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:0002721 | HP:0002721 | Immunodeficiency | 0 | ACD CL E G H | 65057 | 25070 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | | | | 16 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | ACTB CL E G H | 60 | 132 | ORPHA:79107 | Developmental malformations-deafness-dystonia syndrome | HP:0040281 - Very frequent | | | 72 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | ADA CL E G H | 100 | 186 | ORPHA:39041 | Omenn syndrome | | | | 75 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 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:0002721 | HP:0002721 | Immunodeficiency | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | AGL CL E G H | 178 | 321 | ORPHA:366 | Glycogen storage disease due to glycogen debranching enzyme deficiency | HP:0040281 - Very frequent | | | 216 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | AICDA CL E G H | 57379 | 13203 | OMIM:605258 | Immunodeficiency with hyper-igm, type 2 | . | | | 58 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | AK2 CL E G H | 204 | 362 | OMIM:267500 | Reticular dysgenesia | | | | 19 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | AK2 CL E G H | 204 | 362 | ORPHA:33355 | Reticular dysgenesis | | | | 19 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | | | | 54 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | ALG1 CL E G H | 56052 | 18294 | ORPHA:79327 | ALG1-CDG | HP:0040283 - Occasional | | | 58 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | AMN CL E G H | 81693 | 14604 | ORPHA:35858 | Imerslund-Gräsbeck syndrome | HP:0040284 - Very rare | | | 25 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | ANTXR2 CL E G H | 118429 | 21732 | ORPHA:2176 | Infantile systemic hyalinosis | HP:0040281 - Very frequent | | | 49 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | AP3D1 CL E G H | 8943 | 568 | OMIM:617050 | HERMANSKY-PUDLAK SYNDROME 10; HPS10 | | | | 1 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | ATM CL E G H | 472 | 795 | ORPHA:100 | Ataxia-telangiectasia | HP:0040281 - Very frequent | | | 3267 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | ATRX CL E G H | 546 | 886 | ORPHA:231401 | Alpha-thalassemia-myelodysplastic syndrome | HP:0040283 - Occasional | | | 169 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 169 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | BCL10 CL E G H | 8915 | 989 | OMIM:616098 | IMMUNODEFICIENCY 37; IMD37 | | | | 18 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | BCL11B CL E G H | 64919 | 13222 | OMIM:617237 | Immunodeficiency 49 | | | | 3 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | BCR CL E G H | 613 | 1014 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | BLNK CL E G H | 29760 | 14211 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 4 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 276 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | BTK CL E G H | 695 | 1133 | ORPHA:47 | X-linked agammaglobulinemia | HP:0040281 - Very frequent | | | 109 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | | | | 76 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | CARD11 CL E G H | 84433 | 16393 | OMIM:615206 | Card11 immunodeficiency | . | | | 45 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | CARD9 CL E G H | 64170 | 16391 | OMIM:212050 | Candidiasis, familial chronic mucocutaneous, autosomal recessive | . | | | 45 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | HP:0040284 - Very rare | | | | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | CD19 CL E G H | 930 | 1633 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 38 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | CD19 CL E G H | 930 | 1633 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 38 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | CD19 CL E G H | 930 | 1633 | OMIM:613493 | IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3 | | | | 38 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | CD247 CL E G H | 919 | 1677 | OMIM:610163 | IMMUNODEFICIENCY 25; IMD25 | | | | 8 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | CD28 CL E G H | 940 | 1653 | ORPHA:3162 | Sézary syndrome | HP:0040282 - Frequent | | | | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | CD3D CL E G H | 915 | 1673 | OMIM:615617 | Immunodeficiency 19 | . | | | 18 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | CD3E CL E G H | 916 | 1674 | OMIM:615615 | Immunodeficiency 18 | . | | | 24 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | . | | | 19 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | CD40 CL E G H | 958 | 11919 | OMIM:606843 | Immunodeficiency with hyper-igm, type 3 | . | | | 27 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | CD40LG CL E G H | 959 | 11935 | OMIM:308230 | Immunodeficiency, X-linked, with hyper-IgM | . | | | 33 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | CD79A CL E G H | 973 | 1698 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 9 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | CD79B CL E G H | 974 | 1699 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 6 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | CD81 CL E G H | 975 | 1701 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | CDC42 CL E G H | 998 | 1736 | ORPHA:487796 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | CDC42 CL E G H | 998 | 1736 | OMIM:616737 | Takenouchi-Kosaki syndrome | . | | | 6 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | CDCA7 CL E G H | 83879 | 14628 | ORPHA:2268 | ICF syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 636 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | CHD1 CL E G H | 1105 | 1915 | ORPHA:529965 | Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | CHD1 CL E G H | 1105 | 1915 | OMIM:617682 | Pilarowski-Bjornsson syndrome | . | | | 2 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:39041 | Omenn syndrome | | | | 515 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | CORO1A CL E G H | 11151 | 2252 | OMIM:615401 | Immunodeficiency 8 | . | | | 7 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | CR2 CL E G H | 1380 | 2336 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 10 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | CR2 CL E G H | 1380 | 2336 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 10 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353281 | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | | | | 291 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | | | | 291 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | CRKL CL E G H | 1399 | 2363 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | | | | 160 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | CTLA4 CL E G H | 1493 | 2505 | OMIM:616100 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5 | | | | 10 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:3162 | Sézary syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | CTPS1 CL E G H | 1503 | 2519 | OMIM:615897 | IMMUNODEFICIENCY 24; IMD24 | | | | 2 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | CUBN CL E G H | 8029 | 2548 | ORPHA:35858 | Imerslund-Gräsbeck syndrome | HP:0040284 - Very rare | | | 273 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | CUL4B CL E G H | 8450 | 2555 | ORPHA:85293 | X-linked intellectual disability, Cabezas type | HP:0040283 - Occasional | | | 38 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | CYBA CL E G H | 1535 | 2577 | OMIM:233690 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE | . | | | 27 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | CYBB CL E G H | 1536 | 2578 | OMIM:306400 | Chronic granulomatous disease, X-linked | . | | | 111 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:39041 | Omenn syndrome | | | | 94 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:602450 | Severe combined immunodeficiency with sensitivity to ionizing radiation | | | | 94 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | | | | 65 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | DKC1 CL E G H | 1736 | 2890 | OMIM:305000 | Dyskeratosis congenita, X-linked | . | | | 65 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | DKC1 CL E G H | 1736 | 2890 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | 5 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | DNMT3B CL E G H | 1789 | 2979 | ORPHA:2268 | ICF syndrome | HP:0040281 - Very frequent | | | 79 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | DNMT3B CL E G H | 1789 | 2979 | OMIM:242860 | Immunodeficiency-Centromeric instability-facial anomalies syndrome | . | | | 79 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | . | | | 6 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | 1 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | | | | 250 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | . | | | 40 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | EPG5 CL E G H | 57724 | 29331 | ORPHA:1493 | Vici syndrome | | | | 40 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | EXTL3 CL E G H | 2137 | 3518 | OMIM:617425 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | | | | 3 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | | | | 3 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | FCGR3A CL E G H | 2214 | 3619 | OMIM:615707 | Immunodeficiency 20 | | | | 4 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | FOXN1 CL E G H | 8456 | 12765 | ORPHA:169095 | Severe combined immunodeficiency due to FOXN1 deficiency | HP:0040281 - Very frequent | | | 54 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | FOXN1 CL E G H | 8456 | 12765 | OMIM:601705 | T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY | | | | 54 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | FRAS1 CL E G H | 80144 | 19185 | OMIM:219000 | Fraser syndrome | | | | 353 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | GATA2 CL E G H | 2624 | 4171 | OMIM:614172 | Immunodeficiency 21 | . | | | 137 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231249 | Hemoglobin E-beta-thalassemia syndrome | HP:0040281 - Very frequent | | | 580 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | HELLS CL E G H | 3070 | 4861 | ORPHA:2268 | ICF syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | HYOU1 CL E G H | 10525 | 16931 | OMIM:233600 | Immunodeficiency 59 and hypoglycemia | . | | | | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | ICOS CL E G H | 29851 | 5351 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 32 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | . | | | 32 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | ICOS CL E G H | 29851 | 5351 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 32 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | IFNGR1 CL E G H | 3459 | 5439 | OMIM:615978 | Immunodeficiency 27B | . | | | 60 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | IFNGR2 CL E G H | 3460 | 5440 | OMIM:614889 | Immunodeficiency 28 | . | | | 38 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | IGHM CL E G H | 3507 | 5541 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 7 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | IGLL1 CL E G H | 3543 | 5870 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 3 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | IKBKB CL E G H | 3551 | 5960 | OMIM:615592 | Immunodeficiency 15 | . | | | 4 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:300291 | ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1 | | | | 52 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:300636 | Immunodeficiency 33 | . | | | 52 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | IKZF1 CL E G H | 10320 | 13176 | OMIM:616873 | IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13 | | | | 8 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | IL12B CL E G H | 3593 | 5970 | OMIM:614890 | Immunodeficiency 29 | . | | | 31 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | IL12RB1 CL E G H | 3594 | 5971 | OMIM:614891 | Immunodeficiency 30 | . | | | 46 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | IL12RB1 CL E G H | 3594 | 5971 | ORPHA:319552 | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | HP:0040281 - Very frequent | | | 46 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | IL21R CL E G H | 50615 | 6006 | OMIM:615207 | IMMUNODEFICIENCY 56; IMD56 | | | | 7 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | IL2RB CL E G H | 3560 | 6009 | OMIM:618495 | Immunodeficiency 63 with lymphoproliferation and autoimmunity | . | | | | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | IL2RG CL E G H | 3561 | 6010 | OMIM:312863 | Combined immunodeficiency, X-linked | | | | 48 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | IL2RG CL E G H | 3561 | 6010 | ORPHA:39041 | Omenn syndrome | | | | 48 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | IL2RG CL E G H | 3561 | 6010 | OMIM:300400 | Severe combined immunodeficiency, X-linked | | | | 48 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | IL7R CL E G H | 3575 | 6024 | ORPHA:39041 | Omenn syndrome | | | | 94 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 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:0002721 | HP:0002721 | Immunodeficiency | 0 | IRAK4 CL E G H | 51135 | 17967 | OMIM:607676 | Immunodeficiency 67 | . | | | 58 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | IRAK4 CL E G H | 51135 | 17967 | ORPHA:70592 | Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency | HP:0040281 - Very frequent | | | 58 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 4 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | IRF2BP2 CL E G H | 359948 | 21729 | OMIM:617765 | IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14 | | | | 4 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | IRF7 CL E G H | 3665 | 6122 | OMIM:616345 | Immunodeficiency 39 | . | | | 2 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | IRF8 CL E G H | 3394 | 5358 | OMIM:614893 | IMMUNODEFICIENCY 32A; IMD32A | | | | 5 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | IRF8 CL E G H | 3394 | 5358 | OMIM:226990 | Immunodeficiency 32B | . | | | 5 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | ISG15 CL E G H | 9636 | 4053 | OMIM:616126 | Immunodeficiency 38 with basal ganglia calcification | . | | | 4 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | JAK3 CL E G H | 3718 | 6193 | OMIM:600802 | Scid, autosomal recessive, T-Negative/b-Positive type | | | | 140 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | | | | 1 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | LAMTOR2 CL E G H | 28956 | 29796 | OMIM:610798 | Immunodeficiency due to defect in mapbp-interacting protein | . | | | 1 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | LAMTOR2 CL E G H | 28956 | 29796 | ORPHA:90023 | Primary immunodeficiency syndrome due to LAMTOR2 deficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | LAT CL E G H | 27040 | 18874 | OMIM:617514 | Immunodeficiency 52 | | | | 2 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | LCK CL E G H | 3932 | 6524 | OMIM:615758 | Immunodeficiency 22 | . | | | 1 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:99812 | LIG4 syndrome | HP:0040281 - Very frequent | | | 88 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:39041 | Omenn syndrome | | | | 88 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | LMNB2 CL E G H | 84823 | 6638 | ORPHA:79087 | Acquired partial lipodystrophy | HP:0040283 - Occasional | | | 11 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | LRRC8A CL E G H | 56262 | 19027 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 3 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:352723 | Attenuated Chédiak-Higashi syndrome | HP:0040281 - Very frequent | | | 239 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040282 - Frequent | | | 239 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 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:0002721 | HP:0002721 | Immunodeficiency | 0 | MALT1 CL E G H | 10892 | 6819 | OMIM:615468 | Immunodeficiency 12 | . | | | 6 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309288 | Alpha-mannosidosis, adult form | HP:0040283 - Occasional | | | 136 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | HP:0040281 - Very frequent | | | 136 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | MAPK1 CL E G H | 5594 | 6871 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040282 - Frequent | | | 22 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | MCM10 CL E G H | 55388 | 18043 | OMIM:619313 | IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80 | | | | | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | MEIS2 CL E G H | 4212 | 7001 | ORPHA:261190 | 15q14 microdeletion syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | MGAT2 CL E G H | 4247 | 7045 | ORPHA:79329 | MGAT2-CDG | | | | 39 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | MMUT CL E G H | 4594 | 7526 | ORPHA:79312 | Vitamin B12-unresponsive methylmalonic acidemia type mut- | HP:0040282 - Frequent | | | | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | MS4A1 CL E G H | 931 | 7315 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | MS4A1 CL E G H | 931 | 7315 | OMIM:613495 | Immunodeficiency, common variable, 5 | | | | 1 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | MTHFD1 CL E G H | 4522 | 7432 | OMIM:617780 | Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | | | | 5 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | MYC CL E G H | 4609 | 7553 | OMIM:113970 | Burkitt lymphoma | . | | | 11 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | MYD88 CL E G H | 4615 | 7562 | ORPHA:183713 | Bacterial susceptibility due to TLR signaling pathway deficiency | HP:0040281 - Very frequent | | | 9 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | NCF1 CL E G H | 653361 | 7660 | OMIM:233700 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I | . | | | 13 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | NCF2 CL E G H | 4688 | 7661 | OMIM:233710 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II | . | | | 67 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | NFE2L2 CL E G H | 4780 | 7782 | OMIM:617744 | Immunodeficiency, developmental delay, and hypohomocysteinemia | . | | | 20 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | NFKB1 CL E G H | 4790 | 7794 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 7 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | NFKB1 CL E G H | 4790 | 7794 | OMIM:616576 | IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12 | | | | 7 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 11 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | NFKB2 CL E G H | 4791 | 7795 | OMIM:615577 | Immunodeficiency, common variable, 10 | | | | 11 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | NHEJ1 CL E G H | 79840 | 25737 | ORPHA:169079 | Cernunnos-XLF deficiency | HP:0040283 - Occasional | | | 20 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | | | | 27 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | | | | 17 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | | | | 12 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 79 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | ORAI1 CL E G H | 84876 | 25896 | OMIM:612782 | Immunodeficiency 9 | . | | | 19 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | OTULIN CL E G H | 90268 | 25118 | OMIM:619986 | | | | | 3 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | | | | 26 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040281 - Very frequent | | | 26 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | PGM3 CL E G H | 5238 | 8907 | OMIM:615816 | Immunodeficiency 23 | . | | | 15 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | | | | 15 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | PI4KA CL E G H | 5297 | 8983 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | HP:0040282 - Frequent | | | 11 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | PI4KA CL E G H | 5297 | 8983 | OMIM:619708 | GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2 | | | | 11 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | | | | 162 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | PIK3CD CL E G H | 5293 | 8977 | OMIM:615513 | IMMUNODEFICIENCY 14; IMD14 | | | | 9 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 43 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | . | | | 43 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | PNP CL E G H | 4860 | 7892 | ORPHA:760 | Purine nucleoside phosphorylase deficiency | | | | 52 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | | | | 35 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | POLE CL E G H | 5426 | 9177 | OMIM:615139 | Facial dysmorphism, immunodeficiency, livedo, and short stature | . | | | 1129 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | POLE CL E G H | 5426 | 9177 | OMIM:618336 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency | . | | | 1129 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 10 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | PRKDC CL E G H | 5591 | 9413 | OMIM:615966 | Immunodeficiency 26 with or without neurologic abnormalities | | | | 42 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | PRPS1 CL E G H | 5631 | 9462 | OMIM:301835 | Arts syndrome | . | | | 49 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | | | | 948 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | RAB27A CL E G H | 5873 | 9766 | ORPHA:79477 | Griscelli syndrome type 2 | HP:0040281 - Very frequent | | | 67 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | RAC2 CL E G H | 5880 | 9802 | ORPHA:183707 | Neutrophil immunodeficiency syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | RAG1 CL E G H | 5896 | 9831 | OMIM:233650 | Combined cellular and humoral immune defects with granulomas | | | | 127 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | RAG1 CL E G H | 5896 | 9831 | ORPHA:231154 | Combined immunodeficiency due to partial RAG1 deficiency | HP:0040281 - Very frequent | | | 127 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | RAG1 CL E G H | 5896 | 9831 | ORPHA:39041 | Omenn syndrome | | | | 127 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 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:0002721 | HP:0002721 | Immunodeficiency | 0 | RAG2 CL E G H | 5897 | 9832 | OMIM:233650 | Combined cellular and humoral immune defects with granulomas | | | | 50 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | RAG2 CL E G H | 5897 | 9832 | ORPHA:39041 | Omenn syndrome | | | | 50 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 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:0002721 | HP:0002721 | Immunodeficiency | 0 | RBCK1 CL E G H | 10616 | 15864 | OMIM:615895 | Polyglucosan body myopathy 1 with or without immunodeficiency | HP:0040283 - Occasional | | | 10 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | RMRP CL E G H | 6023 | 10031 | OMIM:250250 | Cartilage-Hair hypoplasia | | | | 37 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | RMRP CL E G H | 6023 | 10031 | ORPHA:39041 | Omenn syndrome | | | | 37 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | RNF168 CL E G H | 165918 | 26661 | ORPHA:420741 | RIDDLE syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | RNF168 CL E G H | 165918 | 26661 | OMIM:611943 | Riddle syndrome | | | | 7 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | | | | 77 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | RTEL1 CL E G H | 51750 | 15888 | OMIM:615190 | Dyskeratosis congenita, autosomal recessive 5 | . | | | 77 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040281 - Very frequent | | | 77 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | 26 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | | | | 237 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | | | | 147 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | | | | 129 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | | | | 60 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | SH2D1A CL E G H | 4068 | 10820 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 37 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | SHANK3 CL E G H | 85358 | 14294 | ORPHA:48652 | Monosomy 22q13.3 | HP:0040282 - Frequent | | | 53 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | SIK3 CL E G H | 23387 | 29165 | OMIM:618162 | Spondyloepimetaphyseal dysplasia, Krakow type | . | | | | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | HP:0040281 - Very frequent | | | | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | SKIC2 CL E G H | 6499 | 10898 | OMIM:614602 | Trichohepatoenteric syndrome 2 | . | | | | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | HP:0040281 - Very frequent | | | | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | SLC46A1 CL E G H | 113235 | 30521 | ORPHA:90045 | Hereditary folate malabsorption | HP:0040283 - Occasional | | | 101 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | | | | 74 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | SP110 CL E G H | 3431 | 5401 | OMIM:235550 | Hepatic venoocclusive disease with immunodeficiency | . | | | 49 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | SPATA5 CL E G H | 166378 | 18119 | OMIM:616577 | Epilepsy, hearing loss, and mental retardation syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | SPATA5 CL E G H | 166378 | 18119 | ORPHA:457351 | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040282 - Frequent | | | 89 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | STAT1 CL E G H | 6772 | 11362 | OMIM:614892 | Immunodeficiency 31A | . | | | 89 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | STAT1 CL E G H | 6772 | 11362 | OMIM:614162 | Immunodeficiency 31C | . | | | 89 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:612783 | Immunodeficiency 10 | . | | | 31 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | STK4 CL E G H | 6789 | 11408 | OMIM:614868 | T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS | . | | | 4 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | TBCE CL E G H | 6905 | 11582 | ORPHA:2323 | Sanjad-Sakati syndrome | | | | 52 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | TBK1 CL E G H | 29110 | 11584 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040283 - Occasional | | | 20 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | 32 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | TCF3 CL E G H | 6929 | 11633 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 2 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | | | | 48 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | | | | 238 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040281 - Very frequent | | | 238 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | TFRC CL E G H | 7037 | 11763 | OMIM:616740 | Immunodeficiency 46 | . | | | 1 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | TICAM1 CL E G H | 148022 | 18348 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040283 - Occasional | | | 6 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | | | | 60 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | TINF2 CL E G H | 26277 | 11824 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040281 - Very frequent | | | 60 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | TLR3 CL E G H | 7098 | 11849 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040283 - Occasional | | | 3 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | TNFRSF13B CL E G H | 23495 | 18153 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 32 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | TNFRSF13B CL E G H | 23495 | 18153 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 32 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | TNFRSF13C CL E G H | 115650 | 17755 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 12 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | TNFRSF13C CL E G H | 115650 | 17755 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 12 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | TNFRSF13C CL E G H | 115650 | 17755 | OMIM:613494 | Immunodeficiency, common variable, 4 | | | | 12 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | TNFRSF1B CL E G H | 7133 | 11917 | ORPHA:3162 | Sézary syndrome | HP:0040282 - Frequent | | | | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | TNFRSF4 CL E G H | 7293 | 11918 | OMIM:615593 | Immunodeficiency 16 | . | | | 2 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | TNFSF12 CL E G H | 8742 | 11927 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040282 - Frequent | | | | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 911 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | TRAF3 CL E G H | 7187 | 12033 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040283 - Occasional | | | 2 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | TTC7A CL E G H | 57217 | 19750 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | HP:0040282 - Frequent | | | 26 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | TTC7A CL E G H | 57217 | 19750 | OMIM:243150 | Gastrointestinal defects and immunodeficiency syndrome | | | | 26 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | TYK2 CL E G H | 7297 | 12440 | OMIM:611521 | Immunodeficiency 35 | . | | | 77 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | | | | 1 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | UNC119 CL E G H | 9094 | 12565 | OMIM:615518 | IMMUNODEFICIENCY 13; IMD13 | | | | 30 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | UNC93B1 CL E G H | 81622 | 13481 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040283 - Occasional | | | 5 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | UNG CL E G H | 7374 | 12572 | OMIM:608106 | Immunodeficiency with hyper-igm, type 5 | . | | | 44 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | | | | 8 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | | | | 1 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 1 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 7 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | | | | 40 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | XIAP CL E G H | 331 | 592 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 81 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | XIAP CL E G H | 331 | 592 | OMIM:300635 | Lymphoproliferative syndrome, X-linked, 2 | . | | | 81 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | XRCC4 CL E G H | 7518 | 12831 | ORPHA:99812 | LIG4 syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | XRCC4 CL E G H | 7518 | 12831 | OMIM:616541 | Short stature, microcephaly, and endocrine dysfunction | . | | | 9 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | ZBTB24 CL E G H | 9841 | 21143 | ORPHA:2268 | ICF syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | ZBTB24 CL E G H | 9841 | 21143 | OMIM:614069 | Immunodeficiency-Centromeric instability-facial anomalies syndrome2 | . | | | 9 | | |
HP:0002721 | HP:0002721 | Immunodeficiency | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0002721 | HP:0005374 | Cellular immunodeficiency | 1 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | . | | | 16 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | . | | | 16 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | ADA CL E G H | 100 | 186 | ORPHA:39041 | Omenn syndrome | | | | 75 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 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:0002721 | HP:0005387 | Combined immunodeficiency | 1 | AK2 CL E G H | 204 | 362 | OMIM:267500 | Reticular dysgenesia | | | | 19 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | AK2 CL E G H | 204 | 362 | ORPHA:33355 | Reticular dysgenesis | | | | 19 | | |
HP:0002721 | HP:0005374 | Cellular immunodeficiency | 1 | AK2 CL E G H | 204 | 362 | ORPHA:33355 | Reticular dysgenesis | HP:0040281 - Very frequent | | | 19 | | |
HP:0002721 | HP:0005374 | Cellular immunodeficiency | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0002721 | HP:0005374 | Cellular immunodeficiency | 1 | ATM CL E G H | 472 | 795 | ORPHA:100 | Ataxia-telangiectasia | HP:0040281 - Very frequent | | | 3267 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | BCL11B CL E G H | 64919 | 13222 | OMIM:617237 | Immunodeficiency 49 | | | | 3 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | . | | | 76 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | CD19 CL E G H | 930 | 1633 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 38 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | CD19 CL E G H | 930 | 1633 | OMIM:613493 | IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3 | | | | 38 | | |
HP:0002721 | HP:0005374 | Cellular immunodeficiency | 1 | CDCA7 CL E G H | 83879 | 14628 | ORPHA:2268 | ICF syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:39041 | Omenn syndrome | | | | 515 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | CR2 CL E G H | 1380 | 2336 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 10 | | |
HP:0002721 | HP:0005374 | Cellular immunodeficiency | 1 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353281 | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | HP:0040284 - Very rare | | | 291 | | |
HP:0002721 | HP:0005363 | Humoral immunodeficiency | 1 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353281 | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | HP:0040284 - Very rare | | | 291 | | |
HP:0002721 | HP:0005363 | Humoral immunodeficiency | 1 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | HP:0040284 - Very rare | | | 291 | | |
HP:0002721 | HP:0005374 | Cellular immunodeficiency | 1 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | HP:0040284 - Very rare | | | 291 | | |
HP:0002721 | HP:0005374 | Cellular immunodeficiency | 1 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 160 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:39041 | Omenn syndrome | | | | 94 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:602450 | Severe combined immunodeficiency with sensitivity to ionizing radiation | | | | 94 | | |
HP:0002721 | HP:0005374 | Cellular immunodeficiency | 1 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 65 | | |
HP:0002721 | HP:0005374 | Cellular immunodeficiency | 1 | DNMT3B CL E G H | 1789 | 2979 | ORPHA:2268 | ICF syndrome | HP:0040282 - Frequent | | | 79 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | | | | 6 | | |
HP:0002721 | HP:0005363 | Humoral immunodeficiency | 1 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | HP:0040284 - Very rare | | | 250 | | |
HP:0002721 | HP:0005374 | Cellular immunodeficiency | 1 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | HP:0040284 - Very rare | | | 250 | | |
HP:0002721 | HP:0005374 | Cellular immunodeficiency | 1 | EPG5 CL E G H | 57724 | 29331 | ORPHA:1493 | Vici syndrome | HP:0040281 - Very frequent | | | 40 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | EXTL3 CL E G H | 2137 | 3518 | OMIM:617425 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | | | | 3 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | | | | 3 | | |
HP:0002721 | HP:0005374 | Cellular immunodeficiency | 1 | FOXN1 CL E G H | 8456 | 12765 | OMIM:601705 | T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY | | | | 54 | | |
HP:0002721 | HP:0005374 | Cellular immunodeficiency | 1 | FRAS1 CL E G H | 80144 | 19185 | OMIM:219000 | Fraser syndrome | | | | 353 | | |
HP:0002721 | HP:0005374 | Cellular immunodeficiency | 1 | HELLS CL E G H | 3070 | 4861 | ORPHA:2268 | ICF syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | ICOS CL E G H | 29851 | 5351 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 32 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | IKZF1 CL E G H | 10320 | 13176 | OMIM:616873 | IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13 | | | | 8 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | IL2RG CL E G H | 3561 | 6010 | OMIM:312863 | Combined immunodeficiency, X-linked | . | | | 48 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | IL2RG CL E G H | 3561 | 6010 | ORPHA:39041 | Omenn syndrome | | | | 48 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | IL2RG CL E G H | 3561 | 6010 | OMIM:300400 | Severe combined immunodeficiency, X-linked | | | | 48 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | IL7R CL E G H | 3575 | 6024 | ORPHA:39041 | Omenn syndrome | | | | 94 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 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:0002721 | HP:0005387 | Combined immunodeficiency | 1 | IRF2BP2 CL E G H | 359948 | 21729 | OMIM:617765 | IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14 | | | | 4 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | JAK3 CL E G H | 3718 | 6193 | OMIM:600802 | Scid, autosomal recessive, T-Negative/b-Positive type | | | | 140 | | |
HP:0002721 | HP:0005374 | Cellular immunodeficiency | 1 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 1 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | LIG4 CL E G H | 3981 | 6601 | ORPHA:99812 | LIG4 syndrome | | | | 88 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | LIG4 CL E G H | 3981 | 6601 | ORPHA:39041 | Omenn syndrome | | | | 88 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | MGAT2 CL E G H | 4247 | 7045 | ORPHA:79329 | MGAT2-CDG | HP:0040283 - Occasional | | | 39 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | MS4A1 CL E G H | 931 | 7315 | OMIM:613495 | Immunodeficiency, common variable, 5 | | | | 1 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | MTHFD1 CL E G H | 4522 | 7432 | OMIM:617780 | Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | | | | 5 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | NFKB1 CL E G H | 4790 | 7794 | OMIM:616576 | IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12 | | | | 7 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | NFKB2 CL E G H | 4791 | 7795 | OMIM:615577 | Immunodeficiency, common variable, 10 | | | | 11 | | |
HP:0002721 | HP:0005374 | Cellular immunodeficiency | 1 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 27 | | |
HP:0002721 | HP:0005374 | Cellular immunodeficiency | 1 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 17 | | |
HP:0002721 | HP:0005374 | Cellular immunodeficiency | 1 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 12 | | |
HP:0002721 | HP:0005374 | Cellular immunodeficiency | 1 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 26 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | | | | 15 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | PI4KA CL E G H | 5297 | 8983 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | | | | 11 | | |
HP:0002721 | HP:0005374 | Cellular immunodeficiency | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 162 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 9 | | |
HP:0002721 | HP:0005363 | Humoral immunodeficiency | 1 | PNP CL E G H | 4860 | 7892 | ORPHA:760 | Purine nucleoside phosphorylase deficiency | HP:0040282 - Frequent | | | 52 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | PNP CL E G H | 4860 | 7892 | ORPHA:760 | Purine nucleoside phosphorylase deficiency | | | | 52 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | PRKDC CL E G H | 5591 | 9413 | OMIM:615966 | Immunodeficiency 26 with or without neurologic abnormalities | | | | 42 | | |
HP:0002721 | HP:0005374 | Cellular immunodeficiency | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | RAG1 CL E G H | 5896 | 9831 | OMIM:233650 | Combined cellular and humoral immune defects with granulomas | . | | | 127 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | RAG1 CL E G H | 5896 | 9831 | ORPHA:231154 | Combined immunodeficiency due to partial RAG1 deficiency | | | | 127 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | RAG1 CL E G H | 5896 | 9831 | ORPHA:39041 | Omenn syndrome | | | | 127 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 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:0002721 | HP:0005387 | Combined immunodeficiency | 1 | RAG2 CL E G H | 5897 | 9832 | OMIM:233650 | Combined cellular and humoral immune defects with granulomas | . | | | 50 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | RAG2 CL E G H | 5897 | 9832 | ORPHA:39041 | Omenn syndrome | | | | 50 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 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:0002721 | HP:0005374 | Cellular immunodeficiency | 1 | RMRP CL E G H | 6023 | 10031 | OMIM:250250 | Cartilage-Hair hypoplasia | . | | | 37 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | RMRP CL E G H | 6023 | 10031 | ORPHA:39041 | Omenn syndrome | | | | 37 | | |
HP:0002721 | HP:0005374 | Cellular immunodeficiency | 1 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 77 | | |
HP:0002721 | HP:0005374 | Cellular immunodeficiency | 1 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 237 | | |
HP:0002721 | HP:0005374 | Cellular immunodeficiency | 1 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 147 | | |
HP:0002721 | HP:0005374 | Cellular immunodeficiency | 1 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 129 | | |
HP:0002721 | HP:0005374 | Cellular immunodeficiency | 1 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0002721 | HP:0005374 | Cellular immunodeficiency | 1 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | | | | 74 | | |
HP:0002721 | HP:0005374 | Cellular immunodeficiency | 1 | TBCE CL E G H | 6905 | 11582 | ORPHA:2323 | Sanjad-Sakati syndrome | HP:0040283 - Occasional | | | 52 | | |
HP:0002721 | HP:0005374 | Cellular immunodeficiency | 1 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 48 | | |
HP:0002721 | HP:0005374 | Cellular immunodeficiency | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 238 | | |
HP:0002721 | HP:0005374 | Cellular immunodeficiency | 1 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 60 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | TNFRSF13B CL E G H | 23495 | 18153 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 32 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | TNFRSF13C CL E G H | 115650 | 17755 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 12 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | TNFRSF13C CL E G H | 115650 | 17755 | OMIM:613494 | Immunodeficiency, common variable, 4 | | | | 12 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | TTC7A CL E G H | 57217 | 19750 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | | | | 26 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | TTC7A CL E G H | 57217 | 19750 | OMIM:243150 | Gastrointestinal defects and immunodeficiency syndrome | | | | 26 | | |
HP:0002721 | HP:0005374 | Cellular immunodeficiency | 1 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 1 | | |
HP:0002721 | HP:0005374 | Cellular immunodeficiency | 1 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 8 | | |
HP:0002721 | HP:0005374 | Cellular immunodeficiency | 1 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002721 | HP:0005374 | Cellular immunodeficiency | 1 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 40 | | |
HP:0002721 | HP:0005387 | Combined immunodeficiency | 1 | XRCC4 CL E G H | 7518 | 12831 | ORPHA:99812 | LIG4 syndrome | | | | 9 | | |
HP:0002721 | HP:0005374 | Cellular immunodeficiency | 1 | ZBTB24 CL E G H | 9841 | 21143 | ORPHA:2268 | ICF syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0002721 | HP:0004430 | Severe combined immunodeficiency | 2 | ADA CL E G H | 100 | 186 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 75 | | |
HP:0002721 | HP:0004430 | Severe combined immunodeficiency | 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:0002721 | HP:0004430 | Severe combined immunodeficiency | 2 | AK2 CL E G H | 204 | 362 | ORPHA:33355 | Reticular dysgenesis | HP:0040281 - Very frequent | | | 19 | | |
HP:0002721 | HP:0004430 | Severe combined immunodeficiency | 2 | BCL11B CL E G H | 64919 | 13222 | OMIM:617237 | Immunodeficiency 49 | . | | | 3 | | |
HP:0002721 | HP:0004430 | Severe combined immunodeficiency | 2 | CHD7 CL E G H | 55636 | 20626 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 515 | | |
HP:0002721 | HP:0004430 | Severe combined immunodeficiency | 2 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 94 | | |
HP:0002721 | HP:0004430 | Severe combined immunodeficiency | 2 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:602450 | Severe combined immunodeficiency with sensitivity to ionizing radiation | . | | | 94 | | |
HP:0002721 | HP:0004430 | Severe combined immunodeficiency | 2 | EXTL3 CL E G H | 2137 | 3518 | OMIM:617425 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | | | | 3 | | |
HP:0002721 | HP:0004430 | Severe combined immunodeficiency | 2 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0002721 | HP:0005352 | Severe T-cell immunodeficiency | 2 | FOXN1 CL E G H | 8456 | 12765 | OMIM:601705 | T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY | . | | | 54 | | |
HP:0002721 | HP:0005352 | Severe T-cell immunodeficiency | 2 | FRAS1 CL E G H | 80144 | 19185 | OMIM:219000 | Fraser syndrome | . | | | 353 | | |
HP:0002721 | HP:0004430 | Severe combined immunodeficiency | 2 | IL2RG CL E G H | 3561 | 6010 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 48 | | |
HP:0002721 | HP:0004430 | Severe combined immunodeficiency | 2 | IL2RG CL E G H | 3561 | 6010 | OMIM:300400 | Severe combined immunodeficiency, X-linked | | | | 48 | | |
HP:0002721 | HP:0004430 | Severe combined immunodeficiency | 2 | IL7R CL E G H | 3575 | 6024 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 94 | | |
HP:0002721 | HP:0004430 | Severe combined immunodeficiency | 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:0002721 | HP:0004430 | Severe combined immunodeficiency | 2 | JAK3 CL E G H | 3718 | 6193 | OMIM:600802 | Scid, autosomal recessive, T-Negative/b-Positive type | | | | 140 | | |
HP:0002721 | HP:0004430 | Severe combined immunodeficiency | 2 | LIG4 CL E G H | 3981 | 6601 | ORPHA:99812 | LIG4 syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0002721 | HP:0004430 | Severe combined immunodeficiency | 2 | LIG4 CL E G H | 3981 | 6601 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 88 | | |
HP:0002721 | HP:0004430 | Severe combined immunodeficiency | 2 | MTHFD1 CL E G H | 4522 | 7432 | OMIM:617780 | Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | . | | | 5 | | |
HP:0002721 | HP:0004430 | Severe combined immunodeficiency | 2 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040283 - Occasional | | | 15 | | |
HP:0002721 | HP:0004430 | Severe combined immunodeficiency | 2 | PI4KA CL E G H | 5297 | 8983 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | HP:0040281 - Very frequent | | | 11 | | |
HP:0002721 | HP:0004430 | Severe combined immunodeficiency | 2 | PNP CL E G H | 4860 | 7892 | ORPHA:760 | Purine nucleoside phosphorylase deficiency | HP:0040282 - Frequent | | | 52 | | |
HP:0002721 | HP:0004430 | Severe combined immunodeficiency | 2 | PRKDC CL E G H | 5591 | 9413 | OMIM:615966 | Immunodeficiency 26 with or without neurologic abnormalities | . | | | 42 | | |
HP:0002721 | HP:0004430 | Severe combined immunodeficiency | 2 | RAG1 CL E G H | 5896 | 9831 | ORPHA:231154 | Combined immunodeficiency due to partial RAG1 deficiency | HP:0040281 - Very frequent | | | 127 | | |
HP:0002721 | HP:0004430 | Severe combined immunodeficiency | 2 | RAG1 CL E G H | 5896 | 9831 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 127 | | |
HP:0002721 | HP:0004430 | Severe combined immunodeficiency | 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:0002721 | HP:0004430 | Severe combined immunodeficiency | 2 | RAG2 CL E G H | 5897 | 9832 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 50 | | |
HP:0002721 | HP:0004430 | Severe combined immunodeficiency | 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:0002721 | HP:0004430 | Severe combined immunodeficiency | 2 | RMRP CL E G H | 6023 | 10031 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0002721 | HP:0005352 | Severe T-cell immunodeficiency | 2 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | HP:0040282 - Frequent | | | 74 | | |
HP:0002721 | HP:0004430 | Severe combined immunodeficiency | 2 | TTC7A CL E G H | 57217 | 19750 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | HP:0040281 - Very frequent | | | 26 | | |
HP:0002721 | HP:0004430 | Severe combined immunodeficiency | 2 | TTC7A CL E G H | 57217 | 19750 | OMIM:243150 | Gastrointestinal defects and immunodeficiency syndrome | HP:0040283 - Occasional | | | 26 | | |
HP:0002721 | HP:0004430 | Severe combined immunodeficiency | 2 | XRCC4 CL E G H | 7518 | 12831 | ORPHA:99812 | LIG4 syndrome | HP:0040282 - Frequent | | | 9 | | |