752 | HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A | | | | | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | IL6ST CL E G H | 3572 | 6021 | OMIM:618523 | HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | IL6ST CL E G H | 3572 | 6021 | OMIM:618523 | HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B | | | | | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | IL7 CL E G H | 3574 | 6023 | OMIM:618309 | EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5 | | | | | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | IL7R CL E G H | 3575 | 6024 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 94 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | IL7R CL E G H | 3575 | 6024 | ORPHA:39041 | Omenn syndrome | | | | 94 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | IL7R CL E G H | 3575 | 6024 | OMIM:608971 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive | | | | 94 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | | | | 94 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | | | | 94 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | | | | 94 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | IRAK1 CL E G H | 3654 | 6112 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040282 - Frequent | | | | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | IRAK1 CL E G H | 3654 | 6112 | ORPHA:93552 | Pediatric systemic lupus erythematosus | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | IRAK4 CL E G H | 51135 | 17967 | OMIM:607676 | Immunodeficiency 67 | | | | 58 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | IRAK4 CL E G H | 51135 | 17967 | ORPHA:70592 | Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency | | | | 58 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 4 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 4 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:520 | Acute promyelocytic leukemia | | | | 4 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:1572 | Common variable immunodeficiency | | | | 4 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | IRF2BP2 CL E G H | 359948 | 21729 | OMIM:617765 | IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14 | | | | 4 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | IRF8 CL E G H | 3394 | 5358 | OMIM:226990 | Immunodeficiency 32B | | | | 5 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | IRF8 CL E G H | 3394 | 5358 | OMIM:226990 | Immunodeficiency 32B | | | | 5 | | |
HP:0011893 | HP:0012310 | Abnormal monocyte count | 1 | IRF8 CL E G H | 3394 | 5358 | OMIM:226990 | Immunodeficiency 32B | | | | 5 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | ISCU CL E G H | 23479 | 29882 | OMIM:255125 | Myopathy with exercise intolerance, Swedish type | | | | 19 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | ITCH CL E G H | 83737 | 13890 | ORPHA:228426 | Syndromic multisystem autoimmune disease due to Itch deficiency | | | | 3 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | ITGB2 CL E G H | 3689 | 6155 | OMIM:116920 | Leukocyte adhesion deficiency, type I | | | | 114 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | ITK CL E G H | 3702 | 6171 | OMIM:613011 | LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1 | | | | 51 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | ITK CL E G H | 3702 | 6171 | OMIM:613011 | LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1 | | | | 51 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | IVD CL E G H | 3712 | 6186 | OMIM:243500 | Isovaleric acidemia | . | | | 105 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | JAGN1 CL E G H | 84522 | 26926 | OMIM:616022 | Neutropenia, severe congenital, 6, autosomal recessive | | | | 8 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | JAK1 CL E G H | 3716 | 6190 | OMIM:618999 | AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE | | | | 12 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | JAK1 CL E G H | 3716 | 6190 | OMIM:618999 | AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE | | | | 12 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | JAK2 CL E G H | 3717 | 6192 | OMIM:263300 | Polycythemia vera | . | | | 57 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | JAK2 CL E G H | 3717 | 6192 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 57 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | JAK3 CL E G H | 3718 | 6193 | OMIM:600802 | Scid, autosomal recessive, T-Negative/b-Positive type | | | | 140 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | | | | 140 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | KIT CL E G H | 3815 | 6342 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | | | | 327 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | KIT CL E G H | 3815 | 6342 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 327 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0011893 | HP:0012310 | Abnormal monocyte count | 1 | KRAS CL E G H | 3845 | 6407 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | | | | 196 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | KRAS CL E G H | 3845 | 6407 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | | | | 196 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | KRAS CL E G H | 3845 | 6407 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | | | | 196 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | KRAS CL E G H | 3845 | 6407 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | | | | 196 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | LACC1 CL E G H | 144811 | 26789 | OMIM:618795 | JUVENILE ARTHRITIS; JUVAR | | | | 1 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | LAMTOR2 CL E G H | 28956 | 29796 | OMIM:610798 | Immunodeficiency due to defect in mapbp-interacting protein | | | | 1 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | LAMTOR2 CL E G H | 28956 | 29796 | ORPHA:90023 | Primary immunodeficiency syndrome due to LAMTOR2 deficiency | | | | 1 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | LAT CL E G H | 27040 | 18874 | OMIM:617514 | Immunodeficiency 52 | | | | 2 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | LBR CL E G H | 3930 | 6518 | OMIM:169400 | Pelger-Huet anomaly | | | | 70 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | LCK CL E G H | 3932 | 6524 | OMIM:615758 | Immunodeficiency 22 | | | | 1 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | | | | 47 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | | | | 46 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | LIG1 CL E G H | 3978 | 6598 | OMIM:619774 | IMMUNODEFICIENCY 96; IMD96 | | | | 9 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | LIG4 CL E G H | 3981 | 6601 | ORPHA:99812 | LIG4 syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | LIG4 CL E G H | 3981 | 6601 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | LIG4 CL E G H | 3981 | 6601 | ORPHA:39041 | Omenn syndrome | | | | 88 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | LIPA CL E G H | 3988 | 6617 | OMIM:278000 | Lysosomal acid lipase deficiency | | | | 73 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | LMBRD1 CL E G H | 55788 | 23038 | ORPHA:79284 | Methylmalonic acidemia with homocystinuria type cblF | | | | 46 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | LMBRD1 CL E G H | 55788 | 23038 | OMIM:277380 | Methylmalonic aciduria and homocystinuria, Cblf type | | | | 46 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | LMNB2 CL E G H | 84823 | 6638 | ORPHA:79087 | Acquired partial lipodystrophy | | | | 11 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | LMNB2 CL E G H | 84823 | 6638 | ORPHA:79087 | Acquired partial lipodystrophy | | | | 11 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | LPIN2 CL E G H | 9663 | 14450 | ORPHA:77297 | Majeed syndrome | HP:0040282 - Frequent | | | 186 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | LRRC8A CL E G H | 56262 | 19027 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 3 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | | | | 239 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | LYST CL E G H | 1130 | 1968 | OMIM:214500 | Chediak-Higashi syndrome | | | | 239 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | LYST CL E G H | 1130 | 1968 | OMIM:214500 | Chediak-Higashi syndrome | . | | | 239 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 1 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | MAD2L2 CL E G H | 10459 | 6764 | OMIM:617243 | Fanconi anemia, complementation group V | | | | 1 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | MAGT1 CL E G H | 84061 | 28880 | OMIM:300853 | IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN | | | | 17 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | MCM10 CL E G H | 55388 | 18043 | OMIM:619313 | IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80 | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | MDM4 CL E G H | 4194 | 6974 | OMIM:618849 | BONE MARROW FAILURE SYNDROME 6; BMFS6 | | | | 1 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | MDM4 CL E G H | 4194 | 6974 | OMIM:618849 | BONE MARROW FAILURE SYNDROME 6; BMFS6 | | | | 1 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | MECOM CL E G H | 2122 | 3498 | OMIM:616738 | RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2 | | | | 4 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | MEFV CL E G H | 4210 | 6998 | OMIM:249100 | Familial Mediterranean fever, AR | | | | 281 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | MEFV CL E G H | 4210 | 6998 | OMIM:249100 | Familial Mediterranean fever, AR | | | | 281 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | MEFV CL E G H | 4210 | 6998 | ORPHA:3243 | Sweet syndrome | HP:0040282 - Frequent | | | 281 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | MEFV CL E G H | 4210 | 6998 | ORPHA:3243 | Sweet syndrome | | | | 281 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | | | | 14 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | MMAA CL E G H | 166785 | 18871 | OMIM:251100 | Methylmalonic aciduria, Cbla type | | | | 113 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | MMAB CL E G H | 326625 | 19331 | OMIM:251110 | Methylmalonic aciduria, Cblb type | | | | 127 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | | | | 101 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | MMACHC CL E G H | 25974 | 24525 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | | | | 101 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | MMUT CL E G H | 4594 | 7526 | OMIM:251000 | Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency | | | | | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | MMUT CL E G H | 4594 | 7526 | OMIM:251000 | Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency | . | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | MMUT CL E G H | 4594 | 7526 | ORPHA:79312 | Vitamin B12-unresponsive methylmalonic acidemia type mut- | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | MMUT CL E G H | 4594 | 7526 | ORPHA:289916 | Vitamin B12-unresponsive methylmalonic acidemia type mut0 | | | | | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | MPL CL E G H | 4352 | 7217 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 97 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | | | | 9 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | MS4A1 CL E G H | 931 | 7315 | ORPHA:1572 | Common variable immunodeficiency | | | | 1 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | MSN CL E G H | 4478 | 7373 | OMIM:300988 | Immunodeficiency 50 | | | | 2 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | MSN CL E G H | 4478 | 7373 | OMIM:300988 | Immunodeficiency 50 | | | | 2 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | MTHFD1 CL E G H | 4522 | 7432 | OMIM:617780 | Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | | | | 5 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | MTRR CL E G H | 4552 | 7473 | ORPHA:2169 | Methylcobalamin deficiency type cblE | | | | 88 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | MVK CL E G H | 4598 | 7530 | OMIM:260920 | Hyper-Igd syndrome | | | | 150 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | MVK CL E G H | 4598 | 7530 | OMIM:260920 | Hyper-Igd syndrome | | | | 150 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | MVK CL E G H | 4598 | 7530 | OMIM:610377 | Mevalonic aciduria | | | | 150 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | MYC CL E G H | 4609 | 7553 | ORPHA:543 | Burkitt lymphoma | | | | 11 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | MYD88 CL E G H | 4615 | 7562 | OMIM:612260 | MYD88 DEFICIENCY; MYD88D | | | | 9 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | MYSM1 CL E G H | 114803 | 29401 | OMIM:618116 | Bone marrow failure syndrome 4 | . | | | | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | MYSM1 CL E G H | 114803 | 29401 | ORPHA:508542 | Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome | HP:0040282 - Frequent | | | | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | MYSM1 CL E G H | 114803 | 29401 | ORPHA:508542 | Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | MYSM1 CL E G H | 114803 | 29401 | ORPHA:508542 | Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome | | | | | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | NABP1 CL E G H | 64859 | 26232 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | NABP1 CL E G H | 64859 | 26232 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | NABP1 CL E G H | 64859 | 26232 | ORPHA:520 | Acute promyelocytic leukemia | | | | | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | NBN CL E G H | 4683 | 7652 | OMIM:251260 | Nijmegen breakage syndrome | | | | 706 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | NCKAP1L CL E G H | 3071 | 4862 | OMIM:618982 | IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72 | | | | | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | NCKAP1L CL E G H | 3071 | 4862 | OMIM:618982 | IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72 | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | NDUFA6 CL E G H | 4700 | 7690 | OMIM:618253 | Mitochondrial complex I deficiency, nuclear type 33 | | | | 1 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | NFKB1 CL E G H | 4790 | 7794 | ORPHA:1572 | Common variable immunodeficiency | | | | 7 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:1572 | Common variable immunodeficiency | | | | 11 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | | | | 11 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | NHEJ1 CL E G H | 79840 | 25737 | ORPHA:169079 | Cernunnos-XLF deficiency | | | | 20 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | NHLRC2 CL E G H | 374354 | 24731 | OMIM:618278 | Fibrosis, neurodegeneration, and cerebral angiomatosis | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | NLRP1 CL E G H | 22861 | 14374 | OMIM:617388 | AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK | | | | 37 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | NLRP1 CL E G H | 22861 | 14374 | OMIM:617388 | AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK | | | | 37 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | NLRP12 CL E G H | 91662 | 22938 | OMIM:611762 | Familial cold autoinflammatory syndrome 2 | | | | 99 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:1451 | CINCA syndrome | HP:0040282 - Frequent | | | 217 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | NLRP3 CL E G H | 114548 | 16400 | OMIM:607115 | CINCA SYNDROME; CINCA | | | | 217 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | NLRP3 CL E G H | 114548 | 16400 | OMIM:607115 | CINCA SYNDROME; CINCA | | | | 217 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | NLRP3 CL E G H | 114548 | 16400 | OMIM:120100 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1 | | | | 217 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | NLRP3 CL E G H | 114548 | 16400 | OMIM:191900 | Muckle-Wells syndrome | | | | 217 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | NOTCH1 CL E G H | 4851 | 7881 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 452 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | NPM1 CL E G H | 4869 | 7910 | ORPHA:520 | Acute promyelocytic leukemia | | | | 12 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | NPM1 CL E G H | 4869 | 7910 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 12 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | NPM1 CL E G H | 4869 | 7910 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 12 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | NRAS CL E G H | 4893 | 7989 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | | | | 102 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | NRAS CL E G H | 4893 | 7989 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | | | | 102 | | |
HP:0011893 | HP:0012310 | Abnormal monocyte count | 1 | NRAS CL E G H | 4893 | 7989 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | | | | 102 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | NRAS CL E G H | 4893 | 7989 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | | | | 102 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | NSMCE3 CL E G H | 56160 | 7677 | OMIM:617241 | LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS | | | | 2 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | NUMA1 CL E G H | 4926 | 8059 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | NUMA1 CL E G H | 4926 | 8059 | ORPHA:520 | Acute promyelocytic leukemia | | | | | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | NUMA1 CL E G H | 4926 | 8059 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | OAS1 CL E G H | 4938 | 8086 | OMIM:618042 | Pulmonary alveolar proteinosis with hypogammaglobulinemia | | | | 2 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | OSTM1 CL E G H | 28962 | 21652 | OMIM:259720 | Osteopetrosis, autosomal recessive 5 | | | | 73 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | OTULIN CL E G H | 90268 | 25118 | OMIM:617099 | AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS | | | | 3 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | OTULIN CL E G H | 90268 | 25118 | OMIM:617099 | AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS | | | | 3 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | OTULIN CL E G H | 90268 | 25118 | OMIM:617099 | AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS | | | | 3 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | PACS2 CL E G H | 23241 | 23794 | OMIM:618067 | Epileptic encephalopathy, early infantile, 66 | | | | | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | PALB2 CL E G H | 79728 | 26144 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 1349 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | PCCA CL E G H | 5095 | 8653 | OMIM:606054 | Propionic acidemia | | | | 96 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | PCCB CL E G H | 5096 | 8654 | OMIM:606054 | Propionic acidemia | | | | 92 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | PDGFRA CL E G H | 5156 | 8803 | OMIM:607685 | Hypereosinophilic syndrome, idiopathic | | | | 337 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | PDGFRA CL E G H | 5156 | 8803 | OMIM:607685 | Hypereosinophilic syndrome, idiopathic | | | | 337 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | PDGFRB CL E G H | 5159 | 8804 | OMIM:131440 | Myeloproliferative disorder, chronic, with eosinophilia | | | | 28 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | PDGFRB CL E G H | 5159 | 8804 | OMIM:131440 | Myeloproliferative disorder, chronic, with eosinophilia | | | | 28 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | PGM3 CL E G H | 5238 | 8907 | OMIM:615816 | Immunodeficiency 23 | | | | 15 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | PGM3 CL E G H | 5238 | 8907 | OMIM:615816 | Immunodeficiency 23 | | | | 15 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | PGM3 CL E G H | 5238 | 8907 | OMIM:615816 | Immunodeficiency 23 | | | | 15 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | | | | 15 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | | | | 15 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | | | | 15 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040283 - Occasional | | | 15 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | PI4KA CL E G H | 5297 | 8983 | OMIM:619708 | GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2 | | | | 11 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | PIGA CL E G H | 5277 | 8957 | ORPHA:447 | Paroxysmal nocturnal hemoglobinuria | HP:0040283 - Occasional | | | 46 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | PIK3CD CL E G H | 5293 | 8977 | OMIM:615513 | IMMUNODEFICIENCY 14; IMD14 | | | | 9 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | PIK3CD CL E G H | 5293 | 8977 | OMIM:619281 | IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B | | | | 9 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | PIK3CD CL E G H | 5293 | 8977 | OMIM:619281 | IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B | | | | 9 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | PIK3CD CL E G H | 5293 | 8977 | OMIM:619281 | IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B | | | | 9 | | |
HP:0011893 | HP:0012310 | Abnormal monocyte count | 1 | PIK3CD CL E G H | 5293 | 8977 | OMIM:619281 | IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B | | | | 9 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0011893 | HP:0012310 | Abnormal monocyte count | 1 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:615214 | Agammaglobulinemia 7, autosomal recessive | | | | 43 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 43 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | | | | 43 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:53035 | Caroli disease | HP:0040283 - Occasional | | | 563 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | PLCG2 CL E G H | 5336 | 9066 | OMIM:614878 | Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated | | | | 21 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | PML CL E G H | 5371 | 9113 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 3 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | PML CL E G H | 5371 | 9113 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 3 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | PML CL E G H | 5371 | 9113 | ORPHA:520 | Acute promyelocytic leukemia | | | | 3 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | PNP CL E G H | 4860 | 7892 | OMIM:613179 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | | | | 52 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | PNP CL E G H | 4860 | 7892 | OMIM:613179 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | | | | 52 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | PNP CL E G H | 4860 | 7892 | ORPHA:760 | Purine nucleoside phosphorylase deficiency | | | | 52 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | POMP CL E G H | 51371 | 20330 | OMIM:618048 | Proteasome-Associated autoinflammatory syndrome 2 | | | | 2 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | PPIL1 CL E G H | 51645 | 9260 | OMIM:619301 | PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14 | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | PRDX1 CL E G H | 5052 | 9352 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | PRF1 CL E G H | 5551 | 9360 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 58 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | . | | | 58 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | PRF1 CL E G H | 5551 | 9360 | ORPHA:88 | Idiopathic aplastic anemia | | | | 58 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | PRIM1 CL E G H | 5557 | 9369 | OMIM:620005 | | | | | | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 134 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:520 | Acute promyelocytic leukemia | | | | 134 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 134 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 10 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 10 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 10 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | PRKCD CL E G H | 5580 | 9399 | ORPHA:1572 | Common variable immunodeficiency | | | | 10 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | PRSS1 CL E G H | 5644 | 9475 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040281 - Very frequent | | | 51 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | PRSS2 CL E G H | 5645 | 9483 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040281 - Very frequent | | | 1 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | PSMB4 CL E G H | 5692 | 9541 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | | | | | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | PSMB9 CL E G H | 5698 | 9546 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | | | | | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | PTEN CL E G H | 5728 | 9588 | OMIM:158350 | Cowden syndrome 1 | | | | 948 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | PTEN CL E G H | 5728 | 9588 | OMIM:605309 | Macrocephaly/autism syndrome | | | | 948 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | PTPN22 CL E G H | 26191 | 9652 | OMIM:152700 | Systemic lupus erythematosus | . | | | 3 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | PTPRC CL E G H | 5788 | 9666 | OMIM:619924 | | | | | 25 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | PTPRC CL E G H | 5788 | 9666 | OMIM:619924 | | | | | 25 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RAB27A CL E G H | 5873 | 9766 | ORPHA:79477 | Griscelli syndrome type 2 | | | | 67 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0011893 | HP:0012310 | Abnormal monocyte count | 1 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | RAC2 CL E G H | 5880 | 9802 | OMIM:618987 | IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C | | | | 9 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RAC2 CL E G H | 5880 | 9802 | OMIM:608203 | NEUTROPHIL IMMUNODEFICIENCY SYNDROME | | | | 9 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | RAC2 CL E G H | 5880 | 9802 | ORPHA:183707 | Neutrophil immunodeficiency syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | RAC2 CL E G H | 5880 | 9802 | OMIM:608203 | NEUTROPHIL IMMUNODEFICIENCY SYNDROME | | | | 9 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | RAC2 CL E G H | 5880 | 9802 | OMIM:608203 | NEUTROPHIL IMMUNODEFICIENCY SYNDROME | | | | 9 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | RAD51 CL E G H | 5888 | 9817 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 9 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | RAD51C CL E G H | 5889 | 9820 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 391 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | RAG1 CL E G H | 5896 | 9831 | OMIM:233650 | Combined cellular and humoral immune defects with granulomas | | | | 127 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | RAG1 CL E G H | 5896 | 9831 | ORPHA:231154 | Combined immunodeficiency due to partial RAG1 deficiency | | | | 127 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RAG1 CL E G H | 5896 | 9831 | ORPHA:231154 | Combined immunodeficiency due to partial RAG1 deficiency | | | | 127 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | RAG1 CL E G H | 5896 | 9831 | OMIM:603554 | Omenn syndrome | | | | 127 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RAG1 CL E G H | 5896 | 9831 | OMIM:603554 | Omenn syndrome | | | | 127 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | RAG1 CL E G H | 5896 | 9831 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 127 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | RAG1 CL E G H | 5896 | 9831 | OMIM:603554 | Omenn syndrome | | | | 127 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RAG1 CL E G H | 5896 | 9831 | ORPHA:39041 | Omenn syndrome | | | | 127 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | | | | 127 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | | | | 127 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | | | | 127 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | RAG1 CL E G H | 5896 | 9831 | OMIM:601457 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | | | 127 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | RAG2 CL E G H | 5897 | 9832 | OMIM:233650 | Combined cellular and humoral immune defects with granulomas | | | | 50 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | RAG2 CL E G H | 5897 | 9832 | OMIM:603554 | Omenn syndrome | | | | 50 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RAG2 CL E G H | 5897 | 9832 | OMIM:603554 | Omenn syndrome | | | | 50 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | RAG2 CL E G H | 5897 | 9832 | OMIM:603554 | Omenn syndrome | | | | 50 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | RAG2 CL E G H | 5897 | 9832 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 50 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RAG2 CL E G H | 5897 | 9832 | ORPHA:39041 | Omenn syndrome | | | | 50 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | | | | 50 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | | | | 50 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | | | | 50 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | RAG2 CL E G H | 5897 | 9832 | OMIM:601457 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | | | 50 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | RARA CL E G H | 5914 | 9864 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 2 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | RARA CL E G H | 5914 | 9864 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 2 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RARA CL E G H | 5914 | 9864 | ORPHA:520 | Acute promyelocytic leukemia | | | | 2 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | RBCK1 CL E G H | 10616 | 15864 | OMIM:615895 | Polyglucosan body myopathy 1 with or without immunodeficiency | | | | 10 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | RBPJ CL E G H | 3516 | 5724 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:221016 | Rothmund-Thomson syndrome type 2 | | | | 445 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | REL CL E G H | 5966 | 9954 | OMIM:619652 | IMMUNODEFICIENCY 92; IMD92 | | | | 1 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | REL CL E G H | 5966 | 9954 | OMIM:619652 | IMMUNODEFICIENCY 92; IMD92 | | | | 1 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | RFWD3 CL E G H | 55159 | 25539 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RFX5 CL E G H | 5993 | 9986 | OMIM:209920 | Bare lymphocyte syndrome, type II | | | | 38 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RFX5 CL E G H | 5993 | 9986 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 38 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | RFX5 CL E G H | 5993 | 9986 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 38 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RFXANK CL E G H | 8625 | 9987 | OMIM:209920 | Bare lymphocyte syndrome, type II | | | | 26 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | RFXANK CL E G H | 8625 | 9987 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 26 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RFXANK CL E G H | 8625 | 9987 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 26 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RFXAP CL E G H | 5994 | 9988 | OMIM:209920 | Bare lymphocyte syndrome, type II | | | | 34 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RFXAP CL E G H | 5994 | 9988 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 34 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | RFXAP CL E G H | 5994 | 9988 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 34 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | RIPK1 CL E G H | 8737 | 10019 | OMIM:618108 | IMMUNODEFICIENCY 57; IMD57 | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RMRP CL E G H | 6023 | 10031 | ORPHA:175 | Cartilage-hair hypoplasia | | | | 37 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RMRP CL E G H | 6023 | 10031 | OMIM:250250 | Cartilage-Hair hypoplasia | | | | 37 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | RMRP CL E G H | 6023 | 10031 | OMIM:250250 | Cartilage-Hair hypoplasia | | | | 37 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | RMRP CL E G H | 6023 | 10031 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RMRP CL E G H | 6023 | 10031 | ORPHA:39041 | Omenn syndrome | | | | 37 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | RNASEH2B CL E G H | 79621 | 25671 | OMIM:610181 | Aicardi-Goutieres syndrome 2 | | | | 34 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | RNASEH2B CL E G H | 79621 | 25671 | OMIM:610181 | Aicardi-Goutieres syndrome 2 | | | | 34 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | | | | 15 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | | | | 15 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:616651 | Roifman syndrome | | | | 15 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:616651 | Roifman syndrome | | | | 15 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | RPA1 CL E G H | 6117 | 10289 | OMIM:619767 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6 | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 22 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RPL11 CL E G H | 6135 | 10301 | OMIM:612562 | Diamond-Blackfan anemia 7 | | | | 22 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 3 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RPL18 CL E G H | 6141 | 10310 | OMIM:618310 | DIAMOND-BLACKFAN ANEMIA 18; DBA18 | | | | | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 3 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RPL26 CL E G H | 6154 | 10327 | OMIM:614900 | Diamond-Blackfan anemia 11 | | | | 3 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 11 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | | | | 11 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | RPL35A CL E G H | 6165 | 10345 | OMIM:612528 | Diamond-Blackfan anemia 5 | | | | 11 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | | | | 40 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 40 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 26 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | | | | 26 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | RPS14 CL E G H | 6208 | 10387 | ORPHA:86841 | Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality | HP:0040283 - Occasional | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | | | | 5 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 5 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RPS17 CL E G H | 6218 | 10397 | OMIM:612527 | Diamond-Blackfan anemia 4 | | | | 5 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 42 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | | | | 42 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | | | | 42 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 22 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 20 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | | | | 20 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RPS28 CL E G H | 6234 | 10418 | OMIM:606164 | Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | | | | 1 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 3 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | | | | 20 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 20 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RPS7 CL E G H | 6201 | 10440 | OMIM:612563 | Diamond-Blackfan anemia 8 | | | | 20 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | RRAS2 CL E G H | 22800 | 17271 | OMIM:618624 | NOONAN SYNDROME 12; NS12 | | | | 1 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | RTEL1 CL E G H | 51750 | 15888 | OMIM:615190 | Dyskeratosis congenita, autosomal recessive 5 | . | | | 77 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | RUNX1 CL E G H | 861 | 10471 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 181 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | RUNX1 CL E G H | 861 | 10471 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 181 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | RUNX1 CL E G H | 861 | 10471 | ORPHA:521 | Chronic myeloid leukemia | HP:0040282 - Frequent | | | 181 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | SALL4 CL E G H | 57167 | 15924 | ORPHA:2307 | IVIC syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | SALL4 CL E G H | 57167 | 15924 | OMIM:147750 | Ivic syndrome | . | | | 86 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | | | | 8 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | SAMD9 CL E G H | 54809 | 1348 | OMIM:619041 | MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2 | | | | 8 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | SAMD9L CL E G H | 219285 | 1349 | OMIM:159550 | Ataxia-Pancytopenia syndrome | | | | 4 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | SARS2 CL E G H | 54938 | 17697 | OMIM:613845 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome | . | | | 60 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | SBDS CL E G H | 51119 | 19440 | ORPHA:88 | Idiopathic aplastic anemia | | | | 26 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 26 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | 26 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | SBDS CL E G H | 51119 | 19440 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | 26 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | SCARB2 CL E G H | 950 | 1665 | ORPHA:77259 | Gaucher disease type 1 | HP:0040283 - Occasional | | | 77 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | SEC61A1 CL E G H | 29927 | 18276 | OMIM:617056 | Tubulointerstitial kidney disease, autosomal dominant, 5 | | | | 2 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | | | | 19 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | HP:0040284 - Very rare | | | 19 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | SGPL1 CL E G H | 8879 | 10817 | OMIM:617575 | Nephrotic syndrome, type 14 | | | | 8 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | SH2D1A CL E G H | 4068 | 10820 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 37 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | SH2D1A CL E G H | 4068 | 10820 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 37 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | SH2D1A CL E G H | 4068 | 10820 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 37 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | | | | | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | | | | | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | SLC27A4 CL E G H | 10999 | 10998 | ORPHA:88621 | Ichthyosis-prematurity syndrome | | | | 26 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | SLC27A4 CL E G H | 10999 | 10998 | ORPHA:88621 | Ichthyosis-prematurity syndrome | | | | 26 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | SLC35A1 CL E G H | 10559 | 11021 | OMIM:603585 | Congenital disorder of glycosylation, type IIf | | | | 24 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | SLC35A1 CL E G H | 10559 | 11021 | ORPHA:238459 | SLC35A1-CDG | | | | 24 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | SLC35C1 CL E G H | 55343 | 20197 | OMIM:266265 | Congenital disorder of glycosylation, type IIc | | | | 71 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | HP:0040281 - Very frequent | | | 71 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | | | | 71 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | SLC37A4 CL E G H | 2542 | 4061 | ORPHA:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | | | | 110 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232220 | Glycogen storage disease ib | | | | 110 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232240 | GLYCOGEN STORAGE DISEASE Ic | | | | 110 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | SLC39A7 CL E G H | 7922 | 4927 | OMIM:619693 | AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9 | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | SLC46A1 CL E G H | 113235 | 30521 | OMIM:229050 | Folate malabsorption, hereditary | | | | 101 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | SLC46A1 CL E G H | 113235 | 30521 | OMIM:229050 | Folate malabsorption, hereditary | . | | | 101 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | SLC46A1 CL E G H | 113235 | 30521 | ORPHA:90045 | Hereditary folate malabsorption | | | | 101 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | SLC46A1 CL E G H | 113235 | 30521 | ORPHA:90045 | Hereditary folate malabsorption | | | | 101 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | HP:0040282 - Frequent | | | 104 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | SLC7A7 CL E G H | 9056 | 11065 | OMIM:222700 | Lysinuric protein intolerance | . | | | 104 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | SLX4 CL E G H | 84464 | 23845 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 274 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | | | | 74 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | | | | 74 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | | | | 74 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | | | | 74 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | SMARCD2 CL E G H | 6603 | 11107 | OMIM:617475 | SPECIFIC GRANULE DEFICIENCY 2; SGD2 | | | | 3 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | SOCS1 CL E G H | 8651 | 19383 | OMIM:619375 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD | | | | 6 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | HP:0040281 - Very frequent | | | 49 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | SPI1 CL E G H | 6688 | 11241 | OMIM:619707 | AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10 | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | SPI1 CL E G H | 6688 | 11241 | OMIM:619707 | AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10 | | | | | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | SPINK1 CL E G H | 6690 | 11244 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040281 - Very frequent | | | 34 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | SPINK5 CL E G H | 11005 | 15464 | OMIM:256500 | Netherton syndrome | | | | 100 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | SPINK5 CL E G H | 11005 | 15464 | OMIM:256500 | Netherton syndrome | | | | 100 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | SPP1 CL E G H | 6696 | 11255 | ORPHA:93552 | Pediatric systemic lupus erythematosus | | | | | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | SPP1 CL E G H | 6696 | 11255 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040282 - Frequent | | | | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | SPRED2 CL E G H | 200734 | 17722 | OMIM:619745 | NOONAN SYNDROME 14; NS14 | | | | | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | SREBF1 CL E G H | 6720 | 11289 | OMIM:158310 | Mucoepithelial dysplasia, hereditary | | | | 1 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | SREBF1 CL E G H | 6720 | 11289 | OMIM:158310 | Mucoepithelial dysplasia, hereditary | | | | 1 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | SRP54 CL E G H | 6729 | 11301 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | SRP54 CL E G H | 6729 | 11301 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | SRP54 CL E G H | 6729 | 11301 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | | | |
HP:0011893 | HP:0012310 | Abnormal monocyte count | 1 | SRP54 CL E G H | 6729 | 11301 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | SRP54 CL E G H | 6729 | 11301 | OMIM:618752 | NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8 | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | | | | | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | SRP54 CL E G H | 6729 | 11301 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 1 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 1 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | | | | 1 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 1 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | 89 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | 89 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | STAT1 CL E G H | 6772 | 11362 | OMIM:614162 | Immunodeficiency 31C | | | | 89 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | STAT2 CL E G H | 6773 | 11363 | OMIM:616636 | Immunodeficiency 44 | | | | 9 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | STAT2 CL E G H | 6773 | 11363 | OMIM:618886 | PSEUDO-TORCH SYNDROME 3; PTORCH3 | | | | 9 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | STAT3 CL E G H | 6774 | 11364 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 110 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | STAT3 CL E G H | 6774 | 11364 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 110 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | STAT3 CL E G H | 6774 | 11364 | ORPHA:520 | Acute promyelocytic leukemia | | | | 110 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | STAT3 CL E G H | 6774 | 11364 | OMIM:615952 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1 | | | | 110 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | STAT3 CL E G H | 6774 | 11364 | ORPHA:2314 | Autosomal dominant hyper-IgE syndrome | | | | 110 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | STAT3 CL E G H | 6774 | 11364 | ORPHA:2314 | Autosomal dominant hyper-IgE syndrome | | | | 110 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | STAT3 CL E G H | 6774 | 11364 | OMIM:147060 | Hyper-IgE recurrent infection syndrome | | | | 110 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | STAT3 CL E G H | 6774 | 11364 | OMIM:147060 | Hyper-IgE recurrent infection syndrome | | | | 110 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | STAT4 CL E G H | 6775 | 11365 | ORPHA:93552 | Pediatric systemic lupus erythematosus | | | | 2 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | STAT4 CL E G H | 6775 | 11365 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040282 - Frequent | | | 2 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | STAT5B CL E G H | 6777 | 11367 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 12 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | STAT5B CL E G H | 6777 | 11367 | ORPHA:520 | Acute promyelocytic leukemia | | | | 12 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | STAT5B CL E G H | 6777 | 11367 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 12 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | STING1 CL E G H | 340061 | 27962 | OMIM:615934 | STING-associated vasculopathy, infantile-onset | | | | | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | STING1 CL E G H | 340061 | 27962 | OMIM:615934 | STING-associated vasculopathy, infantile-onset | | | | | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | STK4 CL E G H | 6789 | 11408 | OMIM:614868 | T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS | | | | 4 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | STK4 CL E G H | 6789 | 11408 | OMIM:614868 | T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS | | | | 4 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | STX11 CL E G H | 8676 | 11429 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 85 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | STX11 CL E G H | 8676 | 11429 | OMIM:603552 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 | | | | 85 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | STXBP2 CL E G H | 6813 | 11445 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 70 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | TAFAZZIN CL E G H | 6901 | 11577 | OMIM:302060 | Barth syndrome | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | TBK1 CL E G H | 29110 | 11584 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040282 - Frequent | | | 20 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | TBK1 CL E G H | 29110 | 11584 | ORPHA:1930 | Herpes simplex virus encephalitis | | | | 20 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:520 | Acute promyelocytic leukemia | | | | 22 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 22 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 22 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | TBX21 CL E G H | 30009 | 11599 | OMIM:619630 | IMMUNODEFICIENCY 88; IMD88 | | | | 1 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | TBX21 CL E G H | 30009 | 11599 | OMIM:619630 | IMMUNODEFICIENCY 88; IMD88 | | | | 1 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | TBXAS1 CL E G H | 6916 | 11609 | OMIM:231095 | Ghosal hematodiaphyseal dysplasia | HP:0040283 - Occasional | | | 16 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | TCF3 CL E G H | 6929 | 11633 | OMIM:616941 | Agammaglobulinemia 8, autosomal dominant | | | | 2 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | TCF3 CL E G H | 6929 | 11633 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 2 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 82 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 82 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 82 | | |
HP:0011893 | HP:0012310 | Abnormal monocyte count | 1 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 82 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | TCN2 CL E G H | 6948 | 11653 | ORPHA:859 | Transcobalamin deficiency | | | | 57 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | TCN2 CL E G H | 6948 | 11653 | ORPHA:859 | Transcobalamin deficiency | | | | 57 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | TCN2 CL E G H | 6948 | 11653 | OMIM:275350 | Transcobalamin II deficiency | | | | 57 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | TDP2 CL E G H | 51567 | 17768 | OMIM:616949 | Spinocerebellar ataxia, autosomal recessive 23 | | | | 3 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | TERC CL E G H | 7012 | 11727 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | | | | 48 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | TERC CL E G H | 7012 | 11727 | ORPHA:88 | Idiopathic aplastic anemia | | | | 48 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | TERT CL E G H | 7015 | 11730 | OMIM:613989 | Dyskeratosis congenita, autosomal dominant 2 | | | | 238 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | TERT CL E G H | 7015 | 11730 | OMIM:613989 | Dyskeratosis congenita, autosomal dominant 2 | . | | | 238 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | TERT CL E G H | 7015 | 11730 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | | | | 238 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:88 | Idiopathic aplastic anemia | | | | 238 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | | | | 3 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 3 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 3 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | TET2 CL E G H | 54790 | 25941 | OMIM:619126 | IMMUNODEFICIENCY 75; IMD75 | | | | 3 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 3 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:98826 | Refractory anemia | | | | 3 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 3 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | | | | 3 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | TFR2 CL E G H | 7036 | 11762 | OMIM:604250 | Hemochromatosis, type 3 | | | | 67 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | TFR2 CL E G H | 7036 | 11762 | OMIM:604250 | Hemochromatosis, type 3 | | | | 67 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | TFRC CL E G H | 7037 | 11763 | OMIM:616740 | Immunodeficiency 46 | | | | 1 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:1328 | Camurati-Engelmann disease | HP:0040283 - Occasional | | | 13 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | TGFB1 CL E G H | 7040 | 11766 | OMIM:618213 | INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE | | | | 13 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | TICAM1 CL E G H | 148022 | 18348 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040282 - Frequent | | | 6 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | TICAM1 CL E G H | 148022 | 18348 | ORPHA:1930 | Herpes simplex virus encephalitis | | | | 6 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | TINF2 CL E G H | 26277 | 11824 | OMIM:613990 | Dyskeratosis congenita, autosomal dominant 3 | . | | | 60 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | TINF2 CL E G H | 26277 | 11824 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | | | | 60 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | TLR3 CL E G H | 7098 | 11849 | ORPHA:1930 | Herpes simplex virus encephalitis | | | | 3 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | TLR3 CL E G H | 7098 | 11849 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040282 - Frequent | | | 3 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | TLR7 CL E G H | 51284 | 15631 | OMIM:301080 | | | | | | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | TLR7 CL E G H | 51284 | 15631 | OMIM:301080 | | | | | | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | TNFAIP3 CL E G H | 7128 | 11896 | OMIM:616744 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL | | | | 26 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | TNFRSF13B CL E G H | 23495 | 18153 | ORPHA:1572 | Common variable immunodeficiency | | | | 32 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | TNFRSF13C CL E G H | 115650 | 17755 | ORPHA:1572 | Common variable immunodeficiency | | | | 12 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | TNFRSF1A CL E G H | 7132 | 11916 | ORPHA:32960 | Tumor necrosis factor receptor 1 associated periodic syndrome | HP:0040282 - Frequent | | | 131 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | TNFSF12 CL E G H | 8742 | 11927 | ORPHA:1572 | Common variable immunodeficiency | | | | 1 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | TOM1 CL E G H | 10043 | 11982 | OMIM:619510 | IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85 | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | TONSL CL E G H | 4796 | 7801 | OMIM:271510 | Spondyloepimetaphyseal dysplasia, Sponastrime type | | | | | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | TPP2 CL E G H | 7174 | 12016 | ORPHA:444463 | Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | TPP2 CL E G H | 7174 | 12016 | OMIM:619220 | IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78 | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | TRAC CL E G H | 28755 | 12029 | OMIM:615387 | T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY | | | | 1 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | TRAC CL E G H | 28755 | 12029 | OMIM:615387 | T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY | | | | 1 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | TRAF3 CL E G H | 7187 | 12033 | ORPHA:1930 | Herpes simplex virus encephalitis | | | | 2 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | TRAF3 CL E G H | 7187 | 12033 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040282 - Frequent | | | 2 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | TREX1 CL E G H | 11277 | 12269 | OMIM:152700 | Systemic lupus erythematosus | . | | | 56 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | TRNT1 CL E G H | 51095 | 17341 | OMIM:616084 | SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD | | | | 28 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | TTC7A CL E G H | 57217 | 19750 | OMIM:243150 | Gastrointestinal defects and immunodeficiency syndrome | | | | 26 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | TTC7A CL E G H | 57217 | 19750 | OMIM:243150 | Gastrointestinal defects and immunodeficiency syndrome | | | | 26 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | TTI2 CL E G H | 80185 | 26262 | ORPHA:391307 | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | | | | 11 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | | | | 7 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | UBE2T CL E G H | 29089 | 25009 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 2 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | UNC119 CL E G H | 9094 | 12565 | OMIM:615518 | IMMUNODEFICIENCY 13; IMD13 | | | | 30 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | UNC13D CL E G H | 201294 | 23147 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 116 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | UNC13D CL E G H | 201294 | 23147 | OMIM:608898 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3 | | | | 116 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | UNC93B1 CL E G H | 81622 | 13481 | ORPHA:1930 | Herpes simplex virus encephalitis | | | | 5 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | UNC93B1 CL E G H | 81622 | 13481 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040282 - Frequent | | | 5 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040283 - Occasional | | | 41 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | USB1 CL E G H | 79650 | 25792 | OMIM:604173 | Poikiloderma with neutropenia | | | | 8 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | USB1 CL E G H | 79650 | 25792 | OMIM:604173 | Poikiloderma with neutropenia | | | | 8 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | VPS13B CL E G H | 157680 | 2183 | ORPHA:193 | Cohen syndrome | | | | 546 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | VPS13B CL E G H | 157680 | 2183 | OMIM:216550 | Cohen syndrome | | | | 546 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | VPS13B CL E G H | 157680 | 2183 | OMIM:216550 | Cohen syndrome | . | | | 546 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | VPS33A CL E G H | 65082 | 18179 | ORPHA:505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | HP:0040282 - Frequent | | | 1 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | VPS33A CL E G H | 65082 | 18179 | OMIM:617303 | Mucopolysaccharidosis-Plus syndrome | | | | 1 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | VPS33A CL E G H | 65082 | 18179 | OMIM:617303 | Mucopolysaccharidosis-Plus syndrome | | | | 1 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | VPS45 CL E G H | 11311 | 14579 | OMIM:615285 | Neutropenia, severe congenital, 5, autosomal recessive | . | | | 7 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | VPS45 CL E G H | 11311 | 14579 | OMIM:615285 | Neutropenia, severe congenital, 5, autosomal recessive | | | | 7 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | WAS CL E G H | 7454 | 12731 | OMIM:300299 | Neutropenia, severe congenital, X-linked | | | | 65 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | WAS CL E G H | 7454 | 12731 | OMIM:300299 | Neutropenia, severe congenital, X-linked | | | | 65 | | |
HP:0011893 | HP:0012310 | Abnormal monocyte count | 1 | WAS CL E G H | 7454 | 12731 | OMIM:300299 | Neutropenia, severe congenital, X-linked | | | | 65 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0011893 | HP:0012310 | Abnormal monocyte count | 1 | WAS CL E G H | 7454 | 12731 | ORPHA:86788 | X-linked severe congenital neutropenia | | | | 65 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | WAS CL E G H | 7454 | 12731 | ORPHA:86788 | X-linked severe congenital neutropenia | | | | 65 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | | | | 6 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | | | | 6 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | WIPF1 CL E G H | 7456 | 12736 | OMIM:614493 | WISKOTT-ALDRICH SYNDROME 2; WAS2 | | | | 6 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | XIAP CL E G H | 331 | 592 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 81 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | XIAP CL E G H | 331 | 592 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 81 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | XIAP CL E G H | 331 | 592 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 81 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 125 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | XRCC4 CL E G H | 7518 | 12831 | ORPHA:99812 | LIG4 syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | XRCC4 CL E G H | 7518 | 12831 | OMIM:616541 | Short stature, microcephaly, and endocrine dysfunction | | | | 9 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | ZAP70 CL E G H | 7535 | 12858 | OMIM:617006 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2 | | | | 46 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | | | | 46 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | | | | 46 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | | | | 46 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | ZAP70 CL E G H | 7535 | 12858 | OMIM:269840 | SELECTIVE T-CELL DEFECT | | | | 46 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | ZBTB16 CL E G H | 7704 | 12930 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 1 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | ZBTB16 CL E G H | 7704 | 12930 | ORPHA:520 | Acute promyelocytic leukemia | | | | 1 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | ZBTB16 CL E G H | 7704 | 12930 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 1 | | |
HP:0011893 | HP:0040088 | Abnormal lymphocyte count | 1 | ZBTB24 CL E G H | 9841 | 21143 | ORPHA:2268 | ICF syndrome | | | | 9 | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | ZNF341 CL E G H | 84905 | 15992 | OMIM:618282 | Hyper-Ige recurrent infection syndrome 3, autosomal recessive | | | | 1 | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | ZNF341 CL E G H | 84905 | 15992 | OMIM:618282 | Hyper-Ige recurrent infection syndrome 3, autosomal recessive | | | | 1 | | |
HP:0011893 | HP:0001882 | Leukopenia | 1 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0011893 | HP:0032309 | Abnormal granulocyte count | 1 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |
HP:0011893 | HP:0012310 | Abnormal monocyte count | 1 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |
HP:0011893 | HP:0001974 | Leukocytosis | 1 | ZPR1 CL E G H | 8882 | 13051 | OMIM:619321 | GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF | | | | | | |
HP:0011893 | HP:4000034 | Infection-ssociated lymphopenia | 2 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0032310 | Granulocytosis | 2 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | ABCD4 CL E G H | 5826 | 68 | OMIM:614857 | Methylmalonic aciduria and homocystinuria, Cblj type | | | | 53 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | | | | 16 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | | | | 16 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | | | | 16 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | ADA CL E G H | 100 | 186 | ORPHA:39041 | Omenn syndrome | | | | 75 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | ADA CL E G H | 100 | 186 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 75 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | ADA CL E G H | 100 | 186 | ORPHA:277 | Severe combined immunodeficiency due to adenosine deaminase deficiency | HP:0040282 - Frequent | | | 75 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | ADA CL E G H | 100 | 186 | ORPHA:277 | Severe combined immunodeficiency due to adenosine deaminase deficiency | | | | 75 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | ADA CL E G H | 100 | 186 | ORPHA:277 | Severe combined immunodeficiency due to adenosine deaminase deficiency | | | | 75 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | ADA CL E G H | 100 | 186 | OMIM:102700 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | | | | 75 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | ADA CL E G H | 100 | 186 | OMIM:102700 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | . | | | 75 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | ADA CL E G H | 100 | 186 | OMIM:102700 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | . | | | 75 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | ADA CL E G H | 100 | 186 | OMIM:102700 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | | | | 75 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | ADA2 CL E G H | 51816 | 1839 | OMIM:182410 | Sneddon syndrome | | | | 22 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | ADAMTS3 CL E G H | 9508 | 219 | ORPHA:2136 | Hennekam syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | AGA CL E G H | 175 | 318 | OMIM:208400 | ASPARTYLGLUCOSAMINURIA | | | | 76 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | AK2 CL E G H | 204 | 362 | OMIM:267500 | Reticular dysgenesia | | | | 19 | | |
HP:0011893 | HP:0001913 | Granulocytopenia | 2 | AK2 CL E G H | 204 | 362 | OMIM:267500 | Reticular dysgenesia | | | | 19 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | | | | 68 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | | | | 68 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | AMN CL E G H | 81693 | 14604 | ORPHA:35858 | Imerslund-Gräsbeck syndrome | | | | 25 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | ANAPC1 CL E G H | 64682 | 19988 | ORPHA:221008 | Rothmund-Thomson syndrome type 1 | | | | 2 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | AP3D1 CL E G H | 8943 | 568 | OMIM:617050 | HERMANSKY-PUDLAK SYNDROME 10; HPS10 | | | | 1 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | ARHGEF1 CL E G H | 9138 | 681 | OMIM:618459 | Immunodeficiency 62 | | | | | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | ARHGEF1 CL E G H | 9138 | 681 | OMIM:618459 | Immunodeficiency 62 | | | | | | |
HP:0011893 | HP:0100827 | Lymphocytosis | 2 | ARPC1B CL E G H | 10095 | 704 | OMIM:617718 | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | . | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 145 | | |
HP:0011893 | HP:0031806 | Abnormal basophil count | 2 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | | | | 145 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | | | | 145 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | | | | 145 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 145 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | . | | | 3267 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | | | | 3267 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | ATM CL E G H | 472 | 795 | ORPHA:100 | Ataxia-telangiectasia | HP:0040281 - Very frequent | | | 3267 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | ATP11A CL E G H | 23250 | 13552 | OMIM:619851 | LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24 | | | | | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | ATP11A CL E G H | 23250 | 13552 | OMIM:619851 | LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24 | | | | | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:301045 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R | | | | 36 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | ATRX CL E G H | 546 | 886 | ORPHA:231401 | Alpha-thalassemia-myelodysplastic syndrome | | | | 169 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | B2M CL E G H | 567 | 914 | OMIM:241600 | Immunodeficiency 43 | | | | 8 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | B2M CL E G H | 567 | 914 | OMIM:241600 | Immunodeficiency 43 | | | | 8 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | BACH2 CL E G H | 60468 | 14078 | OMIM:618394 | IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60 | | | | | | |
HP:0011893 | HP:0031806 | Abnormal basophil count | 2 | BACH2 CL E G H | 60468 | 14078 | OMIM:618394 | IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60 | | | | | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | BCL10 CL E G H | 8915 | 989 | OMIM:616098 | IMMUNODEFICIENCY 37; IMD37 | | | | 18 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | BCL11B CL E G H | 64919 | 13222 | OMIM:617237 | Immunodeficiency 49 | . | | | 3 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | BCL11B CL E G H | 64919 | 13222 | OMIM:617237 | Immunodeficiency 49 | | | | 3 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | BCL11B CL E G H | 64919 | 13222 | OMIM:617237 | Immunodeficiency 49 | . | | | 3 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | BCL11B CL E G H | 64919 | 13222 | OMIM:618092 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES | | | | 3 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | BCL11B CL E G H | 64919 | 13222 | OMIM:618092 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES | HP:0040284 - Very rare | | | 3 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | BCOR CL E G H | 54880 | 20893 | ORPHA:520 | Acute promyelocytic leukemia | | | | 101 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | | | | 314 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | BLNK CL E G H | 29760 | 14211 | OMIM:613502 | Agammaglobulinemia 4, autosomal recessive | | | | 4 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | BLNK CL E G H | 29760 | 14211 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 4 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | BTK CL E G H | 695 | 1133 | OMIM:300755 | Agammaglobulinemia, X-linked | | | | 109 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | BTK CL E G H | 695 | 1133 | OMIM:300755 | Agammaglobulinemia, X-linked | | | | 109 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | BTK CL E G H | 695 | 1133 | OMIM:300755 | Agammaglobulinemia, X-linked | | | | 109 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | BTK CL E G H | 695 | 1133 | OMIM:307200 | Isolated growth hormone deficiency, type III, with agammaglobulinemia | | | | 109 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | BTK CL E G H | 695 | 1133 | OMIM:307200 | Isolated growth hormone deficiency, type III, with agammaglobulinemia | | | | 109 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | BTK CL E G H | 695 | 1133 | ORPHA:47 | X-linked agammaglobulinemia | | | | 109 | | |
HP:0011893 | HP:0100827 | Lymphocytosis | 2 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | | | | 1 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | HP:0040284 - Very rare | | | 1 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | | | | 1 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | | | | 1 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | CAMK2B CL E G H | 816 | 1461 | OMIM:617799 | Mental retardation, autosomal dominant 54 | | | | | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | CAPN3 CL E G H | 825 | 1480 | OMIM:253600 | Muscular dystrophy, limb-girdle, type 2A | . | | | 323 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | CAPN3 CL E G H | 825 | 1480 | OMIM:253600 | Muscular dystrophy, limb-girdle, type 2A | | | | 323 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | CARD10 CL E G H | 29775 | 16422 | OMIM:619632 | IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89 | | | | 5 | | |
HP:0011893 | HP:0100827 | Lymphocytosis | 2 | CARD11 CL E G H | 84433 | 16393 | OMIM:616452 | B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA | | | | 45 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | CARD11 CL E G H | 84433 | 16393 | OMIM:616452 | B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA | | | | 45 | | |
HP:0011893 | HP:0012312 | Monocytopenia | 2 | CARD11 CL E G H | 84433 | 16393 | OMIM:615206 | Card11 immunodeficiency | | | | 45 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | CARD11 CL E G H | 84433 | 16393 | OMIM:615206 | Card11 immunodeficiency | | | | 45 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | CARD11 CL E G H | 84433 | 16393 | OMIM:617638 | Immunodeficiency 11B with atopic dermatitis | | | | 45 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | CARD11 CL E G H | 84433 | 16393 | OMIM:617638 | Immunodeficiency 11B with atopic dermatitis | . | | | 45 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | CARD9 CL E G H | 64170 | 16391 | OMIM:212050 | Candidiasis, familial chronic mucocutaneous, autosomal recessive | | | | 45 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | CARD9 CL E G H | 64170 | 16391 | OMIM:212050 | Candidiasis, familial chronic mucocutaneous, autosomal recessive | | | | 45 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 87 | | |
HP:0011893 | HP:0100827 | Lymphocytosis | 2 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 87 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 87 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 87 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | | | | 87 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | | | | 87 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | | | | 87 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | . | | | 87 | | |
HP:0011893 | HP:0100827 | Lymphocytosis | 2 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | | | | 87 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | | | | 87 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | CASP8 CL E G H | 841 | 1509 | OMIM:607271 | CASPASE 8 DEFICIENCY | | | | 37 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | CBL CL E G H | 867 | 1541 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 317 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | CCBE1 CL E G H | 147372 | 29426 | ORPHA:2136 | Hennekam syndrome | HP:0040281 - Very frequent | | | 147 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | CD19 CL E G H | 930 | 1633 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 38 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | CD19 CL E G H | 930 | 1633 | OMIM:613493 | IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3 | | | | 38 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | CD247 CL E G H | 919 | 1677 | OMIM:610163 | IMMUNODEFICIENCY 25; IMD25 | | | | 8 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | CD247 CL E G H | 919 | 1677 | OMIM:610163 | IMMUNODEFICIENCY 25; IMD25 | | | | 8 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | CD247 CL E G H | 919 | 1677 | OMIM:610163 | IMMUNODEFICIENCY 25; IMD25 | | | | 8 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | CD247 CL E G H | 919 | 1677 | OMIM:610163 | IMMUNODEFICIENCY 25; IMD25 | | | | 8 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040282 - Frequent | | | 8 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040283 - Occasional | | | 8 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 8 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 8 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | CD3D CL E G H | 915 | 1673 | OMIM:615617 | Immunodeficiency 19 | . | | | 18 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 18 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 18 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040282 - Frequent | | | 18 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040283 - Occasional | | | 18 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | CD3E CL E G H | 916 | 1674 | OMIM:615615 | Immunodeficiency 18 | | | | 24 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | CD3E CL E G H | 916 | 1674 | OMIM:615615 | Immunodeficiency 18 | HP:0040284 - Very rare | | | 24 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 24 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040282 - Frequent | | | 24 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040283 - Occasional | | | 24 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 24 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | | | | 19 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | | | | 19 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | CD4 CL E G H | 920 | 1678 | OMIM:619238 | IMMUNODEFICIENCY 79; IMD79 | | | | 1 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | CD40 CL E G H | 958 | 11919 | OMIM:606843 | Immunodeficiency with hyper-igm, type 3 | | | | 27 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | CD40LG CL E G H | 959 | 11935 | OMIM:308230 | Immunodeficiency, X-linked, with hyper-IgM | | | | 33 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | CD79A CL E G H | 973 | 1698 | OMIM:613501 | Agammaglobulinemia 3, autosomal recessive | | | | 9 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | CD79A CL E G H | 973 | 1698 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 9 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | CD79B CL E G H | 974 | 1699 | OMIM:612692 | Agammaglobulinemia 6, autosomal recessive | | | | 6 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | CD79B CL E G H | 974 | 1699 | OMIM:612692 | Agammaglobulinemia 6, autosomal recessive | | | | 6 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | CD79B CL E G H | 974 | 1699 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 6 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | CD81 CL E G H | 975 | 1701 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | CD8A CL E G H | 925 | 1706 | OMIM:608957 | Cd8 deficiency, familial | | | | 4 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | CD8A CL E G H | 925 | 1706 | OMIM:608957 | Cd8 deficiency, familial | | | | 4 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | CDC40 CL E G H | 51362 | 17350 | OMIM:619302 | PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15 | | | | | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | CDCA7 CL E G H | 83879 | 14628 | ORPHA:2268 | ICF syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | CDSN CL E G H | 1041 | 1802 | OMIM:270300 | Peeling skin syndrome 1 | | | | 7 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | CDSN CL E G H | 1041 | 1802 | OMIM:270300 | Peeling skin syndrome 1 | | | | 7 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | . | | | 515 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | CHD7 CL E G H | 55636 | 20626 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 515 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | CHD7 CL E G H | 55636 | 20626 | ORPHA:39041 | Omenn syndrome | | | | 515 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | CIITA CL E G H | 4261 | 7067 | OMIM:209920 | Bare lymphocyte syndrome, type II | | | | 118 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | CIITA CL E G H | 4261 | 7067 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 118 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | CIITA CL E G H | 4261 | 7067 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 118 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | CIITA CL E G H | 4261 | 7067 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 118 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | CLPB CL E G H | 81570 | 30664 | ORPHA:445038 | 3-methylglutaconic aciduria type 7 | | | | 38 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | CLPB CL E G H | 81570 | 30664 | OMIM:616271 | 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | | | | 38 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | CLPB CL E G H | 81570 | 30664 | OMIM:619835 | 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A | | | | 38 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | CLPB CL E G H | 81570 | 30664 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040283 - Occasional | | | 38 | | |
HP:0011893 | HP:0012311 | Monocytosis | 2 | CLPB CL E G H | 81570 | 30664 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 38 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | CLPB CL E G H | 81570 | 30664 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 38 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | CLPB CL E G H | 81570 | 30664 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 38 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | CLPB CL E G H | 81570 | 30664 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 38 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | COG4 CL E G H | 25839 | 18620 | OMIM:618150 | Saul-Wilson syndrome | | | | 67 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | CORO1A CL E G H | 11151 | 2252 | OMIM:615401 | Immunodeficiency 8 | . | | | 7 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | CR2 CL E G H | 1380 | 2336 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 10 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | CSF3R CL E G H | 1441 | 2439 | OMIM:617014 | Neutropenia, severe congenital, 7, autosomal recessive | | | | 34 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | CSF3R CL E G H | 1441 | 2439 | OMIM:162830 | Neutrophilia, hereditary | | | | 34 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | CTLA4 CL E G H | 1493 | 2505 | OMIM:616100 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5 | | | | 10 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | CTNNBL1 CL E G H | 56259 | 15879 | OMIM:619846 | | | | | | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | CTNNBL1 CL E G H | 56259 | 15879 | OMIM:619846 | | | | | | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | CTNNBL1 CL E G H | 56259 | 15879 | OMIM:619846 | | | | | | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | CTPS1 CL E G H | 1503 | 2519 | OMIM:615897 | IMMUNODEFICIENCY 24; IMD24 | | | | 2 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | CTPS1 CL E G H | 1503 | 2519 | OMIM:615897 | IMMUNODEFICIENCY 24; IMD24 | | | | 2 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | CTPS1 CL E G H | 1503 | 2519 | OMIM:615897 | IMMUNODEFICIENCY 24; IMD24 | | | | 2 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | CUBN CL E G H | 8029 | 2548 | ORPHA:35858 | Imerslund-Gräsbeck syndrome | | | | 273 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | CXCR2 CL E G H | 3579 | 6027 | OMIM:619407 | WHIM SYNDROME 2; WHIMS2 | | | | 1 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | CXCR4 CL E G H | 7852 | 2561 | OMIM:193670 | Whim syndrome | | | | 9 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | CXCR4 CL E G H | 7852 | 2561 | ORPHA:51636 | WHIM syndrome | | | | 9 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | CXCR4 CL E G H | 7852 | 2561 | ORPHA:51636 | WHIM syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | CYBC1 CL E G H | 79415 | 28672 | OMIM:618935 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5 | | | | | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:39041 | Omenn syndrome | | | | 94 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:603554 | Omenn syndrome | | | | 94 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:603554 | Omenn syndrome | . | | | 94 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 94 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:603554 | Omenn syndrome | | | | 94 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:603554 | Omenn syndrome | | | | 94 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:275 | Severe combined immunodeficiency due to DCLRE1C deficiency | | | | 94 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:602450 | Severe combined immunodeficiency with sensitivity to ionizing radiation | | | | 94 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:602450 | Severe combined immunodeficiency with sensitivity to ionizing radiation | | | | 94 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:602450 | Severe combined immunodeficiency with sensitivity to ionizing radiation | | | | 94 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:602450 | Severe combined immunodeficiency with sensitivity to ionizing radiation | | | | 94 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:602450 | Severe combined immunodeficiency with sensitivity to ionizing radiation | | | | 94 | | |
HP:0011893 | HP:0012311 | Monocytosis | 2 | DDX41 CL E G H | 51428 | 18674 | OMIM:616871 | Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to | | | | 23 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 5 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | 5 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | DNMT3B CL E G H | 1789 | 2979 | ORPHA:2268 | ICF syndrome | HP:0040282 - Frequent | | | 79 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | DNMT3B CL E G H | 1789 | 2979 | OMIM:242860 | Immunodeficiency-Centromeric instability-facial anomalies syndrome | | | | 79 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | DNMT3B CL E G H | 1789 | 2979 | OMIM:242860 | Immunodeficiency-Centromeric instability-facial anomalies syndrome | | | | 79 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | | | | 6 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | . | | | 6 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | DOCK8 CL E G H | 81704 | 19191 | ORPHA:217390 | Combined immunodeficiency due to DOCK8 deficiency | | | | 217 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | DOCK8 CL E G H | 81704 | 19191 | ORPHA:217390 | Combined immunodeficiency due to DOCK8 deficiency | | | | 217 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | DOCK8 CL E G H | 81704 | 19191 | ORPHA:217390 | Combined immunodeficiency due to DOCK8 deficiency | | | | 217 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | | | | 217 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | . | | | 217 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | | | | 217 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | | | | 217 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 1 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | EFL1 CL E G H | 79631 | 25789 | OMIM:617941 | Shwachman-Diamond syndrome 2 | | | | 1 | | |
HP:0011893 | HP:0100827 | Lymphocytosis | 2 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | | | | 65 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | ELANE CL E G H | 1991 | 3309 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040283 - Occasional | | | 79 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | ELANE CL E G H | 1991 | 3309 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 79 | | |
HP:0011893 | HP:0012311 | Monocytosis | 2 | ELANE CL E G H | 1991 | 3309 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 79 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | ELANE CL E G H | 1991 | 3309 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 79 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | ELANE CL E G H | 1991 | 3309 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 79 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | ELANE CL E G H | 1991 | 3309 | ORPHA:2686 | Cyclic neutropenia | | | | 79 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | ELANE CL E G H | 1991 | 3309 | ORPHA:2686 | Cyclic neutropenia | HP:0040283 - Occasional | | | 79 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | ELANE CL E G H | 1991 | 3309 | OMIM:162800 | Cyclic neutropenia | | | | 79 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | ELANE CL E G H | 1991 | 3309 | ORPHA:2686 | Cyclic neutropenia | | | | 79 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | ELANE CL E G H | 1991 | 3309 | OMIM:202700 | Neutropenia, severe congenital, 1, autosomal dominant | . | | | 79 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | ELANE CL E G H | 1991 | 3309 | OMIM:202700 | Neutropenia, severe congenital, 1, autosomal dominant | | | | 79 | | |
HP:0011893 | HP:0001913 | Granulocytopenia | 2 | ELANE CL E G H | 1991 | 3309 | OMIM:202700 | Neutropenia, severe congenital, 1, autosomal dominant | | | | 79 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | ELANE CL E G H | 1991 | 3309 | OMIM:202700 | Neutropenia, severe congenital, 1, autosomal dominant | | | | 79 | | |
HP:0011893 | HP:0012311 | Monocytosis | 2 | ELANE CL E G H | 1991 | 3309 | OMIM:202700 | Neutropenia, severe congenital, 1, autosomal dominant | . | | | 79 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | ELF4 CL E G H | 2000 | 3319 | OMIM:301074 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2 | | | | 1 | | |
HP:0011893 | HP:0100827 | Lymphocytosis | 2 | ELF4 CL E G H | 2000 | 3319 | OMIM:301074 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2 | | | | 1 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | | | | 106 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | | | | 54 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | ETV6 CL E G H | 2120 | 3495 | OMIM:616216 | Thrombocytopenia 5 | | | | 13 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | EXTL3 CL E G H | 2137 | 3518 | OMIM:617425 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | . | | | 3 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | EXTL3 CL E G H | 2137 | 3518 | OMIM:617425 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | . | | | 3 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | EXTL3 CL E G H | 2137 | 3518 | OMIM:617425 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | | | | 3 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | | | | 3 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | | | | 3 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | | | | 3 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | FANCA CL E G H | 2175 | 3582 | OMIM:227650 | Fanconi anemia | | | | 340 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | FANCC CL E G H | 2176 | 3584 | OMIM:227645 | Fanconi anemia, complementation group C | | | | 410 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | FANCE CL E G H | 2178 | 3586 | OMIM:600901 | Fanconi anemia, complementation group E | | | | 73 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | FANCG CL E G H | 2189 | 3588 | OMIM:614082 | FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG | | | | 73 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | FANCI CL E G H | 55215 | 25568 | OMIM:609053 | Fanconi anemia, complementation group I | | | | 157 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | FAS CL E G H | 355 | 11920 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | FAS CL E G H | 355 | 11920 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 59 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 59 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | FAS CL E G H | 355 | 11920 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0011893 | HP:0100827 | Lymphocytosis | 2 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 59 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | FAS CL E G H | 355 | 11920 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | . | | | 59 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | FASLG CL E G H | 356 | 11936 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | . | | | 37 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | FASLG CL E G H | 356 | 11936 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | FASLG CL E G H | 356 | 11936 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | FASLG CL E G H | 356 | 11936 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0011893 | HP:0100827 | Lymphocytosis | 2 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | FAT4 CL E G H | 79633 | 23109 | ORPHA:2136 | Hennekam syndrome | HP:0040281 - Very frequent | | | 114 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | FBXL4 CL E G H | 26235 | 13601 | OMIM:615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | | | | 384 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | FBXW7 CL E G H | 55294 | 16712 | OMIM:620012 | | | | | 22 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | FCGR3B CL E G H | 2215 | 3620 | ORPHA:464370 | Neonatal alloimmune neutropenia | | | | 5 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | FCHO1 CL E G H | 23149 | 29002 | OMIM:619164 | IMMUNODEFICIENCY 76; IMD76 | | | | | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | FCHO1 CL E G H | 23149 | 29002 | OMIM:619164 | IMMUNODEFICIENCY 76; IMD76 | | | | | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | FCHO1 CL E G H | 23149 | 29002 | OMIM:619164 | IMMUNODEFICIENCY 76; IMD76 | | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | FDX2 CL E G H | 112812 | 30546 | OMIM:251900 | Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | FIBP CL E G H | 9158 | 3705 | ORPHA:500095 | Tall stature-intellectual disability-renal anomalies syndrome | | | | 2 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | FIP1L1 CL E G H | 81608 | 19124 | ORPHA:520 | Acute promyelocytic leukemia | | | | 4 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | FMO3 CL E G H | 2328 | 3771 | OMIM:602079 | Trimethylaminuria | | | | 55 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | FNIP1 CL E G H | 96459 | 29418 | OMIM:619705 | IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93 | | | | 1 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | FNIP1 CL E G H | 96459 | 29418 | OMIM:619705 | IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93 | | | | 1 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | FNIP1 CL E G H | 96459 | 29418 | OMIM:619705 | IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93 | | | | 1 | | |
HP:0011893 | HP:0100827 | Lymphocytosis | 2 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | FOXN1 CL E G H | 8456 | 12765 | ORPHA:169095 | Severe combined immunodeficiency due to FOXN1 deficiency | | | | 54 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | FOXN1 CL E G H | 8456 | 12765 | ORPHA:169095 | Severe combined immunodeficiency due to FOXN1 deficiency | | | | 54 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | FOXN1 CL E G H | 8456 | 12765 | OMIM:601705 | T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY | | | | 54 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | FOXN1 CL E G H | 8456 | 12765 | OMIM:601705 | T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY | | | | 54 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | FOXN1 CL E G H | 8456 | 12765 | OMIM:618806 | T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND | | | | 54 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | FOXN1 CL E G H | 8456 | 12765 | OMIM:618806 | T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND | | | | 54 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | | | | 32 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | | | | 32 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | FOXP3 CL E G H | 50943 | 6106 | OMIM:304790 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | | | | 32 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | FOXP3 CL E G H | 50943 | 6106 | OMIM:304790 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | | | | 32 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | FOXP3 CL E G H | 50943 | 6106 | OMIM:304790 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | | | | 32 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | FUT8 CL E G H | 2530 | 4019 | OMIM:618005 | Congenital disorder of glycosylation with defective fucosylation 1 | | | | 3 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | . | | | 37 | | |
HP:0011893 | HP:0012311 | Monocytosis | 2 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | . | | | 37 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | | | | 37 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | GATA1 CL E G H | 2623 | 4170 | OMIM:300835 | Anemia, X-linked, with or without neutropenia and/or platelet abnormalities | | | | 29 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | | | | 29 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | GATA2 CL E G H | 2624 | 4171 | ORPHA:3226 | Deafness-lymphedema-leukemia syndrome | HP:0040281 - Very frequent | | | 137 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | GATA2 CL E G H | 2624 | 4171 | OMIM:614172 | Immunodeficiency 21 | | | | 137 | | |
HP:0011893 | HP:0012312 | Monocytopenia | 2 | GATA2 CL E G H | 2624 | 4171 | OMIM:614172 | Immunodeficiency 21 | . | | | 137 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | GATA2 CL E G H | 2624 | 4171 | OMIM:614172 | Immunodeficiency 21 | . | | | 137 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | GATA2 CL E G H | 2624 | 4171 | OMIM:614038 | Lymphedema, primary, with myelodysplasia | | | | 137 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | GFI1 CL E G H | 2672 | 4237 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 56 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | GFI1 CL E G H | 2672 | 4237 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 56 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | GFI1 CL E G H | 2672 | 4237 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040283 - Occasional | | | 56 | | |
HP:0011893 | HP:0012311 | Monocytosis | 2 | GFI1 CL E G H | 2672 | 4237 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 56 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | GFI1 CL E G H | 2672 | 4237 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 56 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | GFI1 CL E G H | 2672 | 4237 | OMIM:607847 | Neutropenia, nonimmune chronic idiopathic, of adults | | | | 56 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | GFI1 CL E G H | 2672 | 4237 | OMIM:613107 | Neutropenia, severe congenital, 2, autosomal dominant | | | | 56 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | GFI1 CL E G H | 2672 | 4237 | OMIM:613107 | Neutropenia, severe congenital, 2, autosomal dominant | | | | 56 | | |
HP:0011893 | HP:0012311 | Monocytosis | 2 | GFI1 CL E G H | 2672 | 4237 | OMIM:613107 | Neutropenia, severe congenital, 2, autosomal dominant | . | | | 56 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | GFI1 CL E G H | 2672 | 4237 | OMIM:613107 | Neutropenia, severe congenital, 2, autosomal dominant | | | | 56 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | GINS1 CL E G H | 9837 | 28980 | OMIM:617827 | Immunodeficiency 55 | | | | | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | GINS1 CL E G H | 9837 | 28980 | OMIM:617827 | Immunodeficiency 55 | | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | GSS CL E G H | 2937 | 4624 | OMIM:266130 | Glutathione synthetase deficiency | | | | 39 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | | | | 2 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | GTF2H5 CL E G H | 404672 | 21157 | OMIM:616395 | Trichothiodystrophy 3, photosensitive | | | | 3 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | GTF2H5 CL E G H | 404672 | 21157 | OMIM:616395 | Trichothiodystrophy 3, photosensitive | | | | 3 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | HAX1 CL E G H | 10456 | 16915 | OMIM:610738 | NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3 | | | | 32 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | HELLS CL E G H | 3070 | 4861 | ORPHA:2268 | ICF syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:133 | Chronic beryllium disease | | | | 1 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | | | | 2 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | | | | 2 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | HP:0040284 - Very rare | | | 2 | | |
HP:0011893 | HP:0100827 | Lymphocytosis | 2 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | | | | 2 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | HSCB CL E G H | 150274 | 28913 | OMIM:619523 | ANEMIA, SIDEROBLASTIC, 5; SIDBA5 | | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | HTRA2 CL E G H | 27429 | 14348 | OMIM:617248 | 3-methylglutaconic aciduria, type VIII | | | | 39 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | HYOU1 CL E G H | 10525 | 16931 | OMIM:233600 | Immunodeficiency 59 and hypoglycemia | | | | | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | ICOS CL E G H | 29851 | 5351 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 32 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | | | | 32 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | | | | 32 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | | | | 32 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | IFIH1 CL E G H | 64135 | 18873 | OMIM:619773 | IMMUNODEFICIENCY 95; IMD95 | | | | 28 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | IFNG CL E G H | 3458 | 5438 | ORPHA:88 | Idiopathic aplastic anemia | | | | 23 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | IGHM CL E G H | 3507 | 5541 | OMIM:601495 | Agammaglobulinemia 1, autosomal recessive | | | | 7 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | IGHM CL E G H | 3507 | 5541 | OMIM:601495 | Agammaglobulinemia 1, autosomal recessive | | | | 7 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | IGHM CL E G H | 3507 | 5541 | OMIM:601495 | Agammaglobulinemia 1, autosomal recessive | | | | 7 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | IGHM CL E G H | 3507 | 5541 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 7 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | IGLL1 CL E G H | 3543 | 5870 | OMIM:613500 | Agammaglobulinemia 2, autosomal recessive | | | | 3 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | IGLL1 CL E G H | 3543 | 5870 | OMIM:613500 | Agammaglobulinemia 2, autosomal recessive | | | | 3 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | IGLL1 CL E G H | 3543 | 5870 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 3 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | IKBKG CL E G H | 8517 | 5961 | OMIM:301081 | | | | | 52 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | IKBKG CL E G H | 8517 | 5961 | OMIM:301081 | | | | | 52 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | IKBKG CL E G H | 8517 | 5961 | OMIM:301081 | | | | | 52 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | HP:0040282 - Frequent | | | 52 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | | | | 52 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | . | | | 52 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | | | | 52 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | IKZF1 CL E G H | 10320 | 13176 | OMIM:616873 | IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13 | | | | 8 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | IKZF1 CL E G H | 10320 | 13176 | OMIM:616873 | IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13 | | | | 8 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | IKZF3 CL E G H | 22806 | 13178 | OMIM:619437 | IMMUNODEFICIENCY 84; IMD84 | | | | | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | IKZF3 CL E G H | 22806 | 13178 | OMIM:619437 | IMMUNODEFICIENCY 84; IMD84 | | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | IL1RN CL E G H | 3557 | 6000 | OMIM:612852 | Interleukin 1 receptor antagonist deficiency | | | | 40 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | IL21 CL E G H | 59067 | 6005 | OMIM:615767 | IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11 | | | | 3 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | IL2RB CL E G H | 3560 | 6009 | OMIM:618495 | Immunodeficiency 63 with lymphoproliferation and autoimmunity | | | | | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | IL2RG CL E G H | 3561 | 6010 | OMIM:312863 | Combined immunodeficiency, X-linked | | | | 48 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | IL2RG CL E G H | 3561 | 6010 | OMIM:312863 | Combined immunodeficiency, X-linked | | | | 48 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | IL2RG CL E G H | 3561 | 6010 | ORPHA:39041 | Omenn syndrome | | | | 48 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | IL2RG CL E G H | 3561 | 6010 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 48 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | IL2RG CL E G H | 3561 | 6010 | OMIM:300400 | Severe combined immunodeficiency, X-linked | | | | 48 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | IL2RG CL E G H | 3561 | 6010 | OMIM:300400 | Severe combined immunodeficiency, X-linked | | | | 48 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | | | | 48 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | HP:0040281 - Very frequent | | | 48 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | IL36RN CL E G H | 26525 | 15561 | OMIM:614204 | PSORIASIS 14, PUSTULAR; PSORS14 | | | | 51 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | IL6R CL E G H | 3570 | 6019 | OMIM:618944 | HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5 | | | | 1 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | IL6ST CL E G H | 3572 | 6021 | OMIM:619752 | HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A | | | | | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | IL6ST CL E G H | 3572 | 6021 | OMIM:619752 | HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A | | | | | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | IL6ST CL E G H | 3572 | 6021 | OMIM:618523 | HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B | | | | | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | IL6ST CL E G H | 3572 | 6021 | OMIM:618523 | HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B | | | | | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | IL7 CL E G H | 3574 | 6023 | OMIM:618309 | EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5 | | | | | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | IL7 CL E G H | 3574 | 6023 | OMIM:618309 | EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5 | | | | | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | IL7R CL E G H | 3575 | 6024 | ORPHA:39041 | Omenn syndrome | | | | 94 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | IL7R CL E G H | 3575 | 6024 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 94 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | IL7R CL E G H | 3575 | 6024 | OMIM:608971 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive | | | | 94 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | IL7R CL E G H | 3575 | 6024 | OMIM:608971 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive | | | | 94 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | | | | 94 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | HP:0040282 - Frequent | | | 94 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | | | | 94 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | HP:0040283 - Occasional | | | 94 | | |
HP:0011893 | HP:0100827 | Lymphocytosis | 2 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | HP:0040283 - Occasional | | | 94 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | | | | 94 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | IRAK1 CL E G H | 3654 | 6112 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040282 - Frequent | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | IRAK4 CL E G H | 51135 | 17967 | OMIM:607676 | Immunodeficiency 67 | | | | 58 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | IRAK4 CL E G H | 51135 | 17967 | ORPHA:70592 | Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency | | | | 58 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:520 | Acute promyelocytic leukemia | | | | 4 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 4 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | IRF2BP2 CL E G H | 359948 | 21729 | OMIM:617765 | IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14 | | | | 4 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | IRF8 CL E G H | 3394 | 5358 | OMIM:226990 | Immunodeficiency 32B | | | | 5 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | IRF8 CL E G H | 3394 | 5358 | OMIM:226990 | Immunodeficiency 32B | | | | 5 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | IRF8 CL E G H | 3394 | 5358 | OMIM:226990 | Immunodeficiency 32B | | | | 5 | | |
HP:0011893 | HP:0012312 | Monocytopenia | 2 | IRF8 CL E G H | 3394 | 5358 | OMIM:226990 | Immunodeficiency 32B | | | | 5 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | ITCH CL E G H | 83737 | 13890 | ORPHA:228426 | Syndromic multisystem autoimmune disease due to Itch deficiency | | | | 3 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | ITK CL E G H | 3702 | 6171 | OMIM:613011 | LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1 | | | | 51 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | ITK CL E G H | 3702 | 6171 | OMIM:613011 | LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1 | | | | 51 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | JAGN1 CL E G H | 84522 | 26926 | OMIM:616022 | Neutropenia, severe congenital, 6, autosomal recessive | | | | 8 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | JAK1 CL E G H | 3716 | 6190 | OMIM:618999 | AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE | | | | 12 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | JAK1 CL E G H | 3716 | 6190 | OMIM:618999 | AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE | | | | 12 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | JAK3 CL E G H | 3718 | 6193 | OMIM:600802 | Scid, autosomal recessive, T-Negative/b-Positive type | | | | 140 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | JAK3 CL E G H | 3718 | 6193 | OMIM:600802 | Scid, autosomal recessive, T-Negative/b-Positive type | | | | 140 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | | | | 140 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | HP:0040282 - Frequent | | | 140 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | | | | 140 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | KIT CL E G H | 3815 | 6342 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 327 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | KIT CL E G H | 3815 | 6342 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | | | | 327 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | KIT CL E G H | 3815 | 6342 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | | | | 327 | | |
HP:0011893 | HP:0031806 | Abnormal basophil count | 2 | KIT CL E G H | 3815 | 6342 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | | | | 327 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | KRAS CL E G H | 3845 | 6407 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | | | | 196 | | |
HP:0011893 | HP:0100827 | Lymphocytosis | 2 | KRAS CL E G H | 3845 | 6407 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | . | | | 196 | | |
HP:0011893 | HP:0012311 | Monocytosis | 2 | KRAS CL E G H | 3845 | 6407 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | . | | | 196 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | LAMTOR2 CL E G H | 28956 | 29796 | OMIM:610798 | Immunodeficiency due to defect in mapbp-interacting protein | | | | 1 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | LAMTOR2 CL E G H | 28956 | 29796 | ORPHA:90023 | Primary immunodeficiency syndrome due to LAMTOR2 deficiency | | | | 1 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | LAT CL E G H | 27040 | 18874 | OMIM:617514 | Immunodeficiency 52 | | | | 2 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | LAT CL E G H | 27040 | 18874 | OMIM:617514 | Immunodeficiency 52 | | | | 2 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | LBR CL E G H | 3930 | 6518 | OMIM:169400 | Pelger-Huet anomaly | | | | 70 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | LCK CL E G H | 3932 | 6524 | OMIM:615758 | Immunodeficiency 22 | | | | 1 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | LCK CL E G H | 3932 | 6524 | OMIM:615758 | Immunodeficiency 22 | | | | 1 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | | | | 47 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | | | | 47 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | | | | 46 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | | | | 46 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | LIG1 CL E G H | 3978 | 6598 | OMIM:619774 | IMMUNODEFICIENCY 96; IMD96 | | | | 9 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | LIG4 CL E G H | 3981 | 6601 | ORPHA:39041 | Omenn syndrome | | | | 88 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | LIG4 CL E G H | 3981 | 6601 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | LMBRD1 CL E G H | 55788 | 23038 | ORPHA:79284 | Methylmalonic acidemia with homocystinuria type cblF | | | | 46 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | LMBRD1 CL E G H | 55788 | 23038 | OMIM:277380 | Methylmalonic aciduria and homocystinuria, Cblf type | | | | 46 | | |
HP:0011893 | HP:0100827 | Lymphocytosis | 2 | LMNB2 CL E G H | 84823 | 6638 | ORPHA:79087 | Acquired partial lipodystrophy | HP:0040282 - Frequent | | | 11 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | LRRC8A CL E G H | 56262 | 19027 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 3 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | | | | 239 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | LYST CL E G H | 1130 | 1968 | OMIM:214500 | Chediak-Higashi syndrome | | | | 239 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | MAD2L2 CL E G H | 10459 | 6764 | OMIM:617243 | Fanconi anemia, complementation group V | | | | 1 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | MAGT1 CL E G H | 84061 | 28880 | OMIM:300853 | IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN | | | | 17 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | MAGT1 CL E G H | 84061 | 28880 | OMIM:300853 | IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN | | | | 17 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | MCM10 CL E G H | 55388 | 18043 | OMIM:619313 | IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80 | | | | | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | MCM10 CL E G H | 55388 | 18043 | OMIM:619313 | IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80 | | | | | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | MCM10 CL E G H | 55388 | 18043 | OMIM:619313 | IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80 | | | | | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | MDM4 CL E G H | 4194 | 6974 | OMIM:618849 | BONE MARROW FAILURE SYNDROME 6; BMFS6 | | | | 1 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | MDM4 CL E G H | 4194 | 6974 | OMIM:618849 | BONE MARROW FAILURE SYNDROME 6; BMFS6 | | | | 1 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | MECOM CL E G H | 2122 | 3498 | OMIM:616738 | RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2 | | | | 4 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | MEFV CL E G H | 4210 | 6998 | OMIM:249100 | Familial Mediterranean fever, AR | | | | 281 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | MEFV CL E G H | 4210 | 6998 | ORPHA:3243 | Sweet syndrome | | | | 281 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | MMAA CL E G H | 166785 | 18871 | OMIM:251100 | Methylmalonic aciduria, Cbla type | | | | 113 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | MMAB CL E G H | 326625 | 19331 | OMIM:251110 | Methylmalonic aciduria, Cblb type | | | | 127 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | | | | 101 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | MMACHC CL E G H | 25974 | 24525 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | | | | 101 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | MMUT CL E G H | 4594 | 7526 | OMIM:251000 | Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency | | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | MMUT CL E G H | 4594 | 7526 | ORPHA:79312 | Vitamin B12-unresponsive methylmalonic acidemia type mut- | | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | MMUT CL E G H | 4594 | 7526 | ORPHA:289916 | Vitamin B12-unresponsive methylmalonic acidemia type mut0 | | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | | | | 9 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | MS4A1 CL E G H | 931 | 7315 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | MSN CL E G H | 4478 | 7373 | OMIM:300988 | Immunodeficiency 50 | . | | | 2 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | MSN CL E G H | 4478 | 7373 | OMIM:300988 | Immunodeficiency 50 | | | | 2 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | MTHFD1 CL E G H | 4522 | 7432 | OMIM:617780 | Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | . | | | 5 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | MTRR CL E G H | 4552 | 7473 | ORPHA:2169 | Methylcobalamin deficiency type cblE | | | | 88 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | MVK CL E G H | 4598 | 7530 | OMIM:260920 | Hyper-Igd syndrome | | | | 150 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | MYC CL E G H | 4609 | 7553 | ORPHA:543 | Burkitt lymphoma | | | | 11 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | MYC CL E G H | 4609 | 7553 | ORPHA:543 | Burkitt lymphoma | | | | 11 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | MYD88 CL E G H | 4615 | 7562 | OMIM:612260 | MYD88 DEFICIENCY; MYD88D | | | | 9 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | MYD88 CL E G H | 4615 | 7562 | OMIM:612260 | MYD88 DEFICIENCY; MYD88D | | | | 9 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | MYSM1 CL E G H | 114803 | 29401 | ORPHA:508542 | Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome | | | | | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | MYSM1 CL E G H | 114803 | 29401 | ORPHA:508542 | Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome | HP:0040282 - Frequent | | | | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | MYSM1 CL E G H | 114803 | 29401 | ORPHA:508542 | Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome | | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | NABP1 CL E G H | 64859 | 26232 | ORPHA:520 | Acute promyelocytic leukemia | | | | | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | NBN CL E G H | 4683 | 7652 | OMIM:251260 | Nijmegen breakage syndrome | | | | 706 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | NBN CL E G H | 4683 | 7652 | OMIM:251260 | Nijmegen breakage syndrome | | | | 706 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | NBN CL E G H | 4683 | 7652 | OMIM:251260 | Nijmegen breakage syndrome | | | | 706 | | |
HP:0011893 | HP:0100827 | Lymphocytosis | 2 | NCKAP1L CL E G H | 3071 | 4862 | OMIM:618982 | IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72 | | | | | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | NCKAP1L CL E G H | 3071 | 4862 | OMIM:618982 | IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72 | | | | | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | NCKAP1L CL E G H | 3071 | 4862 | OMIM:618982 | IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72 | | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | NDUFA6 CL E G H | 4700 | 7690 | OMIM:618253 | Mitochondrial complex I deficiency, nuclear type 33 | | | | 1 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | NFKB1 CL E G H | 4790 | 7794 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 7 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 11 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | | | | 11 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | | | | 11 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | NHEJ1 CL E G H | 79840 | 25737 | ORPHA:169079 | Cernunnos-XLF deficiency | HP:0040281 - Very frequent | | | 20 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | NHEJ1 CL E G H | 79840 | 25737 | ORPHA:169079 | Cernunnos-XLF deficiency | | | | 20 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | NHEJ1 CL E G H | 79840 | 25737 | ORPHA:169079 | Cernunnos-XLF deficiency | | | | 20 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | NLRP1 CL E G H | 22861 | 14374 | OMIM:617388 | AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK | | | | 37 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | NLRP1 CL E G H | 22861 | 14374 | OMIM:617388 | AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK | | | | 37 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | NLRP3 CL E G H | 114548 | 16400 | OMIM:607115 | CINCA SYNDROME; CINCA | | | | 217 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | NLRP3 CL E G H | 114548 | 16400 | OMIM:607115 | CINCA SYNDROME; CINCA | | | | 217 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | NPM1 CL E G H | 4869 | 7910 | ORPHA:520 | Acute promyelocytic leukemia | | | | 12 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0011893 | HP:0100827 | Lymphocytosis | 2 | NRAS CL E G H | 4893 | 7989 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | . | | | 102 | | |
HP:0011893 | HP:0012311 | Monocytosis | 2 | NRAS CL E G H | 4893 | 7989 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | . | | | 102 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | NRAS CL E G H | 4893 | 7989 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | | | | 102 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | NSMCE3 CL E G H | 56160 | 7677 | OMIM:617241 | LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS | | | | 2 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | NSMCE3 CL E G H | 56160 | 7677 | OMIM:617241 | LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS | | | | 2 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | NUMA1 CL E G H | 4926 | 8059 | ORPHA:520 | Acute promyelocytic leukemia | | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | OTULIN CL E G H | 90268 | 25118 | OMIM:617099 | AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS | | | | 3 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | OTULIN CL E G H | 90268 | 25118 | OMIM:617099 | AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS | | | | 3 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | PACS2 CL E G H | 23241 | 23794 | OMIM:618067 | Epileptic encephalopathy, early infantile, 66 | | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | PCCA CL E G H | 5095 | 8653 | OMIM:606054 | Propionic acidemia | | | | 96 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | PCCB CL E G H | 5096 | 8654 | OMIM:606054 | Propionic acidemia | | | | 92 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | PDGFRA CL E G H | 5156 | 8803 | OMIM:607685 | Hypereosinophilic syndrome, idiopathic | | | | 337 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | PDGFRA CL E G H | 5156 | 8803 | OMIM:607685 | Hypereosinophilic syndrome, idiopathic | . | | | 337 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | PDGFRB CL E G H | 5159 | 8804 | OMIM:131440 | Myeloproliferative disorder, chronic, with eosinophilia | | | | 28 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | PDGFRB CL E G H | 5159 | 8804 | OMIM:131440 | Myeloproliferative disorder, chronic, with eosinophilia | . | | | 28 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | PGM3 CL E G H | 5238 | 8907 | OMIM:615816 | Immunodeficiency 23 | | | | 15 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | PGM3 CL E G H | 5238 | 8907 | OMIM:615816 | Immunodeficiency 23 | | | | 15 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | PGM3 CL E G H | 5238 | 8907 | OMIM:615816 | Immunodeficiency 23 | | | | 15 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | PGM3 CL E G H | 5238 | 8907 | OMIM:615816 | Immunodeficiency 23 | | | | 15 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | | | | 15 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | | | | 15 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | | | | 15 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040282 - Frequent | | | 15 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040283 - Occasional | | | 15 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | PI4KA CL E G H | 5297 | 8983 | OMIM:619708 | GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2 | | | | 11 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | PIK3CD CL E G H | 5293 | 8977 | OMIM:615513 | IMMUNODEFICIENCY 14; IMD14 | | | | 9 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | PIK3CD CL E G H | 5293 | 8977 | OMIM:615513 | IMMUNODEFICIENCY 14; IMD14 | | | | 9 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | PIK3CD CL E G H | 5293 | 8977 | OMIM:615513 | IMMUNODEFICIENCY 14; IMD14 | | | | 9 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | PIK3CD CL E G H | 5293 | 8977 | OMIM:619281 | IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B | | | | 9 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | PIK3CD CL E G H | 5293 | 8977 | OMIM:619281 | IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B | | | | 9 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | PIK3CD CL E G H | 5293 | 8977 | OMIM:619281 | IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B | | | | 9 | | |
HP:0011893 | HP:0012311 | Monocytosis | 2 | PIK3CD CL E G H | 5293 | 8977 | OMIM:619281 | IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B | | | | 9 | | |
HP:0011893 | HP:0012312 | Monocytopenia | 2 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:615214 | Agammaglobulinemia 7, autosomal recessive | | | | 43 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 43 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | . | | | 43 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | | | | 43 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | | | | 43 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | PLCG2 CL E G H | 5336 | 9066 | OMIM:614878 | Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated | | | | 21 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | PML CL E G H | 5371 | 9113 | ORPHA:520 | Acute promyelocytic leukemia | | | | 3 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | PNP CL E G H | 4860 | 7892 | OMIM:613179 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | | | | 52 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | PNP CL E G H | 4860 | 7892 | OMIM:613179 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | | | | 52 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | PNP CL E G H | 4860 | 7892 | ORPHA:760 | Purine nucleoside phosphorylase deficiency | | | | 52 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | PNP CL E G H | 4860 | 7892 | ORPHA:760 | Purine nucleoside phosphorylase deficiency | HP:0040283 - Occasional | | | 52 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | POMP CL E G H | 51371 | 20330 | OMIM:618048 | Proteasome-Associated autoinflammatory syndrome 2 | | | | 2 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | POMP CL E G H | 51371 | 20330 | OMIM:618048 | Proteasome-Associated autoinflammatory syndrome 2 | | | | 2 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | POMP CL E G H | 51371 | 20330 | OMIM:618048 | Proteasome-Associated autoinflammatory syndrome 2 | | | | 2 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | PPIL1 CL E G H | 51645 | 9260 | OMIM:619301 | PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14 | | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | PRDX1 CL E G H | 5052 | 9352 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | PRF1 CL E G H | 5551 | 9360 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 58 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | PRF1 CL E G H | 5551 | 9360 | ORPHA:88 | Idiopathic aplastic anemia | | | | 58 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | PRIM1 CL E G H | 5557 | 9369 | OMIM:620005 | | | | | | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | PRIM1 CL E G H | 5557 | 9369 | OMIM:620005 | | | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:520 | Acute promyelocytic leukemia | | | | 134 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 10 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 10 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 10 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 10 | | |
HP:0011893 | HP:0100827 | Lymphocytosis | 2 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0011893 | HP:0100827 | Lymphocytosis | 2 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | PRKCD CL E G H | 5580 | 9399 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 10 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | PSMB4 CL E G H | 5692 | 9541 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | . | | | | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | PSMB9 CL E G H | 5698 | 9546 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | . | | | | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | PTEN CL E G H | 5728 | 9588 | OMIM:158350 | Cowden syndrome 1 | HP:0040284 - Very rare | | | 948 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | PTEN CL E G H | 5728 | 9588 | OMIM:605309 | Macrocephaly/autism syndrome | HP:0040284 - Very rare | | | 948 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | PTPRC CL E G H | 5788 | 9666 | OMIM:619924 | | | | | 25 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | PTPRC CL E G H | 5788 | 9666 | OMIM:619924 | | | | | 25 | | |
HP:0011893 | HP:0100827 | Lymphocytosis | 2 | PTPRC CL E G H | 5788 | 9666 | OMIM:619924 | | | | | 25 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | PTPRC CL E G H | 5788 | 9666 | OMIM:619924 | | | | | 25 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RAB27A CL E G H | 5873 | 9766 | ORPHA:79477 | Griscelli syndrome type 2 | | | | 67 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0011893 | HP:0012312 | Monocytopenia | 2 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | RAC2 CL E G H | 5880 | 9802 | OMIM:618987 | IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C | | | | 9 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | RAC2 CL E G H | 5880 | 9802 | OMIM:618987 | IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C | | | | 9 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | RAC2 CL E G H | 5880 | 9802 | OMIM:618987 | IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C | | | | 9 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RAC2 CL E G H | 5880 | 9802 | OMIM:608203 | NEUTROPHIL IMMUNODEFICIENCY SYNDROME | | | | 9 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | RAC2 CL E G H | 5880 | 9802 | OMIM:608203 | NEUTROPHIL IMMUNODEFICIENCY SYNDROME | | | | 9 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | RAG1 CL E G H | 5896 | 9831 | OMIM:233650 | Combined cellular and humoral immune defects with granulomas | | | | 127 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | RAG1 CL E G H | 5896 | 9831 | OMIM:233650 | Combined cellular and humoral immune defects with granulomas | | | | 127 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | RAG1 CL E G H | 5896 | 9831 | OMIM:233650 | Combined cellular and humoral immune defects with granulomas | | | | 127 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | RAG1 CL E G H | 5896 | 9831 | ORPHA:231154 | Combined immunodeficiency due to partial RAG1 deficiency | | | | 127 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | RAG1 CL E G H | 5896 | 9831 | ORPHA:231154 | Combined immunodeficiency due to partial RAG1 deficiency | | | | 127 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | RAG1 CL E G H | 5896 | 9831 | ORPHA:231154 | Combined immunodeficiency due to partial RAG1 deficiency | | | | 127 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RAG1 CL E G H | 5896 | 9831 | ORPHA:231154 | Combined immunodeficiency due to partial RAG1 deficiency | | | | 127 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | RAG1 CL E G H | 5896 | 9831 | OMIM:603554 | Omenn syndrome | | | | 127 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | RAG1 CL E G H | 5896 | 9831 | OMIM:603554 | Omenn syndrome | | | | 127 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | RAG1 CL E G H | 5896 | 9831 | OMIM:603554 | Omenn syndrome | . | | | 127 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | RAG1 CL E G H | 5896 | 9831 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 127 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | RAG1 CL E G H | 5896 | 9831 | ORPHA:39041 | Omenn syndrome | | | | 127 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | RAG1 CL E G H | 5896 | 9831 | OMIM:603554 | Omenn syndrome | | | | 127 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040282 - Frequent | | | 127 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040283 - Occasional | | | 127 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040281 - Very frequent | | | 127 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | | | | 127 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040281 - Very frequent | | | 127 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | RAG1 CL E G H | 5896 | 9831 | OMIM:601457 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | | | 127 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | RAG1 CL E G H | 5896 | 9831 | OMIM:601457 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | | | 127 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | RAG1 CL E G H | 5896 | 9831 | OMIM:601457 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | | | 127 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | RAG2 CL E G H | 5897 | 9832 | OMIM:233650 | Combined cellular and humoral immune defects with granulomas | | | | 50 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | RAG2 CL E G H | 5897 | 9832 | OMIM:233650 | Combined cellular and humoral immune defects with granulomas | | | | 50 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | RAG2 CL E G H | 5897 | 9832 | OMIM:233650 | Combined cellular and humoral immune defects with granulomas | | | | 50 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | RAG2 CL E G H | 5897 | 9832 | OMIM:603554 | Omenn syndrome | . | | | 50 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | RAG2 CL E G H | 5897 | 9832 | ORPHA:39041 | Omenn syndrome | | | | 50 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | RAG2 CL E G H | 5897 | 9832 | OMIM:603554 | Omenn syndrome | | | | 50 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | RAG2 CL E G H | 5897 | 9832 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 50 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | RAG2 CL E G H | 5897 | 9832 | OMIM:603554 | Omenn syndrome | | | | 50 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | RAG2 CL E G H | 5897 | 9832 | OMIM:603554 | Omenn syndrome | | | | 50 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040281 - Very frequent | | | 50 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | | | | 50 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040282 - Frequent | | | 50 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040281 - Very frequent | | | 50 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040283 - Occasional | | | 50 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | RAG2 CL E G H | 5897 | 9832 | OMIM:601457 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | | | 50 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | RAG2 CL E G H | 5897 | 9832 | OMIM:601457 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | | | 50 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | RAG2 CL E G H | 5897 | 9832 | OMIM:601457 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | | | 50 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RARA CL E G H | 5914 | 9864 | ORPHA:520 | Acute promyelocytic leukemia | | | | 2 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | | | |
HP:0011893 | HP:0100827 | Lymphocytosis | 2 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:221016 | Rothmund-Thomson syndrome type 2 | | | | 445 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | REL CL E G H | 5966 | 9954 | OMIM:619652 | IMMUNODEFICIENCY 92; IMD92 | | | | 1 | | |
HP:0011893 | HP:0100827 | Lymphocytosis | 2 | REL CL E G H | 5966 | 9954 | OMIM:619652 | IMMUNODEFICIENCY 92; IMD92 | | | | 1 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | REL CL E G H | 5966 | 9954 | OMIM:619652 | IMMUNODEFICIENCY 92; IMD92 | | | | 1 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RFX5 CL E G H | 5993 | 9986 | OMIM:209920 | Bare lymphocyte syndrome, type II | | | | 38 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RFX5 CL E G H | 5993 | 9986 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 38 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | RFX5 CL E G H | 5993 | 9986 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 38 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | RFX5 CL E G H | 5993 | 9986 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 38 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RFXANK CL E G H | 8625 | 9987 | OMIM:209920 | Bare lymphocyte syndrome, type II | | | | 26 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RFXANK CL E G H | 8625 | 9987 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 26 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | RFXANK CL E G H | 8625 | 9987 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 26 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | RFXANK CL E G H | 8625 | 9987 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 26 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RFXAP CL E G H | 5994 | 9988 | OMIM:209920 | Bare lymphocyte syndrome, type II | | | | 34 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | RFXAP CL E G H | 5994 | 9988 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 34 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | RFXAP CL E G H | 5994 | 9988 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 34 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RFXAP CL E G H | 5994 | 9988 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 34 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | RIPK1 CL E G H | 8737 | 10019 | OMIM:618108 | IMMUNODEFICIENCY 57; IMD57 | | | | | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | RIPK1 CL E G H | 8737 | 10019 | OMIM:618108 | IMMUNODEFICIENCY 57; IMD57 | | | | | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | RIPK1 CL E G H | 8737 | 10019 | OMIM:618108 | IMMUNODEFICIENCY 57; IMD57 | | | | | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | RMRP CL E G H | 6023 | 10031 | OMIM:250250 | Cartilage-Hair hypoplasia | . | | | 37 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RMRP CL E G H | 6023 | 10031 | ORPHA:175 | Cartilage-hair hypoplasia | | | | 37 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RMRP CL E G H | 6023 | 10031 | OMIM:250250 | Cartilage-Hair hypoplasia | | | | 37 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | RMRP CL E G H | 6023 | 10031 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | RMRP CL E G H | 6023 | 10031 | ORPHA:39041 | Omenn syndrome | | | | 37 | | |
HP:0011893 | HP:0100827 | Lymphocytosis | 2 | RNASEH2B CL E G H | 79621 | 25671 | OMIM:610181 | Aicardi-Goutieres syndrome 2 | . | | | 34 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | | | | 15 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:616651 | Roifman syndrome | | | | 15 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:616651 | Roifman syndrome | . | | | 15 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | RPA1 CL E G H | 6117 | 10289 | OMIM:619767 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6 | | | | | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | RPA1 CL E G H | 6117 | 10289 | OMIM:619767 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6 | | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RPL11 CL E G H | 6135 | 10301 | OMIM:612562 | Diamond-Blackfan anemia 7 | | | | 22 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RPL18 CL E G H | 6141 | 10310 | OMIM:618310 | DIAMOND-BLACKFAN ANEMIA 18; DBA18 | | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RPL26 CL E G H | 6154 | 10327 | OMIM:614900 | Diamond-Blackfan anemia 11 | | | | 3 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | | | | 11 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | | | | 40 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | | | | 26 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | | | | 5 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RPS17 CL E G H | 6218 | 10397 | OMIM:612527 | Diamond-Blackfan anemia 4 | | | | 5 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | | | | 42 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | | | | 42 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | | | | 20 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0011893 | HP:0001913 | Granulocytopenia | 2 | RPS28 CL E G H | 6234 | 10418 | OMIM:606164 | Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | . | | | 1 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | | | | 20 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RPS7 CL E G H | 6201 | 10440 | OMIM:612563 | Diamond-Blackfan anemia 8 | | | | 20 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | RRAS2 CL E G H | 22800 | 17271 | OMIM:618624 | NOONAN SYNDROME 12; NS12 | | | | 1 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | RUNX1 CL E G H | 861 | 10471 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 181 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | . | | | 8 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | SAMD9 CL E G H | 54809 | 1348 | OMIM:619041 | MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2 | | | | 8 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | SAMD9L CL E G H | 219285 | 1349 | OMIM:159550 | Ataxia-Pancytopenia syndrome | | | | 4 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | SBDS CL E G H | 51119 | 19440 | ORPHA:88 | Idiopathic aplastic anemia | | | | 26 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 26 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | SBDS CL E G H | 51119 | 19440 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | 26 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | SEC61A1 CL E G H | 29927 | 18276 | OMIM:617056 | Tubulointerstitial kidney disease, autosomal dominant, 5 | | | | 2 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | | | | 19 | | |
HP:0011893 | HP:0001913 | Granulocytopenia | 2 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | HP:0040284 - Very rare | | | 19 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | SGPL1 CL E G H | 8879 | 10817 | OMIM:617575 | Nephrotic syndrome, type 14 | . | | | 8 | | |
HP:0011893 | HP:0100827 | Lymphocytosis | 2 | SH2D1A CL E G H | 4068 | 10820 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | . | | | 37 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | SH2D1A CL E G H | 4068 | 10820 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 37 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | HP:0040283 - Occasional | | | | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | HP:0040283 - Occasional | | | | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | SLC27A4 CL E G H | 10999 | 10998 | ORPHA:88621 | Ichthyosis-prematurity syndrome | | | | 26 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | SLC27A4 CL E G H | 10999 | 10998 | ORPHA:88621 | Ichthyosis-prematurity syndrome | HP:0040281 - Very frequent | | | 26 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | SLC35A1 CL E G H | 10559 | 11021 | OMIM:603585 | Congenital disorder of glycosylation, type IIf | | | | 24 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | SLC35A1 CL E G H | 10559 | 11021 | ORPHA:238459 | SLC35A1-CDG | | | | 24 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | SLC35C1 CL E G H | 55343 | 20197 | OMIM:266265 | Congenital disorder of glycosylation, type IIc | | | | 71 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | | | | 71 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | SLC37A4 CL E G H | 2542 | 4061 | ORPHA:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | | | | 110 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232220 | Glycogen storage disease ib | | | | 110 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232240 | GLYCOGEN STORAGE DISEASE Ic | | | | 110 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | SLC39A7 CL E G H | 7922 | 4927 | OMIM:619693 | AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9 | | | | | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | SLC39A7 CL E G H | 7922 | 4927 | OMIM:619693 | AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9 | | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | SLC46A1 CL E G H | 113235 | 30521 | OMIM:229050 | Folate malabsorption, hereditary | | | | 101 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | SLC46A1 CL E G H | 113235 | 30521 | ORPHA:90045 | Hereditary folate malabsorption | HP:0040283 - Occasional | | | 101 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | SLC46A1 CL E G H | 113235 | 30521 | ORPHA:90045 | Hereditary folate malabsorption | | | | 101 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | | | | 74 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | . | | | 74 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | | | | 74 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | | | | 74 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | HP:0040282 - Frequent | | | 74 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | SMARCD2 CL E G H | 6603 | 11107 | OMIM:617475 | SPECIFIC GRANULE DEFICIENCY 2; SGD2 | | | | 3 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | SOCS1 CL E G H | 8651 | 19383 | OMIM:619375 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD | | | | 6 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | | | | 49 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | | | | 49 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | | | | 49 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | SPI1 CL E G H | 6688 | 11241 | OMIM:619707 | AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10 | | | | | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | SPI1 CL E G H | 6688 | 11241 | OMIM:619707 | AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10 | | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | SPI1 CL E G H | 6688 | 11241 | OMIM:619707 | AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10 | | | | | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | SPINK5 CL E G H | 11005 | 15464 | OMIM:256500 | Netherton syndrome | | | | 100 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | SPINK5 CL E G H | 11005 | 15464 | OMIM:256500 | Netherton syndrome | | | | 100 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | SPP1 CL E G H | 6696 | 11255 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040282 - Frequent | | | | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | SPRED2 CL E G H | 200734 | 17722 | OMIM:619745 | NOONAN SYNDROME 14; NS14 | | | | | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | SREBF1 CL E G H | 6720 | 11289 | OMIM:158310 | Mucoepithelial dysplasia, hereditary | | | | 1 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | SREBF1 CL E G H | 6720 | 11289 | OMIM:158310 | Mucoepithelial dysplasia, hereditary | . | | | 1 | | |
HP:0011893 | HP:0012311 | Monocytosis | 2 | SRP54 CL E G H | 6729 | 11301 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | SRP54 CL E G H | 6729 | 11301 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | SRP54 CL E G H | 6729 | 11301 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | SRP54 CL E G H | 6729 | 11301 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | SRP54 CL E G H | 6729 | 11301 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040283 - Occasional | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | SRP54 CL E G H | 6729 | 11301 | OMIM:618752 | NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8 | | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | SRP54 CL E G H | 6729 | 11301 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 1 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | | | | 1 | | |
HP:0011893 | HP:0031806 | Abnormal basophil count | 2 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | | | | 1 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | | | | 1 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 1 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | 89 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | 89 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040282 - Frequent | | | 89 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | STAT1 CL E G H | 6772 | 11362 | OMIM:614162 | Immunodeficiency 31C | . | | | 89 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | STAT2 CL E G H | 6773 | 11363 | OMIM:616636 | Immunodeficiency 44 | | | | 9 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | STAT3 CL E G H | 6774 | 11364 | ORPHA:520 | Acute promyelocytic leukemia | | | | 110 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | STAT3 CL E G H | 6774 | 11364 | OMIM:615952 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1 | | | | 110 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | STAT3 CL E G H | 6774 | 11364 | ORPHA:2314 | Autosomal dominant hyper-IgE syndrome | | | | 110 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | STAT3 CL E G H | 6774 | 11364 | ORPHA:2314 | Autosomal dominant hyper-IgE syndrome | HP:0040282 - Frequent | | | 110 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | STAT3 CL E G H | 6774 | 11364 | OMIM:147060 | Hyper-IgE recurrent infection syndrome | | | | 110 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | STAT3 CL E G H | 6774 | 11364 | OMIM:147060 | Hyper-IgE recurrent infection syndrome | | | | 110 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | STAT4 CL E G H | 6775 | 11365 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040282 - Frequent | | | 2 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | STAT5B CL E G H | 6777 | 11367 | ORPHA:520 | Acute promyelocytic leukemia | | | | 12 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | STING1 CL E G H | 340061 | 27962 | OMIM:615934 | STING-associated vasculopathy, infantile-onset | | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | STK4 CL E G H | 6789 | 11408 | OMIM:614868 | T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS | | | | 4 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | STK4 CL E G H | 6789 | 11408 | OMIM:614868 | T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS | . | | | 4 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | STX11 CL E G H | 8676 | 11429 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 85 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | STX11 CL E G H | 8676 | 11429 | OMIM:603552 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 | | | | 85 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | STXBP2 CL E G H | 6813 | 11445 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 70 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | TAFAZZIN CL E G H | 6901 | 11577 | OMIM:302060 | Barth syndrome | | | | | | |
HP:0011893 | HP:0001913 | Granulocytopenia | 2 | TAFAZZIN CL E G H | 6901 | 11577 | OMIM:302060 | Barth syndrome | . | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | TBK1 CL E G H | 29110 | 11584 | ORPHA:1930 | Herpes simplex virus encephalitis | | | | 20 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:520 | Acute promyelocytic leukemia | | | | 22 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | TBX21 CL E G H | 30009 | 11599 | OMIM:619630 | IMMUNODEFICIENCY 88; IMD88 | | | | 1 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | TBX21 CL E G H | 30009 | 11599 | OMIM:619630 | IMMUNODEFICIENCY 88; IMD88 | | | | 1 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | TCF3 CL E G H | 6929 | 11633 | OMIM:616941 | Agammaglobulinemia 8, autosomal dominant | | | | 2 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | TCF3 CL E G H | 6929 | 11633 | OMIM:616941 | Agammaglobulinemia 8, autosomal dominant | | | | 2 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | TCF3 CL E G H | 6929 | 11633 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 2 | | |
HP:0011893 | HP:0012311 | Monocytosis | 2 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 82 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 82 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 82 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040283 - Occasional | | | 82 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 82 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | TCN2 CL E G H | 6948 | 11653 | ORPHA:859 | Transcobalamin deficiency | | | | 57 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | TCN2 CL E G H | 6948 | 11653 | ORPHA:859 | Transcobalamin deficiency | HP:0040282 - Frequent | | | 57 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | TCN2 CL E G H | 6948 | 11653 | OMIM:275350 | Transcobalamin II deficiency | | | | 57 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | TDP2 CL E G H | 51567 | 17768 | OMIM:616949 | Spinocerebellar ataxia, autosomal recessive 23 | | | | 3 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | TERC CL E G H | 7012 | 11727 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 48 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | TERC CL E G H | 7012 | 11727 | ORPHA:88 | Idiopathic aplastic anemia | | | | 48 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | TERT CL E G H | 7015 | 11730 | OMIM:613989 | Dyskeratosis congenita, autosomal dominant 2 | | | | 238 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | TERT CL E G H | 7015 | 11730 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 238 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | TERT CL E G H | 7015 | 11730 | ORPHA:88 | Idiopathic aplastic anemia | | | | 238 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | TET2 CL E G H | 54790 | 25941 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | | | | 3 | | |
HP:0011893 | HP:0001913 | Granulocytopenia | 2 | TET2 CL E G H | 54790 | 25941 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | TET2 CL E G H | 54790 | 25941 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 3 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | TET2 CL E G H | 54790 | 25941 | OMIM:619126 | IMMUNODEFICIENCY 75; IMD75 | | | | 3 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | TET2 CL E G H | 54790 | 25941 | ORPHA:98826 | Refractory anemia | | | | 3 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | TET2 CL E G H | 54790 | 25941 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 3 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | TET2 CL E G H | 54790 | 25941 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | | | | 3 | | |
HP:0011893 | HP:0031806 | Abnormal basophil count | 2 | TET2 CL E G H | 54790 | 25941 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | | | | 3 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | TET2 CL E G H | 54790 | 25941 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | | | | 3 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | TFR2 CL E G H | 7036 | 11762 | OMIM:604250 | Hemochromatosis, type 3 | . | | | 67 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | TFR2 CL E G H | 7036 | 11762 | OMIM:604250 | Hemochromatosis, type 3 | | | | 67 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | TFRC CL E G H | 7037 | 11763 | OMIM:616740 | Immunodeficiency 46 | | | | 1 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | TICAM1 CL E G H | 148022 | 18348 | ORPHA:1930 | Herpes simplex virus encephalitis | | | | 6 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | TINF2 CL E G H | 26277 | 11824 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 60 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | TLR3 CL E G H | 7098 | 11849 | ORPHA:1930 | Herpes simplex virus encephalitis | | | | 3 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | TLR7 CL E G H | 51284 | 15631 | OMIM:301080 | | | | | | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | |
HP:0011893 | HP:0001913 | Granulocytopenia | 2 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | TNFAIP3 CL E G H | 7128 | 11896 | OMIM:616744 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL | | | | 26 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | TNFRSF13B CL E G H | 23495 | 18153 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 32 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | TNFRSF13C CL E G H | 115650 | 17755 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 12 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | TNFSF12 CL E G H | 8742 | 11927 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040282 - Frequent | | | | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | TOM1 CL E G H | 10043 | 11982 | OMIM:619510 | IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85 | | | | | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | TOM1 CL E G H | 10043 | 11982 | OMIM:619510 | IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85 | | | | | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | TOM1 CL E G H | 10043 | 11982 | OMIM:619510 | IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85 | | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | TONSL CL E G H | 4796 | 7801 | OMIM:271510 | Spondyloepimetaphyseal dysplasia, Sponastrime type | | | | | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | TPP2 CL E G H | 7174 | 12016 | ORPHA:444463 | Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome | HP:0040281 - Very frequent | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | TPP2 CL E G H | 7174 | 12016 | OMIM:619220 | IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78 | | | | | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | TRAC CL E G H | 28755 | 12029 | OMIM:615387 | T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY | | | | 1 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | TRAC CL E G H | 28755 | 12029 | OMIM:615387 | T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY | | | | 1 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | TRAF3 CL E G H | 7187 | 12033 | ORPHA:1930 | Herpes simplex virus encephalitis | | | | 2 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | TRNT1 CL E G H | 51095 | 17341 | OMIM:616084 | SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD | | | | 28 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | TRNT1 CL E G H | 51095 | 17341 | OMIM:616084 | SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD | | | | 28 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | TTC7A CL E G H | 57217 | 19750 | OMIM:243150 | Gastrointestinal defects and immunodeficiency syndrome | | | | 26 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | TTI2 CL E G H | 80185 | 26262 | ORPHA:391307 | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | | | | 7 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | UNC119 CL E G H | 9094 | 12565 | OMIM:615518 | IMMUNODEFICIENCY 13; IMD13 | | | | 30 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | UNC119 CL E G H | 9094 | 12565 | OMIM:615518 | IMMUNODEFICIENCY 13; IMD13 | | | | 30 | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | UNC119 CL E G H | 9094 | 12565 | OMIM:615518 | IMMUNODEFICIENCY 13; IMD13 | | | | 30 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | UNC13D CL E G H | 201294 | 23147 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 116 | | |
HP:0011893 | HP:0001913 | Granulocytopenia | 2 | UNC13D CL E G H | 201294 | 23147 | OMIM:608898 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3 | | | | 116 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | UNC93B1 CL E G H | 81622 | 13481 | ORPHA:1930 | Herpes simplex virus encephalitis | | | | 5 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | USB1 CL E G H | 79650 | 25792 | OMIM:604173 | Poikiloderma with neutropenia | | | | 8 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | VPS13B CL E G H | 157680 | 2183 | ORPHA:193 | Cohen syndrome | | | | 546 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | VPS13B CL E G H | 157680 | 2183 | OMIM:216550 | Cohen syndrome | | | | 546 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | VPS33A CL E G H | 65082 | 18179 | OMIM:617303 | Mucopolysaccharidosis-Plus syndrome | | | | 1 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | VPS45 CL E G H | 11311 | 14579 | OMIM:615285 | Neutropenia, severe congenital, 5, autosomal recessive | | | | 7 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | WAS CL E G H | 7454 | 12731 | OMIM:300299 | Neutropenia, severe congenital, X-linked | | | | 65 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | WAS CL E G H | 7454 | 12731 | OMIM:300299 | Neutropenia, severe congenital, X-linked | | | | 65 | | |
HP:0011893 | HP:0012312 | Monocytopenia | 2 | WAS CL E G H | 7454 | 12731 | OMIM:300299 | Neutropenia, severe congenital, X-linked | | | | 65 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | . | | | 65 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | WAS CL E G H | 7454 | 12731 | ORPHA:86788 | X-linked severe congenital neutropenia | | | | 65 | | |
HP:0011893 | HP:0012312 | Monocytopenia | 2 | WAS CL E G H | 7454 | 12731 | ORPHA:86788 | X-linked severe congenital neutropenia | HP:0040281 - Very frequent | | | 65 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |
HP:0011893 | HP:0010975 | Abnormal B cell count | 2 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | | | | 6 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | WIPF1 CL E G H | 7456 | 12736 | OMIM:614493 | WISKOTT-ALDRICH SYNDROME 2; WAS2 | | | | 6 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | WIPF1 CL E G H | 7456 | 12736 | OMIM:614493 | WISKOTT-ALDRICH SYNDROME 2; WAS2 | | | | 6 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | XIAP CL E G H | 331 | 592 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 81 | | |
HP:0011893 | HP:0100827 | Lymphocytosis | 2 | XIAP CL E G H | 331 | 592 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | . | | | 81 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | XRCC4 CL E G H | 7518 | 12831 | OMIM:616541 | Short stature, microcephaly, and endocrine dysfunction | . | | | 9 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | ZAP70 CL E G H | 7535 | 12858 | OMIM:617006 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2 | | | | 46 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | HP:0040283 - Occasional | | | 46 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | | | | 46 | | |
HP:0011893 | HP:0100827 | Lymphocytosis | 2 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | HP:0040283 - Occasional | | | 46 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | | | | 46 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | | | | 46 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | ZAP70 CL E G H | 7535 | 12858 | OMIM:269840 | SELECTIVE T-CELL DEFECT | | | | 46 | | |
HP:0011893 | HP:0011839 | Abnormal T cell count | 2 | ZAP70 CL E G H | 7535 | 12858 | OMIM:269840 | SELECTIVE T-CELL DEFECT | | | | 46 | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | ZBTB16 CL E G H | 7704 | 12930 | ORPHA:520 | Acute promyelocytic leukemia | | | | 1 | | |
HP:0011893 | HP:0001888 | Lymphopenia | 2 | ZBTB24 CL E G H | 9841 | 21143 | ORPHA:2268 | ICF syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 2 | ZNF341 CL E G H | 84905 | 15992 | OMIM:618282 | Hyper-Ige recurrent infection syndrome 3, autosomal recessive | HP:0040284 - Very rare | | | 1 | | |
HP:0011893 | HP:0020064 | Abnormal eosinophil count | 2 | ZNF341 CL E G H | 84905 | 15992 | OMIM:618282 | Hyper-Ige recurrent infection syndrome 3, autosomal recessive | | | | 1 | | |
HP:0011893 | HP:0012311 | Monocytosis | 2 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |
HP:0011893 | HP:0011991 | Abnormal neutrophil count | 2 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |
HP:0011893 | HP:0032236 | Increased circulating immature neutrophil count | 3 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0032151 | Episodic eosinophilia | 3 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | ABCD4 CL E G H | 5826 | 68 | OMIM:614857 | Methylmalonic aciduria and homocystinuria, Cblj type | . | | | 53 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | . | | | 16 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | | | | 16 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | ADA CL E G H | 100 | 186 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 75 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | ADA CL E G H | 100 | 186 | ORPHA:277 | Severe combined immunodeficiency due to adenosine deaminase deficiency | HP:0040282 - Frequent | | | 75 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | ADA CL E G H | 100 | 186 | ORPHA:277 | Severe combined immunodeficiency due to adenosine deaminase deficiency | HP:0040282 - Frequent | | | 75 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | ADA CL E G H | 100 | 186 | OMIM:102700 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | . | | | 75 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | ADA CL E G H | 100 | 186 | OMIM:102700 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | . | | | 75 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 22 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | AGA CL E G H | 175 | 318 | OMIM:208400 | ASPARTYLGLUCOSAMINURIA | . | | | 76 | | |
HP:0011893 | HP:0012234 | Agranulocytosis | 3 | AK2 CL E G H | 204 | 362 | OMIM:267500 | Reticular dysgenesia | | | | 19 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | HP:0040282 - Frequent | | | 68 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | AMN CL E G H | 81693 | 14604 | ORPHA:35858 | Imerslund-Gräsbeck syndrome | HP:0040282 - Frequent | | | 25 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | ANAPC1 CL E G H | 64682 | 19988 | ORPHA:221008 | Rothmund-Thomson syndrome type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | AP3D1 CL E G H | 8943 | 568 | OMIM:617050 | HERMANSKY-PUDLAK SYNDROME 10; HPS10 | | | | 1 | | |
HP:0011893 | HP:0025539 | Abnormal B cell subset distribution | 3 | ARHGEF1 CL E G H | 9138 | 681 | OMIM:618459 | Immunodeficiency 62 | | | | | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | ARHGEF1 CL E G H | 9138 | 681 | OMIM:618459 | Immunodeficiency 62 | | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040283 - Occasional | | | 145 | | |
HP:0011893 | HP:0011897 | Neutrophilia | 3 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 145 | | |
HP:0011893 | HP:0031807 | Increased basophil count | 3 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 145 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 145 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | . | | | 3267 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | | | | 3267 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | ATP11A CL E G H | 23250 | 13552 | OMIM:619851 | LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24 | | | | | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:301045 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R | | | | 36 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | ATRX CL E G H | 546 | 886 | ORPHA:231401 | Alpha-thalassemia-myelodysplastic syndrome | HP:0040281 - Very frequent | | | 169 | | |
HP:0011893 | HP:0031891 | Decreased eosinophil count | 3 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | B2M CL E G H | 567 | 914 | OMIM:241600 | Immunodeficiency 43 | | | | 8 | | |
HP:0011893 | HP:0031808 | Decreased basophil count | 3 | BACH2 CL E G H | 60468 | 14078 | OMIM:618394 | IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60 | | | | | | |
HP:0011893 | HP:0025539 | Abnormal B cell subset distribution | 3 | BACH2 CL E G H | 60468 | 14078 | OMIM:618394 | IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60 | | | | | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | BCL10 CL E G H | 8915 | 989 | OMIM:616098 | IMMUNODEFICIENCY 37; IMD37 | | | | 18 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | BCL11B CL E G H | 64919 | 13222 | OMIM:617237 | Immunodeficiency 49 | . | | | 3 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | BCL11B CL E G H | 64919 | 13222 | OMIM:618092 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES | HP:0040284 - Very rare | | | 3 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | BCOR CL E G H | 54880 | 20893 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 101 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | | | | 314 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | BLNK CL E G H | 29760 | 14211 | OMIM:613502 | Agammaglobulinemia 4, autosomal recessive | . | | | 4 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | BLNK CL E G H | 29760 | 14211 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040283 - Occasional | | | 4 | | |
HP:0011893 | HP:0031891 | Decreased eosinophil count | 3 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | BTK CL E G H | 695 | 1133 | OMIM:300755 | Agammaglobulinemia, X-linked | | | | 109 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | BTK CL E G H | 695 | 1133 | OMIM:300755 | Agammaglobulinemia, X-linked | | | | 109 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | BTK CL E G H | 695 | 1133 | OMIM:307200 | Isolated growth hormone deficiency, type III, with agammaglobulinemia | | | | 109 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | BTK CL E G H | 695 | 1133 | ORPHA:47 | X-linked agammaglobulinemia | HP:0040282 - Frequent | | | 109 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | HP:0040284 - Very rare | | | 1 | | |
HP:0011893 | HP:0100828 | Increased T cell count | 3 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | HP:0040282 - Frequent | | | 1 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | CAMK2B CL E G H | 816 | 1461 | OMIM:617799 | Mental retardation, autosomal dominant 54 | | | | | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | CAPN3 CL E G H | 825 | 1480 | OMIM:253600 | Muscular dystrophy, limb-girdle, type 2A | . | | | 323 | | |
HP:0011893 | HP:0031891 | Decreased eosinophil count | 3 | CARD10 CL E G H | 29775 | 16422 | OMIM:619632 | IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89 | | | | 5 | | |
HP:0011893 | HP:0005404 | Increased B cell count | 3 | CARD11 CL E G H | 84433 | 16393 | OMIM:616452 | B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA | | | | 45 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | CARD11 CL E G H | 84433 | 16393 | OMIM:615206 | Card11 immunodeficiency | | | | 45 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | CARD11 CL E G H | 84433 | 16393 | OMIM:617638 | Immunodeficiency 11B with atopic dermatitis | . | | | 45 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | CARD9 CL E G H | 64170 | 16391 | OMIM:212050 | Candidiasis, familial chronic mucocutaneous, autosomal recessive | | | | 45 | | |
HP:0011893 | HP:0032061 | Hypereosinophilia | 3 | CARD9 CL E G H | 64170 | 16391 | OMIM:212050 | Candidiasis, familial chronic mucocutaneous, autosomal recessive | | | | 45 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 87 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 87 | | |
HP:0011893 | HP:0005404 | Increased B cell count | 3 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 87 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 87 | | |
HP:0011893 | HP:0005404 | Increased B cell count | 3 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | . | | | 87 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | . | | | 87 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | | | | 87 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | | | | 87 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | CASP8 CL E G H | 841 | 1509 | OMIM:607271 | CASPASE 8 DEFICIENCY | | | | 37 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | CBL CL E G H | 867 | 1541 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040283 - Occasional | | | 317 | | |
HP:0011893 | HP:0025539 | Abnormal B cell subset distribution | 3 | CD19 CL E G H | 930 | 1633 | OMIM:613493 | IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3 | | | | 38 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | CD247 CL E G H | 919 | 1677 | OMIM:610163 | IMMUNODEFICIENCY 25; IMD25 | | | | 8 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | CD247 CL E G H | 919 | 1677 | OMIM:610163 | IMMUNODEFICIENCY 25; IMD25 | | | | 8 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040283 - Occasional | | | 8 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 8 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040283 - Occasional | | | 18 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 18 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | CD3E CL E G H | 916 | 1674 | OMIM:615615 | Immunodeficiency 18 | | | | 24 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 24 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040283 - Occasional | | | 24 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | | | | 19 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | | | | 19 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | CD4 CL E G H | 920 | 1678 | OMIM:619238 | IMMUNODEFICIENCY 79; IMD79 | | | | 1 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | CD40 CL E G H | 958 | 11919 | OMIM:606843 | Immunodeficiency with hyper-igm, type 3 | . | | | 27 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | CD40LG CL E G H | 959 | 11935 | OMIM:308230 | Immunodeficiency, X-linked, with hyper-IgM | | | | 33 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | CD79A CL E G H | 973 | 1698 | OMIM:613501 | Agammaglobulinemia 3, autosomal recessive | HP:0040283 - Occasional | | | 9 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | CD79A CL E G H | 973 | 1698 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040283 - Occasional | | | 9 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | CD79B CL E G H | 974 | 1699 | OMIM:612692 | Agammaglobulinemia 6, autosomal recessive | | | | 6 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | CD79B CL E G H | 974 | 1699 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040283 - Occasional | | | 6 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | CD8A CL E G H | 925 | 1706 | OMIM:608957 | Cd8 deficiency, familial | | | | 4 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | CD8A CL E G H | 925 | 1706 | OMIM:608957 | Cd8 deficiency, familial | | | | 4 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | CDC40 CL E G H | 51362 | 17350 | OMIM:619302 | PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15 | | | | | | |
HP:0011893 | HP:0031891 | Decreased eosinophil count | 3 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | CDSN CL E G H | 1041 | 1802 | OMIM:270300 | Peeling skin syndrome 1 | | | | 7 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | CHD7 CL E G H | 55636 | 20626 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 515 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | CIITA CL E G H | 4261 | 7067 | OMIM:209920 | Bare lymphocyte syndrome, type II | . | | | 118 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | CIITA CL E G H | 4261 | 7067 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 118 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | CIITA CL E G H | 4261 | 7067 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040283 - Occasional | | | 118 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | CIITA CL E G H | 4261 | 7067 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040283 - Occasional | | | 118 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | CLPB CL E G H | 81570 | 30664 | ORPHA:445038 | 3-methylglutaconic aciduria type 7 | HP:0040281 - Very frequent | | | 38 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | CLPB CL E G H | 81570 | 30664 | OMIM:616271 | 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | HP:0040281 - Very frequent | | | 38 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | CLPB CL E G H | 81570 | 30664 | OMIM:619835 | 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A | | | | 38 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | CLPB CL E G H | 81570 | 30664 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040283 - Occasional | | | 38 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | CLPB CL E G H | 81570 | 30664 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040280 - Obligate | | | 38 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | COG4 CL E G H | 25839 | 18620 | OMIM:618150 | Saul-Wilson syndrome | . | | | 67 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | CSF3R CL E G H | 1441 | 2439 | OMIM:617014 | Neutropenia, severe congenital, 7, autosomal recessive | . | | | 34 | | |
HP:0011893 | HP:0011897 | Neutrophilia | 3 | CSF3R CL E G H | 1441 | 2439 | OMIM:162830 | Neutrophilia, hereditary | . | | | 34 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | CTNNBL1 CL E G H | 56259 | 15879 | OMIM:619846 | | | | | | | |
HP:0011893 | HP:0025539 | Abnormal B cell subset distribution | 3 | CTNNBL1 CL E G H | 56259 | 15879 | OMIM:619846 | | | | | | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | CTPS1 CL E G H | 1503 | 2519 | OMIM:615897 | IMMUNODEFICIENCY 24; IMD24 | | | | 2 | | |
HP:0011893 | HP:0025539 | Abnormal B cell subset distribution | 3 | CTPS1 CL E G H | 1503 | 2519 | OMIM:615897 | IMMUNODEFICIENCY 24; IMD24 | | | | 2 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | CUBN CL E G H | 8029 | 2548 | ORPHA:35858 | Imerslund-Gräsbeck syndrome | HP:0040282 - Frequent | | | 273 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | CXCR2 CL E G H | 3579 | 6027 | OMIM:619407 | WHIM SYNDROME 2; WHIMS2 | | | | 1 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | CXCR4 CL E G H | 7852 | 2561 | OMIM:193670 | Whim syndrome | | | | 9 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | CXCR4 CL E G H | 7852 | 2561 | ORPHA:51636 | WHIM syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:603554 | Omenn syndrome | . | | | 94 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:603554 | Omenn syndrome | . | | | 94 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 94 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:275 | Severe combined immunodeficiency due to DCLRE1C deficiency | | | | 94 | | |
HP:0011893 | HP:0031545 | Abnormally low T cell receptor excision circle level | 3 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:602450 | Severe combined immunodeficiency with sensitivity to ionizing radiation | | | | 94 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:602450 | Severe combined immunodeficiency with sensitivity to ionizing radiation | | | | 94 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:602450 | Severe combined immunodeficiency with sensitivity to ionizing radiation | | | | 94 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | 5 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | DNMT3B CL E G H | 1789 | 2979 | OMIM:242860 | Immunodeficiency-Centromeric instability-facial anomalies syndrome | . | | | 79 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | | | | 6 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | DOCK8 CL E G H | 81704 | 19191 | ORPHA:217390 | Combined immunodeficiency due to DOCK8 deficiency | HP:0040281 - Very frequent | | | 217 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | DOCK8 CL E G H | 81704 | 19191 | ORPHA:217390 | Combined immunodeficiency due to DOCK8 deficiency | HP:0040281 - Very frequent | | | 217 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | . | | | 217 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | | | | 217 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | | | | 217 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | EFL1 CL E G H | 79631 | 25789 | OMIM:617941 | Shwachman-Diamond syndrome 2 | . | | | 1 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | ELANE CL E G H | 1991 | 3309 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040283 - Occasional | | | 79 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | ELANE CL E G H | 1991 | 3309 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040280 - Obligate | | | 79 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | ELANE CL E G H | 1991 | 3309 | OMIM:162800 | Cyclic neutropenia | . | | | 79 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | ELANE CL E G H | 1991 | 3309 | ORPHA:2686 | Cyclic neutropenia | | | | 79 | | |
HP:0011893 | HP:0031891 | Decreased eosinophil count | 3 | ELANE CL E G H | 1991 | 3309 | ORPHA:2686 | Cyclic neutropenia | HP:0040283 - Occasional | | | 79 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | ELANE CL E G H | 1991 | 3309 | OMIM:202700 | Neutropenia, severe congenital, 1, autosomal dominant | . | | | 79 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | ELANE CL E G H | 1991 | 3309 | OMIM:202700 | Neutropenia, severe congenital, 1, autosomal dominant | | | | 79 | | |
HP:0011893 | HP:0012234 | Agranulocytosis | 3 | ELANE CL E G H | 1991 | 3309 | OMIM:202700 | Neutropenia, severe congenital, 1, autosomal dominant | | | | 79 | | |
HP:0011893 | HP:0025539 | Abnormal B cell subset distribution | 3 | ELF4 CL E G H | 2000 | 3319 | OMIM:301074 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2 | | | | 1 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | ETV6 CL E G H | 2120 | 3495 | OMIM:616216 | Thrombocytopenia 5 | HP:0040283 - Occasional | | | 13 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | EXTL3 CL E G H | 2137 | 3518 | OMIM:617425 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | . | | | 3 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | | | | 3 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | | | | 3 | | |
HP:0011893 | HP:0032061 | Hypereosinophilia | 3 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | FANCA CL E G H | 2175 | 3582 | OMIM:227650 | Fanconi anemia | . | | | 340 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | FANCC CL E G H | 2176 | 3584 | OMIM:227645 | Fanconi anemia, complementation group C | | | | 410 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | FANCE CL E G H | 2178 | 3586 | OMIM:600901 | Fanconi anemia, complementation group E | . | | | 73 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | FANCG CL E G H | 2189 | 3588 | OMIM:614082 | FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG | | | | 73 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | FANCI CL E G H | 55215 | 25568 | OMIM:609053 | Fanconi anemia, complementation group I | . | | | 157 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 59 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | FAS CL E G H | 355 | 11920 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0011893 | HP:0005404 | Increased B cell count | 3 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 59 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | FAS CL E G H | 355 | 11920 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | . | | | 59 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | FAS CL E G H | 355 | 11920 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | FASLG CL E G H | 356 | 11936 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | FASLG CL E G H | 356 | 11936 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0011893 | HP:0005404 | Increased B cell count | 3 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | FASLG CL E G H | 356 | 11936 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | . | | | 37 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | FBXL4 CL E G H | 26235 | 13601 | OMIM:615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | HP:0040283 - Occasional | | | 384 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | FBXW7 CL E G H | 55294 | 16712 | OMIM:620012 | | | | | 22 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | FCGR3B CL E G H | 2215 | 3620 | ORPHA:464370 | Neonatal alloimmune neutropenia | | | | 5 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | FCHO1 CL E G H | 23149 | 29002 | OMIM:619164 | IMMUNODEFICIENCY 76; IMD76 | | | | | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | FCHO1 CL E G H | 23149 | 29002 | OMIM:619164 | IMMUNODEFICIENCY 76; IMD76 | | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | FDX2 CL E G H | 112812 | 30546 | OMIM:251900 | Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | HP:0040284 - Very rare | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | FIBP CL E G H | 9158 | 3705 | ORPHA:500095 | Tall stature-intellectual disability-renal anomalies syndrome | | | | 2 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | FIP1L1 CL E G H | 81608 | 19124 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 4 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | FMO3 CL E G H | 2328 | 3771 | OMIM:602079 | Trimethylaminuria | . | | | 55 | | |
HP:0011893 | HP:0025539 | Abnormal B cell subset distribution | 3 | FNIP1 CL E G H | 96459 | 29418 | OMIM:619705 | IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93 | | | | 1 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | FNIP1 CL E G H | 96459 | 29418 | OMIM:619705 | IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93 | | | | 1 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | FNIP1 CL E G H | 96459 | 29418 | OMIM:619705 | IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93 | | | | 1 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | FOXN1 CL E G H | 8456 | 12765 | ORPHA:169095 | Severe combined immunodeficiency due to FOXN1 deficiency | HP:0040281 - Very frequent | | | 54 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | FOXN1 CL E G H | 8456 | 12765 | OMIM:601705 | T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY | | | | 54 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | FOXN1 CL E G H | 8456 | 12765 | OMIM:601705 | T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY | . | | | 54 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | FOXN1 CL E G H | 8456 | 12765 | OMIM:618806 | T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND | | | | 54 | | |
HP:0011893 | HP:0031545 | Abnormally low T cell receptor excision circle level | 3 | FOXN1 CL E G H | 8456 | 12765 | OMIM:618806 | T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND | | | | 54 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | | | | 32 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | FOXP3 CL E G H | 50943 | 6106 | OMIM:304790 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | | | | 32 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | FOXP3 CL E G H | 50943 | 6106 | OMIM:304790 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | | | | 32 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | FUT8 CL E G H | 2530 | 4019 | OMIM:618005 | Congenital disorder of glycosylation with defective fucosylation 1 | HP:0040284 - Very rare | | | 3 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | . | | | 37 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | GATA1 CL E G H | 2623 | 4170 | OMIM:300835 | Anemia, X-linked, with or without neutropenia and/or platelet abnormalities | . | | | 29 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 29 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | GATA2 CL E G H | 2624 | 4171 | OMIM:614172 | Immunodeficiency 21 | . | | | 137 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | GATA2 CL E G H | 2624 | 4171 | OMIM:614038 | Lymphedema, primary, with myelodysplasia | | | | 137 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | GFI1 CL E G H | 2672 | 4237 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040283 - Occasional | | | 56 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | GFI1 CL E G H | 2672 | 4237 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040280 - Obligate | | | 56 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | GFI1 CL E G H | 2672 | 4237 | OMIM:607847 | Neutropenia, nonimmune chronic idiopathic, of adults | . | | | 56 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | GFI1 CL E G H | 2672 | 4237 | OMIM:613107 | Neutropenia, severe congenital, 2, autosomal dominant | . | | | 56 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | GFI1 CL E G H | 2672 | 4237 | OMIM:613107 | Neutropenia, severe congenital, 2, autosomal dominant | . | | | 56 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | GINS1 CL E G H | 9837 | 28980 | OMIM:617827 | Immunodeficiency 55 | . | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | GSS CL E G H | 2937 | 4624 | OMIM:266130 | Glutathione synthetase deficiency | . | | | 39 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | GTF2H5 CL E G H | 404672 | 21157 | OMIM:616395 | Trichothiodystrophy 3, photosensitive | | | | 3 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | HAX1 CL E G H | 10456 | 16915 | OMIM:610738 | NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3 | | | | 32 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:133 | Chronic beryllium disease | | | | 1 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | HP:0040284 - Very rare | | | 2 | | |
HP:0011893 | HP:0100828 | Increased T cell count | 3 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | HP:0040282 - Frequent | | | 2 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | HSCB CL E G H | 150274 | 28913 | OMIM:619523 | ANEMIA, SIDEROBLASTIC, 5; SIDBA5 | | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | HTRA2 CL E G H | 27429 | 14348 | OMIM:617248 | 3-methylglutaconic aciduria, type VIII | . | | | 39 | | |
HP:0011893 | HP:0025539 | Abnormal B cell subset distribution | 3 | HYOU1 CL E G H | 10525 | 16931 | OMIM:233600 | Immunodeficiency 59 and hypoglycemia | | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | | | | 32 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | | | | 32 | | |
HP:0011893 | HP:0025539 | Abnormal B cell subset distribution | 3 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | | | | 32 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | IFNG CL E G H | 3458 | 5438 | ORPHA:88 | Idiopathic aplastic anemia | HP:0040283 - Occasional | | | 23 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | IGHM CL E G H | 3507 | 5541 | OMIM:601495 | Agammaglobulinemia 1, autosomal recessive | . | | | 7 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | IGHM CL E G H | 3507 | 5541 | OMIM:601495 | Agammaglobulinemia 1, autosomal recessive | . | | | 7 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | IGHM CL E G H | 3507 | 5541 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040283 - Occasional | | | 7 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | IGLL1 CL E G H | 3543 | 5870 | OMIM:613500 | Agammaglobulinemia 2, autosomal recessive | | | | 3 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | IGLL1 CL E G H | 3543 | 5870 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040283 - Occasional | | | 3 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0011893 | HP:0025539 | Abnormal B cell subset distribution | 3 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | IKBKG CL E G H | 8517 | 5961 | OMIM:301081 | | | | | 52 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | IKBKG CL E G H | 8517 | 5961 | OMIM:301081 | | | | | 52 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | HP:0040282 - Frequent | | | 52 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | . | | | 52 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | IKZF1 CL E G H | 10320 | 13176 | OMIM:616873 | IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13 | | | | 8 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | IKZF3 CL E G H | 22806 | 13178 | OMIM:619437 | IMMUNODEFICIENCY 84; IMD84 | | | | | | |
HP:0011893 | HP:0011897 | Neutrophilia | 3 | IL1RN CL E G H | 3557 | 6000 | OMIM:612852 | Interleukin 1 receptor antagonist deficiency | | | | 40 | | |
HP:0011893 | HP:0025539 | Abnormal B cell subset distribution | 3 | IL21 CL E G H | 59067 | 6005 | OMIM:615767 | IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11 | | | | 3 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | IL2RB CL E G H | 3560 | 6009 | OMIM:618495 | Immunodeficiency 63 with lymphoproliferation and autoimmunity | | | | | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | IL2RG CL E G H | 3561 | 6010 | OMIM:312863 | Combined immunodeficiency, X-linked | | | | 48 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | IL2RG CL E G H | 3561 | 6010 | OMIM:312863 | Combined immunodeficiency, X-linked | | | | 48 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | IL2RG CL E G H | 3561 | 6010 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 48 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | IL2RG CL E G H | 3561 | 6010 | OMIM:300400 | Severe combined immunodeficiency, X-linked | | | | 48 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | | | | 48 | | |
HP:0011893 | HP:0031545 | Abnormally low T cell receptor excision circle level | 3 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | HP:0040282 - Frequent | | | 48 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | | | | 48 | | |
HP:0011893 | HP:0011897 | Neutrophilia | 3 | IL36RN CL E G H | 26525 | 15561 | OMIM:614204 | PSORIASIS 14, PUSTULAR; PSORS14 | | | | 51 | | |
HP:0011893 | HP:0025539 | Abnormal B cell subset distribution | 3 | IL6R CL E G H | 3570 | 6019 | OMIM:618944 | HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5 | | | | 1 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | IL6ST CL E G H | 3572 | 6021 | OMIM:619752 | HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A | | | | | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | IL6ST CL E G H | 3572 | 6021 | OMIM:618523 | HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B | | | | | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | IL7 CL E G H | 3574 | 6023 | OMIM:618309 | EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5 | | | | | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | IL7R CL E G H | 3575 | 6024 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 94 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | IL7R CL E G H | 3575 | 6024 | OMIM:608971 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive | | | | 94 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | HP:0040283 - Occasional | | | 94 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | HP:0040282 - Frequent | | | 94 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | | | | 94 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | HP:0040283 - Occasional | | | 94 | | |
HP:0011893 | HP:0032061 | Hypereosinophilia | 3 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | IRAK4 CL E G H | 51135 | 17967 | OMIM:607676 | Immunodeficiency 67 | | | | 58 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | IRAK4 CL E G H | 51135 | 17967 | ORPHA:70592 | Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency | HP:0040281 - Very frequent | | | 58 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 4 | | |
HP:0011893 | HP:0025539 | Abnormal B cell subset distribution | 3 | IRF2BP2 CL E G H | 359948 | 21729 | OMIM:617765 | IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14 | | | | 4 | | |
HP:0011893 | HP:0011897 | Neutrophilia | 3 | IRF8 CL E G H | 3394 | 5358 | OMIM:226990 | Immunodeficiency 32B | | | | 5 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | IRF8 CL E G H | 3394 | 5358 | OMIM:226990 | Immunodeficiency 32B | | | | 5 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | ITCH CL E G H | 83737 | 13890 | ORPHA:228426 | Syndromic multisystem autoimmune disease due to Itch deficiency | | | | 3 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | ITK CL E G H | 3702 | 6171 | OMIM:613011 | LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1 | | | | 51 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | ITK CL E G H | 3702 | 6171 | OMIM:613011 | LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1 | | | | 51 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | JAGN1 CL E G H | 84522 | 26926 | OMIM:616022 | Neutropenia, severe congenital, 6, autosomal recessive | . | | | 8 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | JAK1 CL E G H | 3716 | 6190 | OMIM:618999 | AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE | | | | 12 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | JAK3 CL E G H | 3718 | 6193 | OMIM:600802 | Scid, autosomal recessive, T-Negative/b-Positive type | | | | 140 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | HP:0040283 - Occasional | | | 140 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | HP:0040281 - Very frequent | | | 140 | | |
HP:0011893 | HP:0031807 | Increased basophil count | 3 | KIT CL E G H | 3815 | 6342 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 327 | | |
HP:0011893 | HP:0011897 | Neutrophilia | 3 | KIT CL E G H | 3815 | 6342 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 327 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | KIT CL E G H | 3815 | 6342 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 327 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 1 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 1 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | KRAS CL E G H | 3845 | 6407 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | . | | | 196 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | LAMTOR2 CL E G H | 28956 | 29796 | OMIM:610798 | Immunodeficiency due to defect in mapbp-interacting protein | . | | | 1 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | LAMTOR2 CL E G H | 28956 | 29796 | ORPHA:90023 | Primary immunodeficiency syndrome due to LAMTOR2 deficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | LAT CL E G H | 27040 | 18874 | OMIM:617514 | Immunodeficiency 52 | | | | 2 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | LBR CL E G H | 3930 | 6518 | OMIM:169400 | Pelger-Huet anomaly | | | | 70 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | LCK CL E G H | 3932 | 6524 | OMIM:615758 | Immunodeficiency 22 | | | | 1 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | LCK CL E G H | 3932 | 6524 | OMIM:615758 | Immunodeficiency 22 | | | | 1 | | |
HP:0011893 | HP:0031545 | Abnormally low T cell receptor excision circle level | 3 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0011893 | HP:0025539 | Abnormal B cell subset distribution | 3 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | | | | 47 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | | | | 47 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | | | | 46 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | | | | 46 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | LIG1 CL E G H | 3978 | 6598 | OMIM:619774 | IMMUNODEFICIENCY 96; IMD96 | | | | 9 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | LIG4 CL E G H | 3981 | 6601 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | LMBRD1 CL E G H | 55788 | 23038 | ORPHA:79284 | Methylmalonic acidemia with homocystinuria type cblF | HP:0040283 - Occasional | | | 46 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | LMBRD1 CL E G H | 55788 | 23038 | OMIM:277380 | Methylmalonic aciduria and homocystinuria, Cblf type | . | | | 46 | | |
HP:0011893 | HP:0025539 | Abnormal B cell subset distribution | 3 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | LRRC8A CL E G H | 56262 | 19027 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040283 - Occasional | | | 3 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040283 - Occasional | | | 239 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | LYST CL E G H | 1130 | 1968 | OMIM:214500 | Chediak-Higashi syndrome | | | | 239 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | MAD2L2 CL E G H | 10459 | 6764 | OMIM:617243 | Fanconi anemia, complementation group V | . | | | 1 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | MAGT1 CL E G H | 84061 | 28880 | OMIM:300853 | IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN | | | | 17 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | MAGT1 CL E G H | 84061 | 28880 | OMIM:300853 | IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN | | | | 17 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | MCM10 CL E G H | 55388 | 18043 | OMIM:619313 | IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80 | | | | | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | MCM10 CL E G H | 55388 | 18043 | OMIM:619313 | IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80 | | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | MDM4 CL E G H | 4194 | 6974 | OMIM:618849 | BONE MARROW FAILURE SYNDROME 6; BMFS6 | | | | 1 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | MECOM CL E G H | 2122 | 3498 | OMIM:616738 | RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2 | | | | 4 | | |
HP:0011893 | HP:0011897 | Neutrophilia | 3 | MEFV CL E G H | 4210 | 6998 | OMIM:249100 | Familial Mediterranean fever, AR | | | | 281 | | |
HP:0011893 | HP:0011897 | Neutrophilia | 3 | MEFV CL E G H | 4210 | 6998 | ORPHA:3243 | Sweet syndrome | HP:0040282 - Frequent | | | 281 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | MMAA CL E G H | 166785 | 18871 | OMIM:251100 | Methylmalonic aciduria, Cbla type | . | | | 113 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | MMAB CL E G H | 326625 | 19331 | OMIM:251110 | Methylmalonic aciduria, Cblb type | . | | | 127 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | HP:0040283 - Occasional | | | 101 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | MMACHC CL E G H | 25974 | 24525 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | 101 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | MMUT CL E G H | 4594 | 7526 | OMIM:251000 | Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency | | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | MMUT CL E G H | 4594 | 7526 | ORPHA:79312 | Vitamin B12-unresponsive methylmalonic acidemia type mut- | HP:0040283 - Occasional | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | MMUT CL E G H | 4594 | 7526 | ORPHA:289916 | Vitamin B12-unresponsive methylmalonic acidemia type mut0 | HP:0040283 - Occasional | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | MSN CL E G H | 4478 | 7373 | OMIM:300988 | Immunodeficiency 50 | . | | | 2 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | MTRR CL E G H | 4552 | 7473 | ORPHA:2169 | Methylcobalamin deficiency type cblE | HP:0040283 - Occasional | | | 88 | | |
HP:0011893 | HP:0011897 | Neutrophilia | 3 | MVK CL E G H | 4598 | 7530 | OMIM:260920 | Hyper-Igd syndrome | | | | 150 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | MYC CL E G H | 4609 | 7553 | ORPHA:543 | Burkitt lymphoma | | | | 11 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | MYC CL E G H | 4609 | 7553 | ORPHA:543 | Burkitt lymphoma | | | | 11 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | MYD88 CL E G H | 4615 | 7562 | OMIM:612260 | MYD88 DEFICIENCY; MYD88D | | | | 9 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | MYSM1 CL E G H | 114803 | 29401 | ORPHA:508542 | Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome | HP:0040282 - Frequent | | | | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | MYSM1 CL E G H | 114803 | 29401 | ORPHA:508542 | Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome | HP:0040282 - Frequent | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | NABP1 CL E G H | 64859 | 26232 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | NBN CL E G H | 4683 | 7652 | OMIM:251260 | Nijmegen breakage syndrome | . | | | 706 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | NBN CL E G H | 4683 | 7652 | OMIM:251260 | Nijmegen breakage syndrome | . | | | 706 | | |
HP:0011893 | HP:0005404 | Increased B cell count | 3 | NCKAP1L CL E G H | 3071 | 4862 | OMIM:618982 | IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72 | | | | | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | NCKAP1L CL E G H | 3071 | 4862 | OMIM:618982 | IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72 | | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | NDUFA6 CL E G H | 4700 | 7690 | OMIM:618253 | Mitochondrial complex I deficiency, nuclear type 33 | | | | 1 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | | | | 11 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | NHEJ1 CL E G H | 79840 | 25737 | ORPHA:169079 | Cernunnos-XLF deficiency | HP:0040281 - Very frequent | | | 20 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | NHEJ1 CL E G H | 79840 | 25737 | ORPHA:169079 | Cernunnos-XLF deficiency | HP:0040281 - Very frequent | | | 20 | | |
HP:0011893 | HP:0032061 | Hypereosinophilia | 3 | NLRP1 CL E G H | 22861 | 14374 | OMIM:617388 | AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK | | | | 37 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | NLRP1 CL E G H | 22861 | 14374 | OMIM:617388 | AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK | | | | 37 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | NLRP3 CL E G H | 114548 | 16400 | OMIM:607115 | CINCA SYNDROME; CINCA | | | | 217 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | NPM1 CL E G H | 4869 | 7910 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 12 | | |
HP:0011893 | HP:0031891 | Decreased eosinophil count | 3 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | NRAS CL E G H | 4893 | 7989 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | . | | | 102 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | NSMCE3 CL E G H | 56160 | 7677 | OMIM:617241 | LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS | | | | 2 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | NSMCE3 CL E G H | 56160 | 7677 | OMIM:617241 | LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS | | | | 2 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | NUMA1 CL E G H | 4926 | 8059 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | OTULIN CL E G H | 90268 | 25118 | OMIM:617099 | AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS | | | | 3 | | |
HP:0011893 | HP:0011897 | Neutrophilia | 3 | OTULIN CL E G H | 90268 | 25118 | OMIM:617099 | AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS | | | | 3 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | PACS2 CL E G H | 23241 | 23794 | OMIM:618067 | Epileptic encephalopathy, early infantile, 66 | HP:0040284 - Very rare | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | PCCA CL E G H | 5095 | 8653 | OMIM:606054 | Propionic acidemia | . | | | 96 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | PCCB CL E G H | 5096 | 8654 | OMIM:606054 | Propionic acidemia | . | | | 92 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | PDGFRA CL E G H | 5156 | 8803 | OMIM:607685 | Hypereosinophilic syndrome, idiopathic | . | | | 337 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | PDGFRB CL E G H | 5159 | 8804 | OMIM:131440 | Myeloproliferative disorder, chronic, with eosinophilia | . | | | 28 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | PGM3 CL E G H | 5238 | 8907 | OMIM:615816 | Immunodeficiency 23 | | | | 15 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | PGM3 CL E G H | 5238 | 8907 | OMIM:615816 | Immunodeficiency 23 | | | | 15 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040283 - Occasional | | | 15 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040283 - Occasional | | | 15 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | | | | 15 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040282 - Frequent | | | 15 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 9 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 9 | | |
HP:0011893 | HP:0025539 | Abnormal B cell subset distribution | 3 | PIK3CD CL E G H | 5293 | 8977 | OMIM:615513 | IMMUNODEFICIENCY 14; IMD14 | | | | 9 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | PIK3CD CL E G H | 5293 | 8977 | OMIM:615513 | IMMUNODEFICIENCY 14; IMD14 | | | | 9 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | PIK3CD CL E G H | 5293 | 8977 | OMIM:619281 | IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B | | | | 9 | | |
HP:0011893 | HP:0011897 | Neutrophilia | 3 | PIK3CD CL E G H | 5293 | 8977 | OMIM:619281 | IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B | | | | 9 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:615214 | Agammaglobulinemia 7, autosomal recessive | . | | | 43 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040283 - Occasional | | | 43 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | | | | 43 | | |
HP:0011893 | HP:0025539 | Abnormal B cell subset distribution | 3 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | | | | 43 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | | | | 43 | | |
HP:0011893 | HP:0025539 | Abnormal B cell subset distribution | 3 | PLCG2 CL E G H | 5336 | 9066 | OMIM:614878 | Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated | | | | 21 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | PML CL E G H | 5371 | 9113 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 3 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | PNP CL E G H | 4860 | 7892 | OMIM:613179 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | | | | 52 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | PNP CL E G H | 4860 | 7892 | ORPHA:760 | Purine nucleoside phosphorylase deficiency | | | | 52 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | POMP CL E G H | 51371 | 20330 | OMIM:618048 | Proteasome-Associated autoinflammatory syndrome 2 | | | | 2 | | |
HP:0011893 | HP:0025539 | Abnormal B cell subset distribution | 3 | POMP CL E G H | 51371 | 20330 | OMIM:618048 | Proteasome-Associated autoinflammatory syndrome 2 | | | | 2 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | POMP CL E G H | 51371 | 20330 | OMIM:618048 | Proteasome-Associated autoinflammatory syndrome 2 | | | | 2 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | PPIL1 CL E G H | 51645 | 9260 | OMIM:619301 | PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14 | | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | PRDX1 CL E G H | 5052 | 9352 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | PRF1 CL E G H | 5551 | 9360 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 58 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | PRF1 CL E G H | 5551 | 9360 | ORPHA:88 | Idiopathic aplastic anemia | HP:0040283 - Occasional | | | 58 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | PRIM1 CL E G H | 5557 | 9369 | OMIM:620005 | | | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 134 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 10 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 10 | | |
HP:0011893 | HP:0005404 | Increased B cell count | 3 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 10 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0011893 | HP:0025539 | Abnormal B cell subset distribution | 3 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0011893 | HP:0005404 | Increased B cell count | 3 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0011893 | HP:0005404 | Increased B cell count | 3 | PTPRC CL E G H | 5788 | 9666 | OMIM:619924 | | | | | 25 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | PTPRC CL E G H | 5788 | 9666 | OMIM:619924 | | | | | 25 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RAB27A CL E G H | 5873 | 9766 | ORPHA:79477 | Griscelli syndrome type 2 | HP:0040282 - Frequent | | | 67 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0011893 | HP:0031545 | Abnormally low T cell receptor excision circle level | 3 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | RAC2 CL E G H | 5880 | 9802 | OMIM:618987 | IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C | | | | 9 | | |
HP:0011893 | HP:0031545 | Abnormally low T cell receptor excision circle level | 3 | RAC2 CL E G H | 5880 | 9802 | OMIM:618987 | IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C | | | | 9 | | |
HP:0011893 | HP:0031545 | Abnormally low T cell receptor excision circle level | 3 | RAC2 CL E G H | 5880 | 9802 | OMIM:608203 | NEUTROPHIL IMMUNODEFICIENCY SYNDROME | | | | 9 | | |
HP:0011893 | HP:0011897 | Neutrophilia | 3 | RAC2 CL E G H | 5880 | 9802 | OMIM:608203 | NEUTROPHIL IMMUNODEFICIENCY SYNDROME | | | | 9 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | RAG1 CL E G H | 5896 | 9831 | OMIM:233650 | Combined cellular and humoral immune defects with granulomas | . | | | 127 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | RAG1 CL E G H | 5896 | 9831 | OMIM:233650 | Combined cellular and humoral immune defects with granulomas | . | | | 127 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | RAG1 CL E G H | 5896 | 9831 | ORPHA:231154 | Combined immunodeficiency due to partial RAG1 deficiency | HP:0040281 - Very frequent | | | 127 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RAG1 CL E G H | 5896 | 9831 | ORPHA:231154 | Combined immunodeficiency due to partial RAG1 deficiency | | | | 127 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | RAG1 CL E G H | 5896 | 9831 | ORPHA:231154 | Combined immunodeficiency due to partial RAG1 deficiency | HP:0040281 - Very frequent | | | 127 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | RAG1 CL E G H | 5896 | 9831 | OMIM:603554 | Omenn syndrome | . | | | 127 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | RAG1 CL E G H | 5896 | 9831 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 127 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | RAG1 CL E G H | 5896 | 9831 | OMIM:603554 | Omenn syndrome | . | | | 127 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | | | | 127 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040283 - Occasional | | | 127 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | RAG1 CL E G H | 5896 | 9831 | OMIM:601457 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | . | | | 127 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | RAG1 CL E G H | 5896 | 9831 | OMIM:601457 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | . | | | 127 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | RAG2 CL E G H | 5897 | 9832 | OMIM:233650 | Combined cellular and humoral immune defects with granulomas | . | | | 50 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | RAG2 CL E G H | 5897 | 9832 | OMIM:233650 | Combined cellular and humoral immune defects with granulomas | . | | | 50 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | RAG2 CL E G H | 5897 | 9832 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 50 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | RAG2 CL E G H | 5897 | 9832 | OMIM:603554 | Omenn syndrome | . | | | 50 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | RAG2 CL E G H | 5897 | 9832 | OMIM:603554 | Omenn syndrome | . | | | 50 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040283 - Occasional | | | 50 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | | | | 50 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | RAG2 CL E G H | 5897 | 9832 | OMIM:601457 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | . | | | 50 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | RAG2 CL E G H | 5897 | 9832 | OMIM:601457 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | . | | | 50 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RARA CL E G H | 5914 | 9864 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 2 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | | | |
HP:0011893 | HP:0005404 | Increased B cell count | 3 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0011893 | HP:0025539 | Abnormal B cell subset distribution | 3 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:221016 | Rothmund-Thomson syndrome type 2 | HP:0040283 - Occasional | | | 445 | | |
HP:0011893 | HP:0025539 | Abnormal B cell subset distribution | 3 | REL CL E G H | 5966 | 9954 | OMIM:619652 | IMMUNODEFICIENCY 92; IMD92 | | | | 1 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | REL CL E G H | 5966 | 9954 | OMIM:619652 | IMMUNODEFICIENCY 92; IMD92 | | | | 1 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RFX5 CL E G H | 5993 | 9986 | OMIM:209920 | Bare lymphocyte syndrome, type II | . | | | 38 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RFX5 CL E G H | 5993 | 9986 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040283 - Occasional | | | 38 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | RFX5 CL E G H | 5993 | 9986 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040283 - Occasional | | | 38 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | RFX5 CL E G H | 5993 | 9986 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 38 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RFXANK CL E G H | 8625 | 9987 | OMIM:209920 | Bare lymphocyte syndrome, type II | . | | | 26 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RFXANK CL E G H | 8625 | 9987 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040283 - Occasional | | | 26 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | RFXANK CL E G H | 8625 | 9987 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040283 - Occasional | | | 26 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | RFXANK CL E G H | 8625 | 9987 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 26 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RFXAP CL E G H | 5994 | 9988 | OMIM:209920 | Bare lymphocyte syndrome, type II | . | | | 34 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | RFXAP CL E G H | 5994 | 9988 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040283 - Occasional | | | 34 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RFXAP CL E G H | 5994 | 9988 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040283 - Occasional | | | 34 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | RFXAP CL E G H | 5994 | 9988 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 34 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | RIPK1 CL E G H | 8737 | 10019 | OMIM:618108 | IMMUNODEFICIENCY 57; IMD57 | | | | | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | RIPK1 CL E G H | 8737 | 10019 | OMIM:618108 | IMMUNODEFICIENCY 57; IMD57 | | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RMRP CL E G H | 6023 | 10031 | OMIM:250250 | Cartilage-Hair hypoplasia | . | | | 37 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RMRP CL E G H | 6023 | 10031 | ORPHA:175 | Cartilage-hair hypoplasia | HP:0040281 - Very frequent | | | 37 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | RMRP CL E G H | 6023 | 10031 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:616651 | Roifman syndrome | . | | | 15 | | |
HP:0011893 | HP:0031545 | Abnormally low T cell receptor excision circle level | 3 | RPA1 CL E G H | 6117 | 10289 | OMIM:619767 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6 | | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 22 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RPL11 CL E G H | 6135 | 10301 | OMIM:612562 | Diamond-Blackfan anemia 7 | . | | | 22 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RPL18 CL E G H | 6141 | 10310 | OMIM:618310 | DIAMOND-BLACKFAN ANEMIA 18; DBA18 | | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RPL26 CL E G H | 6154 | 10327 | OMIM:614900 | Diamond-Blackfan anemia 11 | . | | | 3 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 11 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 40 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 26 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 5 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RPS17 CL E G H | 6218 | 10397 | OMIM:612527 | Diamond-Blackfan anemia 4 | . | | | 5 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 42 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | | | | 42 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 22 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 20 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 20 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RPS7 CL E G H | 6201 | 10440 | OMIM:612563 | Diamond-Blackfan anemia 8 | . | | | 20 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | RUNX1 CL E G H | 861 | 10471 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040283 - Occasional | | | 181 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | SAMD9 CL E G H | 54809 | 1348 | OMIM:619041 | MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2 | | | | 8 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | SAMD9L CL E G H | 219285 | 1349 | OMIM:159550 | Ataxia-Pancytopenia syndrome | | | | 4 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | SBDS CL E G H | 51119 | 19440 | ORPHA:88 | Idiopathic aplastic anemia | HP:0040283 - Occasional | | | 26 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040281 - Very frequent | | | 26 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | SBDS CL E G H | 51119 | 19440 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | 26 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | SEC61A1 CL E G H | 29927 | 18276 | OMIM:617056 | Tubulointerstitial kidney disease, autosomal dominant, 5 | . | | | 2 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | HP:0040284 - Very rare | | | 19 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | SH2D1A CL E G H | 4068 | 10820 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 37 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | SLC27A4 CL E G H | 10999 | 10998 | ORPHA:88621 | Ichthyosis-prematurity syndrome | HP:0040281 - Very frequent | | | 26 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | SLC35A1 CL E G H | 10559 | 11021 | OMIM:603585 | Congenital disorder of glycosylation, type IIf | | | | 24 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | SLC35A1 CL E G H | 10559 | 11021 | ORPHA:238459 | SLC35A1-CDG | HP:0040281 - Very frequent | | | 24 | | |
HP:0011893 | HP:0011897 | Neutrophilia | 3 | SLC35C1 CL E G H | 55343 | 20197 | OMIM:266265 | Congenital disorder of glycosylation, type IIc | . | | | 71 | | |
HP:0011893 | HP:0011897 | Neutrophilia | 3 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | HP:0040281 - Very frequent | | | 71 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | SLC37A4 CL E G H | 2542 | 4061 | ORPHA:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | | | | 110 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232220 | Glycogen storage disease ib | . | | | 110 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232240 | GLYCOGEN STORAGE DISEASE Ic | | | | 110 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | SLC39A7 CL E G H | 7922 | 4927 | OMIM:619693 | AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9 | | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | SLC46A1 CL E G H | 113235 | 30521 | OMIM:229050 | Folate malabsorption, hereditary | . | | | 101 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | SLC46A1 CL E G H | 113235 | 30521 | ORPHA:90045 | Hereditary folate malabsorption | HP:0040283 - Occasional | | | 101 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | . | | | 74 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | HP:0040282 - Frequent | | | 74 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | | | | 74 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | SMARCD2 CL E G H | 6603 | 11107 | OMIM:617475 | SPECIFIC GRANULE DEFICIENCY 2; SGD2 | | | | 3 | | |
HP:0011893 | HP:0025539 | Abnormal B cell subset distribution | 3 | SOCS1 CL E G H | 8651 | 19383 | OMIM:619375 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD | | | | 6 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | HP:0040282 - Frequent | | | 49 | | |
HP:0011893 | HP:0025539 | Abnormal B cell subset distribution | 3 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | | | | 49 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | SPI1 CL E G H | 6688 | 11241 | OMIM:619707 | AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10 | | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | SPI1 CL E G H | 6688 | 11241 | OMIM:619707 | AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10 | | | | | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | SPINK5 CL E G H | 11005 | 15464 | OMIM:256500 | Netherton syndrome | | | | 100 | | |
HP:0011893 | HP:0032061 | Hypereosinophilia | 3 | SPINK5 CL E G H | 11005 | 15464 | OMIM:256500 | Netherton syndrome | . | | | 100 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | SREBF1 CL E G H | 6720 | 11289 | OMIM:158310 | Mucoepithelial dysplasia, hereditary | . | | | 1 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | SRP54 CL E G H | 6729 | 11301 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040283 - Occasional | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | SRP54 CL E G H | 6729 | 11301 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040280 - Obligate | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | SRP54 CL E G H | 6729 | 11301 | OMIM:618752 | NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8 | | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040281 - Very frequent | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | SRP54 CL E G H | 6729 | 11301 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040283 - Occasional | | | 1 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 1 | | |
HP:0011893 | HP:0011897 | Neutrophilia | 3 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 1 | | |
HP:0011893 | HP:0031807 | Increased basophil count | 3 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 1 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040282 - Frequent | | | 89 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | 89 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | STAT3 CL E G H | 6774 | 11364 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 110 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | STAT3 CL E G H | 6774 | 11364 | OMIM:615952 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1 | | | | 110 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | STAT3 CL E G H | 6774 | 11364 | ORPHA:2314 | Autosomal dominant hyper-IgE syndrome | HP:0040282 - Frequent | | | 110 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | STAT3 CL E G H | 6774 | 11364 | OMIM:147060 | Hyper-IgE recurrent infection syndrome | | | | 110 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | STAT5B CL E G H | 6777 | 11367 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 12 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | STK4 CL E G H | 6789 | 11408 | OMIM:614868 | T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS | . | | | 4 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | STX11 CL E G H | 8676 | 11429 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 85 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | STX11 CL E G H | 8676 | 11429 | OMIM:603552 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 | | | | 85 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | STXBP2 CL E G H | 6813 | 11445 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 70 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | TAFAZZIN CL E G H | 6901 | 11577 | OMIM:302060 | Barth syndrome | HP:0040283 - Occasional | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0011893 | HP:0011897 | Neutrophilia | 3 | TBK1 CL E G H | 29110 | 11584 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040282 - Frequent | | | 20 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 22 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | TBX21 CL E G H | 30009 | 11599 | OMIM:619630 | IMMUNODEFICIENCY 88; IMD88 | | | | 1 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | TCF3 CL E G H | 6929 | 11633 | OMIM:616941 | Agammaglobulinemia 8, autosomal dominant | | | | 2 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | TCF3 CL E G H | 6929 | 11633 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040283 - Occasional | | | 2 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040283 - Occasional | | | 82 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040280 - Obligate | | | 82 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | TCN2 CL E G H | 6948 | 11653 | ORPHA:859 | Transcobalamin deficiency | HP:0040282 - Frequent | | | 57 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | TCN2 CL E G H | 6948 | 11653 | OMIM:275350 | Transcobalamin II deficiency | . | | | 57 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | TDP2 CL E G H | 51567 | 17768 | OMIM:616949 | Spinocerebellar ataxia, autosomal recessive 23 | . | | | 3 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | TERC CL E G H | 7012 | 11727 | ORPHA:88 | Idiopathic aplastic anemia | HP:0040283 - Occasional | | | 48 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | TERT CL E G H | 7015 | 11730 | OMIM:613989 | Dyskeratosis congenita, autosomal dominant 2 | | | | 238 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | TERT CL E G H | 7015 | 11730 | ORPHA:88 | Idiopathic aplastic anemia | HP:0040283 - Occasional | | | 238 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | TET2 CL E G H | 54790 | 25941 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | TET2 CL E G H | 54790 | 25941 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040283 - Occasional | | | 3 | | |
HP:0011893 | HP:0025539 | Abnormal B cell subset distribution | 3 | TET2 CL E G H | 54790 | 25941 | OMIM:619126 | IMMUNODEFICIENCY 75; IMD75 | | | | 3 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | TET2 CL E G H | 54790 | 25941 | ORPHA:98826 | Refractory anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | TET2 CL E G H | 54790 | 25941 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 3 | | |
HP:0011893 | HP:0011897 | Neutrophilia | 3 | TET2 CL E G H | 54790 | 25941 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 3 | | |
HP:0011893 | HP:0031807 | Increased basophil count | 3 | TET2 CL E G H | 54790 | 25941 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 3 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | TFR2 CL E G H | 7036 | 11762 | OMIM:604250 | Hemochromatosis, type 3 | . | | | 67 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | TFRC CL E G H | 7037 | 11763 | OMIM:616740 | Immunodeficiency 46 | | | | 1 | | |
HP:0011893 | HP:0011897 | Neutrophilia | 3 | TICAM1 CL E G H | 148022 | 18348 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040282 - Frequent | | | 6 | | |
HP:0011893 | HP:0011897 | Neutrophilia | 3 | TLR3 CL E G H | 7098 | 11849 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040282 - Frequent | | | 3 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | |
HP:0011893 | HP:0012234 | Agranulocytosis | 3 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040282 - Frequent | | | | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | TOM1 CL E G H | 10043 | 11982 | OMIM:619510 | IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85 | | | | | | |
HP:0011893 | HP:0025539 | Abnormal B cell subset distribution | 3 | TOM1 CL E G H | 10043 | 11982 | OMIM:619510 | IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85 | | | | | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | TOM1 CL E G H | 10043 | 11982 | OMIM:619510 | IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85 | | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | HP:0040283 - Occasional | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | TONSL CL E G H | 4796 | 7801 | OMIM:271510 | Spondyloepimetaphyseal dysplasia, Sponastrime type | HP:0040284 - Very rare | | | | | |
HP:0011893 | HP:0031891 | Decreased eosinophil count | 3 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | TPP2 CL E G H | 7174 | 12016 | OMIM:619220 | IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78 | | | | | | |
HP:0011893 | HP:0032061 | Hypereosinophilia | 3 | TRAC CL E G H | 28755 | 12029 | OMIM:615387 | T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY | . | | | 1 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | TRAC CL E G H | 28755 | 12029 | OMIM:615387 | T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY | | | | 1 | | |
HP:0011893 | HP:0011897 | Neutrophilia | 3 | TRAF3 CL E G H | 7187 | 12033 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040282 - Frequent | | | 2 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | TRNT1 CL E G H | 51095 | 17341 | OMIM:616084 | SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD | | | | 28 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | HP:0040283 - Occasional | | | 7 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | UNC119 CL E G H | 9094 | 12565 | OMIM:615518 | IMMUNODEFICIENCY 13; IMD13 | | | | 30 | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | UNC119 CL E G H | 9094 | 12565 | OMIM:615518 | IMMUNODEFICIENCY 13; IMD13 | | | | 30 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | UNC119 CL E G H | 9094 | 12565 | OMIM:615518 | IMMUNODEFICIENCY 13; IMD13 | | | | 30 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | UNC13D CL E G H | 201294 | 23147 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 116 | | |
HP:0011893 | HP:0011897 | Neutrophilia | 3 | UNC93B1 CL E G H | 81622 | 13481 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040282 - Frequent | | | 5 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | USB1 CL E G H | 79650 | 25792 | OMIM:604173 | Poikiloderma with neutropenia | | | | 8 | | |
HP:0011893 | HP:0031891 | Decreased eosinophil count | 3 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0011893 | HP:0031891 | Decreased eosinophil count | 3 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | VPS13B CL E G H | 157680 | 2183 | ORPHA:193 | Cohen syndrome | HP:0040281 - Very frequent | | | 546 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | VPS13B CL E G H | 157680 | 2183 | OMIM:216550 | Cohen syndrome | . | | | 546 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | VPS33A CL E G H | 65082 | 18179 | OMIM:617303 | Mucopolysaccharidosis-Plus syndrome | | | | 1 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | VPS45 CL E G H | 11311 | 14579 | OMIM:615285 | Neutropenia, severe congenital, 5, autosomal recessive | . | | | 7 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | WAS CL E G H | 7454 | 12731 | OMIM:300299 | Neutropenia, severe congenital, X-linked | | | | 65 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | WAS CL E G H | 7454 | 12731 | OMIM:300299 | Neutropenia, severe congenital, X-linked | . | | | 65 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | WAS CL E G H | 7454 | 12731 | ORPHA:86788 | X-linked severe congenital neutropenia | HP:0040281 - Very frequent | | | 65 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | . | | | | | |
HP:0011893 | HP:0010976 | B lymphocytopenia | 3 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | WIPF1 CL E G H | 7456 | 12736 | OMIM:614493 | WISKOTT-ALDRICH SYNDROME 2; WAS2 | | | | 6 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | WIPF1 CL E G H | 7456 | 12736 | OMIM:614493 | WISKOTT-ALDRICH SYNDROME 2; WAS2 | | | | 6 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | XIAP CL E G H | 331 | 592 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 81 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | ZAP70 CL E G H | 7535 | 12858 | OMIM:617006 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2 | | | | 46 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | | | | 46 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | | | | 46 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | HP:0040283 - Occasional | | | 46 | | |
HP:0011893 | HP:0025540 | Abnormal T cell subset distribution | 3 | ZAP70 CL E G H | 7535 | 12858 | OMIM:269840 | SELECTIVE T-CELL DEFECT | | | | 46 | | |
HP:0011893 | HP:0005403 | T lymphocytopenia | 3 | ZAP70 CL E G H | 7535 | 12858 | OMIM:269840 | SELECTIVE T-CELL DEFECT | | | | 46 | | |
HP:0011893 | HP:0001875 | Neutropenia | 3 | ZBTB16 CL E G H | 7704 | 12930 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 1 | | |
HP:0011893 | HP:0001880 | Eosinophilia | 3 | ZNF341 CL E G H | 84905 | 15992 | OMIM:618282 | Hyper-Ige recurrent infection syndrome 3, autosomal recessive | HP:0040284 - Very rare | | | 1 | | |
HP:0011893 | HP:0011897 | Neutrophilia | 3 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |
HP:0011893 | HP:0041080 | Abnormal proportion of exhausted T cells | 4 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0500272 | Abnormal proportion of immature gamma-delta T cells | 4 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0032577 | Clonal T cell receptor rearrangement | 4 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0030370 | Abnormal proportion of naive B cells | 4 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0032151 | Episodic eosinophilia | 4 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0030251 | Absence of memory B cells | 4 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0012235 | Drug-induced agranulocytosis | 4 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0410258 | Neutrophilia in absence of infection | 4 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0030376 | Abnormal proportion of immature B cells | 4 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0032239 | Increased circulating band cell count | 4 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0410257 | Neutrophilia in presence of infection | 4 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0032238 | Increased circulating metamyelocyte count | 4 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0032127 | Abnormal plasmablast proportion | 4 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0032237 | Increased circulating myelocyte count | 4 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0005365 | Severe B lymphocytopenia | 4 | ADA CL E G H | 100 | 186 | OMIM:102700 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | . | | | 75 | | |
HP:0011893 | HP:0005541 | Congenital agranulocytosis | 4 | AK2 CL E G H | 204 | 362 | OMIM:267500 | Reticular dysgenesia | | | | 19 | | |
HP:0011893 | HP:0031394 | Abnormal CD4:CD8 ratio | 4 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0011893 | HP:0030379 | Abnormal proportion of transitional B cells | 4 | ARHGEF1 CL E G H | 9138 | 681 | OMIM:618459 | Immunodeficiency 62 | | | | | | |
HP:0011893 | HP:0030373 | Abnormal proportion of memory B cells | 4 | ARHGEF1 CL E G H | 9138 | 681 | OMIM:618459 | Immunodeficiency 62 | | | | | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 4 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | . | | | 3267 | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | | | | 3267 | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:301045 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R | | | | 36 | | |
HP:0011893 | HP:0030373 | Abnormal proportion of memory B cells | 4 | BACH2 CL E G H | 60468 | 14078 | OMIM:618394 | IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60 | | | | | | |
HP:0011893 | HP:0032182 | Abnormal proportion of memory T cells | 4 | BCL10 CL E G H | 8915 | 989 | OMIM:616098 | IMMUNODEFICIENCY 37; IMD37 | | | | 18 | | |
HP:0011893 | HP:0031393 | Abnormal proportion of CD8-positive T cells | 4 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | HP:0040282 - Frequent | | | 314 | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | | | | 314 | | |
HP:0011893 | HP:0030252 | Absent circulating B cells | 4 | BTK CL E G H | 695 | 1133 | OMIM:307200 | Isolated growth hormone deficiency, type III, with agammaglobulinemia | | | | 109 | | |
HP:0011893 | HP:0020111 | Abnormal CD4+CD25+ regulatory T cell proportion | 4 | CARD11 CL E G H | 84433 | 16393 | OMIM:615206 | Card11 immunodeficiency | | | | 45 | | |
HP:0011893 | HP:0032061 | Hypereosinophilia | 4 | CARD9 CL E G H | 64170 | 16391 | OMIM:212050 | Candidiasis, familial chronic mucocutaneous, autosomal recessive | | | | 45 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 4 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0011893 | HP:0031399 | Abnormal proportion of double-negative alpha-beta regulatory T cell | 4 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 87 | | |
HP:0011893 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 4 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 87 | | |
HP:0011893 | HP:0031393 | Abnormal proportion of CD8-positive T cells | 4 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0011893 | HP:0031399 | Abnormal proportion of double-negative alpha-beta regulatory T cell | 4 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | | | | 87 | | |
HP:0011893 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 4 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | . | | | 87 | | |
HP:0011893 | HP:0002853 | Increased proportion of HLA DR+ T cells | 4 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | . | | | 87 | | |
HP:0011893 | HP:0031394 | Abnormal CD4:CD8 ratio | 4 | CASP8 CL E G H | 841 | 1509 | OMIM:607271 | CASPASE 8 DEFICIENCY | | | | 37 | | |
HP:0011893 | HP:0030373 | Abnormal proportion of memory B cells | 4 | CD19 CL E G H | 930 | 1633 | OMIM:613493 | IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3 | | | | 38 | | |
HP:0011893 | HP:0045080 | Decreased proportion of CD3-positive T cells | 4 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040282 - Frequent | | | 8 | | |
HP:0011893 | HP:0045080 | Decreased proportion of CD3-positive T cells | 4 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040282 - Frequent | | | 18 | | |
HP:0011893 | HP:0045080 | Decreased proportion of CD3-positive T cells | 4 | CD3E CL E G H | 916 | 1674 | OMIM:615615 | Immunodeficiency 18 | | | | 24 | | |
HP:0011893 | HP:0045080 | Decreased proportion of CD3-positive T cells | 4 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040282 - Frequent | | | 24 | | |
HP:0011893 | HP:0031393 | Abnormal proportion of CD8-positive T cells | 4 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | | | | 19 | | |
HP:0011893 | HP:0005415 | Decreased proportion of CD8-positive T cells | 4 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | . | | | 19 | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | CD4 CL E G H | 920 | 1678 | OMIM:619238 | IMMUNODEFICIENCY 79; IMD79 | | | | 1 | | |
HP:0011893 | HP:0031393 | Abnormal proportion of CD8-positive T cells | 4 | CD8A CL E G H | 925 | 1706 | OMIM:608957 | Cd8 deficiency, familial | | | | 4 | | |
HP:0011893 | HP:0005415 | Decreased proportion of CD8-positive T cells | 4 | CD8A CL E G H | 925 | 1706 | OMIM:608957 | Cd8 deficiency, familial | | | | 4 | | |
HP:0011893 | HP:0410252 | Chronic neutropenia | 4 | CDC40 CL E G H | 51362 | 17350 | OMIM:619302 | PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15 | | | | | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 4 | CIITA CL E G H | 4261 | 7067 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040282 - Frequent | | | 118 | | |
HP:0011893 | HP:0031394 | Abnormal CD4:CD8 ratio | 4 | CIITA CL E G H | 4261 | 7067 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040283 - Occasional | | | 118 | | |
HP:0011893 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 4 | CIITA CL E G H | 4261 | 7067 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040283 - Occasional | | | 118 | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | CIITA CL E G H | 4261 | 7067 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 118 | | |
HP:0011893 | HP:0410255 | Transient neutropenia | 4 | CLPB CL E G H | 81570 | 30664 | ORPHA:445038 | 3-methylglutaconic aciduria type 7 | | | | 38 | | |
HP:0011893 | HP:0030373 | Abnormal proportion of memory B cells | 4 | CTNNBL1 CL E G H | 56259 | 15879 | OMIM:619846 | | | | | | | |
HP:0011893 | HP:0020111 | Abnormal CD4+CD25+ regulatory T cell proportion | 4 | CTNNBL1 CL E G H | 56259 | 15879 | OMIM:619846 | | | | | | | |
HP:0011893 | HP:0030373 | Abnormal proportion of memory B cells | 4 | CTPS1 CL E G H | 1503 | 2519 | OMIM:615897 | IMMUNODEFICIENCY 24; IMD24 | | | | 2 | | |
HP:0011893 | HP:0031394 | Abnormal CD4:CD8 ratio | 4 | CTPS1 CL E G H | 1503 | 2519 | OMIM:615897 | IMMUNODEFICIENCY 24; IMD24 | | | | 2 | | |
HP:0011893 | HP:4000039 | Reduced proportion of mucosal-associated invariant T cells | 4 | CTPS1 CL E G H | 1503 | 2519 | OMIM:615897 | IMMUNODEFICIENCY 24; IMD24 | | | | 2 | | |
HP:0011893 | HP:0410252 | Chronic neutropenia | 4 | CXCR2 CL E G H | 3579 | 6027 | OMIM:619407 | WHIM SYNDROME 2; WHIMS2 | | | | 1 | | |
HP:0011893 | HP:0005365 | Severe B lymphocytopenia | 4 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:603554 | Omenn syndrome | . | | | 94 | | |
HP:0011893 | HP:0045080 | Decreased proportion of CD3-positive T cells | 4 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:275 | Severe combined immunodeficiency due to DCLRE1C deficiency | HP:0040283 - Occasional | | | 94 | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0011893 | HP:0031394 | Abnormal CD4:CD8 ratio | 4 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0011893 | HP:0410255 | Transient neutropenia | 4 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0011893 | HP:0410252 | Chronic neutropenia | 4 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 4 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | | | | 217 | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | | | | 217 | | |
HP:0011893 | HP:0410252 | Chronic neutropenia | 4 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0011893 | HP:0410255 | Transient neutropenia | 4 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0011893 | HP:0040289 | Cyclic neutropenia | 4 | ELANE CL E G H | 1991 | 3309 | ORPHA:2686 | Cyclic neutropenia | HP:0040281 - Very frequent | | | 79 | | |
HP:0011893 | HP:0040289 | Cyclic neutropenia | 4 | ELANE CL E G H | 1991 | 3309 | OMIM:162800 | Cyclic neutropenia | . | | | 79 | | |
HP:0011893 | HP:0005541 | Congenital agranulocytosis | 4 | ELANE CL E G H | 1991 | 3309 | OMIM:202700 | Neutropenia, severe congenital, 1, autosomal dominant | . | | | 79 | | |
HP:0011893 | HP:0030373 | Abnormal proportion of memory B cells | 4 | ELF4 CL E G H | 2000 | 3319 | OMIM:301074 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2 | | | | 1 | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 4 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | . | | | 40 | | |
HP:0011893 | HP:0005415 | Decreased proportion of CD8-positive T cells | 4 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | | | | 3 | | |
HP:0011893 | HP:0031393 | Abnormal proportion of CD8-positive T cells | 4 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | | | | 3 | | |
HP:0011893 | HP:0032061 | Hypereosinophilia | 4 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 4 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 4 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 59 | | |
HP:0011893 | HP:0031393 | Abnormal proportion of CD8-positive T cells | 4 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 59 | | |
HP:0011893 | HP:0002853 | Increased proportion of HLA DR+ T cells | 4 | FAS CL E G H | 355 | 11920 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | . | | | 59 | | |
HP:0011893 | HP:0031399 | Abnormal proportion of double-negative alpha-beta regulatory T cell | 4 | FAS CL E G H | 355 | 11920 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0011893 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 4 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 59 | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 59 | | |
HP:0011893 | HP:0031399 | Abnormal proportion of double-negative alpha-beta regulatory T cell | 4 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0011893 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 4 | FAS CL E G H | 355 | 11920 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | . | | | 59 | | |
HP:0011893 | HP:0031399 | Abnormal proportion of double-negative alpha-beta regulatory T cell | 4 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0011893 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 4 | FASLG CL E G H | 356 | 11936 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | . | | | 37 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 4 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0011893 | HP:0031399 | Abnormal proportion of double-negative alpha-beta regulatory T cell | 4 | FASLG CL E G H | 356 | 11936 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0011893 | HP:0031393 | Abnormal proportion of CD8-positive T cells | 4 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0011893 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 4 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0011893 | HP:0002853 | Increased proportion of HLA DR+ T cells | 4 | FASLG CL E G H | 356 | 11936 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | . | | | 37 | | |
HP:0011893 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 4 | FCGR3B CL E G H | 2215 | 3620 | ORPHA:464370 | Neonatal alloimmune neutropenia | HP:0040281 - Very frequent | | | 5 | | |
HP:0011893 | HP:0410255 | Transient neutropenia | 4 | FIBP CL E G H | 9158 | 3705 | ORPHA:500095 | Tall stature-intellectual disability-renal anomalies syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0011893 | HP:0410252 | Chronic neutropenia | 4 | FIBP CL E G H | 9158 | 3705 | ORPHA:500095 | Tall stature-intellectual disability-renal anomalies syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0011893 | HP:0030252 | Absent circulating B cells | 4 | FNIP1 CL E G H | 96459 | 29418 | OMIM:619705 | IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93 | | | | 1 | | |
HP:0011893 | HP:0030373 | Abnormal proportion of memory B cells | 4 | FNIP1 CL E G H | 96459 | 29418 | OMIM:619705 | IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93 | | | | 1 | | |
HP:0011893 | HP:0500263 | Abnormal helper T cell proportion | 4 | FOXN1 CL E G H | 8456 | 12765 | OMIM:601705 | T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY | | | | 54 | | |
HP:0011893 | HP:0008165 | Decreased helper T cell proportion | 4 | FOXN1 CL E G H | 8456 | 12765 | OMIM:601705 | T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY | . | | | 54 | | |
HP:0011893 | HP:0031399 | Abnormal proportion of double-negative alpha-beta regulatory T cell | 4 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | | | | 32 | | |
HP:0011893 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 4 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0011893 | HP:0031394 | Abnormal CD4:CD8 ratio | 4 | GATA2 CL E G H | 2624 | 4171 | OMIM:614038 | Lymphedema, primary, with myelodysplasia | | | | 137 | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:133 | Chronic beryllium disease | HP:0040282 - Frequent | | | 1 | | |
HP:0011893 | HP:0030373 | Abnormal proportion of memory B cells | 4 | HYOU1 CL E G H | 10525 | 16931 | OMIM:233600 | Immunodeficiency 59 and hypoglycemia | | | | | | |
HP:0011893 | HP:0030373 | Abnormal proportion of memory B cells | 4 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | | | | 32 | | |
HP:0011893 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 4 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | HP:0040283 - Occasional | | | 32 | | |
HP:0011893 | HP:0030252 | Absent circulating B cells | 4 | IGLL1 CL E G H | 3543 | 5870 | OMIM:613500 | Agammaglobulinemia 2, autosomal recessive | | | | 3 | | |
HP:0011893 | HP:0031393 | Abnormal proportion of CD8-positive T cells | 4 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0011893 | HP:0005415 | Decreased proportion of CD8-positive T cells | 4 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 4 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0011893 | HP:0030373 | Abnormal proportion of memory B cells | 4 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0011893 | HP:0030373 | Abnormal proportion of memory B cells | 4 | IL21 CL E G H | 59067 | 6005 | OMIM:615767 | IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11 | | | | 3 | | |
HP:0011893 | HP:0031394 | Abnormal CD4:CD8 ratio | 4 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0011893 | HP:0020111 | Abnormal CD4+CD25+ regulatory T cell proportion | 4 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0011893 | HP:0031394 | Abnormal CD4:CD8 ratio | 4 | IL2RB CL E G H | 3560 | 6009 | OMIM:618495 | Immunodeficiency 63 with lymphoproliferation and autoimmunity | | | | | | |
HP:0011893 | HP:0031393 | Abnormal proportion of CD8-positive T cells | 4 | IL2RG CL E G H | 3561 | 6010 | OMIM:312863 | Combined immunodeficiency, X-linked | | | | 48 | | |
HP:0011893 | HP:0005415 | Decreased proportion of CD8-positive T cells | 4 | IL2RG CL E G H | 3561 | 6010 | OMIM:312863 | Combined immunodeficiency, X-linked | . | | | 48 | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | IL2RG CL E G H | 3561 | 6010 | OMIM:312863 | Combined immunodeficiency, X-linked | | | | 48 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 4 | IL2RG CL E G H | 3561 | 6010 | OMIM:312863 | Combined immunodeficiency, X-linked | . | | | 48 | | |
HP:0011893 | HP:0031396 | Abnormal proportion of naive T cells | 4 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | | | | 48 | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | | | | 48 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 4 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | HP:0040281 - Very frequent | | | 48 | | |
HP:0011893 | HP:0045080 | Decreased proportion of CD3-positive T cells | 4 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | HP:0040282 - Frequent | | | 48 | | |
HP:0011893 | HP:0030373 | Abnormal proportion of memory B cells | 4 | IL6R CL E G H | 3570 | 6019 | OMIM:618944 | HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5 | | | | 1 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 4 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | HP:0040282 - Frequent | | | 94 | | |
HP:0011893 | HP:0005415 | Decreased proportion of CD8-positive T cells | 4 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | HP:0040282 - Frequent | | | 94 | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | | | | 94 | | |
HP:0011893 | HP:0045080 | Decreased proportion of CD3-positive T cells | 4 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | HP:0040282 - Frequent | | | 94 | | |
HP:0011893 | HP:0031393 | Abnormal proportion of CD8-positive T cells | 4 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | | | | 94 | | |
HP:0011893 | HP:0032061 | Hypereosinophilia | 4 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0011893 | HP:0410255 | Transient neutropenia | 4 | IRAK4 CL E G H | 51135 | 17967 | OMIM:607676 | Immunodeficiency 67 | | | | 58 | | |
HP:0011893 | HP:0030373 | Abnormal proportion of memory B cells | 4 | IRF2BP2 CL E G H | 359948 | 21729 | OMIM:617765 | IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14 | | | | 4 | | |
HP:0011893 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 4 | ITCH CL E G H | 83737 | 13890 | ORPHA:228426 | Syndromic multisystem autoimmune disease due to Itch deficiency | HP:0040283 - Occasional | | | 3 | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | ITK CL E G H | 3702 | 6171 | OMIM:613011 | LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1 | | | | 51 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 4 | ITK CL E G H | 3702 | 6171 | OMIM:613011 | LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1 | | | | 51 | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 4 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 4 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 1 | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | LAT CL E G H | 27040 | 18874 | OMIM:617514 | Immunodeficiency 52 | | | | 2 | | |
HP:0011893 | HP:0500269 | Abnormal proportion of gamma-delta T cells | 4 | LAT CL E G H | 27040 | 18874 | OMIM:617514 | Immunodeficiency 52 | | | | 2 | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | LCK CL E G H | 3932 | 6524 | OMIM:615758 | Immunodeficiency 22 | | | | 1 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 4 | LCK CL E G H | 3932 | 6524 | OMIM:615758 | Immunodeficiency 22 | . | | | 1 | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0011893 | HP:0030373 | Abnormal proportion of memory B cells | 4 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | | | | 47 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 4 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | HP:0040281 - Very frequent | | | 47 | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | | | | 46 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 4 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | HP:0040281 - Very frequent | | | 46 | | |
HP:0011893 | HP:0500269 | Abnormal proportion of gamma-delta T cells | 4 | LIG1 CL E G H | 3978 | 6598 | OMIM:619774 | IMMUNODEFICIENCY 96; IMD96 | | | | 9 | | |
HP:0011893 | HP:0410252 | Chronic neutropenia | 4 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0011893 | HP:0030373 | Abnormal proportion of memory B cells | 4 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0011893 | HP:0031394 | Abnormal CD4:CD8 ratio | 4 | MAGT1 CL E G H | 84061 | 28880 | OMIM:300853 | IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN | | | | 17 | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | MAGT1 CL E G H | 84061 | 28880 | OMIM:300853 | IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN | | | | 17 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 4 | MAGT1 CL E G H | 84061 | 28880 | OMIM:300853 | IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN | | | | 17 | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | MYC CL E G H | 4609 | 7553 | ORPHA:543 | Burkitt lymphoma | | | | 11 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 4 | MYC CL E G H | 4609 | 7553 | ORPHA:543 | Burkitt lymphoma | HP:0040283 - Occasional | | | 11 | | |
HP:0011893 | HP:0032182 | Abnormal proportion of memory T cells | 4 | NCKAP1L CL E G H | 3071 | 4862 | OMIM:618982 | IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72 | | | | | | |
HP:0011893 | HP:0005365 | Severe B lymphocytopenia | 4 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0011893 | HP:0032061 | Hypereosinophilia | 4 | NLRP1 CL E G H | 22861 | 14374 | OMIM:617388 | AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK | | | | 37 | | |
HP:0011893 | HP:0005415 | Decreased proportion of CD8-positive T cells | 4 | NSMCE3 CL E G H | 56160 | 7677 | OMIM:617241 | LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS | | | | 2 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 4 | NSMCE3 CL E G H | 56160 | 7677 | OMIM:617241 | LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS | | | | 2 | | |
HP:0011893 | HP:0031393 | Abnormal proportion of CD8-positive T cells | 4 | NSMCE3 CL E G H | 56160 | 7677 | OMIM:617241 | LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS | | | | 2 | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | NSMCE3 CL E G H | 56160 | 7677 | OMIM:617241 | LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS | | | | 2 | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | OTULIN CL E G H | 90268 | 25118 | OMIM:617099 | AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS | | | | 3 | | |
HP:0011893 | HP:0045080 | Decreased proportion of CD3-positive T cells | 4 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040282 - Frequent | | | 15 | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | | | | 15 | | |
HP:0011893 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 4 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040283 - Occasional | | | 15 | | |
HP:0011893 | HP:0031393 | Abnormal proportion of CD8-positive T cells | 4 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040283 - Occasional | | | 15 | | |
HP:0011893 | HP:0031394 | Abnormal CD4:CD8 ratio | 4 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040283 - Occasional | | | 15 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 4 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040281 - Very frequent | | | 15 | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 4 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 9 | | |
HP:0011893 | HP:0030373 | Abnormal proportion of memory B cells | 4 | PIK3CD CL E G H | 5293 | 8977 | OMIM:615513 | IMMUNODEFICIENCY 14; IMD14 | | | | 9 | | |
HP:0011893 | HP:0030379 | Abnormal proportion of transitional B cells | 4 | PIK3CD CL E G H | 5293 | 8977 | OMIM:615513 | IMMUNODEFICIENCY 14; IMD14 | | | | 9 | | |
HP:0011893 | HP:0005415 | Decreased proportion of CD8-positive T cells | 4 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0011893 | HP:0020111 | Abnormal CD4+CD25+ regulatory T cell proportion | 4 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0011893 | HP:0032182 | Abnormal proportion of memory T cells | 4 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0011893 | HP:0031399 | Abnormal proportion of double-negative alpha-beta regulatory T cell | 4 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0011893 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 4 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0011893 | HP:0031393 | Abnormal proportion of CD8-positive T cells | 4 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0011893 | HP:0030379 | Abnormal proportion of transitional B cells | 4 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | | | | 43 | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | | | | 43 | | |
HP:0011893 | HP:0031396 | Abnormal proportion of naive T cells | 4 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | | | | 43 | | |
HP:0011893 | HP:0030373 | Abnormal proportion of memory B cells | 4 | PLCG2 CL E G H | 5336 | 9066 | OMIM:614878 | Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated | | | | 21 | | |
HP:0011893 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 4 | PNP CL E G H | 4860 | 7892 | OMIM:613179 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | . | | | 52 | | |
HP:0011893 | HP:0045080 | Decreased proportion of CD3-positive T cells | 4 | PNP CL E G H | 4860 | 7892 | ORPHA:760 | Purine nucleoside phosphorylase deficiency | HP:0040283 - Occasional | | | 52 | | |
HP:0011893 | HP:0030373 | Abnormal proportion of memory B cells | 4 | POMP CL E G H | 51371 | 20330 | OMIM:618048 | Proteasome-Associated autoinflammatory syndrome 2 | | | | 2 | | |
HP:0011893 | HP:0031394 | Abnormal CD4:CD8 ratio | 4 | POMP CL E G H | 51371 | 20330 | OMIM:618048 | Proteasome-Associated autoinflammatory syndrome 2 | | | | 2 | | |
HP:0011893 | HP:0410252 | Chronic neutropenia | 4 | PPIL1 CL E G H | 51645 | 9260 | OMIM:619301 | PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14 | | | | | | |
HP:0011893 | HP:0005365 | Severe B lymphocytopenia | 4 | PRIM1 CL E G H | 5557 | 9369 | OMIM:620005 | | | | | | | |
HP:0011893 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 4 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0011893 | HP:0031393 | Abnormal proportion of CD8-positive T cells | 4 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 4 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0011893 | HP:0031399 | Abnormal proportion of double-negative alpha-beta regulatory T cell | 4 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 10 | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0011893 | HP:0033207 | Increased proportion autoreactive unresponsive CD21-/low B cells | 4 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0011893 | HP:0030373 | Abnormal proportion of memory B cells | 4 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0011893 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 4 | RAG1 CL E G H | 5896 | 9831 | ORPHA:231154 | Combined immunodeficiency due to partial RAG1 deficiency | HP:0040282 - Frequent | | | 127 | | |
HP:0011893 | HP:0005365 | Severe B lymphocytopenia | 4 | RAG1 CL E G H | 5896 | 9831 | OMIM:603554 | Omenn syndrome | . | | | 127 | | |
HP:0011893 | HP:0045080 | Decreased proportion of CD3-positive T cells | 4 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040282 - Frequent | | | 127 | | |
HP:0011893 | HP:0005365 | Severe B lymphocytopenia | 4 | RAG2 CL E G H | 5897 | 9832 | OMIM:603554 | Omenn syndrome | . | | | 50 | | |
HP:0011893 | HP:0045080 | Decreased proportion of CD3-positive T cells | 4 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040282 - Frequent | | | 50 | | |
HP:0011893 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 4 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | | | |
HP:0011893 | HP:0031393 | Abnormal proportion of CD8-positive T cells | 4 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 4 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | | | |
HP:0011893 | HP:0031399 | Abnormal proportion of double-negative alpha-beta regulatory T cell | 4 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | | | |
HP:0011893 | HP:0031394 | Abnormal CD4:CD8 ratio | 4 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0011893 | HP:0033207 | Increased proportion autoreactive unresponsive CD21-/low B cells | 4 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0011893 | HP:0030373 | Abnormal proportion of memory B cells | 4 | REL CL E G H | 5966 | 9954 | OMIM:619652 | IMMUNODEFICIENCY 92; IMD92 | | | | 1 | | |
HP:0011893 | HP:0031394 | Abnormal CD4:CD8 ratio | 4 | RFX5 CL E G H | 5993 | 9986 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040283 - Occasional | | | 38 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 4 | RFX5 CL E G H | 5993 | 9986 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040282 - Frequent | | | 38 | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | RFX5 CL E G H | 5993 | 9986 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 38 | | |
HP:0011893 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 4 | RFX5 CL E G H | 5993 | 9986 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040283 - Occasional | | | 38 | | |
HP:0011893 | HP:0031394 | Abnormal CD4:CD8 ratio | 4 | RFXANK CL E G H | 8625 | 9987 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040283 - Occasional | | | 26 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 4 | RFXANK CL E G H | 8625 | 9987 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040282 - Frequent | | | 26 | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | RFXANK CL E G H | 8625 | 9987 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 26 | | |
HP:0011893 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 4 | RFXANK CL E G H | 8625 | 9987 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040283 - Occasional | | | 26 | | |
HP:0011893 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 4 | RFXAP CL E G H | 5994 | 9988 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040283 - Occasional | | | 34 | | |
HP:0011893 | HP:0031394 | Abnormal CD4:CD8 ratio | 4 | RFXAP CL E G H | 5994 | 9988 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040283 - Occasional | | | 34 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 4 | RFXAP CL E G H | 5994 | 9988 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040282 - Frequent | | | 34 | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | RFXAP CL E G H | 5994 | 9988 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 34 | | |
HP:0011893 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 4 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0011893 | HP:0031393 | Abnormal proportion of CD8-positive T cells | 4 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 4 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0011893 | HP:0031396 | Abnormal proportion of naive T cells | 4 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0011893 | HP:0032182 | Abnormal proportion of memory T cells | 4 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0011893 | HP:0410252 | Chronic neutropenia | 4 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | 26 | | |
HP:0011893 | HP:0410255 | Transient neutropenia | 4 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | 26 | | |
HP:0011893 | HP:0410252 | Chronic neutropenia | 4 | SLC37A4 CL E G H | 2542 | 4061 | ORPHA:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | HP:0040282 - Frequent | | | 110 | | |
HP:0011893 | HP:0040289 | Cyclic neutropenia | 4 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232240 | GLYCOGEN STORAGE DISEASE Ic | | | | 110 | | |
HP:0011893 | HP:0030252 | Absent circulating B cells | 4 | SLC39A7 CL E G H | 7922 | 4927 | OMIM:619693 | AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9 | | | | | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | | | | 74 | | |
HP:0011893 | HP:0031396 | Abnormal proportion of naive T cells | 4 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | | | | 74 | | |
HP:0011893 | HP:0030373 | Abnormal proportion of memory B cells | 4 | SOCS1 CL E G H | 8651 | 19383 | OMIM:619375 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD | | | | 6 | | |
HP:0011893 | HP:0030373 | Abnormal proportion of memory B cells | 4 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | | | | 49 | | |
HP:0011893 | HP:0410255 | Transient neutropenia | 4 | SPI1 CL E G H | 6688 | 11241 | OMIM:619707 | AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10 | | | | | | |
HP:0011893 | HP:0030252 | Absent circulating B cells | 4 | SPI1 CL E G H | 6688 | 11241 | OMIM:619707 | AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10 | | | | | | |
HP:0011893 | HP:0032061 | Hypereosinophilia | 4 | SPINK5 CL E G H | 11005 | 15464 | OMIM:256500 | Netherton syndrome | . | | | 100 | | |
HP:0011893 | HP:0410255 | Transient neutropenia | 4 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | | | |
HP:0011893 | HP:0410252 | Chronic neutropenia | 4 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | | | |
HP:0011893 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 4 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040283 - Occasional | | | 89 | | |
HP:0011893 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 4 | STAT3 CL E G H | 6774 | 11364 | OMIM:615952 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1 | | | | 110 | | |
HP:0011893 | HP:0031396 | Abnormal proportion of naive T cells | 4 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0011893 | HP:0040289 | Cyclic neutropenia | 4 | TAFAZZIN CL E G H | 6901 | 11577 | OMIM:302060 | Barth syndrome | | | | | | |
HP:0011893 | HP:0032182 | Abnormal proportion of memory T cells | 4 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0011893 | HP:0031393 | Abnormal proportion of CD8-positive T cells | 4 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0011893 | HP:0030373 | Abnormal proportion of memory B cells | 4 | TET2 CL E G H | 54790 | 25941 | OMIM:619126 | IMMUNODEFICIENCY 75; IMD75 | | | | 3 | | |
HP:0011893 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 4 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040283 - Occasional | | | | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | TOM1 CL E G H | 10043 | 11982 | OMIM:619510 | IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85 | | | | | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 4 | TOM1 CL E G H | 10043 | 11982 | OMIM:619510 | IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85 | | | | | | |
HP:0011893 | HP:0030373 | Abnormal proportion of memory B cells | 4 | TOM1 CL E G H | 10043 | 11982 | OMIM:619510 | IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85 | | | | | | |
HP:0011893 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 4 | TPP2 CL E G H | 7174 | 12016 | OMIM:619220 | IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78 | | | | | | |
HP:0011893 | HP:0032061 | Hypereosinophilia | 4 | TRAC CL E G H | 28755 | 12029 | OMIM:615387 | T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY | . | | | 1 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 4 | UNC119 CL E G H | 9094 | 12565 | OMIM:615518 | IMMUNODEFICIENCY 13; IMD13 | | | | 30 | | |
HP:0011893 | HP:0031394 | Abnormal CD4:CD8 ratio | 4 | UNC119 CL E G H | 9094 | 12565 | OMIM:615518 | IMMUNODEFICIENCY 13; IMD13 | | | | 30 | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | UNC119 CL E G H | 9094 | 12565 | OMIM:615518 | IMMUNODEFICIENCY 13; IMD13 | | | | 30 | | |
HP:0011893 | HP:0031394 | Abnormal CD4:CD8 ratio | 4 | WAS CL E G H | 7454 | 12731 | OMIM:300299 | Neutropenia, severe congenital, X-linked | | | | 65 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 4 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0011893 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0011893 | HP:0031393 | Abnormal proportion of CD8-positive T cells | 4 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0011893 | HP:0005415 | Decreased proportion of CD8-positive T cells | 4 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0011893 | HP:0031394 | Abnormal CD4:CD8 ratio | 4 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |
HP:0011893 | HP:0005415 | Decreased proportion of CD8-positive T cells | 4 | WIPF1 CL E G H | 7456 | 12736 | OMIM:614493 | WISKOTT-ALDRICH SYNDROME 2; WAS2 | | | | 6 | | |
HP:0011893 | HP:0031393 | Abnormal proportion of CD8-positive T cells | 4 | WIPF1 CL E G H | 7456 | 12736 | OMIM:614493 | WISKOTT-ALDRICH SYNDROME 2; WAS2 | | | | 6 | | |
HP:0011893 | HP:0031394 | Abnormal CD4:CD8 ratio | 4 | ZAP70 CL E G H | 7535 | 12858 | OMIM:617006 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2 | | | | 46 | | |
HP:0011893 | HP:0005415 | Decreased proportion of CD8-positive T cells | 4 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | HP:0040282 - Frequent | | | 46 | | |
HP:0011893 | HP:0031393 | Abnormal proportion of CD8-positive T cells | 4 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | | | | 46 | | |
HP:0011893 | HP:0031393 | Abnormal proportion of CD8-positive T cells | 4 | ZAP70 CL E G H | 7535 | 12858 | OMIM:269840 | SELECTIVE T-CELL DEFECT | | | | 46 | | |
HP:0011893 | HP:0005415 | Decreased proportion of CD8-positive T cells | 4 | ZAP70 CL E G H | 7535 | 12858 | OMIM:269840 | SELECTIVE T-CELL DEFECT | | | | 46 | | |
HP:0011893 | HP:0030371 | Increased proportion of naive B cells | 5 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0030380 | Decreased proportion of transitional B cells | 5 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0500271 | Decreased proportion of gamma-delta T cells | 5 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0030378 | Decreased proportion of immature B cells | 5 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0020112 | Increased proportion of CD4+CD25+ regulatory T cells | 5 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0500264 | Increased helper T cell proportion | 5 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0032124 | Abnormal proportion of unswitched memory B cells | 5 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0410374 | Abnormal proportion of naive CD8 T cells | 5 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0030377 | Increased proportion of immature B cells | 5 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0031514 | Increased proportion of exhausted T cells | 5 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0032129 | Decreased proportion of plasmablasts | 5 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0500274 | Decreased proportion of immature gamma-delta T cells | 5 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0031398 | Increased proportion of naive T cells | 5 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0032128 | Increased proportion of plasmablasts | 5 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0030375 | Increased proportion of memory B cells | 5 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 5 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0025623 | Abnormal proportion of CD4+ effector memory cells | 5 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0500273 | Increased proportion of immature gamma-delta T cells | 5 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0410379 | Abnormal proportion of CD4-positive, alpha-beta memory T cells | 5 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0030372 | Decreased proportion of naive B cells | 5 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0033222 | Decreased CD4:CD8 ratio | 5 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0011893 | HP:0030381 | Increased proportion of transitional B cells | 5 | ARHGEF1 CL E G H | 9138 | 681 | OMIM:618459 | Immunodeficiency 62 | | | | | | |
HP:0011893 | HP:0030374 | Decreased proportion of memory B cells | 5 | ARHGEF1 CL E G H | 9138 | 681 | OMIM:618459 | Immunodeficiency 62 | | | | | | |
HP:0011893 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | | | | 3267 | | |
HP:0011893 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | | | | 3267 | | |
HP:0011893 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:301045 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R | | | | 36 | | |
HP:0011893 | HP:0030374 | Decreased proportion of memory B cells | 5 | BACH2 CL E G H | 60468 | 14078 | OMIM:618394 | IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60 | | | | | | |
HP:0011893 | HP:0032183 | Decreased proportion of memory T cells | 5 | BCL10 CL E G H | 8915 | 989 | OMIM:616098 | IMMUNODEFICIENCY 37; IMD37 | | | | 18 | | |
HP:0011893 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | HP:0040282 - Frequent | | | 314 | | |
HP:0011893 | HP:0020113 | Decreased proportion of CD4+CD25+ regulatory T cells | 5 | CARD11 CL E G H | 84433 | 16393 | OMIM:615206 | Card11 immunodeficiency | | | | 45 | | |
HP:0011893 | HP:0002851 | Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells | 5 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 87 | | |
HP:0011893 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 87 | | |
HP:0011893 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 87 | | |
HP:0011893 | HP:0002851 | Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells | 5 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | | | | 87 | | |
HP:0011893 | HP:0033222 | Decreased CD4:CD8 ratio | 5 | CASP8 CL E G H | 841 | 1509 | OMIM:607271 | CASPASE 8 DEFICIENCY | | | | 37 | | |
HP:0011893 | HP:0030374 | Decreased proportion of memory B cells | 5 | CD19 CL E G H | 930 | 1633 | OMIM:613493 | IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3 | | | | 38 | | |
HP:0011893 | HP:0030386 | Abnormal proportion of class-switched memory B cells | 5 | CD19 CL E G H | 930 | 1633 | OMIM:613493 | IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3 | | | | 38 | | |
HP:0011893 | HP:0005415 | Decreased proportion of CD8-positive T cells | 5 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | . | | | 19 | | |
HP:0011893 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | CD4 CL E G H | 920 | 1678 | OMIM:619238 | IMMUNODEFICIENCY 79; IMD79 | | | | 1 | | |
HP:0011893 | HP:0005422 | Absence of CD8-positive T cells | 5 | CD8A CL E G H | 925 | 1706 | OMIM:608957 | Cd8 deficiency, familial | . | | | 4 | | |
HP:0011893 | HP:0005415 | Decreased proportion of CD8-positive T cells | 5 | CD8A CL E G H | 925 | 1706 | OMIM:608957 | Cd8 deficiency, familial | | | | 4 | | |
HP:0011893 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | CIITA CL E G H | 4261 | 7067 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 118 | | |
HP:0011893 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | CIITA CL E G H | 4261 | 7067 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 118 | | |
HP:0011893 | HP:0410256 | Infection associated neutropenia | 5 | CLPB CL E G H | 81570 | 30664 | ORPHA:445038 | 3-methylglutaconic aciduria type 7 | HP:0040282 - Frequent | | | 38 | | |
HP:0011893 | HP:0020113 | Decreased proportion of CD4+CD25+ regulatory T cells | 5 | CTNNBL1 CL E G H | 56259 | 15879 | OMIM:619846 | | | | | | | |
HP:0011893 | HP:0030374 | Decreased proportion of memory B cells | 5 | CTNNBL1 CL E G H | 56259 | 15879 | OMIM:619846 | | | | | | | |
HP:0011893 | HP:0030386 | Abnormal proportion of class-switched memory B cells | 5 | CTNNBL1 CL E G H | 56259 | 15879 | OMIM:619846 | | | | | | | |
HP:0011893 | HP:0030374 | Decreased proportion of memory B cells | 5 | CTPS1 CL E G H | 1503 | 2519 | OMIM:615897 | IMMUNODEFICIENCY 24; IMD24 | | | | 2 | | |
HP:0011893 | HP:0033222 | Decreased CD4:CD8 ratio | 5 | CTPS1 CL E G H | 1503 | 2519 | OMIM:615897 | IMMUNODEFICIENCY 24; IMD24 | | | | 2 | | |
HP:0011893 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0011893 | HP:0033222 | Decreased CD4:CD8 ratio | 5 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0011893 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | | | | 217 | | |
HP:0011893 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | | | | 217 | | |
HP:0011893 | HP:0030374 | Decreased proportion of memory B cells | 5 | ELF4 CL E G H | 2000 | 3319 | OMIM:301074 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2 | | | | 1 | | |
HP:0011893 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0011893 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0011893 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | | | | 3 | | |
HP:0011893 | HP:0005415 | Decreased proportion of CD8-positive T cells | 5 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0011893 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | | | | 3 | | |
HP:0011893 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0011893 | HP:0002851 | Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells | 5 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 59 | | |
HP:0011893 | HP:0002851 | Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells | 5 | FAS CL E G H | 355 | 11920 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | . | | | 59 | | |
HP:0011893 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0011893 | HP:0002851 | Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells | 5 | FASLG CL E G H | 356 | 11936 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | . | | | 37 | | |
HP:0011893 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0011893 | HP:0002851 | Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells | 5 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0011893 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0011893 | HP:0030374 | Decreased proportion of memory B cells | 5 | FNIP1 CL E G H | 96459 | 29418 | OMIM:619705 | IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93 | | | | 1 | | |
HP:0011893 | HP:0030386 | Abnormal proportion of class-switched memory B cells | 5 | FNIP1 CL E G H | 96459 | 29418 | OMIM:619705 | IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93 | | | | 1 | | |
HP:0011893 | HP:0008165 | Decreased helper T cell proportion | 5 | FOXN1 CL E G H | 8456 | 12765 | OMIM:601705 | T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY | . | | | 54 | | |
HP:0011893 | HP:0031401 | Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells | 5 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | HP:0040282 - Frequent | | | 32 | | |
HP:0011893 | HP:0033222 | Decreased CD4:CD8 ratio | 5 | GATA2 CL E G H | 2624 | 4171 | OMIM:614038 | Lymphedema, primary, with myelodysplasia | | | | 137 | | |
HP:0011893 | HP:0030374 | Decreased proportion of memory B cells | 5 | HYOU1 CL E G H | 10525 | 16931 | OMIM:233600 | Immunodeficiency 59 and hypoglycemia | | | | | | |
HP:0011893 | HP:0030386 | Abnormal proportion of class-switched memory B cells | 5 | HYOU1 CL E G H | 10525 | 16931 | OMIM:233600 | Immunodeficiency 59 and hypoglycemia | | | | | | |
HP:0011893 | HP:0030386 | Abnormal proportion of class-switched memory B cells | 5 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | | | | 32 | | |
HP:0011893 | HP:0030374 | Decreased proportion of memory B cells | 5 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | | | | 32 | | |
HP:0011893 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0011893 | HP:0005415 | Decreased proportion of CD8-positive T cells | 5 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0011893 | HP:0030374 | Decreased proportion of memory B cells | 5 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0011893 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0011893 | HP:0030386 | Abnormal proportion of class-switched memory B cells | 5 | IL21 CL E G H | 59067 | 6005 | OMIM:615767 | IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11 | | | | 3 | | |
HP:0011893 | HP:0030374 | Decreased proportion of memory B cells | 5 | IL21 CL E G H | 59067 | 6005 | OMIM:615767 | IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11 | | | | 3 | | |
HP:0011893 | HP:0020113 | Decreased proportion of CD4+CD25+ regulatory T cells | 5 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0011893 | HP:0033222 | Decreased CD4:CD8 ratio | 5 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0011893 | HP:0033222 | Decreased CD4:CD8 ratio | 5 | IL2RB CL E G H | 3560 | 6009 | OMIM:618495 | Immunodeficiency 63 with lymphoproliferation and autoimmunity | | | | | | |
HP:0011893 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | IL2RG CL E G H | 3561 | 6010 | OMIM:312863 | Combined immunodeficiency, X-linked | | | | 48 | | |
HP:0011893 | HP:0005415 | Decreased proportion of CD8-positive T cells | 5 | IL2RG CL E G H | 3561 | 6010 | OMIM:312863 | Combined immunodeficiency, X-linked | . | | | 48 | | |
HP:0011893 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | IL2RG CL E G H | 3561 | 6010 | OMIM:312863 | Combined immunodeficiency, X-linked | | | | 48 | | |
HP:0011893 | HP:0031397 | Decreased proportion of naive T cells | 5 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | HP:0040281 - Very frequent | | | 48 | | |
HP:0011893 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | | | | 48 | | |
HP:0011893 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | | | | 48 | | |
HP:0011893 | HP:0030374 | Decreased proportion of memory B cells | 5 | IL6R CL E G H | 3570 | 6019 | OMIM:618944 | HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5 | | | | 1 | | |
HP:0011893 | HP:0030386 | Abnormal proportion of class-switched memory B cells | 5 | IL6R CL E G H | 3570 | 6019 | OMIM:618944 | HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5 | | | | 1 | | |
HP:0011893 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | | | | 94 | | |
HP:0011893 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | | | | 94 | | |
HP:0011893 | HP:0005415 | Decreased proportion of CD8-positive T cells | 5 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | HP:0040282 - Frequent | | | 94 | | |
HP:0011893 | HP:0030386 | Abnormal proportion of class-switched memory B cells | 5 | IRF2BP2 CL E G H | 359948 | 21729 | OMIM:617765 | IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14 | | | | 4 | | |
HP:0011893 | HP:0030374 | Decreased proportion of memory B cells | 5 | IRF2BP2 CL E G H | 359948 | 21729 | OMIM:617765 | IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14 | | | | 4 | | |
HP:0011893 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | ITK CL E G H | 3702 | 6171 | OMIM:613011 | LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1 | | | | 51 | | |
HP:0011893 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | ITK CL E G H | 3702 | 6171 | OMIM:613011 | LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1 | | | | 51 | | |
HP:0011893 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0011893 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0011893 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0011893 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0011893 | HP:0500270 | Increased proportion of gamma-delta T cells | 5 | LAT CL E G H | 27040 | 18874 | OMIM:617514 | Immunodeficiency 52 | | | | 2 | | |
HP:0011893 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | LAT CL E G H | 27040 | 18874 | OMIM:617514 | Immunodeficiency 52 | | | | 2 | | |
HP:0011893 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | LCK CL E G H | 3932 | 6524 | OMIM:615758 | Immunodeficiency 22 | | | | 1 | | |
HP:0011893 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | LCK CL E G H | 3932 | 6524 | OMIM:615758 | Immunodeficiency 22 | | | | 1 | | |
HP:0011893 | HP:0030386 | Abnormal proportion of class-switched memory B cells | 5 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0011893 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0011893 | HP:0030374 | Decreased proportion of memory B cells | 5 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0011893 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | | | | 47 | | |
HP:0011893 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | | | | 47 | | |
HP:0011893 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | | | | 46 | | |
HP:0011893 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | | | | 46 | | |
HP:0011893 | HP:0500270 | Increased proportion of gamma-delta T cells | 5 | LIG1 CL E G H | 3978 | 6598 | OMIM:619774 | IMMUNODEFICIENCY 96; IMD96 | | | | 9 | | |
HP:0011893 | HP:0030386 | Abnormal proportion of class-switched memory B cells | 5 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0011893 | HP:0030374 | Decreased proportion of memory B cells | 5 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0011893 | HP:0033222 | Decreased CD4:CD8 ratio | 5 | MAGT1 CL E G H | 84061 | 28880 | OMIM:300853 | IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN | | | | 17 | | |
HP:0011893 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | MAGT1 CL E G H | 84061 | 28880 | OMIM:300853 | IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN | | | | 17 | | |
HP:0011893 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | MAGT1 CL E G H | 84061 | 28880 | OMIM:300853 | IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN | | | | 17 | | |
HP:0011893 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | MYC CL E G H | 4609 | 7553 | ORPHA:543 | Burkitt lymphoma | | | | 11 | | |
HP:0011893 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | MYC CL E G H | 4609 | 7553 | ORPHA:543 | Burkitt lymphoma | | | | 11 | | |
HP:0011893 | HP:0032184 | Increased proportion of memory T cells | 5 | NCKAP1L CL E G H | 3071 | 4862 | OMIM:618982 | IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72 | | | | | | |
HP:0011893 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | NSMCE3 CL E G H | 56160 | 7677 | OMIM:617241 | LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS | | | | 2 | | |
HP:0011893 | HP:0005415 | Decreased proportion of CD8-positive T cells | 5 | NSMCE3 CL E G H | 56160 | 7677 | OMIM:617241 | LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS | | | | 2 | | |
HP:0011893 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | NSMCE3 CL E G H | 56160 | 7677 | OMIM:617241 | LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS | | | | 2 | | |
HP:0011893 | HP:0032219 | Increased proportion of CD4-positive T cells | 5 | OTULIN CL E G H | 90268 | 25118 | OMIM:617099 | AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS | | | | 3 | | |
HP:0011893 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | | | | 15 | | |
HP:0011893 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | | | | 15 | | |
HP:0011893 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0011893 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0011893 | HP:0030374 | Decreased proportion of memory B cells | 5 | PIK3CD CL E G H | 5293 | 8977 | OMIM:615513 | IMMUNODEFICIENCY 14; IMD14 | | | | 9 | | |
HP:0011893 | HP:0030386 | Abnormal proportion of class-switched memory B cells | 5 | PIK3CD CL E G H | 5293 | 8977 | OMIM:615513 | IMMUNODEFICIENCY 14; IMD14 | | | | 9 | | |
HP:0011893 | HP:0030381 | Increased proportion of transitional B cells | 5 | PIK3CD CL E G H | 5293 | 8977 | OMIM:615513 | IMMUNODEFICIENCY 14; IMD14 | | | | 9 | | |
HP:0011893 | HP:0005415 | Decreased proportion of CD8-positive T cells | 5 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0011893 | HP:0002851 | Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells | 5 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0011893 | HP:0410380 | Abnormal proportion of CD8-positive, alpha-beta memory T cells | 5 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0011893 | HP:0020113 | Decreased proportion of CD4+CD25+ regulatory T cells | 5 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0011893 | HP:0032183 | Decreased proportion of memory T cells | 5 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0011893 | HP:0410373 | Abnormal proportion of naive CD4 T cells | 5 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | | | | 43 | | |
HP:0011893 | HP:0031397 | Decreased proportion of naive T cells | 5 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | | | | 43 | | |
HP:0011893 | HP:0030381 | Increased proportion of transitional B cells | 5 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | | | | 43 | | |
HP:0011893 | HP:0030374 | Decreased proportion of memory B cells | 5 | PLCG2 CL E G H | 5336 | 9066 | OMIM:614878 | Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated | | | | 21 | | |
HP:0011893 | HP:0030386 | Abnormal proportion of class-switched memory B cells | 5 | PLCG2 CL E G H | 5336 | 9066 | OMIM:614878 | Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated | | | | 21 | | |
HP:0011893 | HP:0033221 | Increased CD4:CD8 ratio | 5 | POMP CL E G H | 51371 | 20330 | OMIM:618048 | Proteasome-Associated autoinflammatory syndrome 2 | | | | 2 | | |
HP:0011893 | HP:0030374 | Decreased proportion of memory B cells | 5 | POMP CL E G H | 51371 | 20330 | OMIM:618048 | Proteasome-Associated autoinflammatory syndrome 2 | | | | 2 | | |
HP:0011893 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 10 | | |
HP:0011893 | HP:0002851 | Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells | 5 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0011893 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 10 | | |
HP:0011893 | HP:0030386 | Abnormal proportion of class-switched memory B cells | 5 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0011893 | HP:0030374 | Decreased proportion of memory B cells | 5 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0011893 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | | | |
HP:0011893 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | | | |
HP:0011893 | HP:0002851 | Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells | 5 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | | | |
HP:0011893 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0011893 | HP:0030374 | Decreased proportion of memory B cells | 5 | REL CL E G H | 5966 | 9954 | OMIM:619652 | IMMUNODEFICIENCY 92; IMD92 | | | | 1 | | |
HP:0011893 | HP:0030386 | Abnormal proportion of class-switched memory B cells | 5 | REL CL E G H | 5966 | 9954 | OMIM:619652 | IMMUNODEFICIENCY 92; IMD92 | | | | 1 | | |
HP:0011893 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | RFX5 CL E G H | 5993 | 9986 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 38 | | |
HP:0011893 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | RFX5 CL E G H | 5993 | 9986 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 38 | | |
HP:0011893 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | RFXANK CL E G H | 8625 | 9987 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 26 | | |
HP:0011893 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | RFXANK CL E G H | 8625 | 9987 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 26 | | |
HP:0011893 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | RFXAP CL E G H | 5994 | 9988 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 34 | | |
HP:0011893 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | RFXAP CL E G H | 5994 | 9988 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 34 | | |
HP:0011893 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0011893 | HP:0410373 | Abnormal proportion of naive CD4 T cells | 5 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0011893 | HP:0032184 | Increased proportion of memory T cells | 5 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0011893 | HP:0031397 | Decreased proportion of naive T cells | 5 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0011893 | HP:0410380 | Abnormal proportion of CD8-positive, alpha-beta memory T cells | 5 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0011893 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0011893 | HP:0410373 | Abnormal proportion of naive CD4 T cells | 5 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | HP:0040282 - Frequent | | | 74 | | |
HP:0011893 | HP:0031397 | Decreased proportion of naive T cells | 5 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | | | | 74 | | |
HP:0011893 | HP:0030386 | Abnormal proportion of class-switched memory B cells | 5 | SOCS1 CL E G H | 8651 | 19383 | OMIM:619375 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD | | | | 6 | | |
HP:0011893 | HP:0030383 | Abnormal proportion of marginal zone B cells | 5 | SOCS1 CL E G H | 8651 | 19383 | OMIM:619375 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD | | | | 6 | | |
HP:0011893 | HP:0030374 | Decreased proportion of memory B cells | 5 | SOCS1 CL E G H | 8651 | 19383 | OMIM:619375 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD | | | | 6 | | |
HP:0011893 | HP:0030374 | Decreased proportion of memory B cells | 5 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | HP:0040282 - Frequent | | | 49 | | |
HP:0011893 | HP:0031397 | Decreased proportion of naive T cells | 5 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0011893 | HP:0032183 | Decreased proportion of memory T cells | 5 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0011893 | HP:0032184 | Increased proportion of memory T cells | 5 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0011893 | HP:0410380 | Abnormal proportion of CD8-positive, alpha-beta memory T cells | 5 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0011893 | HP:0030386 | Abnormal proportion of class-switched memory B cells | 5 | TET2 CL E G H | 54790 | 25941 | OMIM:619126 | IMMUNODEFICIENCY 75; IMD75 | | | | 3 | | |
HP:0011893 | HP:0030374 | Decreased proportion of memory B cells | 5 | TET2 CL E G H | 54790 | 25941 | OMIM:619126 | IMMUNODEFICIENCY 75; IMD75 | | | | 3 | | |
HP:0011893 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | TOM1 CL E G H | 10043 | 11982 | OMIM:619510 | IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85 | | | | | | |
HP:0011893 | HP:0030374 | Decreased proportion of memory B cells | 5 | TOM1 CL E G H | 10043 | 11982 | OMIM:619510 | IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85 | | | | | | |
HP:0011893 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | TOM1 CL E G H | 10043 | 11982 | OMIM:619510 | IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85 | | | | | | |
HP:0011893 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | UNC119 CL E G H | 9094 | 12565 | OMIM:615518 | IMMUNODEFICIENCY 13; IMD13 | | | | 30 | | |
HP:0011893 | HP:0033222 | Decreased CD4:CD8 ratio | 5 | UNC119 CL E G H | 9094 | 12565 | OMIM:615518 | IMMUNODEFICIENCY 13; IMD13 | | | | 30 | | |
HP:0011893 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | UNC119 CL E G H | 9094 | 12565 | OMIM:615518 | IMMUNODEFICIENCY 13; IMD13 | | | | 30 | | |
HP:0011893 | HP:0033222 | Decreased CD4:CD8 ratio | 5 | WAS CL E G H | 7454 | 12731 | OMIM:300299 | Neutropenia, severe congenital, X-linked | | | | 65 | | |
HP:0011893 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0011893 | HP:0005415 | Decreased proportion of CD8-positive T cells | 5 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0011893 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0011893 | HP:0005415 | Decreased proportion of CD8-positive T cells | 5 | WIPF1 CL E G H | 7456 | 12736 | OMIM:614493 | WISKOTT-ALDRICH SYNDROME 2; WAS2 | | | | 6 | | |
HP:0011893 | HP:0033221 | Increased CD4:CD8 ratio | 5 | ZAP70 CL E G H | 7535 | 12858 | OMIM:617006 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2 | | | | 46 | | |
HP:0011893 | HP:0005422 | Absence of CD8-positive T cells | 5 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | HP:0040282 - Frequent | | | 46 | | |
HP:0011893 | HP:0005415 | Decreased proportion of CD8-positive T cells | 5 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | HP:0040282 - Frequent | | | 46 | | |
HP:0011893 | HP:0005415 | Decreased proportion of CD8-positive T cells | 5 | ZAP70 CL E G H | 7535 | 12858 | OMIM:269840 | SELECTIVE T-CELL DEFECT | | | | 46 | | |
HP:0011893 | HP:0005422 | Absence of CD8-positive T cells | 5 | ZAP70 CL E G H | 7535 | 12858 | OMIM:269840 | SELECTIVE T-CELL DEFECT | | | | 46 | | |
HP:0011893 | HP:0025620 | Abnormal proportion of CD4+ central memory cells | 6 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0032126 | Decreased proportion of unswitched memory B cells | 6 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0410376 | Increased proportion of naive CD8 T cells | 6 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0032125 | Increased proportion of unswitched memory B cells | 6 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0410375 | Increased proportion of naive CD4 T cells | 6 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0500274 | Decreased proportion of immature gamma-delta T cells | 6 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0410384 | Abnormal proportion of central memory CD8-positive, alpha-beta T cells | 6 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0025625 | Elevated proportion of CD4+ effector memory T cells | 6 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0410383 | Abnormal proportion of effector memory CD8-positive, alpha-beta T cells | 6 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0025624 | Reduced proportion of CD4+ effector memory T cells | 6 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0500273 | Increased proportion of immature gamma-delta T cells | 6 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0410381 | Abnormal proportion of central memory CD4-positive, alpha-beta T cells | 6 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0030387 | Increased proportion of class-switched memory B cells | 6 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0410391 | Increased proportion of CD4-positive, alpha-beta memory T cells | 6 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0030385 | Increased proportion of marginal zone B cells | 6 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 6 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | . | | | 3267 | | |
HP:0011893 | HP:0410386 | Decreased proportion of CD4-positive, alpha-beta memory T cells | 6 | BCL10 CL E G H | 8915 | 989 | OMIM:616098 | IMMUNODEFICIENCY 37; IMD37 | | | | 18 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 6 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0011893 | HP:0030388 | Decreased proportion of class-switched memory B cells | 6 | CD19 CL E G H | 930 | 1633 | OMIM:613493 | IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3 | | | | 38 | | |
HP:0011893 | HP:0005422 | Absence of CD8-positive T cells | 6 | CD8A CL E G H | 925 | 1706 | OMIM:608957 | Cd8 deficiency, familial | . | | | 4 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 6 | CIITA CL E G H | 4261 | 7067 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040282 - Frequent | | | 118 | | |
HP:0011893 | HP:0030388 | Decreased proportion of class-switched memory B cells | 6 | CTNNBL1 CL E G H | 56259 | 15879 | OMIM:619846 | | | | | | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 6 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | | | | 217 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 6 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | . | | | 40 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 6 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 6 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 59 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 6 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0011893 | HP:0030388 | Decreased proportion of class-switched memory B cells | 6 | FNIP1 CL E G H | 96459 | 29418 | OMIM:619705 | IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93 | | | | 1 | | |
HP:0011893 | HP:0030388 | Decreased proportion of class-switched memory B cells | 6 | HYOU1 CL E G H | 10525 | 16931 | OMIM:233600 | Immunodeficiency 59 and hypoglycemia | | | | | | |
HP:0011893 | HP:0030388 | Decreased proportion of class-switched memory B cells | 6 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | | | | 32 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 6 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0011893 | HP:0030388 | Decreased proportion of class-switched memory B cells | 6 | IL21 CL E G H | 59067 | 6005 | OMIM:615767 | IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11 | | | | 3 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 6 | IL2RG CL E G H | 3561 | 6010 | OMIM:312863 | Combined immunodeficiency, X-linked | . | | | 48 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 6 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | HP:0040281 - Very frequent | | | 48 | | |
HP:0011893 | HP:0030388 | Decreased proportion of class-switched memory B cells | 6 | IL6R CL E G H | 3570 | 6019 | OMIM:618944 | HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5 | | | | 1 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 6 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | HP:0040282 - Frequent | | | 94 | | |
HP:0011893 | HP:0030388 | Decreased proportion of class-switched memory B cells | 6 | IRF2BP2 CL E G H | 359948 | 21729 | OMIM:617765 | IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14 | | | | 4 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 6 | ITK CL E G H | 3702 | 6171 | OMIM:613011 | LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1 | | | | 51 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 6 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 6 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 1 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 6 | LCK CL E G H | 3932 | 6524 | OMIM:615758 | Immunodeficiency 22 | . | | | 1 | | |
HP:0011893 | HP:0030388 | Decreased proportion of class-switched memory B cells | 6 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 6 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | HP:0040281 - Very frequent | | | 47 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 6 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | HP:0040281 - Very frequent | | | 46 | | |
HP:0011893 | HP:0030388 | Decreased proportion of class-switched memory B cells | 6 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 6 | MAGT1 CL E G H | 84061 | 28880 | OMIM:300853 | IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN | | | | 17 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 6 | MYC CL E G H | 4609 | 7553 | ORPHA:543 | Burkitt lymphoma | HP:0040283 - Occasional | | | 11 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 6 | NSMCE3 CL E G H | 56160 | 7677 | OMIM:617241 | LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS | | | | 2 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 6 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040281 - Very frequent | | | 15 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 6 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 9 | | |
HP:0011893 | HP:0030388 | Decreased proportion of class-switched memory B cells | 6 | PIK3CD CL E G H | 5293 | 8977 | OMIM:615513 | IMMUNODEFICIENCY 14; IMD14 | | | | 9 | | |
HP:0011893 | HP:0410385 | Decreased proportion of CD8-positive, alpha-beta memory T cells | 6 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0011893 | HP:0020177 | Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells | 6 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0011893 | HP:0410378 | Decreased proportion of naive CD4 T cells | 6 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | | | | 43 | | |
HP:0011893 | HP:0410377 | Decreased proportion of naive CD8 T cells | 6 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | | | | 43 | | |
HP:0011893 | HP:0030388 | Decreased proportion of class-switched memory B cells | 6 | PLCG2 CL E G H | 5336 | 9066 | OMIM:614878 | Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated | | | | 21 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 6 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0011893 | HP:0030388 | Decreased proportion of class-switched memory B cells | 6 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 6 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | | | |
HP:0011893 | HP:0030388 | Decreased proportion of class-switched memory B cells | 6 | REL CL E G H | 5966 | 9954 | OMIM:619652 | IMMUNODEFICIENCY 92; IMD92 | | | | 1 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 6 | RFX5 CL E G H | 5993 | 9986 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040282 - Frequent | | | 38 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 6 | RFXANK CL E G H | 8625 | 9987 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040282 - Frequent | | | 26 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 6 | RFXAP CL E G H | 5994 | 9988 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040282 - Frequent | | | 34 | | |
HP:0011893 | HP:0410377 | Decreased proportion of naive CD8 T cells | 6 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 6 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0011893 | HP:0410378 | Decreased proportion of naive CD4 T cells | 6 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0011893 | HP:0020177 | Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells | 6 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0011893 | HP:0410392 | Increased proportion of CD8-positive, alpha-beta memory T cells | 6 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0011893 | HP:0410377 | Decreased proportion of naive CD8 T cells | 6 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | HP:0040282 - Frequent | | | 74 | | |
HP:0011893 | HP:0030384 | Decreased proportion of marginal zone B cells | 6 | SOCS1 CL E G H | 8651 | 19383 | OMIM:619375 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD | | | | 6 | | |
HP:0011893 | HP:0030388 | Decreased proportion of class-switched memory B cells | 6 | SOCS1 CL E G H | 8651 | 19383 | OMIM:619375 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD | | | | 6 | | |
HP:0011893 | HP:0410385 | Decreased proportion of CD8-positive, alpha-beta memory T cells | 6 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0011893 | HP:0020177 | Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells | 6 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0011893 | HP:0410392 | Increased proportion of CD8-positive, alpha-beta memory T cells | 6 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0011893 | HP:0030388 | Decreased proportion of class-switched memory B cells | 6 | TET2 CL E G H | 54790 | 25941 | OMIM:619126 | IMMUNODEFICIENCY 75; IMD75 | | | | 3 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 6 | TOM1 CL E G H | 10043 | 11982 | OMIM:619510 | IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85 | | | | | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 6 | UNC119 CL E G H | 9094 | 12565 | OMIM:615518 | IMMUNODEFICIENCY 13; IMD13 | | | | 30 | | |
HP:0011893 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 6 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0011893 | HP:0005422 | Absence of CD8-positive T cells | 6 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | HP:0040282 - Frequent | | | 46 | | |
HP:0011893 | HP:0005422 | Absence of CD8-positive T cells | 6 | ZAP70 CL E G H | 7535 | 12858 | OMIM:269840 | SELECTIVE T-CELL DEFECT | | | | 46 | | |
HP:0011893 | HP:0410390 | Decreased proportion of effector memory CD8-positive, alpha-beta T cells | 7 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0410389 | Decreased proportion of central memory CD8-positive, alpha-beta T cells | 7 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0410396 | Increased proportion of central memory CD8-positive, alpha-beta T cells | 7 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0410394 | Increased proportion of effector memory CD4-positive, alpha-beta T cells | 7 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0410393 | Increased proportion of central memory CD4-positive, alpha-beta T cells | 7 | CL E G H | | | | | | | | | | |
HP:0011893 | HP:0410388 | Decreased proportion of central memory CD4-positive, alpha-beta T cells | 7 | BCL10 CL E G H | 8915 | 989 | OMIM:616098 | IMMUNODEFICIENCY 37; IMD37 | | | | 18 | | |
HP:0011893 | HP:0500266 | Decreased proportion of CD8-positive, alpha-beta TEMRA T cells | 7 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0011893 | HP:0500265 | Increased proportion of CD8-positive, alpha-beta TEMRA T cells | 7 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0011893 | HP:0500266 | Decreased proportion of CD8-positive, alpha-beta TEMRA T cells | 7 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0011893 | HP:0410395 | Increased proportion of effector memory CD8-positive, alpha-beta T cells | 7 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |