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:0001581 | HP:0001581 | Recurrent skin infections | 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:0001581 | HP:0001581 | Recurrent skin infections | 0 | ADAM17 CL E G H | 6868 | 195 | ORPHA:294023 | Neonatal inflammatory skin and bowel disease | | | | 2 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | AIRE CL E G H | 326 | 360 | ORPHA:3453 | Autoimmune polyendocrinopathy type 1 | | | | 92 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | HP:0040283 - Occasional | | | 169 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | BLNK CL E G H | 29760 | 14211 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 4 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | BLOC1S6 CL E G H | 26258 | 8549 | OMIM:614171 | Hermansky-Pudlak syndrome 9 | | | | 35 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | HP:0040283 - Occasional | | | 276 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | BTD CL E G H | 686 | 1122 | OMIM:253260 | Biotinidase deficiencymultiple carboxylase deficiency, late-onset | . | | | 223 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | BTK CL E G H | 695 | 1133 | OMIM:300755 | Agammaglobulinemia, X-linked | | | | 109 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | BTK CL E G H | 695 | 1133 | OMIM:307200 | Isolated growth hormone deficiency, type III, with agammaglobulinemia | | | | 109 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | BTK CL E G H | 695 | 1133 | ORPHA:47 | X-linked agammaglobulinemia | | | | 109 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | CARD9 CL E G H | 64170 | 16391 | OMIM:212050 | Candidiasis, familial chronic mucocutaneous, autosomal recessive | | | | 45 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 8 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 18 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 24 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | | | | 19 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | CD40LG CL E G H | 959 | 11935 | OMIM:308230 | Immunodeficiency, X-linked, with hyper-IgM | | | | 33 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | CD79A CL E G H | 973 | 1698 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 9 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | CD79B CL E G H | 974 | 1699 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 6 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | HP:0040283 - Occasional | | | 636 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | CFI CL E G H | 3426 | 5394 | OMIM:610984 | Complement factor I deficiency | . | | | 57 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | CHST14 CL E G H | 113189 | 24464 | OMIM:601776 | Ehlers-Danlos syndrome, musculocontractural type 1 | . | | | 27 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | CHST14 CL E G H | 113189 | 24464 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 27 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | CIB1 CL E G H | 10519 | 16920 | ORPHA:302 | Epidermodysplasia verruciformis | HP:0040281 - Very frequent | | | | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | CIITA CL E G H | 4261 | 7067 | OMIM:209920 | Bare lymphocyte syndrome, type II | | | | 118 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | CIITA CL E G H | 4261 | 7067 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 118 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | CLEC7A CL E G H | 64581 | 14558 | OMIM:613108 | CANDIDIASIS, FAMILIAL, 4; CANDF4 | | | | 3 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | CLPB CL E G H | 81570 | 30664 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 38 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:89842 | Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form | HP:0040282 - Frequent | | | 263 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040283 - Occasional | | | 263 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | CTSC CL E G H | 1075 | 2528 | OMIM:245010 | Haim-Munk syndrome | | | | 50 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | CTSC CL E G H | 1075 | 2528 | ORPHA:678 | Papillon-Lefèvre syndrome | HP:0040282 - Frequent | | | 50 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | CYBA CL E G H | 1535 | 2577 | OMIM:233690 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE | | | | 27 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | CYBB CL E G H | 1536 | 2578 | OMIM:306400 | Chronic granulomatous disease, X-linked | | | | 111 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:275 | Severe combined immunodeficiency due to DCLRE1C deficiency | | | | 94 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | | | | 6 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | DOCK8 CL E G H | 81704 | 19191 | ORPHA:217390 | Combined immunodeficiency due to DOCK8 deficiency | | | | 217 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | DSE CL E G H | 29940 | 21144 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | DSG1 CL E G H | 1828 | 3048 | OMIM:615508 | Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige | . | | | 16 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | EGFR CL E G H | 1956 | 3236 | ORPHA:294023 | Neonatal inflammatory skin and bowel disease | | | | 257 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | ELANE CL E G H | 1991 | 3309 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 79 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | ELANE CL E G H | 1991 | 3309 | ORPHA:2686 | Cyclic neutropenia | HP:0040282 - Frequent | | | 79 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | EPHB4 CL E G H | 2050 | 3395 | ORPHA:90186 | Meige disease | HP:0040282 - Frequent | | | 3 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | FERMT1 CL E G H | 55612 | 15889 | ORPHA:2908 | Kindler epidermolysis bullosa | HP:0040282 - Frequent | | | 136 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | FERMT3 CL E G H | 83706 | 23151 | OMIM:612840 | Leukocyte adhesion deficiency, type III | | | | 23 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | FOXC2 CL E G H | 2303 | 3801 | ORPHA:33001 | Lymphedema-distichiasis syndrome | HP:0040283 - Occasional | | | 20 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | FOXP1 CL E G H | 27086 | 3823 | ORPHA:391372 | Intellectual disability-severe speech delay-mild dysmorphism syndrome | HP:0040283 - Occasional | | | 184 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | | | | 29 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | GFI1 CL E G H | 2672 | 4237 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 56 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | GINS1 CL E G H | 9837 | 28980 | OMIM:617827 | Immunodeficiency 55 | . | | | | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:148210 | Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant | | | | 199 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | GJC2 CL E G H | 57165 | 17494 | OMIM:613480 | Lymphedema, hereditary, IC | . | | | 37 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | HYOU1 CL E G H | 10525 | 16931 | OMIM:233600 | Immunodeficiency 59 and hypoglycemia | . | | | | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | IGHM CL E G H | 3507 | 5541 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 7 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | IGLL1 CL E G H | 3543 | 5870 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 3 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | IL10RA CL E G H | 3587 | 5964 | OMIM:613148 | INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28 | | | | 64 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | IL17F CL E G H | 112744 | 16404 | OMIM:613956 | CANDIDIASIS, FAMILIAL, 6; CANDF6 | | | | 14 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | IL17RA CL E G H | 23765 | 5985 | OMIM:613953 | Immunodeficiency 51 | | | | 196 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | IL17RC CL E G H | 84818 | 18358 | OMIM:616445 | Candidiasis, familial, 9 | | | | 4 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | IL2RG CL E G H | 3561 | 6010 | OMIM:300400 | Severe combined immunodeficiency, X-linked | | | | 48 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | | | | 48 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | IL6R CL E G H | 3570 | 6019 | OMIM:618944 | HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5 | | | | 1 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:619752 | HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A | | | | | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | IL7 CL E G H | 3574 | 6023 | ORPHA:302 | Epidermodysplasia verruciformis | HP:0040281 - Very frequent | | | | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 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:0001581 | HP:0001581 | Recurrent skin infections | 0 | ITGA6 CL E G H | 3655 | 6142 | ORPHA:79403 | Junctional epidermolysis bullosa with pyloric atresia | HP:0040282 - Frequent | | | 79 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | ITGB2 CL E G H | 3689 | 6155 | OMIM:116920 | Leukocyte adhesion deficiency, type I | | | | 114 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:79403 | Junctional epidermolysis bullosa with pyloric atresia | HP:0040282 - Frequent | | | 124 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | | | | 140 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | KRT1 CL E G H | 3848 | 6412 | ORPHA:79503 | Ichthyosis hystrix of Curth-Macklin | HP:0040281 - Very frequent | | | 100 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | HP:0040282 - Frequent | | | 110 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | HP:0040282 - Frequent | | | 173 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040281 - Very frequent | | | 116 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040281 - Very frequent | | | 167 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040281 - Very frequent | | | 135 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | LRRC8A CL E G H | 56262 | 19027 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 3 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | | | | 239 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | LYST CL E G H | 1130 | 1968 | OMIM:214500 | Chediak-Higashi syndrome | | | | 239 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | MBL2 CL E G H | 4153 | 6922 | OMIM:614372 | Mannose-Binding lectin deficiency | | | | 54 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | MMP1 CL E G H | 4312 | 7155 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040283 - Occasional | | | 6 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | MRTFA CL E G H | 57591 | 14334 | OMIM:618847 | IMMUNODEFICIENCY 66; IMD66 | | | | | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | MVK CL E G H | 4598 | 7530 | OMIM:260920 | Hyper-Igd syndrome | | | | 150 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | MYD88 CL E G H | 4615 | 7562 | ORPHA:183713 | Bacterial susceptibility due to TLR signaling pathway deficiency | | | | 9 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | MYD88 CL E G H | 4615 | 7562 | OMIM:612260 | MYD88 DEFICIENCY; MYD88D | | | | 9 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | NCF1 CL E G H | 653361 | 7660 | OMIM:233700 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I | | | | 13 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | NCF2 CL E G H | 4688 | 7661 | OMIM:233710 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II | | | | 67 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | NFE2L2 CL E G H | 4780 | 7782 | OMIM:617744 | Immunodeficiency, developmental delay, and hypohomocysteinemia | . | | | 20 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | NFKB1 CL E G H | 4790 | 7794 | OMIM:616576 | IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12 | | | | 7 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | HP:0040283 - Occasional | | | 79 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | OTULIN CL E G H | 90268 | 25118 | OMIM:619986 | | | | | 3 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | PGM3 CL E G H | 5238 | 8907 | OMIM:615816 | Immunodeficiency 23 | | | | 15 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040281 - Very frequent | | | 15 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 43 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | PKP1 CL E G H | 5317 | 9023 | ORPHA:158668 | Ectodermal dysplasia-skin fragility syndrome | HP:0040283 - Occasional | | | 107 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | PRDM12 CL E G H | 59335 | 13997 | OMIM:616488 | Neuropathy, hereditary sensory and autonomic, type VIII | | | | 6 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | PSEN1 CL E G H | 5663 | 9508 | OMIM:613737 | Acne inversa, familial, 3 | | | | 241 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | PSENEN CL E G H | 55851 | 30100 | OMIM:613736 | Acne inversa, familial, 2, with or without dowling-degos disease | | | | 2 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | RFX5 CL E G H | 5993 | 9986 | OMIM:209920 | Bare lymphocyte syndrome, type II | | | | 38 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | RFX5 CL E G H | 5993 | 9986 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 38 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | RFXANK CL E G H | 8625 | 9987 | OMIM:209920 | Bare lymphocyte syndrome, type II | | | | 26 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | RFXANK CL E G H | 8625 | 9987 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 26 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | RFXAP CL E G H | 5994 | 9988 | OMIM:209920 | Bare lymphocyte syndrome, type II | | | | 34 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | RFXAP CL E G H | 5994 | 9988 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 34 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | SHANK3 CL E G H | 85358 | 14294 | ORPHA:48652 | Monosomy 22q13.3 | HP:0040283 - Occasional | | | 53 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | | | | 49 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | SREBF1 CL E G H | 6720 | 11289 | OMIM:158310 | Mucoepithelial dysplasia, hereditary | | | | 1 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | 89 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | STAT1 CL E G H | 6772 | 11362 | OMIM:614162 | Immunodeficiency 31C | | | | 89 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | STAT3 CL E G H | 6774 | 11364 | OMIM:147060 | Hyper-IgE recurrent infection syndrome | | | | 110 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | TCF3 CL E G H | 6929 | 11633 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 2 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 82 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | TFRC CL E G H | 7037 | 11763 | OMIM:616740 | Immunodeficiency 46 | | | | 1 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | TMC6 CL E G H | 11322 | 18021 | ORPHA:302 | Epidermodysplasia verruciformis | HP:0040281 - Very frequent | | | 10 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | TMC8 CL E G H | 147138 | 20474 | ORPHA:302 | Epidermodysplasia verruciformis | HP:0040281 - Very frequent | | | 4 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | HP:0040283 - Occasional | | | 911 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | | | | 7 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | UROD CL E G H | 7389 | 12591 | ORPHA:95159 | Hepatoerythropoietic porphyria | | | | 31 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | | | | 41 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | HP:0040283 - Occasional | | | 1 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | HP:0040283 - Occasional | | | 7 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | XIAP CL E G H | 331 | 592 | OMIM:300635 | Lymphoproliferative syndrome, X-linked, 2 | . | | | 81 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | | | | 46 | | |
HP:0001581 | HP:0001581 | Recurrent skin infections | 0 | ZNF341 CL E G H | 84905 | 15992 | OMIM:618282 | Hyper-Ige recurrent infection syndrome 3, autosomal recessive | . | | | 1 | | |
HP:0001581 | HP:0011371 | Recurrent viral skin infections | 1 | CL E G H | | | | | | | | | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 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:0001581 | HP:0005406 | Recurrent bacterial skin infections | 1 | ADAM17 CL E G H | 6868 | 195 | ORPHA:294023 | Neonatal inflammatory skin and bowel disease | HP:0040282 - Frequent | | | 2 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | AIRE CL E G H | 326 | 360 | ORPHA:3453 | Autoimmune polyendocrinopathy type 1 | | | | 92 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0001581 | HP:0005406 | Recurrent bacterial skin infections | 1 | BTK CL E G H | 695 | 1133 | OMIM:300755 | Agammaglobulinemia, X-linked | | | | 109 | | |
HP:0001581 | HP:0005406 | Recurrent bacterial skin infections | 1 | BTK CL E G H | 695 | 1133 | OMIM:307200 | Isolated growth hormone deficiency, type III, with agammaglobulinemia | | | | 109 | | |
HP:0001581 | HP:0005406 | Recurrent bacterial skin infections | 1 | BTK CL E G H | 695 | 1133 | ORPHA:47 | X-linked agammaglobulinemia | | | | 109 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | CARD9 CL E G H | 64170 | 16391 | OMIM:212050 | Candidiasis, familial chronic mucocutaneous, autosomal recessive | | | | 45 | | |
HP:0001581 | HP:0005406 | Recurrent bacterial skin infections | 1 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 8 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 18 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 24 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | | | | 19 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | CD40LG CL E G H | 959 | 11935 | OMIM:308230 | Immunodeficiency, X-linked, with hyper-IgM | | | | 33 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | CIITA CL E G H | 4261 | 7067 | OMIM:209920 | Bare lymphocyte syndrome, type II | | | | 118 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | CIITA CL E G H | 4261 | 7067 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 118 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | CLEC7A CL E G H | 64581 | 14558 | OMIM:613108 | CANDIDIASIS, FAMILIAL, 4; CANDF4 | | | | 3 | | |
HP:0001581 | HP:0005406 | Recurrent bacterial skin infections | 1 | CTSC CL E G H | 1075 | 2528 | OMIM:245010 | Haim-Munk syndrome | . | | | 50 | | |
HP:0001581 | HP:0005406 | Recurrent bacterial skin infections | 1 | CTSC CL E G H | 1075 | 2528 | ORPHA:678 | Papillon-Lefèvre syndrome | | | | 50 | | |
HP:0001581 | HP:0005406 | Recurrent bacterial skin infections | 1 | CYBA CL E G H | 1535 | 2577 | OMIM:233690 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE | . | | | 27 | | |
HP:0001581 | HP:0005406 | Recurrent bacterial skin infections | 1 | CYBB CL E G H | 1536 | 2578 | OMIM:306400 | Chronic granulomatous disease, X-linked | . | | | 111 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:275 | Severe combined immunodeficiency due to DCLRE1C deficiency | | | | 94 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | | | | 6 | | |
HP:0001581 | HP:0005406 | Recurrent bacterial skin infections | 1 | DOCK8 CL E G H | 81704 | 19191 | ORPHA:217390 | Combined immunodeficiency due to DOCK8 deficiency | HP:0040281 - Very frequent | | | 217 | | |
HP:0001581 | HP:0005406 | Recurrent bacterial skin infections | 1 | EGFR CL E G H | 1956 | 3236 | ORPHA:294023 | Neonatal inflammatory skin and bowel disease | HP:0040282 - Frequent | | | 257 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0001581 | HP:0005406 | Recurrent bacterial skin infections | 1 | EPHB4 CL E G H | 2050 | 3395 | ORPHA:90186 | Meige disease | HP:0040282 - Frequent | | | 3 | | |
HP:0001581 | HP:0005406 | Recurrent bacterial skin infections | 1 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040282 - Frequent | | | 29 | | |
HP:0001581 | HP:0005406 | Recurrent bacterial skin infections | 1 | GJB2 CL E G H | 2706 | 4284 | OMIM:148210 | Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant | . | | | 199 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0001581 | HP:0005406 | Recurrent bacterial skin infections | 1 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | HP:0040281 - Very frequent | | | 199 | | |
HP:0001581 | HP:0005406 | Recurrent bacterial skin infections | 1 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | HP:0040281 - Very frequent | | | 56 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0001581 | HP:0005406 | Recurrent bacterial skin infections | 1 | IL10RA CL E G H | 3587 | 5964 | OMIM:613148 | INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28 | | | | 64 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | IL17F CL E G H | 112744 | 16404 | OMIM:613956 | CANDIDIASIS, FAMILIAL, 6; CANDF6 | | | | 14 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | IL17RA CL E G H | 23765 | 5985 | OMIM:613953 | Immunodeficiency 51 | | | | 196 | | |
HP:0001581 | HP:0005406 | Recurrent bacterial skin infections | 1 | IL17RA CL E G H | 23765 | 5985 | OMIM:613953 | Immunodeficiency 51 | | | | 196 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | IL17RC CL E G H | 84818 | 18358 | OMIM:616445 | Candidiasis, familial, 9 | | | | 4 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | IL2RG CL E G H | 3561 | 6010 | OMIM:300400 | Severe combined immunodeficiency, X-linked | | | | 48 | | |
HP:0001581 | HP:0005406 | Recurrent bacterial skin infections | 1 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | HP:0040283 - Occasional | | | 48 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | HP:0040283 - Occasional | | | 48 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | IL6ST CL E G H | 3572 | 6021 | OMIM:619752 | HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A | | | | | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 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:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | ITGB2 CL E G H | 3689 | 6155 | OMIM:116920 | Leukocyte adhesion deficiency, type I | | | | 114 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | | | | 140 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0001581 | HP:0005406 | Recurrent bacterial skin infections | 1 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | | | | 116 | | |
HP:0001581 | HP:0005406 | Recurrent bacterial skin infections | 1 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | | | | 167 | | |
HP:0001581 | HP:0005406 | Recurrent bacterial skin infections | 1 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | | | | 135 | | |
HP:0001581 | HP:0005406 | Recurrent bacterial skin infections | 1 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0001581 | HP:0005406 | Recurrent bacterial skin infections | 1 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040282 - Frequent | | | 239 | | |
HP:0001581 | HP:0005406 | Recurrent bacterial skin infections | 1 | LYST CL E G H | 1130 | 1968 | OMIM:214500 | Chediak-Higashi syndrome | | | | 239 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | MVK CL E G H | 4598 | 7530 | OMIM:260920 | Hyper-Igd syndrome | | | | 150 | | |
HP:0001581 | HP:0005406 | Recurrent bacterial skin infections | 1 | MYD88 CL E G H | 4615 | 7562 | ORPHA:183713 | Bacterial susceptibility due to TLR signaling pathway deficiency | HP:0040282 - Frequent | | | 9 | | |
HP:0001581 | HP:0005406 | Recurrent bacterial skin infections | 1 | NCF1 CL E G H | 653361 | 7660 | OMIM:233700 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I | . | | | 13 | | |
HP:0001581 | HP:0005406 | Recurrent bacterial skin infections | 1 | NCF2 CL E G H | 4688 | 7661 | OMIM:233710 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II | . | | | 67 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0001581 | HP:0005406 | Recurrent bacterial skin infections | 1 | OTULIN CL E G H | 90268 | 25118 | OMIM:619986 | | | | | 3 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | PGM3 CL E G H | 5238 | 8907 | OMIM:615816 | Immunodeficiency 23 | | | | 15 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0001581 | HP:0005406 | Recurrent bacterial skin infections | 1 | PSEN1 CL E G H | 5663 | 9508 | OMIM:613737 | Acne inversa, familial, 3 | | | | 241 | | |
HP:0001581 | HP:0005406 | Recurrent bacterial skin infections | 1 | PSENEN CL E G H | 55851 | 30100 | OMIM:613736 | Acne inversa, familial, 2, with or without dowling-degos disease | | | | 2 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | RFX5 CL E G H | 5993 | 9986 | OMIM:209920 | Bare lymphocyte syndrome, type II | | | | 38 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | RFX5 CL E G H | 5993 | 9986 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 38 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | RFXANK CL E G H | 8625 | 9987 | OMIM:209920 | Bare lymphocyte syndrome, type II | | | | 26 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | RFXANK CL E G H | 8625 | 9987 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 26 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | RFXAP CL E G H | 5994 | 9988 | OMIM:209920 | Bare lymphocyte syndrome, type II | | | | 34 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | RFXAP CL E G H | 5994 | 9988 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 34 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | | | | 49 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | SREBF1 CL E G H | 6720 | 11289 | OMIM:158310 | Mucoepithelial dysplasia, hereditary | | | | 1 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | 89 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | STAT1 CL E G H | 6772 | 11362 | OMIM:614162 | Immunodeficiency 31C | | | | 89 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | STAT3 CL E G H | 6774 | 11364 | OMIM:147060 | Hyper-IgE recurrent infection syndrome | | | | 110 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | TFRC CL E G H | 7037 | 11763 | OMIM:616740 | Immunodeficiency 46 | | | | 1 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0001581 | HP:0005406 | Recurrent bacterial skin infections | 1 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | | | | 7 | | |
HP:0001581 | HP:0005406 | Recurrent bacterial skin infections | 1 | UROD CL E G H | 7389 | 12591 | ORPHA:95159 | Hepatoerythropoietic porphyria | HP:0040282 - Frequent | | | 31 | | |
HP:0001581 | HP:0005406 | Recurrent bacterial skin infections | 1 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040282 - Frequent | | | 41 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | | | | 46 | | |
HP:0001581 | HP:0005406 | Recurrent bacterial skin infections | 1 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | HP:0040283 - Occasional | | | 46 | | |
HP:0001581 | HP:0011370 | Recurrent cutaneous fungal infections | 1 | ZNF341 CL E G H | 84905 | 15992 | OMIM:618282 | Hyper-Ige recurrent infection syndrome 3, autosomal recessive | | | | 1 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 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:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | AIRE CL E G H | 326 | 360 | ORPHA:3453 | Autoimmune polyendocrinopathy type 1 | HP:0040281 - Very frequent | | | 92 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0001581 | HP:0000999 | Pyoderma | 2 | BTK CL E G H | 695 | 1133 | OMIM:300755 | Agammaglobulinemia, X-linked | . | | | 109 | | |
HP:0001581 | HP:0000999 | Pyoderma | 2 | BTK CL E G H | 695 | 1133 | OMIM:307200 | Isolated growth hormone deficiency, type III, with agammaglobulinemia | . | | | 109 | | |
HP:0001581 | HP:0100838 | Recurrent cutaneous abscess formation | 2 | BTK CL E G H | 695 | 1133 | ORPHA:47 | X-linked agammaglobulinemia | HP:0040281 - Very frequent | | | 109 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | CARD9 CL E G H | 64170 | 16391 | OMIM:212050 | Candidiasis, familial chronic mucocutaneous, autosomal recessive | | | | 45 | | |
HP:0001581 | HP:0100838 | Recurrent cutaneous abscess formation | 2 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 8 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 18 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 24 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | | | | 19 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | CD40LG CL E G H | 959 | 11935 | OMIM:308230 | Immunodeficiency, X-linked, with hyper-IgM | | | | 33 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | CIITA CL E G H | 4261 | 7067 | OMIM:209920 | Bare lymphocyte syndrome, type II | . | | | 118 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | CIITA CL E G H | 4261 | 7067 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040282 - Frequent | | | 118 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | CLEC7A CL E G H | 64581 | 14558 | OMIM:613108 | CANDIDIASIS, FAMILIAL, 4; CANDF4 | | | | 3 | | |
HP:0001581 | HP:0011132 | Chronic furunculosis | 2 | CTSC CL E G H | 1075 | 2528 | ORPHA:678 | Papillon-Lefèvre syndrome | HP:0040282 - Frequent | | | 50 | | |
HP:0001581 | HP:0100838 | Recurrent cutaneous abscess formation | 2 | CTSC CL E G H | 1075 | 2528 | ORPHA:678 | Papillon-Lefèvre syndrome | HP:0040282 - Frequent | | | 50 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:275 | Severe combined immunodeficiency due to DCLRE1C deficiency | | | | 94 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | | | | 6 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | . | | | 40 | | |
HP:0001581 | HP:0100838 | Recurrent cutaneous abscess formation | 2 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0001581 | HP:0100838 | Recurrent cutaneous abscess formation | 2 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0001581 | HP:0000999 | Pyoderma | 2 | IL10RA CL E G H | 3587 | 5964 | OMIM:613148 | INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28 | | | | 64 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | IL17F CL E G H | 112744 | 16404 | OMIM:613956 | CANDIDIASIS, FAMILIAL, 6; CANDF6 | | | | 14 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | IL17RA CL E G H | 23765 | 5985 | OMIM:613953 | Immunodeficiency 51 | | | | 196 | | |
HP:0001581 | HP:0011132 | Chronic furunculosis | 2 | IL17RA CL E G H | 23765 | 5985 | OMIM:613953 | Immunodeficiency 51 | | | | 196 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | IL17RC CL E G H | 84818 | 18358 | OMIM:616445 | Candidiasis, familial, 9 | | | | 4 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | IL2RG CL E G H | 3561 | 6010 | OMIM:300400 | Severe combined immunodeficiency, X-linked | | | | 48 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | HP:0040283 - Occasional | | | 48 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | IL6ST CL E G H | 3572 | 6021 | OMIM:619752 | HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A | | | | | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 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:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | ITGB2 CL E G H | 3689 | 6155 | OMIM:116920 | Leukocyte adhesion deficiency, type I | | | | 114 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | | | | 140 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0001581 | HP:0000999 | Pyoderma | 2 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040284 - Very rare | | | 116 | | |
HP:0001581 | HP:0000999 | Pyoderma | 2 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040284 - Very rare | | | 167 | | |
HP:0001581 | HP:0000999 | Pyoderma | 2 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040284 - Very rare | | | 135 | | |
HP:0001581 | HP:0100838 | Recurrent cutaneous abscess formation | 2 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | MVK CL E G H | 4598 | 7530 | OMIM:260920 | Hyper-Igd syndrome | | | | 150 | | |
HP:0001581 | HP:0011132 | Chronic furunculosis | 2 | OTULIN CL E G H | 90268 | 25118 | OMIM:619986 | | | | | 3 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | PGM3 CL E G H | 5238 | 8907 | OMIM:615816 | Immunodeficiency 23 | | | | 15 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0001581 | HP:0011132 | Chronic furunculosis | 2 | PSEN1 CL E G H | 5663 | 9508 | OMIM:613737 | Acne inversa, familial, 3 | . | | | 241 | | |
HP:0001581 | HP:0100838 | Recurrent cutaneous abscess formation | 2 | PSEN1 CL E G H | 5663 | 9508 | OMIM:613737 | Acne inversa, familial, 3 | | | | 241 | | |
HP:0001581 | HP:0011132 | Chronic furunculosis | 2 | PSENEN CL E G H | 55851 | 30100 | OMIM:613736 | Acne inversa, familial, 2, with or without dowling-degos disease | . | | | 2 | | |
HP:0001581 | HP:0100838 | Recurrent cutaneous abscess formation | 2 | PSENEN CL E G H | 55851 | 30100 | OMIM:613736 | Acne inversa, familial, 2, with or without dowling-degos disease | . | | | 2 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | RFX5 CL E G H | 5993 | 9986 | OMIM:209920 | Bare lymphocyte syndrome, type II | . | | | 38 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | RFX5 CL E G H | 5993 | 9986 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040282 - Frequent | | | 38 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | RFXANK CL E G H | 8625 | 9987 | OMIM:209920 | Bare lymphocyte syndrome, type II | . | | | 26 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | RFXANK CL E G H | 8625 | 9987 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040282 - Frequent | | | 26 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | RFXAP CL E G H | 5994 | 9988 | OMIM:209920 | Bare lymphocyte syndrome, type II | . | | | 34 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | RFXAP CL E G H | 5994 | 9988 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040282 - Frequent | | | 34 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | HP:0040283 - Occasional | | | 49 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | SREBF1 CL E G H | 6720 | 11289 | OMIM:158310 | Mucoepithelial dysplasia, hereditary | . | | | 1 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040281 - Very frequent | | | 89 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | STAT1 CL E G H | 6772 | 11362 | OMIM:614162 | Immunodeficiency 31C | . | | | 89 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | STAT3 CL E G H | 6774 | 11364 | OMIM:147060 | Hyper-IgE recurrent infection syndrome | | | | 110 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | TFRC CL E G H | 7037 | 11763 | OMIM:616740 | Immunodeficiency 46 | | | | 1 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001581 | HP:0100838 | Recurrent cutaneous abscess formation | 2 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | HP:0040283 - Occasional | | | 7 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | HP:0040283 - Occasional | | | 46 | | |
HP:0001581 | HP:0002728 | Chronic mucocutaneous candidiasis | 2 | ZNF341 CL E G H | 84905 | 15992 | OMIM:618282 | Hyper-Ige recurrent infection syndrome 3, autosomal recessive | . | | | 1 | | |
HP:0001581 | HP:0005411 | Chronic intestinal candidiasis | 3 | CL E G H | | | | | | | | | | |
HP:0001581 | HP:0009098 | Chronic oral candidiasis | 3 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0001581 | HP:0009098 | Chronic oral candidiasis | 3 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0001581 | HP:0009098 | Chronic oral candidiasis | 3 | CARD9 CL E G H | 64170 | 16391 | OMIM:212050 | Candidiasis, familial chronic mucocutaneous, autosomal recessive | | | | 45 | | |
HP:0001581 | HP:0009098 | Chronic oral candidiasis | 3 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040283 - Occasional | | | 8 | | |
HP:0001581 | HP:0009098 | Chronic oral candidiasis | 3 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040283 - Occasional | | | 18 | | |
HP:0001581 | HP:0009098 | Chronic oral candidiasis | 3 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040283 - Occasional | | | 24 | | |
HP:0001581 | HP:0009098 | Chronic oral candidiasis | 3 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | | | | 19 | | |
HP:0001581 | HP:0009098 | Chronic oral candidiasis | 3 | CD40LG CL E G H | 959 | 11935 | OMIM:308230 | Immunodeficiency, X-linked, with hyper-IgM | | | | 33 | | |
HP:0001581 | HP:0012204 | Recurrent vulvovaginal candidiasis | 3 | CLEC7A CL E G H | 64581 | 14558 | OMIM:613108 | CANDIDIASIS, FAMILIAL, 4; CANDF4 | | | | 3 | | |
HP:0001581 | HP:0009098 | Chronic oral candidiasis | 3 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:275 | Severe combined immunodeficiency due to DCLRE1C deficiency | HP:0040283 - Occasional | | | 94 | | |
HP:0001581 | HP:0009098 | Chronic oral candidiasis | 3 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | | | | 6 | | |
HP:0001581 | HP:0009098 | Chronic oral candidiasis | 3 | IL17RA CL E G H | 23765 | 5985 | OMIM:613953 | Immunodeficiency 51 | | | | 196 | | |
HP:0001581 | HP:0009098 | Chronic oral candidiasis | 3 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0001581 | HP:0009098 | Chronic oral candidiasis | 3 | IL2RG CL E G H | 3561 | 6010 | OMIM:300400 | Severe combined immunodeficiency, X-linked | | | | 48 | | |
HP:0001581 | HP:0009098 | Chronic oral candidiasis | 3 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | HP:0040283 - Occasional | | | 48 | | |
HP:0001581 | HP:0009098 | Chronic oral candidiasis | 3 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | HP:0040282 - Frequent | | | 140 | | |
HP:0001581 | HP:0009098 | Chronic oral candidiasis | 3 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 1 | | |
HP:0001581 | HP:0009098 | Chronic oral candidiasis | 3 | MVK CL E G H | 4598 | 7530 | OMIM:260920 | Hyper-Igd syndrome | | | | 150 | | |
HP:0001581 | HP:0009098 | Chronic oral candidiasis | 3 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 9 | | |
HP:0001581 | HP:0009098 | Chronic oral candidiasis | 3 | STAT1 CL E G H | 6772 | 11362 | OMIM:614162 | Immunodeficiency 31C | | | | 89 | | |
HP:0001581 | HP:0012204 | Recurrent vulvovaginal candidiasis | 3 | STAT1 CL E G H | 6772 | 11362 | OMIM:614162 | Immunodeficiency 31C | | | | 89 | | |
HP:0001581 | HP:0009098 | Chronic oral candidiasis | 3 | TFRC CL E G H | 7037 | 11763 | OMIM:616740 | Immunodeficiency 46 | | | | 1 | | |
HP:0001581 | HP:0009098 | Chronic oral candidiasis | 3 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | |
HP:0001581 | HP:0009098 | Chronic oral candidiasis | 3 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |
HP:0001581 | HP:0009098 | Chronic oral candidiasis | 3 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | HP:0040282 - Frequent | | | 46 | | |