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:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | | | | 16 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | ADA CL E G H | 100 | 186 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 75 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | ADA CL E G H | 100 | 186 | ORPHA:277 | Severe combined immunodeficiency due to adenosine deaminase deficiency | | | | 75 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | ADA CL E G H | 100 | 186 | OMIM:102700 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | | | | 75 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:182410 | Sneddon syndrome | | | | 22 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | ADAMTS3 CL E G H | 9508 | 219 | ORPHA:2136 | Hennekam syndrome | | | | 1 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | AGA CL E G H | 175 | 318 | OMIM:208400 | ASPARTYLGLUCOSAMINURIA | | | | 76 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | AK2 CL E G H | 204 | 362 | OMIM:267500 | Reticular dysgenesia | | | | 19 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | | | | 68 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | ARHGEF1 CL E G H | 9138 | 681 | OMIM:618459 | Immunodeficiency 62 | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | ARPC1B CL E G H | 10095 | 704 | OMIM:617718 | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | ATM CL E G H | 472 | 795 | ORPHA:100 | Ataxia-telangiectasia | | | | 3267 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | | | | 3267 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | ATP11A CL E G H | 23250 | 13552 | OMIM:619851 | LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24 | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:301045 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R | | | | 36 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | B2M CL E G H | 567 | 914 | OMIM:241600 | Immunodeficiency 43 | | | | 8 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | BACH2 CL E G H | 60468 | 14078 | OMIM:618394 | IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60 | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | BCL10 CL E G H | 8915 | 989 | OMIM:616098 | IMMUNODEFICIENCY 37; IMD37 | | | | 18 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | BCL11B CL E G H | 64919 | 13222 | OMIM:617237 | Immunodeficiency 49 | | | | 3 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | | | | 314 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | BTK CL E G H | 695 | 1133 | OMIM:300755 | Agammaglobulinemia, X-linked | | | | 109 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | BTK CL E G H | 695 | 1133 | OMIM:307200 | Isolated growth hormone deficiency, type III, with agammaglobulinemia | | | | 109 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | | | | 1 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CARD11 CL E G H | 84433 | 16393 | OMIM:616452 | B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA | | | | 45 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CARD11 CL E G H | 84433 | 16393 | OMIM:615206 | Card11 immunodeficiency | | | | 45 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 87 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | | | | 87 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CASP8 CL E G H | 841 | 1509 | OMIM:607271 | CASPASE 8 DEFICIENCY | | | | 37 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CCBE1 CL E G H | 147372 | 29426 | ORPHA:2136 | Hennekam syndrome | | | | 147 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CD19 CL E G H | 930 | 1633 | ORPHA:1572 | Common variable immunodeficiency | | | | 38 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CD19 CL E G H | 930 | 1633 | OMIM:613493 | IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3 | | | | 38 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CD247 CL E G H | 919 | 1677 | OMIM:610163 | IMMUNODEFICIENCY 25; IMD25 | | | | 8 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 8 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CD28 CL E G H | 940 | 1653 | ORPHA:2584 | Classic mycosis fungoides | HP:0040281 - Very frequent | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CD28 CL E G H | 940 | 1653 | ORPHA:3162 | Sézary syndrome | HP:0040281 - Very frequent | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CD3D CL E G H | 915 | 1673 | OMIM:615617 | Immunodeficiency 19 | | | | 18 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 18 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CD3E CL E G H | 916 | 1674 | OMIM:615615 | Immunodeficiency 18 | | | | 24 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 24 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | | | | 19 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CD4 CL E G H | 920 | 1678 | OMIM:619238 | IMMUNODEFICIENCY 79; IMD79 | | | | 1 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CD4 CL E G H | 920 | 1678 | OMIM:613949 | Okt4 epitope deficiency | | | | 1 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CD70 CL E G H | 970 | 11937 | OMIM:618261 | LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3 | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CD79B CL E G H | 974 | 1699 | OMIM:612692 | Agammaglobulinemia 6, autosomal recessive | | | | 6 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CD81 CL E G H | 975 | 1701 | ORPHA:1572 | Common variable immunodeficiency | | | | 1 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CD8A CL E G H | 925 | 1706 | OMIM:608957 | Cd8 deficiency, familial | | | | 4 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CDCA7 CL E G H | 83879 | 14628 | ORPHA:2268 | ICF syndrome | | | | 4 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 515 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CIITA CL E G H | 4261 | 7067 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 118 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CLN3 CL E G H | 1201 | 2074 | OMIM:204200 | Ceroid lipofuscinosis, neuronal, 3 | | | | 216 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CLN3 CL E G H | 1201 | 2074 | ORPHA:228346 | CLN3 disease | | | | 216 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CLPB CL E G H | 81570 | 30664 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 38 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CORO1A CL E G H | 11151 | 2252 | OMIM:615401 | Immunodeficiency 8 | | | | 7 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CR2 CL E G H | 1380 | 2336 | ORPHA:1572 | Common variable immunodeficiency | | | | 10 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CTLA4 CL E G H | 1493 | 2505 | OMIM:616100 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5 | | | | 10 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:2584 | Classic mycosis fungoides | HP:0040281 - Very frequent | | | 10 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:3162 | Sézary syndrome | HP:0040281 - Very frequent | | | 10 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CTNNBL1 CL E G H | 56259 | 15879 | OMIM:619846 | | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CTPS1 CL E G H | 1503 | 2519 | OMIM:615897 | IMMUNODEFICIENCY 24; IMD24 | | | | 2 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CXCR4 CL E G H | 7852 | 2561 | ORPHA:51636 | WHIM syndrome | | | | 9 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | CYBC1 CL E G H | 79415 | 28672 | OMIM:618935 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5 | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:603554 | Omenn syndrome | | | | 94 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 94 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:275 | Severe combined immunodeficiency due to DCLRE1C deficiency | | | | 94 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:602450 | Severe combined immunodeficiency with sensitivity to ionizing radiation | | | | 94 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | DNMT3B CL E G H | 1789 | 2979 | ORPHA:2268 | ICF syndrome | | | | 79 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | DNMT3B CL E G H | 1789 | 2979 | OMIM:242860 | Immunodeficiency-Centromeric instability-facial anomalies syndrome | | | | 79 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | | | | 6 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | DOCK8 CL E G H | 81704 | 19191 | ORPHA:217390 | Combined immunodeficiency due to DOCK8 deficiency | | | | 217 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | | | | 217 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | | | | 65 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | ELANE CL E G H | 1991 | 3309 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 79 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | ELANE CL E G H | 1991 | 3309 | ORPHA:2686 | Cyclic neutropenia | | | | 79 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | ELF4 CL E G H | 2000 | 3319 | OMIM:301074 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2 | | | | 1 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | EXTL3 CL E G H | 2137 | 3518 | OMIM:617425 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | | | | 3 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | | | | 3 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | FAS CL E G H | 355 | 11920 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | FASLG CL E G H | 356 | 11936 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | FAT4 CL E G H | 79633 | 23109 | ORPHA:2136 | Hennekam syndrome | | | | 114 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | FCGR3A CL E G H | 2214 | 3619 | OMIM:615707 | Immunodeficiency 20 | | | | 4 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | FCHO1 CL E G H | 23149 | 29002 | OMIM:619164 | IMMUNODEFICIENCY 76; IMD76 | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | FNIP1 CL E G H | 96459 | 29418 | OMIM:619705 | IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93 | | | | 1 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | FOXN1 CL E G H | 8456 | 12765 | ORPHA:169095 | Severe combined immunodeficiency due to FOXN1 deficiency | | | | 54 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | FOXN1 CL E G H | 8456 | 12765 | OMIM:601705 | T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY | | | | 54 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | FOXN1 CL E G H | 8456 | 12765 | OMIM:618806 | T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND | | | | 54 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | | | | 32 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | FUCA1 CL E G H | 2517 | 4006 | OMIM:230000 | FUCOSIDOSIS | | | | 43 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | | | | 37 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | GATA2 CL E G H | 2624 | 4171 | OMIM:614172 | Immunodeficiency 21 | | | | 137 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | GATA2 CL E G H | 2624 | 4171 | OMIM:614038 | Lymphedema, primary, with myelodysplasia | | | | 137 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | GFI1 CL E G H | 2672 | 4237 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 56 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | GFI1 CL E G H | 2672 | 4237 | OMIM:613107 | Neutropenia, severe congenital, 2, autosomal dominant | | | | 56 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | GINS1 CL E G H | 9837 | 28980 | OMIM:617827 | Immunodeficiency 55 | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230500 | GM1-gangliosidosis, type I | | | | 120 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | GTF2H5 CL E G H | 404672 | 21157 | OMIM:616395 | Trichothiodystrophy 3, photosensitive | | | | 3 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | HELLS CL E G H | 3070 | 4861 | ORPHA:2268 | ICF syndrome | | | | 6 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:133 | Chronic beryllium disease | | | | 1 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | | | | 2 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | HYOU1 CL E G H | 10525 | 16931 | OMIM:233600 | Immunodeficiency 59 and hypoglycemia | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | ICOS CL E G H | 29851 | 5351 | ORPHA:1572 | Common variable immunodeficiency | | | | 32 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | | | | 32 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:619773 | IMMUNODEFICIENCY 95; IMD95 | | | | 28 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | IGHM CL E G H | 3507 | 5541 | OMIM:601495 | Agammaglobulinemia 1, autosomal recessive | | | | 7 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | IGLL1 CL E G H | 3543 | 5870 | OMIM:613500 | Agammaglobulinemia 2, autosomal recessive | | | | 3 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:301081 | | | | | 52 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | IKZF1 CL E G H | 10320 | 13176 | OMIM:616873 | IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13 | | | | 8 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | IKZF3 CL E G H | 22806 | 13178 | OMIM:619437 | IMMUNODEFICIENCY 84; IMD84 | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | IL21 CL E G H | 59067 | 6005 | OMIM:615767 | IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11 | | | | 3 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | IL2RB CL E G H | 3560 | 6009 | OMIM:618495 | Immunodeficiency 63 with lymphoproliferation and autoimmunity | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | IL2RG CL E G H | 3561 | 6010 | OMIM:312863 | Combined immunodeficiency, X-linked | | | | 48 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | IL2RG CL E G H | 3561 | 6010 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 48 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | IL2RG CL E G H | 3561 | 6010 | OMIM:300400 | Severe combined immunodeficiency, X-linked | | | | 48 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | | | | 48 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | IL6R CL E G H | 3570 | 6019 | OMIM:618944 | HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5 | | | | 1 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:619752 | HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | IL7 CL E G H | 3574 | 6023 | OMIM:618309 | EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5 | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | IL7R CL E G H | 3575 | 6024 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 94 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | IL7R CL E G H | 3575 | 6024 | OMIM:608971 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive | | | | 94 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | | | | 94 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | IRAK1 CL E G H | 3654 | 6112 | ORPHA:93552 | Pediatric systemic lupus erythematosus | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:1572 | Common variable immunodeficiency | | | | 4 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | IRF2BP2 CL E G H | 359948 | 21729 | OMIM:617765 | IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14 | | | | 4 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | ITK CL E G H | 3702 | 6171 | OMIM:613011 | LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1 | | | | 51 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | JAK3 CL E G H | 3718 | 6193 | OMIM:600802 | Scid, autosomal recessive, T-Negative/b-Positive type | | | | 140 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | | | | 140 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | KLHDC8B CL E G H | 200942 | 28557 | OMIM:236000 | Lymphoma, hodgkin | | | | 1 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | | | | 196 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | LAT CL E G H | 27040 | 18874 | OMIM:617514 | Immunodeficiency 52 | | | | 2 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | LCK CL E G H | 3932 | 6524 | OMIM:615758 | Immunodeficiency 22 | | | | 1 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | | | | 47 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | | | | 46 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | LIG1 CL E G H | 3978 | 6598 | OMIM:619774 | IMMUNODEFICIENCY 96; IMD96 | | | | 9 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 88 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | LMNB2 CL E G H | 84823 | 6638 | ORPHA:79087 | Acquired partial lipodystrophy | | | | 11 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | | | | 239 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | MAGT1 CL E G H | 84061 | 28880 | OMIM:300853 | IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN | | | | 17 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | MAN2B1 CL E G H | 4125 | 6826 | OMIM:248500 | Alpha-mannosidosis | | | | 136 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | MCM10 CL E G H | 55388 | 18043 | OMIM:619313 | IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80 | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | MCM4 CL E G H | 4173 | 6947 | OMIM:609981 | Immunodeficiency 54 | | | | 69 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | MDM4 CL E G H | 4194 | 6974 | OMIM:618849 | BONE MARROW FAILURE SYNDROME 6; BMFS6 | | | | 1 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | MGAT2 CL E G H | 4247 | 7045 | ORPHA:79329 | MGAT2-CDG | | | | 39 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | MS4A1 CL E G H | 931 | 7315 | ORPHA:1572 | Common variable immunodeficiency | | | | 1 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | MSN CL E G H | 4478 | 7373 | OMIM:300988 | Immunodeficiency 50 | | | | 2 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | MTHFD1 CL E G H | 4522 | 7432 | OMIM:617780 | Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | | | | 5 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | MYC CL E G H | 4609 | 7553 | ORPHA:543 | Burkitt lymphoma | | | | 11 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | MYD88 CL E G H | 4615 | 7562 | OMIM:153600 | Macroglobulinemia, Waldenstrom, somatic | | | | 9 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | MYD88 CL E G H | 4615 | 7562 | OMIM:612260 | MYD88 DEFICIENCY; MYD88D | | | | 9 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | MYSM1 CL E G H | 114803 | 29401 | ORPHA:508542 | Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | NBN CL E G H | 4683 | 7652 | OMIM:251260 | Nijmegen breakage syndrome | | | | 706 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | NCKAP1L CL E G H | 3071 | 4862 | OMIM:618982 | IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72 | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | NEU1 CL E G H | 4758 | 7758 | OMIM:256550 | Neuraminidase deficiency | | | | 43 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | NFKB1 CL E G H | 4790 | 7794 | ORPHA:1572 | Common variable immunodeficiency | | | | 7 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:1572 | Common variable immunodeficiency | | | | 11 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | NHEJ1 CL E G H | 79840 | 25737 | ORPHA:169079 | Cernunnos-XLF deficiency | | | | 20 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | NLRC4 CL E G H | 58484 | 16412 | OMIM:616050 | AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC | | | | 30 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | | | | 102 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | NSMCE3 CL E G H | 56160 | 7677 | OMIM:617241 | LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS | | | | 2 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | OTULIN CL E G H | 90268 | 25118 | OMIM:617099 | AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS | | | | 3 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | PGM3 CL E G H | 5238 | 8907 | OMIM:615816 | Immunodeficiency 23 | | | | 15 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | | | | 15 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | PI4KA CL E G H | 5297 | 8983 | OMIM:619708 | GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2 | | | | 11 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | PIK3CD CL E G H | 5293 | 8977 | OMIM:615513 | IMMUNODEFICIENCY 14; IMD14 | | | | 9 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | PIK3CD CL E G H | 5293 | 8977 | OMIM:619281 | IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B | | | | 9 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | | | | 43 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | PLCG2 CL E G H | 5336 | 9066 | OMIM:614878 | Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated | | | | 21 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | PNP CL E G H | 4860 | 7892 | OMIM:613179 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | | | | 52 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | PNP CL E G H | 4860 | 7892 | ORPHA:760 | Purine nucleoside phosphorylase deficiency | | | | 52 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:565612 | Triglyceride deposit cardiomyovasculopathy | | | | 65 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | POMP CL E G H | 51371 | 20330 | OMIM:618048 | Proteasome-Associated autoinflammatory syndrome 2 | | | | 2 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | PRIM1 CL E G H | 5557 | 9369 | OMIM:620005 | | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 10 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:1572 | Common variable immunodeficiency | | | | 10 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | PSMB4 CL E G H | 5692 | 9541 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | PSMB9 CL E G H | 5698 | 9546 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | PTEN CL E G H | 5728 | 9588 | OMIM:158350 | Cowden syndrome 1 | | | | 948 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | PTEN CL E G H | 5728 | 9588 | OMIM:605309 | Macrocephaly/autism syndrome | | | | 948 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | PTPRC CL E G H | 5788 | 9666 | OMIM:619924 | | | | | 25 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | RAC2 CL E G H | 5880 | 9802 | OMIM:618987 | IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C | | | | 9 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | RAC2 CL E G H | 5880 | 9802 | OMIM:608203 | NEUTROPHIL IMMUNODEFICIENCY SYNDROME | | | | 9 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | RAG1 CL E G H | 5896 | 9831 | OMIM:233650 | Combined cellular and humoral immune defects with granulomas | | | | 127 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | RAG1 CL E G H | 5896 | 9831 | ORPHA:231154 | Combined immunodeficiency due to partial RAG1 deficiency | | | | 127 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | RAG1 CL E G H | 5896 | 9831 | OMIM:603554 | Omenn syndrome | | | | 127 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | RAG1 CL E G H | 5896 | 9831 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 127 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | | | | 127 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | RAG1 CL E G H | 5896 | 9831 | OMIM:601457 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | | | 127 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | RAG2 CL E G H | 5897 | 9832 | OMIM:233650 | Combined cellular and humoral immune defects with granulomas | | | | 50 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | RAG2 CL E G H | 5897 | 9832 | OMIM:603554 | Omenn syndrome | | | | 50 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | RAG2 CL E G H | 5897 | 9832 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 50 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | | | | 50 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | RAG2 CL E G H | 5897 | 9832 | OMIM:601457 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | | | 50 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | REL CL E G H | 5966 | 9954 | OMIM:619652 | IMMUNODEFICIENCY 92; IMD92 | | | | 1 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | RFX5 CL E G H | 5993 | 9986 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 38 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | RFXANK CL E G H | 8625 | 9987 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 26 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | RFXAP CL E G H | 5994 | 9988 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 34 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | RIPK1 CL E G H | 8737 | 10019 | OMIM:618108 | IMMUNODEFICIENCY 57; IMD57 | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | RMRP CL E G H | 6023 | 10031 | OMIM:250250 | Cartilage-Hair hypoplasia | | | | 37 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | RMRP CL E G H | 6023 | 10031 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | RNASEH2B CL E G H | 79621 | 25671 | OMIM:610181 | Aicardi-Goutieres syndrome 2 | | | | 34 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | RPA1 CL E G H | 6117 | 10289 | OMIM:619767 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6 | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | RRAS2 CL E G H | 22800 | 17271 | OMIM:618624 | NOONAN SYNDROME 12; NS12 | | | | 1 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | | | | 8 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | SGPL1 CL E G H | 8879 | 10817 | OMIM:617575 | Nephrotic syndrome, type 14 | | | | 8 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | SH2D1A CL E G H | 4068 | 10820 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 37 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | SLC17A5 CL E G H | 26503 | 10933 | OMIM:269920 | Infantile sialic acid storage disease | | | | 78 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | SLC17A5 CL E G H | 26503 | 10933 | OMIM:604369 | Salla disease | | | | 78 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | SLC39A7 CL E G H | 7922 | 4927 | OMIM:619693 | AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9 | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | | | | 74 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | | | | 74 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | SOCS1 CL E G H | 8651 | 19383 | OMIM:619375 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD | | | | 6 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | | | | 49 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | SPI1 CL E G H | 6688 | 11241 | OMIM:619707 | AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10 | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | SPP1 CL E G H | 6696 | 11255 | ORPHA:93552 | Pediatric systemic lupus erythematosus | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | SPRED2 CL E G H | 200734 | 17722 | OMIM:619745 | NOONAN SYNDROME 14; NS14 | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | 89 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | STAT1 CL E G H | 6772 | 11362 | OMIM:614162 | Immunodeficiency 31C | | | | 89 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | STAT2 CL E G H | 6773 | 11363 | OMIM:616636 | Immunodeficiency 44 | | | | 9 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:93552 | Pediatric systemic lupus erythematosus | | | | 2 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | STING1 CL E G H | 340061 | 27962 | OMIM:615934 | STING-associated vasculopathy, infantile-onset | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | STK4 CL E G H | 6789 | 11408 | OMIM:614868 | T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS | | | | 4 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | TBX2 CL E G H | 6909 | 11597 | OMIM:618223 | VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | TCF3 CL E G H | 6929 | 11633 | OMIM:616941 | Agammaglobulinemia 8, autosomal dominant | | | | 2 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 82 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | TCN2 CL E G H | 6948 | 11653 | ORPHA:859 | Transcobalamin deficiency | | | | 57 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | TERC CL E G H | 7012 | 11727 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | | | | 48 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | TERT CL E G H | 7015 | 11730 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | | | | 238 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | TET2 CL E G H | 54790 | 25941 | OMIM:619126 | IMMUNODEFICIENCY 75; IMD75 | | | | 3 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | TFR2 CL E G H | 7036 | 11762 | OMIM:604250 | Hemochromatosis, type 3 | | | | 67 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | | | | 60 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | TLR7 CL E G H | 51284 | 15631 | OMIM:301080 | | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | TNFAIP3 CL E G H | 7128 | 11896 | OMIM:616744 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL | | | | 26 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | TNFRSF13B CL E G H | 23495 | 18153 | ORPHA:1572 | Common variable immunodeficiency | | | | 32 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | TNFRSF13B CL E G H | 23495 | 18153 | OMIM:609529 | Immunoglobulin A deficiency 2 | . | | | 32 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | TNFRSF13C CL E G H | 115650 | 17755 | ORPHA:1572 | Common variable immunodeficiency | | | | 12 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | TNFRSF1B CL E G H | 7133 | 11917 | ORPHA:2584 | Classic mycosis fungoides | HP:0040281 - Very frequent | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | TNFRSF1B CL E G H | 7133 | 11917 | ORPHA:3162 | Sézary syndrome | HP:0040281 - Very frequent | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | TNFSF12 CL E G H | 8742 | 11927 | ORPHA:1572 | Common variable immunodeficiency | | | | 1 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | TOM1 CL E G H | 10043 | 11982 | OMIM:619510 | IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85 | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | TPP2 CL E G H | 7174 | 12016 | ORPHA:444463 | Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | TRNT1 CL E G H | 51095 | 17341 | OMIM:616084 | SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD | | | | 28 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | TTC7A CL E G H | 57217 | 19750 | OMIM:243150 | Gastrointestinal defects and immunodeficiency syndrome | | | | 26 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | TTI2 CL E G H | 80185 | 26262 | ORPHA:391307 | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | | | | 11 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | UNC119 CL E G H | 9094 | 12565 | OMIM:615518 | IMMUNODEFICIENCY 13; IMD13 | | | | 30 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | WAS CL E G H | 7454 | 12731 | OMIM:300299 | Neutropenia, severe congenital, X-linked | | | | 65 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | | | | 6 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | WIPF1 CL E G H | 7456 | 12736 | OMIM:614493 | WISKOTT-ALDRICH SYNDROME 2; WAS2 | | | | 6 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | XIAP CL E G H | 331 | 592 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 81 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | XRCC4 CL E G H | 7518 | 12831 | OMIM:616541 | Short stature, microcephaly, and endocrine dysfunction | | | | 9 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | ZAP70 CL E G H | 7535 | 12858 | OMIM:617006 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2 | | | | 46 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | | | | 46 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | ZAP70 CL E G H | 7535 | 12858 | OMIM:269840 | SELECTIVE T-CELL DEFECT | | | | 46 | | |
HP:0004332 | HP:0004332 | Abnormal lymphocyte morphology | 0 | ZBTB24 CL E G H | 9841 | 21143 | ORPHA:2268 | ICF syndrome | | | | 9 | | |
HP:0004332 | HP:0030150 | Plasmacytosis | 1 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | | | | 16 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | | | | 16 | | |
HP:0004332 | 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:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | ADA CL E G H | 100 | 186 | ORPHA:277 | Severe combined immunodeficiency due to adenosine deaminase deficiency | | | | 75 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | ADA CL E G H | 100 | 186 | ORPHA:277 | Severe combined immunodeficiency due to adenosine deaminase deficiency | | | | 75 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | ADA CL E G H | 100 | 186 | OMIM:102700 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | | | | 75 | | |
HP:0004332 | 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:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | ADA2 CL E G H | 51816 | 1839 | OMIM:182410 | Sneddon syndrome | | | | 22 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | ADAMTS3 CL E G H | 9508 | 219 | ORPHA:2136 | Hennekam syndrome | | | | 1 | | |
HP:0004332 | HP:0001922 | Vacuolated lymphocytes | 1 | AGA CL E G H | 175 | 318 | OMIM:208400 | ASPARTYLGLUCOSAMINURIA | . | | | 76 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | AK2 CL E G H | 204 | 362 | OMIM:267500 | Reticular dysgenesia | | | | 19 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | | | | 68 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | | | | 68 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0004332 | HP:0012176 | Abnormal natural killer cell morphology | 1 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | ARHGEF1 CL E G H | 9138 | 681 | OMIM:618459 | Immunodeficiency 62 | | | | | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | ARHGEF1 CL E G H | 9138 | 681 | OMIM:618459 | Immunodeficiency 62 | | | | | | |
HP:0004332 | 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:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | | | | 3267 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | | | | 3267 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | ATM CL E G H | 472 | 795 | ORPHA:100 | Ataxia-telangiectasia | | | | 3267 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | ATP11A CL E G H | 23250 | 13552 | OMIM:619851 | LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24 | | | | | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | ATP11A CL E G H | 23250 | 13552 | OMIM:619851 | LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24 | | | | | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:301045 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R | | | | 36 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:301045 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R | | | | 36 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0004332 | HP:0012176 | Abnormal natural killer cell morphology | 1 | B2M CL E G H | 567 | 914 | OMIM:241600 | Immunodeficiency 43 | | | | 8 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | B2M CL E G H | 567 | 914 | OMIM:241600 | Immunodeficiency 43 | | | | 8 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | B2M CL E G H | 567 | 914 | OMIM:241600 | Immunodeficiency 43 | | | | 8 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | BACH2 CL E G H | 60468 | 14078 | OMIM:618394 | IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60 | | | | | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | BACH2 CL E G H | 60468 | 14078 | OMIM:618394 | IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60 | | | | | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | BCL10 CL E G H | 8915 | 989 | OMIM:616098 | IMMUNODEFICIENCY 37; IMD37 | | | | 18 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | BCL10 CL E G H | 8915 | 989 | OMIM:616098 | IMMUNODEFICIENCY 37; IMD37 | | | | 18 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | BCL11B CL E G H | 64919 | 13222 | OMIM:617237 | Immunodeficiency 49 | | | | 3 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | | | | 314 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | | | | 314 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | BTK CL E G H | 695 | 1133 | OMIM:300755 | Agammaglobulinemia, X-linked | | | | 109 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | BTK CL E G H | 695 | 1133 | OMIM:300755 | Agammaglobulinemia, X-linked | | | | 109 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | BTK CL E G H | 695 | 1133 | OMIM:307200 | Isolated growth hormone deficiency, type III, with agammaglobulinemia | | | | 109 | | |
HP:0004332 | 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:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | | | | 1 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | | | | 1 | | |
HP:0004332 | 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:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | CARD11 CL E G H | 84433 | 16393 | OMIM:616452 | B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA | | | | 45 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | CARD11 CL E G H | 84433 | 16393 | OMIM:615206 | Card11 immunodeficiency | | | | 45 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | CARD11 CL E G H | 84433 | 16393 | OMIM:615206 | Card11 immunodeficiency | | | | 45 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 87 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 87 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 87 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | | | | 87 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | | | | 87 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | | | | 87 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | CASP8 CL E G H | 841 | 1509 | OMIM:607271 | CASPASE 8 DEFICIENCY | | | | 37 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | CASP8 CL E G H | 841 | 1509 | OMIM:607271 | CASPASE 8 DEFICIENCY | | | | 37 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | CCBE1 CL E G H | 147372 | 29426 | ORPHA:2136 | Hennekam syndrome | | | | 147 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | CD19 CL E G H | 930 | 1633 | ORPHA:1572 | Common variable immunodeficiency | | | | 38 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | CD19 CL E G H | 930 | 1633 | OMIM:613493 | IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3 | | | | 38 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | CD19 CL E G H | 930 | 1633 | OMIM:613493 | IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3 | | | | 38 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | CD247 CL E G H | 919 | 1677 | OMIM:610163 | IMMUNODEFICIENCY 25; IMD25 | | | | 8 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | CD247 CL E G H | 919 | 1677 | OMIM:610163 | IMMUNODEFICIENCY 25; IMD25 | | | | 8 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 8 | | |
HP:0004332 | 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:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | CD3D CL E G H | 915 | 1673 | OMIM:615617 | Immunodeficiency 19 | | | | 18 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 18 | | |
HP:0004332 | 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:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | CD3E CL E G H | 916 | 1674 | OMIM:615615 | Immunodeficiency 18 | | | | 24 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | CD3E CL E G H | 916 | 1674 | OMIM:615615 | Immunodeficiency 18 | | | | 24 | | |
HP:0004332 | 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:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 24 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | | | | 19 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | . | | | 19 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | CD4 CL E G H | 920 | 1678 | OMIM:619238 | IMMUNODEFICIENCY 79; IMD79 | | | | 1 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | CD4 CL E G H | 920 | 1678 | OMIM:619238 | IMMUNODEFICIENCY 79; IMD79 | | | | 1 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | CD4 CL E G H | 920 | 1678 | OMIM:613949 | Okt4 epitope deficiency | . | | | 1 | | |
HP:0004332 | HP:0012176 | Abnormal natural killer cell morphology | 1 | CD70 CL E G H | 970 | 11937 | OMIM:618261 | LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3 | | | | | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | CD79B CL E G H | 974 | 1699 | OMIM:612692 | Agammaglobulinemia 6, autosomal recessive | | | | 6 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | CD79B CL E G H | 974 | 1699 | OMIM:612692 | Agammaglobulinemia 6, autosomal recessive | | | | 6 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | CD81 CL E G H | 975 | 1701 | ORPHA:1572 | Common variable immunodeficiency | | | | 1 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | CD8A CL E G H | 925 | 1706 | OMIM:608957 | Cd8 deficiency, familial | | | | 4 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | CD8A CL E G H | 925 | 1706 | OMIM:608957 | Cd8 deficiency, familial | | | | 4 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | CDCA7 CL E G H | 83879 | 14628 | ORPHA:2268 | ICF syndrome | | | | 4 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0004332 | 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:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | CIITA CL E G H | 4261 | 7067 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 118 | | |
HP:0004332 | HP:0001922 | Vacuolated lymphocytes | 1 | CLN3 CL E G H | 1201 | 2074 | OMIM:204200 | Ceroid lipofuscinosis, neuronal, 3 | . | | | 216 | | |
HP:0004332 | HP:0001922 | Vacuolated lymphocytes | 1 | CLN3 CL E G H | 1201 | 2074 | ORPHA:228346 | CLN3 disease | | | | 216 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | CLPB CL E G H | 81570 | 30664 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 38 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | CORO1A CL E G H | 11151 | 2252 | OMIM:615401 | Immunodeficiency 8 | | | | 7 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | CR2 CL E G H | 1380 | 2336 | ORPHA:1572 | Common variable immunodeficiency | | | | 10 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | CTLA4 CL E G H | 1493 | 2505 | OMIM:616100 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5 | | | | 10 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | CTNNBL1 CL E G H | 56259 | 15879 | OMIM:619846 | | | | | | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | CTNNBL1 CL E G H | 56259 | 15879 | OMIM:619846 | | | | | | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | CTNNBL1 CL E G H | 56259 | 15879 | OMIM:619846 | | | | | | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | CTPS1 CL E G H | 1503 | 2519 | OMIM:615897 | IMMUNODEFICIENCY 24; IMD24 | | | | 2 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | CTPS1 CL E G H | 1503 | 2519 | OMIM:615897 | IMMUNODEFICIENCY 24; IMD24 | | | | 2 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | CTPS1 CL E G H | 1503 | 2519 | OMIM:615897 | IMMUNODEFICIENCY 24; IMD24 | | | | 2 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | CXCR4 CL E G H | 7852 | 2561 | ORPHA:51636 | WHIM syndrome | | | | 9 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | CYBC1 CL E G H | 79415 | 28672 | OMIM:618935 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5 | | | | | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:603554 | Omenn syndrome | | | | 94 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:603554 | Omenn syndrome | | | | 94 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:275 | Severe combined immunodeficiency due to DCLRE1C deficiency | | | | 94 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:275 | Severe combined immunodeficiency due to DCLRE1C deficiency | | | | 94 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:602450 | Severe combined immunodeficiency with sensitivity to ionizing radiation | | | | 94 | | |
HP:0004332 | 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:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:602450 | Severe combined immunodeficiency with sensitivity to ionizing radiation | | | | 94 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | DNMT3B CL E G H | 1789 | 2979 | ORPHA:2268 | ICF syndrome | | | | 79 | | |
HP:0004332 | HP:0012176 | Abnormal natural killer cell morphology | 1 | DNMT3B CL E G H | 1789 | 2979 | OMIM:242860 | Immunodeficiency-Centromeric instability-facial anomalies syndrome | | | | 79 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | DNMT3B CL E G H | 1789 | 2979 | OMIM:242860 | Immunodeficiency-Centromeric instability-facial anomalies syndrome | | | | 79 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | DNMT3B CL E G H | 1789 | 2979 | OMIM:242860 | Immunodeficiency-Centromeric instability-facial anomalies syndrome | | | | 79 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | | | | 6 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | | | | 6 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | DOCK8 CL E G H | 81704 | 19191 | ORPHA:217390 | Combined immunodeficiency due to DOCK8 deficiency | | | | 217 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | DOCK8 CL E G H | 81704 | 19191 | ORPHA:217390 | Combined immunodeficiency due to DOCK8 deficiency | | | | 217 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | DOCK8 CL E G H | 81704 | 19191 | ORPHA:217390 | Combined immunodeficiency due to DOCK8 deficiency | | | | 217 | | |
HP:0004332 | HP:0012176 | Abnormal natural killer cell morphology | 1 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | | | | 217 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | | | | 217 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | | | | 217 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | | | | 65 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | ELANE CL E G H | 1991 | 3309 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 79 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | ELANE CL E G H | 1991 | 3309 | ORPHA:2686 | Cyclic neutropenia | | | | 79 | | |
HP:0004332 | 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:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | ELF4 CL E G H | 2000 | 3319 | OMIM:301074 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2 | | | | 1 | | |
HP:0004332 | HP:0012176 | Abnormal natural killer cell morphology | 1 | ELF4 CL E G H | 2000 | 3319 | OMIM:301074 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2 | | | | 1 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | EXTL3 CL E G H | 2137 | 3518 | OMIM:617425 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | | | | 3 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | | | | 3 | | |
HP:0004332 | 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:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | FAS CL E G H | 355 | 11920 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | FAS CL E G H | 355 | 11920 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | FASLG CL E G H | 356 | 11936 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | FASLG CL E G H | 356 | 11936 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | FAT4 CL E G H | 79633 | 23109 | ORPHA:2136 | Hennekam syndrome | | | | 114 | | |
HP:0004332 | HP:0012176 | Abnormal natural killer cell morphology | 1 | FCGR3A CL E G H | 2214 | 3619 | OMIM:615707 | Immunodeficiency 20 | | | | 4 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | FCHO1 CL E G H | 23149 | 29002 | OMIM:619164 | IMMUNODEFICIENCY 76; IMD76 | | | | | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | FCHO1 CL E G H | 23149 | 29002 | OMIM:619164 | IMMUNODEFICIENCY 76; IMD76 | | | | | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | FCHO1 CL E G H | 23149 | 29002 | OMIM:619164 | IMMUNODEFICIENCY 76; IMD76 | | | | | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | FNIP1 CL E G H | 96459 | 29418 | OMIM:619705 | IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93 | | | | 1 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | FNIP1 CL E G H | 96459 | 29418 | OMIM:619705 | IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93 | | | | 1 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | FOXN1 CL E G H | 8456 | 12765 | ORPHA:169095 | Severe combined immunodeficiency due to FOXN1 deficiency | | | | 54 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | FOXN1 CL E G H | 8456 | 12765 | ORPHA:169095 | Severe combined immunodeficiency due to FOXN1 deficiency | | | | 54 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | FOXN1 CL E G H | 8456 | 12765 | OMIM:601705 | T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY | | | | 54 | | |
HP:0004332 | 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:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | FOXN1 CL E G H | 8456 | 12765 | OMIM:618806 | T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND | | | | 54 | | |
HP:0004332 | 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:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | | | | 32 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | | | | 32 | | |
HP:0004332 | HP:0001922 | Vacuolated lymphocytes | 1 | FUCA1 CL E G H | 2517 | 4006 | OMIM:230000 | FUCOSIDOSIS | . | | | 43 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | | | | 37 | | |
HP:0004332 | HP:0012176 | Abnormal natural killer cell morphology | 1 | GATA2 CL E G H | 2624 | 4171 | OMIM:614172 | Immunodeficiency 21 | . | | | 137 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | GATA2 CL E G H | 2624 | 4171 | OMIM:614172 | Immunodeficiency 21 | | | | 137 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | GATA2 CL E G H | 2624 | 4171 | OMIM:614038 | Lymphedema, primary, with myelodysplasia | | | | 137 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | GATA2 CL E G H | 2624 | 4171 | OMIM:614038 | Lymphedema, primary, with myelodysplasia | | | | 137 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | GFI1 CL E G H | 2672 | 4237 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 56 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | GFI1 CL E G H | 2672 | 4237 | OMIM:613107 | Neutropenia, severe congenital, 2, autosomal dominant | | | | 56 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | GFI1 CL E G H | 2672 | 4237 | OMIM:613107 | Neutropenia, severe congenital, 2, autosomal dominant | | | | 56 | | |
HP:0004332 | HP:0012176 | Abnormal natural killer cell morphology | 1 | GINS1 CL E G H | 9837 | 28980 | OMIM:617827 | Immunodeficiency 55 | | | | | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | GINS1 CL E G H | 9837 | 28980 | OMIM:617827 | Immunodeficiency 55 | | | | | | |
HP:0004332 | HP:0001922 | Vacuolated lymphocytes | 1 | GLB1 CL E G H | 2720 | 4298 | OMIM:230500 | GM1-gangliosidosis, type I | | | | 120 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | GTF2H5 CL E G H | 404672 | 21157 | OMIM:616395 | Trichothiodystrophy 3, photosensitive | | | | 3 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | HELLS CL E G H | 3070 | 4861 | ORPHA:2268 | ICF syndrome | | | | 6 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:133 | Chronic beryllium disease | | | | 1 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:133 | Chronic beryllium disease | | | | 1 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | | | | 2 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | | | | 2 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | HYOU1 CL E G H | 10525 | 16931 | OMIM:233600 | Immunodeficiency 59 and hypoglycemia | | | | | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | HYOU1 CL E G H | 10525 | 16931 | OMIM:233600 | Immunodeficiency 59 and hypoglycemia | | | | | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | ICOS CL E G H | 29851 | 5351 | ORPHA:1572 | Common variable immunodeficiency | | | | 32 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | | | | 32 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | | | | 32 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | IFIH1 CL E G H | 64135 | 18873 | OMIM:619773 | IMMUNODEFICIENCY 95; IMD95 | | | | 28 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | IGHM CL E G H | 3507 | 5541 | OMIM:601495 | Agammaglobulinemia 1, autosomal recessive | | | | 7 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | IGHM CL E G H | 3507 | 5541 | OMIM:601495 | Agammaglobulinemia 1, autosomal recessive | | | | 7 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | IGLL1 CL E G H | 3543 | 5870 | OMIM:613500 | Agammaglobulinemia 2, autosomal recessive | | | | 3 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | IGLL1 CL E G H | 3543 | 5870 | OMIM:613500 | Agammaglobulinemia 2, autosomal recessive | | | | 3 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | IKBKG CL E G H | 8517 | 5961 | OMIM:301081 | | | | | 52 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | IKBKG CL E G H | 8517 | 5961 | OMIM:301081 | | | | | 52 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | IKZF1 CL E G H | 10320 | 13176 | OMIM:616873 | IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13 | | | | 8 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | IKZF1 CL E G H | 10320 | 13176 | OMIM:616873 | IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13 | | | | 8 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | IKZF3 CL E G H | 22806 | 13178 | OMIM:619437 | IMMUNODEFICIENCY 84; IMD84 | | | | | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | IKZF3 CL E G H | 22806 | 13178 | OMIM:619437 | IMMUNODEFICIENCY 84; IMD84 | | | | | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | IL21 CL E G H | 59067 | 6005 | OMIM:615767 | IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11 | | | | 3 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | IL21 CL E G H | 59067 | 6005 | OMIM:615767 | IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11 | | | | 3 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | IL2RB CL E G H | 3560 | 6009 | OMIM:618495 | Immunodeficiency 63 with lymphoproliferation and autoimmunity | | | | | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | IL2RB CL E G H | 3560 | 6009 | OMIM:618495 | Immunodeficiency 63 with lymphoproliferation and autoimmunity | | | | | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | IL2RG CL E G H | 3561 | 6010 | OMIM:312863 | Combined immunodeficiency, X-linked | | | | 48 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | IL2RG CL E G H | 3561 | 6010 | OMIM:312863 | Combined immunodeficiency, X-linked | | | | 48 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | IL2RG CL E G H | 3561 | 6010 | OMIM:300400 | Severe combined immunodeficiency, X-linked | | | | 48 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | IL2RG CL E G H | 3561 | 6010 | OMIM:300400 | Severe combined immunodeficiency, X-linked | | | | 48 | | |
HP:0004332 | HP:0003347 | Impaired lymphocyte transformation with phytohemagglutinin | 1 | IL2RG CL E G H | 3561 | 6010 | OMIM:300400 | Severe combined immunodeficiency, X-linked | | | | 48 | | |
HP:0004332 | 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:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | | | | 48 | | |
HP:0004332 | HP:0012176 | Abnormal natural killer cell morphology | 1 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | | | | 48 | | |
HP:0004332 | 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:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | IL6R CL E G H | 3570 | 6019 | OMIM:618944 | HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5 | | | | 1 | | |
HP:0004332 | HP:0012176 | Abnormal natural killer cell morphology | 1 | IL6ST CL E G H | 3572 | 6021 | OMIM:619752 | HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A | | | | | | |
HP:0004332 | 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:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | IL7 CL E G H | 3574 | 6023 | OMIM:618309 | EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5 | | | | | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | IL7 CL E G H | 3574 | 6023 | OMIM:618309 | EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5 | | | | | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | IL7R CL E G H | 3575 | 6024 | OMIM:608971 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive | | | | 94 | | |
HP:0004332 | 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:0004332 | 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:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | | | | 94 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | IRAK1 CL E G H | 3654 | 6112 | ORPHA:93552 | Pediatric systemic lupus erythematosus | | | | | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:1572 | Common variable immunodeficiency | | | | 4 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | IRF2BP2 CL E G H | 359948 | 21729 | OMIM:617765 | IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14 | | | | 4 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | IRF2BP2 CL E G H | 359948 | 21729 | OMIM:617765 | IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14 | | | | 4 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | ITK CL E G H | 3702 | 6171 | OMIM:613011 | LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1 | | | | 51 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | ITK CL E G H | 3702 | 6171 | OMIM:613011 | LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1 | | | | 51 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0004332 | 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:0004332 | HP:0012176 | Abnormal natural killer cell morphology | 1 | JAK3 CL E G H | 3718 | 6193 | OMIM:600802 | Scid, autosomal recessive, T-Negative/b-Positive type | | | | 140 | | |
HP:0004332 | HP:0003347 | Impaired lymphocyte transformation with phytohemagglutinin | 1 | JAK3 CL E G H | 3718 | 6193 | OMIM:600802 | Scid, autosomal recessive, T-Negative/b-Positive type | | | | 140 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | JAK3 CL E G H | 3718 | 6193 | OMIM:600802 | Scid, autosomal recessive, T-Negative/b-Positive type | | | | 140 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | | | | 140 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | | | | 140 | | |
HP:0004332 | 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:0004332 | HP:0003347 | Impaired lymphocyte transformation with phytohemagglutinin | 1 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | HP:0040281 - Very frequent | | | 140 | | |
HP:0004332 | HP:0012176 | Abnormal natural killer cell morphology | 1 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | | | | 140 | | |
HP:0004332 | HP:0003347 | Impaired lymphocyte transformation with phytohemagglutinin | 1 | KLHDC8B CL E G H | 200942 | 28557 | OMIM:236000 | Lymphoma, hodgkin | . | | | 1 | | |
HP:0004332 | HP:0012176 | Abnormal natural killer cell morphology | 1 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0004332 | 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:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | LAT CL E G H | 27040 | 18874 | OMIM:617514 | Immunodeficiency 52 | | | | 2 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | LAT CL E G H | 27040 | 18874 | OMIM:617514 | Immunodeficiency 52 | | | | 2 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | LCK CL E G H | 3932 | 6524 | OMIM:615758 | Immunodeficiency 22 | | | | 1 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | LCK CL E G H | 3932 | 6524 | OMIM:615758 | Immunodeficiency 22 | | | | 1 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | | | | 47 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | | | | 47 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | | | | 46 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | | | | 46 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | LIG1 CL E G H | 3978 | 6598 | OMIM:619774 | IMMUNODEFICIENCY 96; IMD96 | | | | 9 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | LIG1 CL E G H | 3978 | 6598 | OMIM:619774 | IMMUNODEFICIENCY 96; IMD96 | | | | 9 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | LMNB2 CL E G H | 84823 | 6638 | ORPHA:79087 | Acquired partial lipodystrophy | | | | 11 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0004332 | HP:0001922 | Vacuolated lymphocytes | 1 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040281 - Very frequent | | | 239 | | |
HP:0004332 | HP:0012176 | Abnormal natural killer cell morphology | 1 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040282 - Frequent | | | 239 | | |
HP:0004332 | 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:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | MAGT1 CL E G H | 84061 | 28880 | OMIM:300853 | IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN | | | | 17 | | |
HP:0004332 | HP:0001922 | Vacuolated lymphocytes | 1 | MAN2B1 CL E G H | 4125 | 6826 | OMIM:248500 | Alpha-mannosidosis | . | | | 136 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | MCM10 CL E G H | 55388 | 18043 | OMIM:619313 | IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80 | | | | | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | MCM10 CL E G H | 55388 | 18043 | OMIM:619313 | IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80 | | | | | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | MCM10 CL E G H | 55388 | 18043 | OMIM:619313 | IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80 | | | | | | |
HP:0004332 | HP:0003347 | Impaired lymphocyte transformation with phytohemagglutinin | 1 | MCM10 CL E G H | 55388 | 18043 | OMIM:619313 | IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80 | | | | | | |
HP:0004332 | HP:0012176 | Abnormal natural killer cell morphology | 1 | MCM10 CL E G H | 55388 | 18043 | OMIM:619313 | IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80 | | | | | | |
HP:0004332 | HP:0012176 | Abnormal natural killer cell morphology | 1 | MCM4 CL E G H | 4173 | 6947 | OMIM:609981 | Immunodeficiency 54 | | | | 69 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | MDM4 CL E G H | 4194 | 6974 | OMIM:618849 | BONE MARROW FAILURE SYNDROME 6; BMFS6 | | | | 1 | | |
HP:0004332 | HP:0003347 | Impaired lymphocyte transformation with phytohemagglutinin | 1 | MGAT2 CL E G H | 4247 | 7045 | ORPHA:79329 | MGAT2-CDG | HP:0040283 - Occasional | | | 39 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | MS4A1 CL E G H | 931 | 7315 | ORPHA:1572 | Common variable immunodeficiency | | | | 1 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | MSN CL E G H | 4478 | 7373 | OMIM:300988 | Immunodeficiency 50 | | | | 2 | | |
HP:0004332 | 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:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | MYC CL E G H | 4609 | 7553 | ORPHA:543 | Burkitt lymphoma | | | | 11 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | MYC CL E G H | 4609 | 7553 | ORPHA:543 | Burkitt lymphoma | | | | 11 | | |
HP:0004332 | HP:0003347 | Impaired lymphocyte transformation with phytohemagglutinin | 1 | MYD88 CL E G H | 4615 | 7562 | OMIM:153600 | Macroglobulinemia, Waldenstrom, somatic | . | | | 9 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | MYD88 CL E G H | 4615 | 7562 | OMIM:612260 | MYD88 DEFICIENCY; MYD88D | | | | 9 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | MYD88 CL E G H | 4615 | 7562 | OMIM:612260 | MYD88 DEFICIENCY; MYD88D | | | | 9 | | |
HP:0004332 | 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:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | MYSM1 CL E G H | 114803 | 29401 | ORPHA:508542 | Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome | | | | | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | NBN CL E G H | 4683 | 7652 | OMIM:251260 | Nijmegen breakage syndrome | | | | 706 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | NBN CL E G H | 4683 | 7652 | OMIM:251260 | Nijmegen breakage syndrome | | | | 706 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | NBN CL E G H | 4683 | 7652 | OMIM:251260 | Nijmegen breakage syndrome | | | | 706 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | NCKAP1L CL E G H | 3071 | 4862 | OMIM:618982 | IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72 | | | | | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | NCKAP1L CL E G H | 3071 | 4862 | OMIM:618982 | IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72 | | | | | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | NCKAP1L CL E G H | 3071 | 4862 | OMIM:618982 | IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72 | | | | | | |
HP:0004332 | HP:0001922 | Vacuolated lymphocytes | 1 | NEU1 CL E G H | 4758 | 7758 | OMIM:256550 | Neuraminidase deficiency | . | | | 43 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | NFKB1 CL E G H | 4790 | 7794 | ORPHA:1572 | Common variable immunodeficiency | | | | 7 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:1572 | Common variable immunodeficiency | | | | 11 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | | | | 11 | | |
HP:0004332 | 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:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | NHEJ1 CL E G H | 79840 | 25737 | ORPHA:169079 | Cernunnos-XLF deficiency | | | | 20 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | NHEJ1 CL E G H | 79840 | 25737 | ORPHA:169079 | Cernunnos-XLF deficiency | | | | 20 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | NHEJ1 CL E G H | 79840 | 25737 | ORPHA:169079 | Cernunnos-XLF deficiency | | | | 20 | | |
HP:0004332 | HP:0012176 | Abnormal natural killer cell morphology | 1 | NLRC4 CL E G H | 58484 | 16412 | OMIM:616050 | AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC | | | | 30 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0004332 | 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:0004332 | 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:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | NSMCE3 CL E G H | 56160 | 7677 | OMIM:617241 | LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS | | | | 2 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | OTULIN CL E G H | 90268 | 25118 | OMIM:617099 | AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS | | | | 3 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | OTULIN CL E G H | 90268 | 25118 | OMIM:617099 | AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS | | | | 3 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | PGM3 CL E G H | 5238 | 8907 | OMIM:615816 | Immunodeficiency 23 | | | | 15 | | |
HP:0004332 | HP:0012176 | Abnormal natural killer cell morphology | 1 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | | | | 15 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | | | | 15 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | | | | 15 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | PI4KA CL E G H | 5297 | 8983 | OMIM:619708 | GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2 | | | | 11 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0004332 | HP:0012176 | Abnormal natural killer cell morphology | 1 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | PIK3CD CL E G H | 5293 | 8977 | OMIM:615513 | IMMUNODEFICIENCY 14; IMD14 | | | | 9 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | PIK3CD CL E G H | 5293 | 8977 | OMIM:615513 | IMMUNODEFICIENCY 14; IMD14 | | | | 9 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | PIK3CD CL E G H | 5293 | 8977 | OMIM:615513 | IMMUNODEFICIENCY 14; IMD14 | | | | 9 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | PIK3CD CL E G H | 5293 | 8977 | OMIM:619281 | IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B | | | | 9 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | PIK3CD CL E G H | 5293 | 8977 | OMIM:619281 | IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B | | | | 9 | | |
HP:0004332 | HP:0012176 | Abnormal natural killer cell morphology | 1 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | | | | 43 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | | | | 43 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | | | | 43 | | |
HP:0004332 | 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:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | PLCG2 CL E G H | 5336 | 9066 | OMIM:614878 | Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated | | | | 21 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | PNP CL E G H | 4860 | 7892 | OMIM:613179 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | | | | 52 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | PNP CL E G H | 4860 | 7892 | ORPHA:760 | Purine nucleoside phosphorylase deficiency | | | | 52 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | PNP CL E G H | 4860 | 7892 | ORPHA:760 | Purine nucleoside phosphorylase deficiency | HP:0040281 - Very frequent | | | 52 | | |
HP:0004332 | HP:0001922 | Vacuolated lymphocytes | 1 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:565612 | Triglyceride deposit cardiomyovasculopathy | HP:0040281 - Very frequent | | | 65 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | POMP CL E G H | 51371 | 20330 | OMIM:618048 | Proteasome-Associated autoinflammatory syndrome 2 | | | | 2 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | POMP CL E G H | 51371 | 20330 | OMIM:618048 | Proteasome-Associated autoinflammatory syndrome 2 | | | | 2 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | POMP CL E G H | 51371 | 20330 | OMIM:618048 | Proteasome-Associated autoinflammatory syndrome 2 | | | | 2 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | PRIM1 CL E G H | 5557 | 9369 | OMIM:620005 | | | | | | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | PRIM1 CL E G H | 5557 | 9369 | OMIM:620005 | | | | | | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 10 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 10 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 10 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | PRKCD CL E G H | 5580 | 9399 | ORPHA:1572 | Common variable immunodeficiency | | | | 10 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | PSMB4 CL E G H | 5692 | 9541 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | | | | | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | PSMB9 CL E G H | 5698 | 9546 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | | | | | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | PTEN CL E G H | 5728 | 9588 | OMIM:158350 | Cowden syndrome 1 | | | | 948 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | PTEN CL E G H | 5728 | 9588 | OMIM:605309 | Macrocephaly/autism syndrome | | | | 948 | | |
HP:0004332 | HP:0012176 | Abnormal natural killer cell morphology | 1 | PTPRC CL E G H | 5788 | 9666 | OMIM:619924 | | | | | 25 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | PTPRC CL E G H | 5788 | 9666 | OMIM:619924 | | | | | 25 | | |
HP:0004332 | HP:0003347 | Impaired lymphocyte transformation with phytohemagglutinin | 1 | PTPRC CL E G H | 5788 | 9666 | OMIM:619924 | | | | | 25 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | PTPRC CL E G H | 5788 | 9666 | OMIM:619924 | | | | | 25 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | PTPRC CL E G H | 5788 | 9666 | OMIM:619924 | | | | | 25 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0004332 | 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:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0004332 | 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:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | RAC2 CL E G H | 5880 | 9802 | OMIM:618987 | IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C | | | | 9 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | RAC2 CL E G H | 5880 | 9802 | OMIM:618987 | IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C | | | | 9 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | RAC2 CL E G H | 5880 | 9802 | OMIM:608203 | NEUTROPHIL IMMUNODEFICIENCY SYNDROME | | | | 9 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | RAC2 CL E G H | 5880 | 9802 | OMIM:608203 | NEUTROPHIL IMMUNODEFICIENCY SYNDROME | | | | 9 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | RAG1 CL E G H | 5896 | 9831 | OMIM:233650 | Combined cellular and humoral immune defects with granulomas | | | | 127 | | |
HP:0004332 | 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:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | RAG1 CL E G H | 5896 | 9831 | OMIM:233650 | Combined cellular and humoral immune defects with granulomas | | | | 127 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | RAG1 CL E G H | 5896 | 9831 | ORPHA:231154 | Combined immunodeficiency due to partial RAG1 deficiency | | | | 127 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | RAG1 CL E G H | 5896 | 9831 | ORPHA:231154 | Combined immunodeficiency due to partial RAG1 deficiency | | | | 127 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | RAG1 CL E G H | 5896 | 9831 | ORPHA:231154 | Combined immunodeficiency due to partial RAG1 deficiency | | | | 127 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | RAG1 CL E G H | 5896 | 9831 | OMIM:603554 | Omenn syndrome | | | | 127 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | RAG1 CL E G H | 5896 | 9831 | OMIM:603554 | Omenn syndrome | | | | 127 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | | | | 127 | | |
HP:0004332 | 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:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | | | | 127 | | |
HP:0004332 | HP:0012176 | Abnormal natural killer cell morphology | 1 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | | | | 127 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | RAG1 CL E G H | 5896 | 9831 | OMIM:601457 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | | | 127 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | RAG1 CL E G H | 5896 | 9831 | OMIM:601457 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | | | 127 | | |
HP:0004332 | 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:0004332 | 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:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | RAG2 CL E G H | 5897 | 9832 | OMIM:233650 | Combined cellular and humoral immune defects with granulomas | | | | 50 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | RAG2 CL E G H | 5897 | 9832 | OMIM:233650 | Combined cellular and humoral immune defects with granulomas | | | | 50 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | RAG2 CL E G H | 5897 | 9832 | OMIM:603554 | Omenn syndrome | | | | 50 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | RAG2 CL E G H | 5897 | 9832 | OMIM:603554 | Omenn syndrome | | | | 50 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | | | | 50 | | |
HP:0004332 | 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:0004332 | HP:0012176 | Abnormal natural killer cell morphology | 1 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | | | | 50 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | | | | 50 | | |
HP:0004332 | 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:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | RAG2 CL E G H | 5897 | 9832 | OMIM:601457 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | | | 50 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | RAG2 CL E G H | 5897 | 9832 | OMIM:601457 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | | | 50 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | REL CL E G H | 5966 | 9954 | OMIM:619652 | IMMUNODEFICIENCY 92; IMD92 | | | | 1 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | REL CL E G H | 5966 | 9954 | OMIM:619652 | IMMUNODEFICIENCY 92; IMD92 | | | | 1 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | RFX5 CL E G H | 5993 | 9986 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 38 | | |
HP:0004332 | 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:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | RFXANK CL E G H | 8625 | 9987 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 26 | | |
HP:0004332 | 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:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | RFXAP CL E G H | 5994 | 9988 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 34 | | |
HP:0004332 | 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:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | RIPK1 CL E G H | 8737 | 10019 | OMIM:618108 | IMMUNODEFICIENCY 57; IMD57 | | | | | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | RIPK1 CL E G H | 8737 | 10019 | OMIM:618108 | IMMUNODEFICIENCY 57; IMD57 | | | | | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | RIPK1 CL E G H | 8737 | 10019 | OMIM:618108 | IMMUNODEFICIENCY 57; IMD57 | | | | | | |
HP:0004332 | HP:0012176 | Abnormal natural killer cell morphology | 1 | RIPK1 CL E G H | 8737 | 10019 | OMIM:618108 | IMMUNODEFICIENCY 57; IMD57 | | | | | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | RMRP CL E G H | 6023 | 10031 | OMIM:250250 | Cartilage-Hair hypoplasia | | | | 37 | | |
HP:0004332 | HP:0003347 | Impaired lymphocyte transformation with phytohemagglutinin | 1 | RMRP CL E G H | 6023 | 10031 | OMIM:250250 | Cartilage-Hair hypoplasia | . | | | 37 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | RNASEH2B CL E G H | 79621 | 25671 | OMIM:610181 | Aicardi-Goutieres syndrome 2 | | | | 34 | | |
HP:0004332 | 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:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | RPA1 CL E G H | 6117 | 10289 | OMIM:619767 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6 | | | | | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | RRAS2 CL E G H | 22800 | 17271 | OMIM:618624 | NOONAN SYNDROME 12; NS12 | | | | 1 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | | | | 8 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0004332 | HP:0012176 | Abnormal natural killer cell morphology | 1 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | SGPL1 CL E G H | 8879 | 10817 | OMIM:617575 | Nephrotic syndrome, type 14 | | | | 8 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | SH2D1A CL E G H | 4068 | 10820 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 37 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | | | | | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | | | | | | |
HP:0004332 | HP:0001922 | Vacuolated lymphocytes | 1 | SLC17A5 CL E G H | 26503 | 10933 | OMIM:269920 | Infantile sialic acid storage disease | . | | | 78 | | |
HP:0004332 | HP:0001922 | Vacuolated lymphocytes | 1 | SLC17A5 CL E G H | 26503 | 10933 | OMIM:604369 | Salla disease | . | | | 78 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | SLC39A7 CL E G H | 7922 | 4927 | OMIM:619693 | AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9 | | | | | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | SLC39A7 CL E G H | 7922 | 4927 | OMIM:619693 | AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9 | | | | | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | . | | | 74 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | | | | 74 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | | | | 74 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | | | | 74 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | SOCS1 CL E G H | 8651 | 19383 | OMIM:619375 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD | | | | 6 | | |
HP:0004332 | 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:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | | | | 49 | | |
HP:0004332 | 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:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | | | | 49 | | |
HP:0004332 | HP:0012176 | Abnormal natural killer cell morphology | 1 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | | | | 49 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | SPI1 CL E G H | 6688 | 11241 | OMIM:619707 | AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10 | | | | | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | SPI1 CL E G H | 6688 | 11241 | OMIM:619707 | AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10 | | | | | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | SPP1 CL E G H | 6696 | 11255 | ORPHA:93552 | Pediatric systemic lupus erythematosus | | | | | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | SPRED2 CL E G H | 200734 | 17722 | OMIM:619745 | NOONAN SYNDROME 14; NS14 | | | | | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | SRP54 CL E G H | 6729 | 11301 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | | | |
HP:0004332 | 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:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | 89 | | |
HP:0004332 | HP:0003347 | Impaired lymphocyte transformation with phytohemagglutinin | 1 | STAT1 CL E G H | 6772 | 11362 | OMIM:614162 | Immunodeficiency 31C | | | | 89 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | STAT1 CL E G H | 6772 | 11362 | OMIM:614162 | Immunodeficiency 31C | | | | 89 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | STAT2 CL E G H | 6773 | 11363 | OMIM:616636 | Immunodeficiency 44 | | | | 9 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | STAT4 CL E G H | 6775 | 11365 | ORPHA:93552 | Pediatric systemic lupus erythematosus | | | | 2 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | STING1 CL E G H | 340061 | 27962 | OMIM:615934 | STING-associated vasculopathy, infantile-onset | | | | | | |
HP:0004332 | 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:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0004332 | HP:0012176 | Abnormal natural killer cell morphology | 1 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | TBX2 CL E G H | 6909 | 11597 | OMIM:618223 | VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION | . | | | | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | TCF3 CL E G H | 6929 | 11633 | OMIM:616941 | Agammaglobulinemia 8, autosomal dominant | | | | 2 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | TCF3 CL E G H | 6929 | 11633 | OMIM:616941 | Agammaglobulinemia 8, autosomal dominant | | | | 2 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 82 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | TCN2 CL E G H | 6948 | 11653 | ORPHA:859 | Transcobalamin deficiency | | | | 57 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | TERC CL E G H | 7012 | 11727 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | | | | 48 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | TERT CL E G H | 7015 | 11730 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | | | | 238 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | TET2 CL E G H | 54790 | 25941 | OMIM:619126 | IMMUNODEFICIENCY 75; IMD75 | | | | 3 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | TET2 CL E G H | 54790 | 25941 | OMIM:619126 | IMMUNODEFICIENCY 75; IMD75 | | | | 3 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | TFR2 CL E G H | 7036 | 11762 | OMIM:604250 | Hemochromatosis, type 3 | | | | 67 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | TINF2 CL E G H | 26277 | 11824 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | | | | 60 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | TLR7 CL E G H | 51284 | 15631 | OMIM:301080 | | | | | | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | TNFAIP3 CL E G H | 7128 | 11896 | OMIM:616744 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL | | | | 26 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | TNFRSF13B CL E G H | 23495 | 18153 | ORPHA:1572 | Common variable immunodeficiency | | | | 32 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | TNFRSF13C CL E G H | 115650 | 17755 | ORPHA:1572 | Common variable immunodeficiency | | | | 12 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | TNFSF12 CL E G H | 8742 | 11927 | ORPHA:1572 | Common variable immunodeficiency | | | | 1 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | | | |
HP:0004332 | 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:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | TOM1 CL E G H | 10043 | 11982 | OMIM:619510 | IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85 | | | | | | |
HP:0004332 | HP:0012176 | Abnormal natural killer cell morphology | 1 | TOM1 CL E G H | 10043 | 11982 | OMIM:619510 | IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85 | | | | | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | TOM1 CL E G H | 10043 | 11982 | OMIM:619510 | IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85 | | | | | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | TOM1 CL E G H | 10043 | 11982 | OMIM:619510 | IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85 | | | | | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | TPP2 CL E G H | 7174 | 12016 | ORPHA:444463 | Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome | | | | | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | TRNT1 CL E G H | 51095 | 17341 | OMIM:616084 | SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD | | | | 28 | | |
HP:0004332 | 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:0004332 | HP:0003347 | Impaired lymphocyte transformation with phytohemagglutinin | 1 | TTC7A CL E G H | 57217 | 19750 | OMIM:243150 | Gastrointestinal defects and immunodeficiency syndrome | | | | 26 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | TTC7A CL E G H | 57217 | 19750 | OMIM:243150 | Gastrointestinal defects and immunodeficiency syndrome | | | | 26 | | |
HP:0004332 | 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:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | UNC119 CL E G H | 9094 | 12565 | OMIM:615518 | IMMUNODEFICIENCY 13; IMD13 | | | | 30 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | UNC119 CL E G H | 9094 | 12565 | OMIM:615518 | IMMUNODEFICIENCY 13; IMD13 | | | | 30 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | UNC119 CL E G H | 9094 | 12565 | OMIM:615518 | IMMUNODEFICIENCY 13; IMD13 | | | | 30 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | WAS CL E G H | 7454 | 12731 | OMIM:300299 | Neutropenia, severe congenital, X-linked | | | | 65 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | WAS CL E G H | 7454 | 12731 | OMIM:300299 | Neutropenia, severe congenital, X-linked | | | | 65 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0004332 | HP:0003347 | Impaired lymphocyte transformation with phytohemagglutinin | 1 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0004332 | HP:0002971 | Absent microvilli on the surface of peripheral blood lymphocytes | 1 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | . | | | 65 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0004332 | HP:0002846 | Abnormal B cell morphology | 1 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | | | | 6 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | WIPF1 CL E G H | 7456 | 12736 | OMIM:614493 | WISKOTT-ALDRICH SYNDROME 2; WAS2 | | | | 6 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | WIPF1 CL E G H | 7456 | 12736 | OMIM:614493 | WISKOTT-ALDRICH SYNDROME 2; WAS2 | | | | 6 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | XIAP CL E G H | 331 | 592 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 81 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | XRCC4 CL E G H | 7518 | 12831 | OMIM:616541 | Short stature, microcephaly, and endocrine dysfunction | | | | 9 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | ZAP70 CL E G H | 7535 | 12858 | OMIM:617006 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2 | | | | 46 | | |
HP:0004332 | HP:0003347 | Impaired lymphocyte transformation with phytohemagglutinin | 1 | ZAP70 CL E G H | 7535 | 12858 | OMIM:617006 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2 | | | | 46 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | ZAP70 CL E G H | 7535 | 12858 | OMIM:617006 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2 | | | | 46 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | | | | 46 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | | | | 46 | | |
HP:0004332 | HP:0002843 | Abnormal T cell morphology | 1 | ZAP70 CL E G H | 7535 | 12858 | OMIM:269840 | SELECTIVE T-CELL DEFECT | | | | 46 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | ZAP70 CL E G H | 7535 | 12858 | OMIM:269840 | SELECTIVE T-CELL DEFECT | | | | 46 | | |
HP:0004332 | HP:0040088 | Abnormal lymphocyte count | 1 | ZBTB24 CL E G H | 9841 | 21143 | ORPHA:2268 | ICF syndrome | | | | 9 | | |
HP:0004332 | HP:0030333 | Abnormal alpha-beta T cell morphology | 2 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0025617 | Abnormal plasma cell count | 2 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:4000034 | Infection-ssociated lymphopenia | 2 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | | | | 16 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | | | | 16 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0001888 | Lymphopenia | 2 | ADA2 CL E G H | 51816 | 1839 | OMIM:182410 | Sneddon syndrome | | | | 22 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | ADAMTS3 CL E G H | 9508 | 219 | ORPHA:2136 | Hennekam syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | AK2 CL E G H | 204 | 362 | OMIM:267500 | Reticular dysgenesia | | | | 19 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | | | | 68 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | | | | 68 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0004332 | HP:0040089 | Abnormal natural killer cell count | 2 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | ARHGEF1 CL E G H | 9138 | 681 | OMIM:618459 | Immunodeficiency 62 | | | | | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | ARHGEF1 CL E G H | 9138 | 681 | OMIM:618459 | Immunodeficiency 62 | | | | | | |
HP:0004332 | HP:0100827 | Lymphocytosis | 2 | ARPC1B CL E G H | 10095 | 704 | OMIM:617718 | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | . | | | | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | ATM CL E G H | 472 | 795 | ORPHA:100 | Ataxia-telangiectasia | HP:0040281 - Very frequent | | | 3267 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | . | | | 3267 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | | | | 3267 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | ATP11A CL E G H | 23250 | 13552 | OMIM:619851 | LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24 | | | | | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | ATP11A CL E G H | 23250 | 13552 | OMIM:619851 | LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24 | | | | | | |
HP:0004332 | 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:0004332 | HP:0001888 | Lymphopenia | 2 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | B2M CL E G H | 567 | 914 | OMIM:241600 | Immunodeficiency 43 | | | | 8 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | B2M CL E G H | 567 | 914 | OMIM:241600 | Immunodeficiency 43 | | | | 8 | | |
HP:0004332 | HP:0040089 | Abnormal natural killer cell count | 2 | B2M CL E G H | 567 | 914 | OMIM:241600 | Immunodeficiency 43 | | | | 8 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | BACH2 CL E G H | 60468 | 14078 | OMIM:618394 | IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60 | | | | | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | BCL10 CL E G H | 8915 | 989 | OMIM:616098 | IMMUNODEFICIENCY 37; IMD37 | | | | 18 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | BCL11B CL E G H | 64919 | 13222 | OMIM:617237 | Immunodeficiency 49 | . | | | 3 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | | | | 314 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | BTK CL E G H | 695 | 1133 | OMIM:300755 | Agammaglobulinemia, X-linked | | | | 109 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | BTK CL E G H | 695 | 1133 | OMIM:300755 | Agammaglobulinemia, X-linked | | | | 109 | | |
HP:0004332 | 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:0004332 | HP:0001888 | Lymphopenia | 2 | BTK CL E G H | 695 | 1133 | OMIM:307200 | Isolated growth hormone deficiency, type III, with agammaglobulinemia | | | | 109 | | |
HP:0004332 | HP:0100827 | Lymphocytosis | 2 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | | | | 1 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | | | | 1 | | |
HP:0004332 | 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:0004332 | 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:0004332 | HP:0011839 | Abnormal T cell count | 2 | CARD11 CL E G H | 84433 | 16393 | OMIM:615206 | Card11 immunodeficiency | | | | 45 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 87 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 87 | | |
HP:0004332 | HP:0100827 | Lymphocytosis | 2 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | | | | 87 | | |
HP:0004332 | HP:0100827 | Lymphocytosis | 2 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | | | | 87 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | | | | 87 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | CASP8 CL E G H | 841 | 1509 | OMIM:607271 | CASPASE 8 DEFICIENCY | | | | 37 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | CCBE1 CL E G H | 147372 | 29426 | ORPHA:2136 | Hennekam syndrome | HP:0040281 - Very frequent | | | 147 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | CD19 CL E G H | 930 | 1633 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 38 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | CD19 CL E G H | 930 | 1633 | OMIM:613493 | IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3 | | | | 38 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | CD247 CL E G H | 919 | 1677 | OMIM:610163 | IMMUNODEFICIENCY 25; IMD25 | | | | 8 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | CD247 CL E G H | 919 | 1677 | OMIM:610163 | IMMUNODEFICIENCY 25; IMD25 | | | | 8 | | |
HP:0004332 | 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:0004332 | 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:0004332 | HP:0001888 | Lymphopenia | 2 | CD3D CL E G H | 915 | 1673 | OMIM:615617 | Immunodeficiency 19 | . | | | 18 | | |
HP:0004332 | 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:0004332 | 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:0004332 | HP:0001888 | Lymphopenia | 2 | CD3E CL E G H | 916 | 1674 | OMIM:615615 | Immunodeficiency 18 | HP:0040284 - Very rare | | | 24 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | CD3E CL E G H | 916 | 1674 | OMIM:615615 | Immunodeficiency 18 | | | | 24 | | |
HP:0004332 | 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:0004332 | 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:0004332 | HP:0001888 | Lymphopenia | 2 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | | | | 19 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | | | | 19 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | CD4 CL E G H | 920 | 1678 | OMIM:619238 | IMMUNODEFICIENCY 79; IMD79 | | | | 1 | | |
HP:0004332 | HP:0040089 | Abnormal natural killer cell count | 2 | CD70 CL E G H | 970 | 11937 | OMIM:618261 | LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3 | | | | | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | CD79B CL E G H | 974 | 1699 | OMIM:612692 | Agammaglobulinemia 6, autosomal recessive | | | | 6 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | CD79B CL E G H | 974 | 1699 | OMIM:612692 | Agammaglobulinemia 6, autosomal recessive | | | | 6 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | CD81 CL E G H | 975 | 1701 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | CD8A CL E G H | 925 | 1706 | OMIM:608957 | Cd8 deficiency, familial | | | | 4 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | CD8A CL E G H | 925 | 1706 | OMIM:608957 | Cd8 deficiency, familial | | | | 4 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | CDCA7 CL E G H | 83879 | 14628 | ORPHA:2268 | ICF syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | . | | | 515 | | |
HP:0004332 | 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:0004332 | HP:0001888 | Lymphopenia | 2 | CIITA CL E G H | 4261 | 7067 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 118 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | CLPB CL E G H | 81570 | 30664 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 38 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | CORO1A CL E G H | 11151 | 2252 | OMIM:615401 | Immunodeficiency 8 | . | | | 7 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | CR2 CL E G H | 1380 | 2336 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 10 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | CTLA4 CL E G H | 1493 | 2505 | OMIM:616100 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5 | | | | 10 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | CTNNBL1 CL E G H | 56259 | 15879 | OMIM:619846 | | | | | | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | CTNNBL1 CL E G H | 56259 | 15879 | OMIM:619846 | | | | | | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | CTNNBL1 CL E G H | 56259 | 15879 | OMIM:619846 | | | | | | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | CTPS1 CL E G H | 1503 | 2519 | OMIM:615897 | IMMUNODEFICIENCY 24; IMD24 | | | | 2 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | CTPS1 CL E G H | 1503 | 2519 | OMIM:615897 | IMMUNODEFICIENCY 24; IMD24 | | | | 2 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | CTPS1 CL E G H | 1503 | 2519 | OMIM:615897 | IMMUNODEFICIENCY 24; IMD24 | | | | 2 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | CXCR4 CL E G H | 7852 | 2561 | ORPHA:51636 | WHIM syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | CYBC1 CL E G H | 79415 | 28672 | OMIM:618935 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5 | | | | | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:603554 | Omenn syndrome | | | | 94 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:603554 | Omenn syndrome | | | | 94 | | |
HP:0004332 | 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:0004332 | 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:0004332 | HP:0001888 | Lymphopenia | 2 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:602450 | Severe combined immunodeficiency with sensitivity to ionizing radiation | | | | 94 | | |
HP:0004332 | 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:0004332 | HP:0001888 | Lymphopenia | 2 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | DNMT3B CL E G H | 1789 | 2979 | ORPHA:2268 | ICF syndrome | HP:0040282 - Frequent | | | 79 | | |
HP:0004332 | HP:0040089 | Abnormal natural killer cell count | 2 | DNMT3B CL E G H | 1789 | 2979 | OMIM:242860 | Immunodeficiency-Centromeric instability-facial anomalies syndrome | | | | 79 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | DNMT3B CL E G H | 1789 | 2979 | OMIM:242860 | Immunodeficiency-Centromeric instability-facial anomalies syndrome | | | | 79 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | DNMT3B CL E G H | 1789 | 2979 | OMIM:242860 | Immunodeficiency-Centromeric instability-facial anomalies syndrome | | | | 79 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | | | | 6 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | . | | | 6 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | DOCK8 CL E G H | 81704 | 19191 | ORPHA:217390 | Combined immunodeficiency due to DOCK8 deficiency | | | | 217 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | DOCK8 CL E G H | 81704 | 19191 | ORPHA:217390 | Combined immunodeficiency due to DOCK8 deficiency | | | | 217 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | DOCK8 CL E G H | 81704 | 19191 | ORPHA:217390 | Combined immunodeficiency due to DOCK8 deficiency | | | | 217 | | |
HP:0004332 | 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:0004332 | HP:0040089 | Abnormal natural killer cell count | 2 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | | | | 217 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | | | | 217 | | |
HP:0004332 | HP:0100827 | Lymphocytosis | 2 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | ELANE CL E G H | 1991 | 3309 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 79 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | ELANE CL E G H | 1991 | 3309 | ORPHA:2686 | Cyclic neutropenia | HP:0040283 - Occasional | | | 79 | | |
HP:0004332 | 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:0004332 | HP:0100827 | Lymphocytosis | 2 | ELF4 CL E G H | 2000 | 3319 | OMIM:301074 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2 | | | | 1 | | |
HP:0004332 | HP:0040089 | Abnormal natural killer cell count | 2 | ELF4 CL E G H | 2000 | 3319 | OMIM:301074 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2 | | | | 1 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | EXTL3 CL E G H | 2137 | 3518 | OMIM:617425 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | . | | | 3 | | |
HP:0004332 | 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:0004332 | 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:0004332 | HP:0011839 | Abnormal T cell count | 2 | FAS CL E G H | 355 | 11920 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0004332 | HP:0100827 | Lymphocytosis | 2 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 59 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 59 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | FASLG CL E G H | 356 | 11936 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0004332 | HP:0100827 | Lymphocytosis | 2 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | FAT4 CL E G H | 79633 | 23109 | ORPHA:2136 | Hennekam syndrome | HP:0040281 - Very frequent | | | 114 | | |
HP:0004332 | HP:0040089 | Abnormal natural killer cell count | 2 | FCGR3A CL E G H | 2214 | 3619 | OMIM:615707 | Immunodeficiency 20 | | | | 4 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | FCHO1 CL E G H | 23149 | 29002 | OMIM:619164 | IMMUNODEFICIENCY 76; IMD76 | | | | | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | FCHO1 CL E G H | 23149 | 29002 | OMIM:619164 | IMMUNODEFICIENCY 76; IMD76 | | | | | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | FCHO1 CL E G H | 23149 | 29002 | OMIM:619164 | IMMUNODEFICIENCY 76; IMD76 | | | | | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | FNIP1 CL E G H | 96459 | 29418 | OMIM:619705 | IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93 | | | | 1 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | FNIP1 CL E G H | 96459 | 29418 | OMIM:619705 | IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93 | | | | 1 | | |
HP:0004332 | HP:0100827 | Lymphocytosis | 2 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0004332 | 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:0004332 | HP:0001888 | Lymphopenia | 2 | FOXN1 CL E G H | 8456 | 12765 | ORPHA:169095 | Severe combined immunodeficiency due to FOXN1 deficiency | | | | 54 | | |
HP:0004332 | 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:0004332 | HP:0001888 | Lymphopenia | 2 | FOXN1 CL E G H | 8456 | 12765 | OMIM:601705 | T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY | | | | 54 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0001888 | Lymphopenia | 2 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | . | | | 37 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | GATA2 CL E G H | 2624 | 4171 | OMIM:614172 | Immunodeficiency 21 | . | | | 137 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | GATA2 CL E G H | 2624 | 4171 | OMIM:614038 | Lymphedema, primary, with myelodysplasia | | | | 137 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | GFI1 CL E G H | 2672 | 4237 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 56 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | GFI1 CL E G H | 2672 | 4237 | OMIM:613107 | Neutropenia, severe congenital, 2, autosomal dominant | | | | 56 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | GFI1 CL E G H | 2672 | 4237 | OMIM:613107 | Neutropenia, severe congenital, 2, autosomal dominant | | | | 56 | | |
HP:0004332 | HP:0040089 | Abnormal natural killer cell count | 2 | GINS1 CL E G H | 9837 | 28980 | OMIM:617827 | Immunodeficiency 55 | | | | | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | GINS1 CL E G H | 9837 | 28980 | OMIM:617827 | Immunodeficiency 55 | | | | | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | GTF2H5 CL E G H | 404672 | 21157 | OMIM:616395 | Trichothiodystrophy 3, photosensitive | | | | 3 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | HELLS CL E G H | 3070 | 4861 | ORPHA:2268 | ICF syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:133 | Chronic beryllium disease | | | | 1 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | | | | 2 | | |
HP:0004332 | HP:0100827 | Lymphocytosis | 2 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | | | | 2 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | HYOU1 CL E G H | 10525 | 16931 | OMIM:233600 | Immunodeficiency 59 and hypoglycemia | | | | | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | ICOS CL E G H | 29851 | 5351 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 32 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | | | | 32 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | | | | 32 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | IFIH1 CL E G H | 64135 | 18873 | OMIM:619773 | IMMUNODEFICIENCY 95; IMD95 | | | | 28 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | IGHM CL E G H | 3507 | 5541 | OMIM:601495 | Agammaglobulinemia 1, autosomal recessive | | | | 7 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | IGHM CL E G H | 3507 | 5541 | OMIM:601495 | Agammaglobulinemia 1, autosomal recessive | | | | 7 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | IGLL1 CL E G H | 3543 | 5870 | OMIM:613500 | Agammaglobulinemia 2, autosomal recessive | | | | 3 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | IGLL1 CL E G H | 3543 | 5870 | OMIM:613500 | Agammaglobulinemia 2, autosomal recessive | | | | 3 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | IKBKG CL E G H | 8517 | 5961 | OMIM:301081 | | | | | 52 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | IKBKG CL E G H | 8517 | 5961 | OMIM:301081 | | | | | 52 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | IKZF1 CL E G H | 10320 | 13176 | OMIM:616873 | IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13 | | | | 8 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | IKZF1 CL E G H | 10320 | 13176 | OMIM:616873 | IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13 | | | | 8 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | IKZF3 CL E G H | 22806 | 13178 | OMIM:619437 | IMMUNODEFICIENCY 84; IMD84 | | | | | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | IKZF3 CL E G H | 22806 | 13178 | OMIM:619437 | IMMUNODEFICIENCY 84; IMD84 | | | | | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | IL21 CL E G H | 59067 | 6005 | OMIM:615767 | IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11 | | | | 3 | | |
HP:0004332 | 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:0004332 | HP:0001888 | Lymphopenia | 2 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0004332 | 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:0004332 | HP:0011839 | Abnormal T cell count | 2 | IL2RB CL E G H | 3560 | 6009 | OMIM:618495 | Immunodeficiency 63 with lymphoproliferation and autoimmunity | | | | | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | IL2RG CL E G H | 3561 | 6010 | OMIM:312863 | Combined immunodeficiency, X-linked | | | | 48 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | IL2RG CL E G H | 3561 | 6010 | OMIM:312863 | Combined immunodeficiency, X-linked | | | | 48 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | IL2RG CL E G H | 3561 | 6010 | OMIM:300400 | Severe combined immunodeficiency, X-linked | | | | 48 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | IL2RG CL E G H | 3561 | 6010 | OMIM:300400 | Severe combined immunodeficiency, X-linked | | | | 48 | | |
HP:0004332 | HP:0040089 | Abnormal natural killer cell count | 2 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | | | | 48 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0001888 | Lymphopenia | 2 | IL6ST CL E G H | 3572 | 6021 | OMIM:619752 | HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A | | | | | | |
HP:0004332 | HP:0040089 | Abnormal natural killer cell count | 2 | IL6ST CL E G H | 3572 | 6021 | OMIM:619752 | HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A | | | | | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | IL7 CL E G H | 3574 | 6023 | OMIM:618309 | EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5 | | | | | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | IL7 CL E G H | 3574 | 6023 | OMIM:618309 | EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5 | | | | | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0001888 | Lymphopenia | 2 | IRAK1 CL E G H | 3654 | 6112 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040282 - Frequent | | | | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 4 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | IRF2BP2 CL E G H | 359948 | 21729 | OMIM:617765 | IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14 | | | | 4 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | ITK CL E G H | 3702 | 6171 | OMIM:613011 | LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1 | | | | 51 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | ITK CL E G H | 3702 | 6171 | OMIM:613011 | LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1 | | | | 51 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0004332 | HP:0040089 | Abnormal natural killer cell count | 2 | JAK3 CL E G H | 3718 | 6193 | OMIM:600802 | Scid, autosomal recessive, T-Negative/b-Positive type | | | | 140 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | JAK3 CL E G H | 3718 | 6193 | OMIM:600802 | Scid, autosomal recessive, T-Negative/b-Positive type | | | | 140 | | |
HP:0004332 | 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:0004332 | HP:0040089 | Abnormal natural killer cell count | 2 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | | | | 140 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0010975 | Abnormal B cell count | 2 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0004332 | HP:0040089 | Abnormal natural killer cell count | 2 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0004332 | HP:0100827 | Lymphocytosis | 2 | KRAS CL E G H | 3845 | 6407 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | . | | | 196 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | LAT CL E G H | 27040 | 18874 | OMIM:617514 | Immunodeficiency 52 | | | | 2 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | LAT CL E G H | 27040 | 18874 | OMIM:617514 | Immunodeficiency 52 | | | | 2 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | LCK CL E G H | 3932 | 6524 | OMIM:615758 | Immunodeficiency 22 | | | | 1 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | LCK CL E G H | 3932 | 6524 | OMIM:615758 | Immunodeficiency 22 | | | | 1 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | | | | 47 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | | | | 47 | | |
HP:0004332 | 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:0004332 | HP:0001888 | Lymphopenia | 2 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | | | | 46 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | LIG1 CL E G H | 3978 | 6598 | OMIM:619774 | IMMUNODEFICIENCY 96; IMD96 | | | | 9 | | |
HP:0004332 | HP:0100827 | Lymphocytosis | 2 | LMNB2 CL E G H | 84823 | 6638 | ORPHA:79087 | Acquired partial lipodystrophy | HP:0040282 - Frequent | | | 11 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0040089 | Abnormal natural killer cell count | 2 | MCM10 CL E G H | 55388 | 18043 | OMIM:619313 | IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80 | | | | | | |
HP:0004332 | 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:0004332 | HP:0001888 | Lymphopenia | 2 | MCM10 CL E G H | 55388 | 18043 | OMIM:619313 | IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80 | | | | | | |
HP:0004332 | HP:0040089 | Abnormal natural killer cell count | 2 | MCM4 CL E G H | 4173 | 6947 | OMIM:609981 | Immunodeficiency 54 | | | | 69 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | MDM4 CL E G H | 4194 | 6974 | OMIM:618849 | BONE MARROW FAILURE SYNDROME 6; BMFS6 | | | | 1 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | MS4A1 CL E G H | 931 | 7315 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | MSN CL E G H | 4478 | 7373 | OMIM:300988 | Immunodeficiency 50 | . | | | 2 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | MTHFD1 CL E G H | 4522 | 7432 | OMIM:617780 | Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | . | | | 5 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | MYC CL E G H | 4609 | 7553 | ORPHA:543 | Burkitt lymphoma | | | | 11 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | MYC CL E G H | 4609 | 7553 | ORPHA:543 | Burkitt lymphoma | | | | 11 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | MYD88 CL E G H | 4615 | 7562 | OMIM:612260 | MYD88 DEFICIENCY; MYD88D | | | | 9 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | MYD88 CL E G H | 4615 | 7562 | OMIM:612260 | MYD88 DEFICIENCY; MYD88D | | | | 9 | | |
HP:0004332 | 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:0004332 | 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:0004332 | HP:0001888 | Lymphopenia | 2 | NBN CL E G H | 4683 | 7652 | OMIM:251260 | Nijmegen breakage syndrome | | | | 706 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | NBN CL E G H | 4683 | 7652 | OMIM:251260 | Nijmegen breakage syndrome | | | | 706 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | NBN CL E G H | 4683 | 7652 | OMIM:251260 | Nijmegen breakage syndrome | | | | 706 | | |
HP:0004332 | HP:0100827 | Lymphocytosis | 2 | NCKAP1L CL E G H | 3071 | 4862 | OMIM:618982 | IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72 | | | | | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | NCKAP1L CL E G H | 3071 | 4862 | OMIM:618982 | IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72 | | | | | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | NCKAP1L CL E G H | 3071 | 4862 | OMIM:618982 | IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72 | | | | | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | NFKB1 CL E G H | 4790 | 7794 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 7 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 11 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | | | | 11 | | |
HP:0004332 | 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:0004332 | HP:0001888 | Lymphopenia | 2 | NHEJ1 CL E G H | 79840 | 25737 | ORPHA:169079 | Cernunnos-XLF deficiency | HP:0040281 - Very frequent | | | 20 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | NHEJ1 CL E G H | 79840 | 25737 | ORPHA:169079 | Cernunnos-XLF deficiency | | | | 20 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | NHEJ1 CL E G H | 79840 | 25737 | ORPHA:169079 | Cernunnos-XLF deficiency | | | | 20 | | |
HP:0004332 | HP:0040089 | Abnormal natural killer cell count | 2 | NLRC4 CL E G H | 58484 | 16412 | OMIM:616050 | AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC | | | | 30 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0004332 | HP:0100827 | Lymphocytosis | 2 | NRAS CL E G H | 4893 | 7989 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | . | | | 102 | | |
HP:0004332 | 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:0004332 | HP:0001888 | Lymphopenia | 2 | NSMCE3 CL E G H | 56160 | 7677 | OMIM:617241 | LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS | | | | 2 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | OTULIN CL E G H | 90268 | 25118 | OMIM:617099 | AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS | | | | 3 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | PGM3 CL E G H | 5238 | 8907 | OMIM:615816 | Immunodeficiency 23 | | | | 15 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040282 - Frequent | | | 15 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | | | | 15 | | |
HP:0004332 | HP:0040089 | Abnormal natural killer cell count | 2 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | | | | 15 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | PI4KA CL E G H | 5297 | 8983 | OMIM:619708 | GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2 | | | | 11 | | |
HP:0004332 | HP:0040089 | Abnormal natural killer cell count | 2 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | PIK3CD CL E G H | 5293 | 8977 | OMIM:615513 | IMMUNODEFICIENCY 14; IMD14 | | | | 9 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | PIK3CD CL E G H | 5293 | 8977 | OMIM:615513 | IMMUNODEFICIENCY 14; IMD14 | | | | 9 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | PIK3CD CL E G H | 5293 | 8977 | OMIM:615513 | IMMUNODEFICIENCY 14; IMD14 | | | | 9 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | PIK3CD CL E G H | 5293 | 8977 | OMIM:619281 | IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B | | | | 9 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | PIK3CD CL E G H | 5293 | 8977 | OMIM:619281 | IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B | | | | 9 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0004332 | HP:0040089 | Abnormal natural killer cell count | 2 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | . | | | 43 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | | | | 43 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | | | | 43 | | |
HP:0004332 | 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:0004332 | HP:0001888 | Lymphopenia | 2 | PNP CL E G H | 4860 | 7892 | OMIM:613179 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | | | | 52 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | PNP CL E G H | 4860 | 7892 | ORPHA:760 | Purine nucleoside phosphorylase deficiency | HP:0040283 - Occasional | | | 52 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | PNP CL E G H | 4860 | 7892 | ORPHA:760 | Purine nucleoside phosphorylase deficiency | | | | 52 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | POMP CL E G H | 51371 | 20330 | OMIM:618048 | Proteasome-Associated autoinflammatory syndrome 2 | | | | 2 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | POMP CL E G H | 51371 | 20330 | OMIM:618048 | Proteasome-Associated autoinflammatory syndrome 2 | | | | 2 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | POMP CL E G H | 51371 | 20330 | OMIM:618048 | Proteasome-Associated autoinflammatory syndrome 2 | | | | 2 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | PRIM1 CL E G H | 5557 | 9369 | OMIM:620005 | | | | | | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | PRIM1 CL E G H | 5557 | 9369 | OMIM:620005 | | | | | | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 10 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 10 | | |
HP:0004332 | HP:0100827 | Lymphocytosis | 2 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0004332 | HP:0100827 | Lymphocytosis | 2 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | PRKCD CL E G H | 5580 | 9399 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 10 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | PSMB4 CL E G H | 5692 | 9541 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | . | | | | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | PSMB9 CL E G H | 5698 | 9546 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | . | | | | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | PTEN CL E G H | 5728 | 9588 | OMIM:158350 | Cowden syndrome 1 | HP:0040284 - Very rare | | | 948 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | PTEN CL E G H | 5728 | 9588 | OMIM:605309 | Macrocephaly/autism syndrome | HP:0040284 - Very rare | | | 948 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | PTPRC CL E G H | 5788 | 9666 | OMIM:619924 | | | | | 25 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | PTPRC CL E G H | 5788 | 9666 | OMIM:619924 | | | | | 25 | | |
HP:0004332 | HP:0040089 | Abnormal natural killer cell count | 2 | PTPRC CL E G H | 5788 | 9666 | OMIM:619924 | | | | | 25 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | PTPRC CL E G H | 5788 | 9666 | OMIM:619924 | | | | | 25 | | |
HP:0004332 | HP:0100827 | Lymphocytosis | 2 | PTPRC CL E G H | 5788 | 9666 | OMIM:619924 | | | | | 25 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0001888 | Lymphopenia | 2 | RAC2 CL E G H | 5880 | 9802 | OMIM:618987 | IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C | | | | 9 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | RAC2 CL E G H | 5880 | 9802 | OMIM:608203 | NEUTROPHIL IMMUNODEFICIENCY SYNDROME | | | | 9 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | RAG1 CL E G H | 5896 | 9831 | OMIM:233650 | Combined cellular and humoral immune defects with granulomas | | | | 127 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0001888 | Lymphopenia | 2 | RAG1 CL E G H | 5896 | 9831 | ORPHA:231154 | Combined immunodeficiency due to partial RAG1 deficiency | | | | 127 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | RAG1 CL E G H | 5896 | 9831 | OMIM:603554 | Omenn syndrome | | | | 127 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | RAG1 CL E G H | 5896 | 9831 | OMIM:603554 | Omenn syndrome | | | | 127 | | |
HP:0004332 | 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:0004332 | HP:0040089 | Abnormal natural killer cell count | 2 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040283 - Occasional | | | 127 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0001888 | Lymphopenia | 2 | RAG2 CL E G H | 5897 | 9832 | OMIM:233650 | Combined cellular and humoral immune defects with granulomas | | | | 50 | | |
HP:0004332 | 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:0004332 | HP:0010975 | Abnormal B cell count | 2 | RAG2 CL E G H | 5897 | 9832 | OMIM:603554 | Omenn syndrome | | | | 50 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | RAG2 CL E G H | 5897 | 9832 | OMIM:603554 | Omenn syndrome | | | | 50 | | |
HP:0004332 | 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:0004332 | HP:0040089 | Abnormal natural killer cell count | 2 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040283 - Occasional | | | 50 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0100827 | Lymphocytosis | 2 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | REL CL E G H | 5966 | 9954 | OMIM:619652 | IMMUNODEFICIENCY 92; IMD92 | | | | 1 | | |
HP:0004332 | HP:0100827 | Lymphocytosis | 2 | REL CL E G H | 5966 | 9954 | OMIM:619652 | IMMUNODEFICIENCY 92; IMD92 | | | | 1 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | REL CL E G H | 5966 | 9954 | OMIM:619652 | IMMUNODEFICIENCY 92; IMD92 | | | | 1 | | |
HP:0004332 | 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:0004332 | HP:0001888 | Lymphopenia | 2 | RFX5 CL E G H | 5993 | 9986 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 38 | | |
HP:0004332 | 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:0004332 | HP:0001888 | Lymphopenia | 2 | RFXANK CL E G H | 8625 | 9987 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 26 | | |
HP:0004332 | 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:0004332 | HP:0001888 | Lymphopenia | 2 | RFXAP CL E G H | 5994 | 9988 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 34 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | RIPK1 CL E G H | 8737 | 10019 | OMIM:618108 | IMMUNODEFICIENCY 57; IMD57 | | | | | | |
HP:0004332 | HP:0040089 | Abnormal natural killer cell count | 2 | RIPK1 CL E G H | 8737 | 10019 | OMIM:618108 | IMMUNODEFICIENCY 57; IMD57 | | | | | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | RIPK1 CL E G H | 8737 | 10019 | OMIM:618108 | IMMUNODEFICIENCY 57; IMD57 | | | | | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | RIPK1 CL E G H | 8737 | 10019 | OMIM:618108 | IMMUNODEFICIENCY 57; IMD57 | | | | | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | RMRP CL E G H | 6023 | 10031 | OMIM:250250 | Cartilage-Hair hypoplasia | . | | | 37 | | |
HP:0004332 | HP:0100827 | Lymphocytosis | 2 | RNASEH2B CL E G H | 79621 | 25671 | OMIM:610181 | Aicardi-Goutieres syndrome 2 | . | | | 34 | | |
HP:0004332 | 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:0004332 | 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:0004332 | HP:0001888 | Lymphopenia | 2 | RRAS2 CL E G H | 22800 | 17271 | OMIM:618624 | NOONAN SYNDROME 12; NS12 | | | | 1 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | . | | | 8 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0004332 | HP:0040089 | Abnormal natural killer cell count | 2 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | SGPL1 CL E G H | 8879 | 10817 | OMIM:617575 | Nephrotic syndrome, type 14 | . | | | 8 | | |
HP:0004332 | HP:0100827 | Lymphocytosis | 2 | SH2D1A CL E G H | 4068 | 10820 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | . | | | 37 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | HP:0040283 - Occasional | | | | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | HP:0040283 - Occasional | | | | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | SLC39A7 CL E G H | 7922 | 4927 | OMIM:619693 | AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9 | | | | | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | SLC39A7 CL E G H | 7922 | 4927 | OMIM:619693 | AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9 | | | | | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | . | | | 74 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | | | | 74 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | HP:0040282 - Frequent | | | 74 | | |
HP:0004332 | 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:0004332 | HP:0040089 | Abnormal natural killer cell count | 2 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | HP:0040284 - Very rare | | | 49 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | | | | 49 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | | | | 49 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | | | | 49 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | SPI1 CL E G H | 6688 | 11241 | OMIM:619707 | AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10 | | | | | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | SPI1 CL E G H | 6688 | 11241 | OMIM:619707 | AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10 | | | | | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | SPP1 CL E G H | 6696 | 11255 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040282 - Frequent | | | | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | SPRED2 CL E G H | 200734 | 17722 | OMIM:619745 | NOONAN SYNDROME 14; NS14 | | | | | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | SRP54 CL E G H | 6729 | 11301 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | | | |
HP:0004332 | 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:0004332 | 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:0004332 | HP:0001888 | Lymphopenia | 2 | STAT1 CL E G H | 6772 | 11362 | OMIM:614162 | Immunodeficiency 31C | . | | | 89 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | STAT2 CL E G H | 6773 | 11363 | OMIM:616636 | Immunodeficiency 44 | | | | 9 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | STAT4 CL E G H | 6775 | 11365 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040282 - Frequent | | | 2 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | STING1 CL E G H | 340061 | 27962 | OMIM:615934 | STING-associated vasculopathy, infantile-onset | | | | | | |
HP:0004332 | 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:0004332 | HP:0011839 | Abnormal T cell count | 2 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0004332 | HP:0040089 | Abnormal natural killer cell count | 2 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | TCF3 CL E G H | 6929 | 11633 | OMIM:616941 | Agammaglobulinemia 8, autosomal dominant | | | | 2 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | TCF3 CL E G H | 6929 | 11633 | OMIM:616941 | Agammaglobulinemia 8, autosomal dominant | | | | 2 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 82 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | TCN2 CL E G H | 6948 | 11653 | ORPHA:859 | Transcobalamin deficiency | HP:0040282 - Frequent | | | 57 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | TERC CL E G H | 7012 | 11727 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 48 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | TERT CL E G H | 7015 | 11730 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 238 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | TET2 CL E G H | 54790 | 25941 | OMIM:619126 | IMMUNODEFICIENCY 75; IMD75 | | | | 3 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | TFR2 CL E G H | 7036 | 11762 | OMIM:604250 | Hemochromatosis, type 3 | . | | | 67 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | TINF2 CL E G H | 26277 | 11824 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 60 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | TLR7 CL E G H | 51284 | 15631 | OMIM:301080 | | | | | | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | TNFAIP3 CL E G H | 7128 | 11896 | OMIM:616744 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL | | | | 26 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | TNFRSF13B CL E G H | 23495 | 18153 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 32 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | TNFRSF13C CL E G H | 115650 | 17755 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 12 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | TNFSF12 CL E G H | 8742 | 11927 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0004332 | 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:0004332 | 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:0004332 | HP:0011839 | Abnormal T cell count | 2 | TOM1 CL E G H | 10043 | 11982 | OMIM:619510 | IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85 | | | | | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | TOM1 CL E G H | 10043 | 11982 | OMIM:619510 | IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85 | | | | | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | TOM1 CL E G H | 10043 | 11982 | OMIM:619510 | IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85 | | | | | | |
HP:0004332 | HP:0040089 | Abnormal natural killer cell count | 2 | TOM1 CL E G H | 10043 | 11982 | OMIM:619510 | IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85 | | | | | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0001888 | Lymphopenia | 2 | TTC7A CL E G H | 57217 | 19750 | OMIM:243150 | Gastrointestinal defects and immunodeficiency syndrome | | | | 26 | | |
HP:0004332 | 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:0004332 | HP:0011839 | Abnormal T cell count | 2 | UNC119 CL E G H | 9094 | 12565 | OMIM:615518 | IMMUNODEFICIENCY 13; IMD13 | | | | 30 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | UNC119 CL E G H | 9094 | 12565 | OMIM:615518 | IMMUNODEFICIENCY 13; IMD13 | | | | 30 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | UNC119 CL E G H | 9094 | 12565 | OMIM:615518 | IMMUNODEFICIENCY 13; IMD13 | | | | 30 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | WAS CL E G H | 7454 | 12731 | OMIM:300299 | Neutropenia, severe congenital, X-linked | | | | 65 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | . | | | 65 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0004332 | HP:0010975 | Abnormal B cell count | 2 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | WIPF1 CL E G H | 7456 | 12736 | OMIM:614493 | WISKOTT-ALDRICH SYNDROME 2; WAS2 | | | | 6 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | WIPF1 CL E G H | 7456 | 12736 | OMIM:614493 | WISKOTT-ALDRICH SYNDROME 2; WAS2 | | | | 6 | | |
HP:0004332 | HP:0100827 | Lymphocytosis | 2 | XIAP CL E G H | 331 | 592 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | . | | | 81 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | XRCC4 CL E G H | 7518 | 12831 | OMIM:616541 | Short stature, microcephaly, and endocrine dysfunction | . | | | 9 | | |
HP:0004332 | 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:0004332 | HP:0001888 | Lymphopenia | 2 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | | | | 46 | | |
HP:0004332 | HP:0100827 | Lymphocytosis | 2 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | HP:0040283 - Occasional | | | 46 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | | | | 46 | | |
HP:0004332 | HP:0011839 | Abnormal T cell count | 2 | ZAP70 CL E G H | 7535 | 12858 | OMIM:269840 | SELECTIVE T-CELL DEFECT | | | | 46 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | ZAP70 CL E G H | 7535 | 12858 | OMIM:269840 | SELECTIVE T-CELL DEFECT | | | | 46 | | |
HP:0004332 | HP:0001888 | Lymphopenia | 2 | ZBTB24 CL E G H | 9841 | 21143 | ORPHA:2268 | ICF syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0004332 | HP:0025619 | Elevated plasma cell count | 3 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0025618 | Reduced plasma cell count | 3 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0030334 | Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology | 3 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0005403 | T lymphocytopenia | 3 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | . | | | 16 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0010976 | B lymphocytopenia | 3 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | HP:0040282 - Frequent | | | 68 | | |
HP:0004332 | HP:0040218 | Reduced natural killer cell count | 3 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0004332 | HP:0025539 | Abnormal B cell subset distribution | 3 | ARHGEF1 CL E G H | 9138 | 681 | OMIM:618459 | Immunodeficiency 62 | | | | | | |
HP:0004332 | HP:0010976 | B lymphocytopenia | 3 | ARHGEF1 CL E G H | 9138 | 681 | OMIM:618459 | Immunodeficiency 62 | | | | | | |
HP:0004332 | HP:0005403 | T lymphocytopenia | 3 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | . | | | 3267 | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | | | | 3267 | | |
HP:0004332 | HP:0010976 | B lymphocytopenia | 3 | ATP11A CL E G H | 23250 | 13552 | OMIM:619851 | LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24 | | | | | | |
HP:0004332 | 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:0004332 | HP:0040218 | Reduced natural killer cell count | 3 | B2M CL E G H | 567 | 914 | OMIM:241600 | Immunodeficiency 43 | | | | 8 | | |
HP:0004332 | HP:0010976 | B lymphocytopenia | 3 | B2M CL E G H | 567 | 914 | OMIM:241600 | Immunodeficiency 43 | | | | 8 | | |
HP:0004332 | HP:0025539 | Abnormal B cell subset distribution | 3 | BACH2 CL E G H | 60468 | 14078 | OMIM:618394 | IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60 | | | | | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | BCL10 CL E G H | 8915 | 989 | OMIM:616098 | IMMUNODEFICIENCY 37; IMD37 | | | | 18 | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | | | | 314 | | |
HP:0004332 | HP:0010976 | B lymphocytopenia | 3 | BTK CL E G H | 695 | 1133 | OMIM:300755 | Agammaglobulinemia, X-linked | | | | 109 | | |
HP:0004332 | HP:0010976 | B lymphocytopenia | 3 | BTK CL E G H | 695 | 1133 | OMIM:307200 | Isolated growth hormone deficiency, type III, with agammaglobulinemia | | | | 109 | | |
HP:0004332 | HP:0100828 | Increased T cell count | 3 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | HP:0040282 - Frequent | | | 1 | | |
HP:0004332 | 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:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | CARD11 CL E G H | 84433 | 16393 | OMIM:615206 | Card11 immunodeficiency | | | | 45 | | |
HP:0004332 | HP:0005404 | Increased B cell count | 3 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 87 | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 87 | | |
HP:0004332 | HP:0005403 | T lymphocytopenia | 3 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 87 | | |
HP:0004332 | HP:0005404 | Increased B cell count | 3 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | . | | | 87 | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | | | | 87 | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | CASP8 CL E G H | 841 | 1509 | OMIM:607271 | CASPASE 8 DEFICIENCY | | | | 37 | | |
HP:0004332 | HP:0025539 | Abnormal B cell subset distribution | 3 | CD19 CL E G H | 930 | 1633 | OMIM:613493 | IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3 | | | | 38 | | |
HP:0004332 | HP:0005403 | T lymphocytopenia | 3 | CD247 CL E G H | 919 | 1677 | OMIM:610163 | IMMUNODEFICIENCY 25; IMD25 | | | | 8 | | |
HP:0004332 | 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:0004332 | 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:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | CD3E CL E G H | 916 | 1674 | OMIM:615615 | Immunodeficiency 18 | | | | 24 | | |
HP:0004332 | 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:0004332 | HP:0005403 | T lymphocytopenia | 3 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | | | | 19 | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | | | | 19 | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | CD4 CL E G H | 920 | 1678 | OMIM:619238 | IMMUNODEFICIENCY 79; IMD79 | | | | 1 | | |
HP:0004332 | HP:0040218 | Reduced natural killer cell count | 3 | CD70 CL E G H | 970 | 11937 | OMIM:618261 | LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3 | | | | | | |
HP:0004332 | HP:0010976 | B lymphocytopenia | 3 | CD79B CL E G H | 974 | 1699 | OMIM:612692 | Agammaglobulinemia 6, autosomal recessive | | | | 6 | | |
HP:0004332 | HP:0005403 | T lymphocytopenia | 3 | CD8A CL E G H | 925 | 1706 | OMIM:608957 | Cd8 deficiency, familial | | | | 4 | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | CD8A CL E G H | 925 | 1706 | OMIM:608957 | Cd8 deficiency, familial | | | | 4 | | |
HP:0004332 | 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:0004332 | 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:0004332 | HP:0025539 | Abnormal B cell subset distribution | 3 | CTNNBL1 CL E G H | 56259 | 15879 | OMIM:619846 | | | | | | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | CTNNBL1 CL E G H | 56259 | 15879 | OMIM:619846 | | | | | | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | CTPS1 CL E G H | 1503 | 2519 | OMIM:615897 | IMMUNODEFICIENCY 24; IMD24 | | | | 2 | | |
HP:0004332 | HP:0025539 | Abnormal B cell subset distribution | 3 | CTPS1 CL E G H | 1503 | 2519 | OMIM:615897 | IMMUNODEFICIENCY 24; IMD24 | | | | 2 | | |
HP:0004332 | HP:0010976 | B lymphocytopenia | 3 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:603554 | Omenn syndrome | . | | | 94 | | |
HP:0004332 | 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:0004332 | HP:0010976 | B lymphocytopenia | 3 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:602450 | Severe combined immunodeficiency with sensitivity to ionizing radiation | | | | 94 | | |
HP:0004332 | 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:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0004332 | HP:0040218 | Reduced natural killer cell count | 3 | DNMT3B CL E G H | 1789 | 2979 | OMIM:242860 | Immunodeficiency-Centromeric instability-facial anomalies syndrome | . | | | 79 | | |
HP:0004332 | HP:0005403 | T lymphocytopenia | 3 | DNMT3B CL E G H | 1789 | 2979 | OMIM:242860 | Immunodeficiency-Centromeric instability-facial anomalies syndrome | . | | | 79 | | |
HP:0004332 | HP:0005403 | T lymphocytopenia | 3 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | | | | 6 | | |
HP:0004332 | 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:0004332 | 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:0004332 | HP:0040218 | Reduced natural killer cell count | 3 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | | | | 217 | | |
HP:0004332 | HP:0005403 | T lymphocytopenia | 3 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | | | | 217 | | |
HP:0004332 | 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:0004332 | 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:0004332 | HP:0040218 | Reduced natural killer cell count | 3 | ELF4 CL E G H | 2000 | 3319 | OMIM:301074 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2 | | | | 1 | | |
HP:0004332 | HP:0005403 | T lymphocytopenia | 3 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0004332 | 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:0004332 | 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:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | FAS CL E G H | 355 | 11920 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0004332 | HP:0005403 | T lymphocytopenia | 3 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0004332 | HP:0005404 | Increased B cell count | 3 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 59 | | |
HP:0004332 | HP:0005404 | Increased B cell count | 3 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0004332 | HP:0005403 | T lymphocytopenia | 3 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | FASLG CL E G H | 356 | 11936 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0004332 | HP:0040218 | Reduced natural killer cell count | 3 | FCGR3A CL E G H | 2214 | 3619 | OMIM:615707 | Immunodeficiency 20 | | | | 4 | | |
HP:0004332 | HP:0005403 | T lymphocytopenia | 3 | FCHO1 CL E G H | 23149 | 29002 | OMIM:619164 | IMMUNODEFICIENCY 76; IMD76 | | | | | | |
HP:0004332 | HP:0010976 | B lymphocytopenia | 3 | FCHO1 CL E G H | 23149 | 29002 | OMIM:619164 | IMMUNODEFICIENCY 76; IMD76 | | | | | | |
HP:0004332 | HP:0010976 | B lymphocytopenia | 3 | FNIP1 CL E G H | 96459 | 29418 | OMIM:619705 | IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93 | | | | 1 | | |
HP:0004332 | 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:0004332 | 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:0004332 | HP:0005403 | T lymphocytopenia | 3 | FOXN1 CL E G H | 8456 | 12765 | OMIM:601705 | T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY | . | | | 54 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | GATA2 CL E G H | 2624 | 4171 | OMIM:614038 | Lymphedema, primary, with myelodysplasia | | | | 137 | | |
HP:0004332 | HP:0010976 | B lymphocytopenia | 3 | GFI1 CL E G H | 2672 | 4237 | OMIM:613107 | Neutropenia, severe congenital, 2, autosomal dominant | . | | | 56 | | |
HP:0004332 | HP:0500033 | Abnormal natural killer subset distribution | 3 | GINS1 CL E G H | 9837 | 28980 | OMIM:617827 | Immunodeficiency 55 | | | | | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:133 | Chronic beryllium disease | | | | 1 | | |
HP:0004332 | HP:0100828 | Increased T cell count | 3 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | HP:0040282 - Frequent | | | 2 | | |
HP:0004332 | HP:0025539 | Abnormal B cell subset distribution | 3 | HYOU1 CL E G H | 10525 | 16931 | OMIM:233600 | Immunodeficiency 59 and hypoglycemia | | | | | | |
HP:0004332 | HP:0025539 | Abnormal B cell subset distribution | 3 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | | | | 32 | | |
HP:0004332 | HP:0010976 | B lymphocytopenia | 3 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | | | | 32 | | |
HP:0004332 | HP:0010976 | B lymphocytopenia | 3 | IGHM CL E G H | 3507 | 5541 | OMIM:601495 | Agammaglobulinemia 1, autosomal recessive | . | | | 7 | | |
HP:0004332 | HP:0010976 | B lymphocytopenia | 3 | IGLL1 CL E G H | 3543 | 5870 | OMIM:613500 | Agammaglobulinemia 2, autosomal recessive | | | | 3 | | |
HP:0004332 | HP:0025539 | Abnormal B cell subset distribution | 3 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0004332 | HP:0005403 | T lymphocytopenia | 3 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0004332 | HP:0010976 | B lymphocytopenia | 3 | IKBKG CL E G H | 8517 | 5961 | OMIM:301081 | | | | | 52 | | |
HP:0004332 | HP:0010976 | B lymphocytopenia | 3 | IKZF1 CL E G H | 10320 | 13176 | OMIM:616873 | IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13 | | | | 8 | | |
HP:0004332 | HP:0010976 | B lymphocytopenia | 3 | IKZF3 CL E G H | 22806 | 13178 | OMIM:619437 | IMMUNODEFICIENCY 84; IMD84 | | | | | | |
HP:0004332 | HP:0025539 | Abnormal B cell subset distribution | 3 | IL21 CL E G H | 59067 | 6005 | OMIM:615767 | IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11 | | | | 3 | | |
HP:0004332 | 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:0004332 | HP:0005403 | T lymphocytopenia | 3 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0004332 | HP:0010976 | B lymphocytopenia | 3 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | IL2RB CL E G H | 3560 | 6009 | OMIM:618495 | Immunodeficiency 63 with lymphoproliferation and autoimmunity | | | | | | |
HP:0004332 | HP:0005403 | T lymphocytopenia | 3 | IL2RG CL E G H | 3561 | 6010 | OMIM:312863 | Combined immunodeficiency, X-linked | | | | 48 | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | IL2RG CL E G H | 3561 | 6010 | OMIM:312863 | Combined immunodeficiency, X-linked | | | | 48 | | |
HP:0004332 | HP:0005403 | T lymphocytopenia | 3 | IL2RG CL E G H | 3561 | 6010 | OMIM:300400 | Severe combined immunodeficiency, X-linked | | | | 48 | | |
HP:0004332 | HP:0040218 | Reduced natural killer cell count | 3 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | HP:0040281 - Very frequent | | | 48 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0040218 | Reduced natural killer cell count | 3 | IL6ST CL E G H | 3572 | 6021 | OMIM:619752 | HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A | | | | | | |
HP:0004332 | HP:0005403 | T lymphocytopenia | 3 | IL7 CL E G H | 3574 | 6023 | OMIM:618309 | EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5 | | | | | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0025539 | Abnormal B cell subset distribution | 3 | IRF2BP2 CL E G H | 359948 | 21729 | OMIM:617765 | IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14 | | | | 4 | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | ITK CL E G H | 3702 | 6171 | OMIM:613011 | LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1 | | | | 51 | | |
HP:0004332 | HP:0005403 | T lymphocytopenia | 3 | ITK CL E G H | 3702 | 6171 | OMIM:613011 | LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1 | | | | 51 | | |
HP:0004332 | HP:0010976 | B lymphocytopenia | 3 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0004332 | HP:0005403 | T lymphocytopenia | 3 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0004332 | HP:0500033 | Abnormal natural killer subset distribution | 3 | JAK3 CL E G H | 3718 | 6193 | OMIM:600802 | Scid, autosomal recessive, T-Negative/b-Positive type | | | | 140 | | |
HP:0004332 | HP:0005403 | T lymphocytopenia | 3 | JAK3 CL E G H | 3718 | 6193 | OMIM:600802 | Scid, autosomal recessive, T-Negative/b-Positive type | | | | 140 | | |
HP:0004332 | 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:0004332 | HP:0500033 | Abnormal natural killer subset distribution | 3 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | | | | 140 | | |
HP:0004332 | 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:0004332 | HP:0005403 | T lymphocytopenia | 3 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0004332 | HP:0010976 | B lymphocytopenia | 3 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 1 | | |
HP:0004332 | 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:0004332 | HP:0040218 | Reduced natural killer cell count | 3 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 1 | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | LAT CL E G H | 27040 | 18874 | OMIM:617514 | Immunodeficiency 52 | | | | 2 | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | LCK CL E G H | 3932 | 6524 | OMIM:615758 | Immunodeficiency 22 | | | | 1 | | |
HP:0004332 | HP:0005403 | T lymphocytopenia | 3 | LCK CL E G H | 3932 | 6524 | OMIM:615758 | Immunodeficiency 22 | | | | 1 | | |
HP:0004332 | HP:0025539 | Abnormal B cell subset distribution | 3 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0004332 | HP:0031545 | Abnormally low T cell receptor excision circle level | 3 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0004332 | 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:0004332 | HP:0005403 | T lymphocytopenia | 3 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | | | | 47 | | |
HP:0004332 | 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:0004332 | HP:0005403 | T lymphocytopenia | 3 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | | | | 46 | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | LIG1 CL E G H | 3978 | 6598 | OMIM:619774 | IMMUNODEFICIENCY 96; IMD96 | | | | 9 | | |
HP:0004332 | HP:0010976 | B lymphocytopenia | 3 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0040218 | Reduced natural killer cell count | 3 | MCM10 CL E G H | 55388 | 18043 | OMIM:619313 | IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80 | | | | | | |
HP:0004332 | HP:0005403 | T lymphocytopenia | 3 | MCM10 CL E G H | 55388 | 18043 | OMIM:619313 | IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80 | | | | | | |
HP:0004332 | HP:0010976 | B lymphocytopenia | 3 | MCM10 CL E G H | 55388 | 18043 | OMIM:619313 | IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80 | | | | | | |
HP:0004332 | HP:0040218 | Reduced natural killer cell count | 3 | MCM4 CL E G H | 4173 | 6947 | OMIM:609981 | Immunodeficiency 54 | | | | 69 | | |
HP:0004332 | HP:0005403 | T lymphocytopenia | 3 | MYC CL E G H | 4609 | 7553 | ORPHA:543 | Burkitt lymphoma | | | | 11 | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | MYC CL E G H | 4609 | 7553 | ORPHA:543 | Burkitt lymphoma | | | | 11 | | |
HP:0004332 | HP:0010976 | B lymphocytopenia | 3 | MYD88 CL E G H | 4615 | 7562 | OMIM:612260 | MYD88 DEFICIENCY; MYD88D | | | | 9 | | |
HP:0004332 | 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:0004332 | HP:0005403 | T lymphocytopenia | 3 | NBN CL E G H | 4683 | 7652 | OMIM:251260 | Nijmegen breakage syndrome | . | | | 706 | | |
HP:0004332 | HP:0010976 | B lymphocytopenia | 3 | NBN CL E G H | 4683 | 7652 | OMIM:251260 | Nijmegen breakage syndrome | . | | | 706 | | |
HP:0004332 | HP:0005404 | Increased B cell count | 3 | NCKAP1L CL E G H | 3071 | 4862 | OMIM:618982 | IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72 | | | | | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | NCKAP1L CL E G H | 3071 | 4862 | OMIM:618982 | IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72 | | | | | | |
HP:0004332 | HP:0010976 | B lymphocytopenia | 3 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | | | | 11 | | |
HP:0004332 | HP:0010976 | B lymphocytopenia | 3 | NHEJ1 CL E G H | 79840 | 25737 | ORPHA:169079 | Cernunnos-XLF deficiency | HP:0040281 - Very frequent | | | 20 | | |
HP:0004332 | HP:0005403 | T lymphocytopenia | 3 | NHEJ1 CL E G H | 79840 | 25737 | ORPHA:169079 | Cernunnos-XLF deficiency | HP:0040281 - Very frequent | | | 20 | | |
HP:0004332 | HP:0040218 | Reduced natural killer cell count | 3 | NLRC4 CL E G H | 58484 | 16412 | OMIM:616050 | AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC | | | | 30 | | |
HP:0004332 | HP:0005403 | T lymphocytopenia | 3 | NSMCE3 CL E G H | 56160 | 7677 | OMIM:617241 | LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS | | | | 2 | | |
HP:0004332 | 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:0004332 | 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:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | | | | 15 | | |
HP:0004332 | HP:0040218 | Reduced natural killer cell count | 3 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040283 - Occasional | | | 15 | | |
HP:0004332 | HP:0005403 | T lymphocytopenia | 3 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040282 - Frequent | | | 15 | | |
HP:0004332 | HP:0005403 | T lymphocytopenia | 3 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0004332 | HP:0040218 | Reduced natural killer cell count | 3 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 9 | | |
HP:0004332 | 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:0004332 | HP:0010976 | B lymphocytopenia | 3 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 9 | | |
HP:0004332 | HP:0025539 | Abnormal B cell subset distribution | 3 | PIK3CD CL E G H | 5293 | 8977 | OMIM:615513 | IMMUNODEFICIENCY 14; IMD14 | | | | 9 | | |
HP:0004332 | HP:0005403 | T lymphocytopenia | 3 | PIK3CD CL E G H | 5293 | 8977 | OMIM:615513 | IMMUNODEFICIENCY 14; IMD14 | | | | 9 | | |
HP:0004332 | HP:0010976 | B lymphocytopenia | 3 | PIK3CD CL E G H | 5293 | 8977 | OMIM:619281 | IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B | | | | 9 | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0004332 | HP:0040218 | Reduced natural killer cell count | 3 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0004332 | HP:0005403 | T lymphocytopenia | 3 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0004332 | HP:0025539 | Abnormal B cell subset distribution | 3 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | | | | 43 | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | | | | 43 | | |
HP:0004332 | HP:0010976 | B lymphocytopenia | 3 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | | | | 43 | | |
HP:0004332 | 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:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | PNP CL E G H | 4860 | 7892 | ORPHA:760 | Purine nucleoside phosphorylase deficiency | | | | 52 | | |
HP:0004332 | HP:0025539 | Abnormal B cell subset distribution | 3 | POMP CL E G H | 51371 | 20330 | OMIM:618048 | Proteasome-Associated autoinflammatory syndrome 2 | | | | 2 | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | POMP CL E G H | 51371 | 20330 | OMIM:618048 | Proteasome-Associated autoinflammatory syndrome 2 | | | | 2 | | |
HP:0004332 | HP:0010976 | B lymphocytopenia | 3 | POMP CL E G H | 51371 | 20330 | OMIM:618048 | Proteasome-Associated autoinflammatory syndrome 2 | | | | 2 | | |
HP:0004332 | HP:0010976 | B lymphocytopenia | 3 | PRIM1 CL E G H | 5557 | 9369 | OMIM:620005 | | | | | | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 10 | | |
HP:0004332 | HP:0005403 | T lymphocytopenia | 3 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 10 | | |
HP:0004332 | HP:0005404 | Increased B cell count | 3 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0004332 | HP:0005404 | Increased B cell count | 3 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0004332 | 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:0004332 | HP:0005404 | Increased B cell count | 3 | PTPRC CL E G H | 5788 | 9666 | OMIM:619924 | | | | | 25 | | |
HP:0004332 | HP:0040218 | Reduced natural killer cell count | 3 | PTPRC CL E G H | 5788 | 9666 | OMIM:619924 | | | | | 25 | | |
HP:0004332 | HP:0005403 | T lymphocytopenia | 3 | PTPRC CL E G H | 5788 | 9666 | OMIM:619924 | | | | | 25 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0010976 | B lymphocytopenia | 3 | RAG1 CL E G H | 5896 | 9831 | OMIM:233650 | Combined cellular and humoral immune defects with granulomas | . | | | 127 | | |
HP:0004332 | HP:0005403 | T lymphocytopenia | 3 | RAG1 CL E G H | 5896 | 9831 | OMIM:233650 | Combined cellular and humoral immune defects with granulomas | . | | | 127 | | |
HP:0004332 | 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:0004332 | 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:0004332 | HP:0010976 | B lymphocytopenia | 3 | RAG1 CL E G H | 5896 | 9831 | OMIM:603554 | Omenn syndrome | . | | | 127 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0005403 | T lymphocytopenia | 3 | RAG2 CL E G H | 5897 | 9832 | OMIM:233650 | Combined cellular and humoral immune defects with granulomas | . | | | 50 | | |
HP:0004332 | HP:0010976 | B lymphocytopenia | 3 | RAG2 CL E G H | 5897 | 9832 | OMIM:233650 | Combined cellular and humoral immune defects with granulomas | . | | | 50 | | |
HP:0004332 | HP:0010976 | B lymphocytopenia | 3 | RAG2 CL E G H | 5897 | 9832 | OMIM:603554 | Omenn syndrome | . | | | 50 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0005403 | T lymphocytopenia | 3 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | | | |
HP:0004332 | HP:0005404 | Increased B cell count | 3 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | | | |
HP:0004332 | HP:0025539 | Abnormal B cell subset distribution | 3 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0004332 | HP:0010976 | B lymphocytopenia | 3 | REL CL E G H | 5966 | 9954 | OMIM:619652 | IMMUNODEFICIENCY 92; IMD92 | | | | 1 | | |
HP:0004332 | HP:0025539 | Abnormal B cell subset distribution | 3 | REL CL E G H | 5966 | 9954 | OMIM:619652 | IMMUNODEFICIENCY 92; IMD92 | | | | 1 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0010976 | B lymphocytopenia | 3 | RIPK1 CL E G H | 8737 | 10019 | OMIM:618108 | IMMUNODEFICIENCY 57; IMD57 | | | | | | |
HP:0004332 | HP:0040218 | Reduced natural killer cell count | 3 | RIPK1 CL E G H | 8737 | 10019 | OMIM:618108 | IMMUNODEFICIENCY 57; IMD57 | | | | | | |
HP:0004332 | HP:0005403 | T lymphocytopenia | 3 | RIPK1 CL E G H | 8737 | 10019 | OMIM:618108 | IMMUNODEFICIENCY 57; IMD57 | | | | | | |
HP:0004332 | 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:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0004332 | HP:0040218 | Reduced natural killer cell count | 3 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0004332 | HP:0010976 | B lymphocytopenia | 3 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0004332 | HP:0005403 | T lymphocytopenia | 3 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0004332 | HP:0010976 | B lymphocytopenia | 3 | SLC39A7 CL E G H | 7922 | 4927 | OMIM:619693 | AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9 | | | | | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | | | | 74 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0010976 | B lymphocytopenia | 3 | SPI1 CL E G H | 6688 | 11241 | OMIM:619707 | AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10 | | | | | | |
HP:0004332 | 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:0004332 | HP:0005403 | T lymphocytopenia | 3 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0004332 | 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:0004332 | HP:0040218 | Reduced natural killer cell count | 3 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0004332 | HP:0010976 | B lymphocytopenia | 3 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0004332 | HP:0010976 | B lymphocytopenia | 3 | TCF3 CL E G H | 6929 | 11633 | OMIM:616941 | Agammaglobulinemia 8, autosomal dominant | | | | 2 | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0004332 | HP:0010976 | B lymphocytopenia | 3 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0004332 | HP:0025539 | Abnormal B cell subset distribution | 3 | TET2 CL E G H | 54790 | 25941 | OMIM:619126 | IMMUNODEFICIENCY 75; IMD75 | | | | 3 | | |
HP:0004332 | HP:0010976 | B lymphocytopenia | 3 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | |
HP:0004332 | 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:0004332 | HP:0025539 | Abnormal B cell subset distribution | 3 | TOM1 CL E G H | 10043 | 11982 | OMIM:619510 | IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85 | | | | | | |
HP:0004332 | HP:0005403 | T lymphocytopenia | 3 | TOM1 CL E G H | 10043 | 11982 | OMIM:619510 | IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85 | | | | | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | TOM1 CL E G H | 10043 | 11982 | OMIM:619510 | IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85 | | | | | | |
HP:0004332 | HP:0040218 | Reduced natural killer cell count | 3 | TOM1 CL E G H | 10043 | 11982 | OMIM:619510 | IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85 | | | | | | |
HP:0004332 | 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:0004332 | HP:0010976 | B lymphocytopenia | 3 | UNC119 CL E G H | 9094 | 12565 | OMIM:615518 | IMMUNODEFICIENCY 13; IMD13 | | | | 30 | | |
HP:0004332 | HP:0005403 | T lymphocytopenia | 3 | UNC119 CL E G H | 9094 | 12565 | OMIM:615518 | IMMUNODEFICIENCY 13; IMD13 | | | | 30 | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | UNC119 CL E G H | 9094 | 12565 | OMIM:615518 | IMMUNODEFICIENCY 13; IMD13 | | | | 30 | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | WAS CL E G H | 7454 | 12731 | OMIM:300299 | Neutropenia, severe congenital, X-linked | | | | 65 | | |
HP:0004332 | HP:0005403 | T lymphocytopenia | 3 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0004332 | HP:0010976 | B lymphocytopenia | 3 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |
HP:0004332 | HP:0005403 | T lymphocytopenia | 3 | WIPF1 CL E G H | 7456 | 12736 | OMIM:614493 | WISKOTT-ALDRICH SYNDROME 2; WAS2 | | | | 6 | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | WIPF1 CL E G H | 7456 | 12736 | OMIM:614493 | WISKOTT-ALDRICH SYNDROME 2; WAS2 | | | | 6 | | |
HP:0004332 | 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:0004332 | HP:0005403 | T lymphocytopenia | 3 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | | | | 46 | | |
HP:0004332 | 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:0004332 | HP:0005403 | T lymphocytopenia | 3 | ZAP70 CL E G H | 7535 | 12858 | OMIM:269840 | SELECTIVE T-CELL DEFECT | | | | 46 | | |
HP:0004332 | HP:0025540 | Abnormal T cell subset distribution | 3 | ZAP70 CL E G H | 7535 | 12858 | OMIM:269840 | SELECTIVE T-CELL DEFECT | | | | 46 | | |
HP:0004332 | HP:0041080 | Abnormal proportion of exhausted T cells | 4 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0030251 | Absence of memory B cells | 4 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0030370 | Abnormal proportion of naive B cells | 4 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0032577 | Clonal T cell receptor rearrangement | 4 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0031410 | Abnormal distribution of CD56 bright/dim natural killer cells | 4 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0500272 | Abnormal proportion of immature gamma-delta T cells | 4 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0030376 | Abnormal proportion of immature B cells | 4 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0030335 | Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count | 4 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0032127 | Abnormal plasmablast proportion | 4 | CL E G H | | | | | | | | | | |
HP:0004332 | 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:0004332 | HP:0031394 | Abnormal CD4:CD8 ratio | 4 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0004332 | HP:0030379 | Abnormal proportion of transitional B cells | 4 | ARHGEF1 CL E G H | 9138 | 681 | OMIM:618459 | Immunodeficiency 62 | | | | | | |
HP:0004332 | HP:0030373 | Abnormal proportion of memory B cells | 4 | ARHGEF1 CL E G H | 9138 | 681 | OMIM:618459 | Immunodeficiency 62 | | | | | | |
HP:0004332 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 4 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | . | | | 3267 | | |
HP:0004332 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | | | | 3267 | | |
HP:0004332 | 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:0004332 | HP:0030373 | Abnormal proportion of memory B cells | 4 | BACH2 CL E G H | 60468 | 14078 | OMIM:618394 | IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60 | | | | | | |
HP:0004332 | HP:0032182 | Abnormal proportion of memory T cells | 4 | BCL10 CL E G H | 8915 | 989 | OMIM:616098 | IMMUNODEFICIENCY 37; IMD37 | | | | 18 | | |
HP:0004332 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | | | | 314 | | |
HP:0004332 | 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:0004332 | 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:0004332 | HP:0020111 | Abnormal CD4+CD25+ regulatory T cell proportion | 4 | CARD11 CL E G H | 84433 | 16393 | OMIM:615206 | Card11 immunodeficiency | | | | 45 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0031394 | Abnormal CD4:CD8 ratio | 4 | CASP8 CL E G H | 841 | 1509 | OMIM:607271 | CASPASE 8 DEFICIENCY | | | | 37 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0045080 | Decreased proportion of CD3-positive T cells | 4 | CD3E CL E G H | 916 | 1674 | OMIM:615615 | Immunodeficiency 18 | | | | 24 | | |
HP:0004332 | 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:0004332 | HP:0031393 | Abnormal proportion of CD8-positive T cells | 4 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | | | | 19 | | |
HP:0004332 | HP:0005415 | Decreased proportion of CD8-positive T cells | 4 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | . | | | 19 | | |
HP:0004332 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | CD4 CL E G H | 920 | 1678 | OMIM:619238 | IMMUNODEFICIENCY 79; IMD79 | | | | 1 | | |
HP:0004332 | HP:0031393 | Abnormal proportion of CD8-positive T cells | 4 | CD8A CL E G H | 925 | 1706 | OMIM:608957 | Cd8 deficiency, familial | | | | 4 | | |
HP:0004332 | HP:0005415 | Decreased proportion of CD8-positive T cells | 4 | CD8A CL E G H | 925 | 1706 | OMIM:608957 | Cd8 deficiency, familial | | | | 4 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0020111 | Abnormal CD4+CD25+ regulatory T cell proportion | 4 | CTNNBL1 CL E G H | 56259 | 15879 | OMIM:619846 | | | | | | | |
HP:0004332 | HP:0030373 | Abnormal proportion of memory B cells | 4 | CTNNBL1 CL E G H | 56259 | 15879 | OMIM:619846 | | | | | | | |
HP:0004332 | HP:0031394 | Abnormal CD4:CD8 ratio | 4 | CTPS1 CL E G H | 1503 | 2519 | OMIM:615897 | IMMUNODEFICIENCY 24; IMD24 | | | | 2 | | |
HP:0004332 | 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:0004332 | HP:0030373 | Abnormal proportion of memory B cells | 4 | CTPS1 CL E G H | 1503 | 2519 | OMIM:615897 | IMMUNODEFICIENCY 24; IMD24 | | | | 2 | | |
HP:0004332 | HP:0005365 | Severe B lymphocytopenia | 4 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:603554 | Omenn syndrome | . | | | 94 | | |
HP:0004332 | 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:0004332 | 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:0004332 | HP:0031394 | Abnormal CD4:CD8 ratio | 4 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 4 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | . | | | 40 | | |
HP:0004332 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0002853 | Increased proportion of HLA DR+ T cells | 4 | FAS CL E G H | 355 | 11920 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | . | | | 59 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0002853 | Increased proportion of HLA DR+ T cells | 4 | FASLG CL E G H | 356 | 11936 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | . | | | 37 | | |
HP:0004332 | 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:0004332 | 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:0004332 | HP:0030252 | Absent circulating B cells | 4 | FNIP1 CL E G H | 96459 | 29418 | OMIM:619705 | IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93 | | | | 1 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0031394 | Abnormal CD4:CD8 ratio | 4 | GATA2 CL E G H | 2624 | 4171 | OMIM:614038 | Lymphedema, primary, with myelodysplasia | | | | 137 | | |
HP:0004332 | HP:0040219 | Absent natural killer cells | 4 | GINS1 CL E G H | 9837 | 28980 | OMIM:617827 | Immunodeficiency 55 | | | | | | |
HP:0004332 | 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:0004332 | HP:0030373 | Abnormal proportion of memory B cells | 4 | HYOU1 CL E G H | 10525 | 16931 | OMIM:233600 | Immunodeficiency 59 and hypoglycemia | | | | | | |
HP:0004332 | HP:0030373 | Abnormal proportion of memory B cells | 4 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | | | | 32 | | |
HP:0004332 | HP:0030252 | Absent circulating B cells | 4 | IGLL1 CL E G H | 3543 | 5870 | OMIM:613500 | Agammaglobulinemia 2, autosomal recessive | | | | 3 | | |
HP:0004332 | HP:0005415 | Decreased proportion of CD8-positive T cells | 4 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0004332 | HP:0030373 | Abnormal proportion of memory B cells | 4 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0004332 | 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:0004332 | HP:0031393 | Abnormal proportion of CD8-positive T cells | 4 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0004332 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0031394 | Abnormal CD4:CD8 ratio | 4 | IL2RB CL E G H | 3560 | 6009 | OMIM:618495 | Immunodeficiency 63 with lymphoproliferation and autoimmunity | | | | | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 4 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0004332 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0004332 | HP:0040219 | Absent natural killer cells | 4 | JAK3 CL E G H | 3718 | 6193 | OMIM:600802 | Scid, autosomal recessive, T-Negative/b-Positive type | | | | 140 | | |
HP:0004332 | HP:0040219 | Absent natural killer cells | 4 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | HP:0040282 - Frequent | | | 140 | | |
HP:0004332 | 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:0004332 | 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:0004332 | HP:0500269 | Abnormal proportion of gamma-delta T cells | 4 | LAT CL E G H | 27040 | 18874 | OMIM:617514 | Immunodeficiency 52 | | | | 2 | | |
HP:0004332 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | LAT CL E G H | 27040 | 18874 | OMIM:617514 | Immunodeficiency 52 | | | | 2 | | |
HP:0004332 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 4 | LCK CL E G H | 3932 | 6524 | OMIM:615758 | Immunodeficiency 22 | . | | | 1 | | |
HP:0004332 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | LCK CL E G H | 3932 | 6524 | OMIM:615758 | Immunodeficiency 22 | | | | 1 | | |
HP:0004332 | HP:0030373 | Abnormal proportion of memory B cells | 4 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0004332 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0500269 | Abnormal proportion of gamma-delta T cells | 4 | LIG1 CL E G H | 3978 | 6598 | OMIM:619774 | IMMUNODEFICIENCY 96; IMD96 | | | | 9 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | MYC CL E G H | 4609 | 7553 | ORPHA:543 | Burkitt lymphoma | | | | 11 | | |
HP:0004332 | HP:0032182 | Abnormal proportion of memory T cells | 4 | NCKAP1L CL E G H | 3071 | 4862 | OMIM:618982 | IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72 | | | | | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | | | | 15 | | |
HP:0004332 | 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:0004332 | HP:0031394 | Abnormal CD4:CD8 ratio | 4 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040283 - Occasional | | | 15 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0030373 | Abnormal proportion of memory B cells | 4 | PIK3CD CL E G H | 5293 | 8977 | OMIM:615513 | IMMUNODEFICIENCY 14; IMD14 | | | | 9 | | |
HP:0004332 | HP:0030379 | Abnormal proportion of transitional B cells | 4 | PIK3CD CL E G H | 5293 | 8977 | OMIM:615513 | IMMUNODEFICIENCY 14; IMD14 | | | | 9 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | | | | 43 | | |
HP:0004332 | HP:0030379 | Abnormal proportion of transitional B cells | 4 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | | | | 43 | | |
HP:0004332 | HP:0031396 | Abnormal proportion of naive T cells | 4 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | | | | 43 | | |
HP:0004332 | 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:0004332 | 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:0004332 | HP:0031394 | Abnormal CD4:CD8 ratio | 4 | POMP CL E G H | 51371 | 20330 | OMIM:618048 | Proteasome-Associated autoinflammatory syndrome 2 | | | | 2 | | |
HP:0004332 | 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:0004332 | HP:0005365 | Severe B lymphocytopenia | 4 | PRIM1 CL E G H | 5557 | 9369 | OMIM:620005 | | | | | | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0005365 | Severe B lymphocytopenia | 4 | RAG1 CL E G H | 5896 | 9831 | OMIM:603554 | Omenn syndrome | . | | | 127 | | |
HP:0004332 | 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:0004332 | HP:0005365 | Severe B lymphocytopenia | 4 | RAG2 CL E G H | 5897 | 9832 | OMIM:603554 | Omenn syndrome | . | | | 50 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0004332 | HP:0033207 | Increased proportion autoreactive unresponsive CD21-/low B cells | 4 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0004332 | HP:0031394 | Abnormal CD4:CD8 ratio | 4 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0004332 | HP:0030373 | Abnormal proportion of memory B cells | 4 | REL CL E G H | 5966 | 9954 | OMIM:619652 | IMMUNODEFICIENCY 92; IMD92 | | | | 1 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0031396 | Abnormal proportion of naive T cells | 4 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0004332 | HP:0032182 | Abnormal proportion of memory T cells | 4 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0004332 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 4 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0004332 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0004332 | HP:0031393 | Abnormal proportion of CD8-positive T cells | 4 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0004332 | HP:0030252 | Absent circulating B cells | 4 | SLC39A7 CL E G H | 7922 | 4927 | OMIM:619693 | AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9 | | | | | | |
HP:0004332 | HP:0031396 | Abnormal proportion of naive T cells | 4 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | | | | 74 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0030252 | Absent circulating B cells | 4 | SPI1 CL E G H | 6688 | 11241 | OMIM:619707 | AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10 | | | | | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0030373 | Abnormal proportion of memory B cells | 4 | TET2 CL E G H | 54790 | 25941 | OMIM:619126 | IMMUNODEFICIENCY 75; IMD75 | | | | 3 | | |
HP:0004332 | HP:0030373 | Abnormal proportion of memory B cells | 4 | TOM1 CL E G H | 10043 | 11982 | OMIM:619510 | IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85 | | | | | | |
HP:0004332 | 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:0004332 | 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:0004332 | HP:0031394 | Abnormal CD4:CD8 ratio | 4 | UNC119 CL E G H | 9094 | 12565 | OMIM:615518 | IMMUNODEFICIENCY 13; IMD13 | | | | 30 | | |
HP:0004332 | 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:0004332 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | UNC119 CL E G H | 9094 | 12565 | OMIM:615518 | IMMUNODEFICIENCY 13; IMD13 | | | | 30 | | |
HP:0004332 | HP:0031394 | Abnormal CD4:CD8 ratio | 4 | WAS CL E G H | 7454 | 12731 | OMIM:300299 | Neutropenia, severe congenital, X-linked | | | | 65 | | |
HP:0004332 | HP:0031392 | Abnormal proportion of CD4-positive T cells | 4 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0004332 | 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:0004332 | HP:0031393 | Abnormal proportion of CD8-positive T cells | 4 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0004332 | HP:0005415 | Decreased proportion of CD8-positive T cells | 4 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0004332 | HP:0031394 | Abnormal CD4:CD8 ratio | 4 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0410374 | Abnormal proportion of naive CD8 T cells | 5 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0030371 | Increased proportion of naive B cells | 5 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0500274 | Decreased proportion of immature gamma-delta T cells | 5 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0030380 | Decreased proportion of transitional B cells | 5 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0032124 | Abnormal proportion of unswitched memory B cells | 5 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0030378 | Decreased proportion of immature B cells | 5 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0031514 | Increased proportion of exhausted T cells | 5 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0030337 | Elevated CD4-positive, CD25-positive regulatory T cell count | 5 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0032129 | Decreased proportion of plasmablasts | 5 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0500273 | Increased proportion of immature gamma-delta T cells | 5 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0030377 | Increased proportion of immature B cells | 5 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0410379 | Abnormal proportion of CD4-positive, alpha-beta memory T cells | 5 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0030336 | Absence of CD4-positive, CD25-positive regulatory T cells | 5 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0032128 | Increased proportion of plasmablasts | 5 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0020112 | Increased proportion of CD4+CD25+ regulatory T cells | 5 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0031398 | Increased proportion of naive T cells | 5 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0500271 | Decreased proportion of gamma-delta T cells | 5 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0030375 | Increased proportion of memory B cells | 5 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0025623 | Abnormal proportion of CD4+ effector memory cells | 5 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0500264 | Increased helper T cell proportion | 5 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0030372 | Decreased proportion of naive B cells | 5 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0033222 | Decreased CD4:CD8 ratio | 5 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0004332 | HP:0030381 | Increased proportion of transitional B cells | 5 | ARHGEF1 CL E G H | 9138 | 681 | OMIM:618459 | Immunodeficiency 62 | | | | | | |
HP:0004332 | HP:0030374 | Decreased proportion of memory B cells | 5 | ARHGEF1 CL E G H | 9138 | 681 | OMIM:618459 | Immunodeficiency 62 | | | | | | |
HP:0004332 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | | | | 3267 | | |
HP:0004332 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | | | | 3267 | | |
HP:0004332 | 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:0004332 | HP:0030374 | Decreased proportion of memory B cells | 5 | BACH2 CL E G H | 60468 | 14078 | OMIM:618394 | IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60 | | | | | | |
HP:0004332 | HP:0032183 | Decreased proportion of memory T cells | 5 | BCL10 CL E G H | 8915 | 989 | OMIM:616098 | IMMUNODEFICIENCY 37; IMD37 | | | | 18 | | |
HP:0004332 | 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:0004332 | HP:0020113 | Decreased proportion of CD4+CD25+ regulatory T cells | 5 | CARD11 CL E G H | 84433 | 16393 | OMIM:615206 | Card11 immunodeficiency | | | | 45 | | |
HP:0004332 | 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:0004332 | 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:0004332 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 87 | | |
HP:0004332 | 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:0004332 | HP:0033222 | Decreased CD4:CD8 ratio | 5 | CASP8 CL E G H | 841 | 1509 | OMIM:607271 | CASPASE 8 DEFICIENCY | | | | 37 | | |
HP:0004332 | 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:0004332 | 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:0004332 | HP:0005415 | Decreased proportion of CD8-positive T cells | 5 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | . | | | 19 | | |
HP:0004332 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | CD4 CL E G H | 920 | 1678 | OMIM:619238 | IMMUNODEFICIENCY 79; IMD79 | | | | 1 | | |
HP:0004332 | HP:0005422 | Absence of CD8-positive T cells | 5 | CD8A CL E G H | 925 | 1706 | OMIM:608957 | Cd8 deficiency, familial | . | | | 4 | | |
HP:0004332 | HP:0005415 | Decreased proportion of CD8-positive T cells | 5 | CD8A CL E G H | 925 | 1706 | OMIM:608957 | Cd8 deficiency, familial | | | | 4 | | |
HP:0004332 | 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:0004332 | 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:0004332 | HP:0030374 | Decreased proportion of memory B cells | 5 | CTNNBL1 CL E G H | 56259 | 15879 | OMIM:619846 | | | | | | | |
HP:0004332 | HP:0020113 | Decreased proportion of CD4+CD25+ regulatory T cells | 5 | CTNNBL1 CL E G H | 56259 | 15879 | OMIM:619846 | | | | | | | |
HP:0004332 | HP:0030386 | Abnormal proportion of class-switched memory B cells | 5 | CTNNBL1 CL E G H | 56259 | 15879 | OMIM:619846 | | | | | | | |
HP:0004332 | HP:0030374 | Decreased proportion of memory B cells | 5 | CTPS1 CL E G H | 1503 | 2519 | OMIM:615897 | IMMUNODEFICIENCY 24; IMD24 | | | | 2 | | |
HP:0004332 | HP:0033222 | Decreased CD4:CD8 ratio | 5 | CTPS1 CL E G H | 1503 | 2519 | OMIM:615897 | IMMUNODEFICIENCY 24; IMD24 | | | | 2 | | |
HP:0004332 | HP:0033222 | Decreased CD4:CD8 ratio | 5 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0004332 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0004332 | 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:0004332 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0033222 | Decreased CD4:CD8 ratio | 5 | GATA2 CL E G H | 2624 | 4171 | OMIM:614038 | Lymphedema, primary, with myelodysplasia | | | | 137 | | |
HP:0004332 | HP:0030374 | Decreased proportion of memory B cells | 5 | HYOU1 CL E G H | 10525 | 16931 | OMIM:233600 | Immunodeficiency 59 and hypoglycemia | | | | | | |
HP:0004332 | 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:0004332 | 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:0004332 | HP:0030374 | Decreased proportion of memory B cells | 5 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | | | | 32 | | |
HP:0004332 | HP:0030374 | Decreased proportion of memory B cells | 5 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0004332 | HP:0005415 | Decreased proportion of CD8-positive T cells | 5 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0004332 | 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:0004332 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0033222 | Decreased CD4:CD8 ratio | 5 | IL2RB CL E G H | 3560 | 6009 | OMIM:618495 | Immunodeficiency 63 with lymphoproliferation and autoimmunity | | | | | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0004332 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0004332 | 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:0004332 | 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:0004332 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | LAT CL E G H | 27040 | 18874 | OMIM:617514 | Immunodeficiency 52 | | | | 2 | | |
HP:0004332 | HP:0500270 | Increased proportion of gamma-delta T cells | 5 | LAT CL E G H | 27040 | 18874 | OMIM:617514 | Immunodeficiency 52 | | | | 2 | | |
HP:0004332 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | LCK CL E G H | 3932 | 6524 | OMIM:615758 | Immunodeficiency 22 | | | | 1 | | |
HP:0004332 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | LCK CL E G H | 3932 | 6524 | OMIM:615758 | Immunodeficiency 22 | | | | 1 | | |
HP:0004332 | HP:0030386 | Abnormal proportion of class-switched memory B cells | 5 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0004332 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0004332 | HP:0030374 | Decreased proportion of memory B cells | 5 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0500270 | Increased proportion of gamma-delta T cells | 5 | LIG1 CL E G H | 3978 | 6598 | OMIM:619774 | IMMUNODEFICIENCY 96; IMD96 | | | | 9 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | MYC CL E G H | 4609 | 7553 | ORPHA:543 | Burkitt lymphoma | | | | 11 | | |
HP:0004332 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | MYC CL E G H | 4609 | 7553 | ORPHA:543 | Burkitt lymphoma | | | | 11 | | |
HP:0004332 | HP:0032184 | Increased proportion of memory T cells | 5 | NCKAP1L CL E G H | 3071 | 4862 | OMIM:618982 | IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72 | | | | | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | | | | 15 | | |
HP:0004332 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | | | | 15 | | |
HP:0004332 | 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:0004332 | 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:0004332 | HP:0030374 | Decreased proportion of memory B cells | 5 | PIK3CD CL E G H | 5293 | 8977 | OMIM:615513 | IMMUNODEFICIENCY 14; IMD14 | | | | 9 | | |
HP:0004332 | 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:0004332 | HP:0030381 | Increased proportion of transitional B cells | 5 | PIK3CD CL E G H | 5293 | 8977 | OMIM:615513 | IMMUNODEFICIENCY 14; IMD14 | | | | 9 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0410373 | Abnormal proportion of naive CD4 T cells | 5 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | | | | 43 | | |
HP:0004332 | HP:0030381 | Increased proportion of transitional B cells | 5 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | | | | 43 | | |
HP:0004332 | HP:0031397 | Decreased proportion of naive T cells | 5 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | | | | 43 | | |
HP:0004332 | 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:0004332 | 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:0004332 | HP:0033221 | Increased CD4:CD8 ratio | 5 | POMP CL E G H | 51371 | 20330 | OMIM:618048 | Proteasome-Associated autoinflammatory syndrome 2 | | | | 2 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 10 | | |
HP:0004332 | 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:0004332 | 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:0004332 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | | | |
HP:0004332 | 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:0004332 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | | | |
HP:0004332 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0004332 | 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:0004332 | HP:0030374 | Decreased proportion of memory B cells | 5 | REL CL E G H | 5966 | 9954 | OMIM:619652 | IMMUNODEFICIENCY 92; IMD92 | | | | 1 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0032184 | Increased proportion of memory T cells | 5 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0004332 | HP:0031397 | Decreased proportion of naive T cells | 5 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0004332 | HP:0410373 | Abnormal proportion of naive CD4 T cells | 5 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0004332 | HP:0500267 | Abnormal proportion of CD4-positive helper T cells | 5 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0004332 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0004332 | HP:0410380 | Abnormal proportion of CD8-positive, alpha-beta memory T cells | 5 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0004332 | 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:0004332 | HP:0031397 | Decreased proportion of naive T cells | 5 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | | | | 74 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0030374 | Decreased proportion of memory B cells | 5 | TET2 CL E G H | 54790 | 25941 | OMIM:619126 | IMMUNODEFICIENCY 75; IMD75 | | | | 3 | | |
HP:0004332 | 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:0004332 | HP:0030374 | Decreased proportion of memory B cells | 5 | TOM1 CL E G H | 10043 | 11982 | OMIM:619510 | IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85 | | | | | | |
HP:0004332 | 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:0004332 | 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:0004332 | HP:0033222 | Decreased CD4:CD8 ratio | 5 | UNC119 CL E G H | 9094 | 12565 | OMIM:615518 | IMMUNODEFICIENCY 13; IMD13 | | | | 30 | | |
HP:0004332 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | UNC119 CL E G H | 9094 | 12565 | OMIM:615518 | IMMUNODEFICIENCY 13; IMD13 | | | | 30 | | |
HP:0004332 | HP:0033222 | Decreased CD4:CD8 ratio | 5 | WAS CL E G H | 7454 | 12731 | OMIM:300299 | Neutropenia, severe congenital, X-linked | | | | 65 | | |
HP:0004332 | 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:0004332 | HP:0005415 | Decreased proportion of CD8-positive T cells | 5 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0004332 | HP:0032218 | Decreased proportion of CD4-positive T cells | 5 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0005422 | Absence of CD8-positive T cells | 5 | ZAP70 CL E G H | 7535 | 12858 | OMIM:269840 | SELECTIVE T-CELL DEFECT | | | | 46 | | |
HP:0004332 | HP:0025620 | Abnormal proportion of CD4+ central memory cells | 6 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0030385 | Increased proportion of marginal zone B cells | 6 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0500274 | Decreased proportion of immature gamma-delta T cells | 6 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0410384 | Abnormal proportion of central memory CD8-positive, alpha-beta T cells | 6 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0032125 | Increased proportion of unswitched memory B cells | 6 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0410383 | Abnormal proportion of effector memory CD8-positive, alpha-beta T cells | 6 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0500273 | Increased proportion of immature gamma-delta T cells | 6 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0410381 | Abnormal proportion of central memory CD4-positive, alpha-beta T cells | 6 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0025625 | Elevated proportion of CD4+ effector memory T cells | 6 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0410391 | Increased proportion of CD4-positive, alpha-beta memory T cells | 6 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0025624 | Reduced proportion of CD4+ effector memory T cells | 6 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0410376 | Increased proportion of naive CD8 T cells | 6 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0410375 | Increased proportion of naive CD4 T cells | 6 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0030387 | Increased proportion of class-switched memory B cells | 6 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0032126 | Decreased proportion of unswitched memory B cells | 6 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 6 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | . | | | 3267 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0005422 | Absence of CD8-positive T cells | 6 | CD8A CL E G H | 925 | 1706 | OMIM:608957 | Cd8 deficiency, familial | . | | | 4 | | |
HP:0004332 | 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:0004332 | HP:0030388 | Decreased proportion of class-switched memory B cells | 6 | CTNNBL1 CL E G H | 56259 | 15879 | OMIM:619846 | | | | | | | |
HP:0004332 | 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:0004332 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 6 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | . | | | 40 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 6 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0004332 | 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:0004332 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 6 | LCK CL E G H | 3932 | 6524 | OMIM:615758 | Immunodeficiency 22 | . | | | 1 | | |
HP:0004332 | HP:0030388 | Decreased proportion of class-switched memory B cells | 6 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0410377 | Decreased proportion of naive CD8 T cells | 6 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | | | | 43 | | |
HP:0004332 | HP:0410378 | Decreased proportion of naive CD4 T cells | 6 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | | | | 43 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0005407 | Decreased proportion of CD4-positive helper T cells | 6 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0004332 | HP:0410377 | Decreased proportion of naive CD8 T cells | 6 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0004332 | HP:0410378 | Decreased proportion of naive CD4 T cells | 6 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0004332 | HP:0020177 | Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells | 6 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0004332 | HP:0410392 | Increased proportion of CD8-positive, alpha-beta memory T cells | 6 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | 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:0004332 | HP:0005422 | Absence of CD8-positive T cells | 6 | ZAP70 CL E G H | 7535 | 12858 | OMIM:269840 | SELECTIVE T-CELL DEFECT | | | | 46 | | |
HP:0004332 | HP:0410396 | Increased proportion of central memory CD8-positive, alpha-beta T cells | 7 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0410394 | Increased proportion of effector memory CD4-positive, alpha-beta T cells | 7 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0410393 | Increased proportion of central memory CD4-positive, alpha-beta T cells | 7 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0410390 | Decreased proportion of effector memory CD8-positive, alpha-beta T cells | 7 | CL E G H | | | | | | | | | | |
HP:0004332 | HP:0410389 | Decreased proportion of central memory CD8-positive, alpha-beta T cells | 7 | CL E G H | | | | | | | | | | |
HP:0004332 | 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:0004332 | 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:0004332 | HP:0500265 | Increased proportion of CD8-positive, alpha-beta TEMRA T cells | 7 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0004332 | 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 | | |
HP:0004332 | 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 | | |