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:0000388 | HP:0000388 | Otitis media | 0 | A2ML1 CL E G H | 144568 | 23336 | OMIM:166760 | Otitis media, susceptibility to | | | | 120 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:313 | Lamellar ichthyosis | | | | 130 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | | | | 16 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | ADA CL E G H | 100 | 186 | ORPHA:277 | Severe combined immunodeficiency due to adenosine deaminase deficiency | | | | 75 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | | | | 9 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | ADAT3 CL E G H | 113179 | 25151 | OMIM:615286 | Mental retardation, autosomal recessive 36 | | | | 9 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | AGA CL E G H | 175 | 318 | ORPHA:93 | Aspartylglucosaminuria | | | | 76 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | AK2 CL E G H | 204 | 362 | ORPHA:33355 | Reticular dysgenesis | | | | 19 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040281 - Very frequent | | | 404 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | . | | | 404 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | ALOX12B CL E G H | 242 | 430 | ORPHA:313 | Lamellar ichthyosis | | | | 75 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | ALOXE3 CL E G H | 59344 | 13743 | ORPHA:313 | Lamellar ichthyosis | | | | 63 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | ANAPC1 CL E G H | 64682 | 19988 | OMIM:618625 | ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1 | | | | 2 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | ANKRD11 CL E G H | 29123 | 21316 | ORPHA:261250 | 16q24.3 microdeletion syndrome | | | | 102 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | | | | 1 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | ARHGAP29 CL E G H | 9411 | 30207 | ORPHA:199306 | Cleft lip/palate | | | | 6 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 1 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | ASPRV1 CL E G H | 151516 | 26321 | ORPHA:313 | Lamellar ichthyosis | | | | 1 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | ATN1 CL E G H | 1822 | 3033 | OMIM:618494 | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | | | | 16 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | BAP1 CL E G H | 8314 | 950 | OMIM:619762 | KURY-ISIDOR SYNDROME; KURIS | | | | 184 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | | | | 101 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | HP:0040282 - Frequent | | | 314 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | BLNK CL E G H | 29760 | 14211 | OMIM:613502 | Agammaglobulinemia 4, autosomal recessive | | | | 4 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | BLNK CL E G H | 29760 | 14211 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 4 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | BMP4 CL E G H | 652 | 1071 | ORPHA:199306 | Cleft lip/palate | | | | 38 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | BPTF CL E G H | 2186 | 3581 | ORPHA:529962 | 17q24.2 microdeletion syndrome | | | | 2 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | BTK CL E G H | 695 | 1133 | OMIM:300755 | Agammaglobulinemia, X-linked | . | | | 109 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | BTK CL E G H | 695 | 1133 | OMIM:307200 | Isolated growth hormone deficiency, type III, with agammaglobulinemia | | | | 109 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | BTK CL E G H | 695 | 1133 | ORPHA:47 | X-linked agammaglobulinemia | | | | 109 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | C4B CL E G H | 721 | 1324 | OMIM:614379 | Complement component 4B deficiency | | | | 1 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CCDC103 CL E G H | 388389 | 32700 | ORPHA:244 | Primary ciliary dyskinesia | | | | 36 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CCDC39 CL E G H | 339829 | 25244 | OMIM:613807 | Ciliary dyskinesia, primary, 14 | . | | | 126 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CCDC39 CL E G H | 339829 | 25244 | ORPHA:244 | Primary ciliary dyskinesia | | | | 126 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CCDC40 CL E G H | 55036 | 26090 | OMIM:613808 | CILIARY DYSKINESIA, PRIMARY, 15; CILD15 | | | | 182 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CCDC40 CL E G H | 55036 | 26090 | ORPHA:244 | Primary ciliary dyskinesia | | | | 182 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | . | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CCDC65 CL E G H | 85478 | 29937 | OMIM:615504 | Ciliary dyskinesia, primary, 27 | | | | 23 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CCDC65 CL E G H | 85478 | 29937 | ORPHA:244 | Primary ciliary dyskinesia | | | | 23 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CCNO CL E G H | 10309 | 18576 | ORPHA:244 | Primary ciliary dyskinesia | | | | 23 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CD19 CL E G H | 930 | 1633 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 38 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CD19 CL E G H | 930 | 1633 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 38 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CD19 CL E G H | 930 | 1633 | OMIM:613493 | IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3 | | | | 38 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040283 - Occasional | | | 8 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CD3D CL E G H | 915 | 1673 | OMIM:615617 | Immunodeficiency 19 | | | | 18 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040283 - Occasional | | | 18 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CD3E CL E G H | 916 | 1674 | OMIM:615615 | Immunodeficiency 18 | | | | 24 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040283 - Occasional | | | 24 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | | | | 19 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CD4 CL E G H | 920 | 1678 | OMIM:619238 | IMMUNODEFICIENCY 79; IMD79 | | | | 1 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CD79A CL E G H | 973 | 1698 | OMIM:613501 | Agammaglobulinemia 3, autosomal recessive | | | | 9 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CD79A CL E G H | 973 | 1698 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 9 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CD79B CL E G H | 974 | 1699 | OMIM:612692 | Agammaglobulinemia 6, autosomal recessive | | | | 6 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CD79B CL E G H | 974 | 1699 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 6 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CD81 CL E G H | 975 | 1701 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CDH1 CL E G H | 999 | 1748 | ORPHA:199306 | Cleft lip/palate | | | | 1003 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CFAP221 CL E G H | 200373 | 33720 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CFAP298 CL E G H | 56683 | 1301 | OMIM:615500 | Ciliary dyskinesia, primary, 26 | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CFAP298 CL E G H | 56683 | 1301 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CFAP300 CL E G H | 85016 | 28188 | OMIM:618063 | Ciliary dyskinesia, primary, 38 | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CFAP300 CL E G H | 85016 | 28188 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CFAP45 CL E G H | 25790 | 17229 | OMIM:619608 | HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11 | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CFAP52 CL E G H | 146845 | 16053 | OMIM:619607 | HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10 | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CFI CL E G H | 3426 | 5394 | OMIM:610984 | Complement factor I deficiency | | | | 57 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CIITA CL E G H | 4261 | 7067 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 118 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CLCN7 CL E G H | 1186 | 2025 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 102 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:154780 | Marshall syndrome | | | | 215 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:156550 | Kniest dysplasia | | | | 284 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 6 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CR2 CL E G H | 1380 | 2336 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 10 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CR2 CL E G H | 1380 | 2336 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 10 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353281 | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | HP:0040283 - Occasional | | | 291 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | HP:0040283 - Occasional | | | 291 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040281 - Very frequent | | | 10 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CXCR4 CL E G H | 7852 | 2561 | ORPHA:51636 | WHIM syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CYBA CL E G H | 1535 | 2577 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 27 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CYBB CL E G H | 1536 | 2578 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 111 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CYBC1 CL E G H | 79415 | 28672 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | CYP4F22 CL E G H | 126410 | 26820 | ORPHA:313 | Lamellar ichthyosis | | | | 54 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:275 | Severe combined immunodeficiency due to DCLRE1C deficiency | HP:0040283 - Occasional | | | 94 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:602450 | Severe combined immunodeficiency with sensitivity to ionizing radiation | . | | | 94 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DDB1 CL E G H | 1642 | 2717 | OMIM:619426 | WHITE-KERNOHAN SYNDROME; WHIKERS | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | | | | 33 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DLG1 CL E G H | 1739 | 2900 | ORPHA:199306 | Cleft lip/palate | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | | | | 1 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DLX4 CL E G H | 1748 | 2917 | ORPHA:199306 | Cleft lip/palate | | | | 1 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DNAAF1 CL E G H | 123872 | 30539 | OMIM:613193 | Ciliary dyskinesia, primary, 13 | | | | 116 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DNAAF1 CL E G H | 123872 | 30539 | ORPHA:244 | Primary ciliary dyskinesia | | | | 116 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DNAAF11 CL E G H | 23639 | 16725 | OMIM:614935 | Ciliary dyskinesia, primary, 19 | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DNAAF11 CL E G H | 23639 | 16725 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DNAAF2 CL E G H | 55172 | 20188 | OMIM:612518 | CILIARY DYSKINESIA, PRIMARY, 10; CILD10 | | | | 78 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DNAAF2 CL E G H | 55172 | 20188 | ORPHA:244 | Primary ciliary dyskinesia | | | | 78 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DNAAF3 CL E G H | 352909 | 30492 | OMIM:606763 | Ciliary dyskinesia, primary, 2 | . | | | 63 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DNAAF3 CL E G H | 352909 | 30492 | ORPHA:244 | Primary ciliary dyskinesia | | | | 63 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DNAAF4 CL E G H | 161582 | 21493 | ORPHA:244 | Primary ciliary dyskinesia | | | | 27 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DNAAF5 CL E G H | 54919 | 26013 | OMIM:614874 | Ciliary dyskinesia, primary, 18 | | | | 62 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DNAAF5 CL E G H | 54919 | 26013 | ORPHA:244 | Primary ciliary dyskinesia | | | | 62 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DNAAF6 CL E G H | 139212 | 28570 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DNAH1 CL E G H | 25981 | 2940 | ORPHA:244 | Primary ciliary dyskinesia | | | | 21 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DNAH11 CL E G H | 8701 | 2942 | OMIM:611884 | CILIARY DYSKINESIA, PRIMARY, 7; CILD7 | | | | 542 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DNAH11 CL E G H | 8701 | 2942 | ORPHA:244 | Primary ciliary dyskinesia | | | | 542 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DNAH5 CL E G H | 1767 | 2950 | OMIM:608644 | CILIARY DYSKINESIA, PRIMARY, 3; CILD3 | | | | 527 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DNAH5 CL E G H | 1767 | 2950 | ORPHA:244 | Primary ciliary dyskinesia | | | | 527 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DNAH9 CL E G H | 1770 | 2953 | ORPHA:244 | Primary ciliary dyskinesia | | | | 18 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DNAI1 CL E G H | 27019 | 2954 | OMIM:244400 | Ciliary dyskinesia, primary, 1 | | | | 73 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DNAI1 CL E G H | 27019 | 2954 | ORPHA:244 | Primary ciliary dyskinesia | | | | 73 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DNAI2 CL E G H | 64446 | 18744 | OMIM:612444 | CILIARY DYSKINESIA, PRIMARY, 9; CILD9 | | | | 104 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DNAI2 CL E G H | 64446 | 18744 | ORPHA:244 | Primary ciliary dyskinesia | | | | 104 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DNAJB13 CL E G H | 374407 | 30718 | ORPHA:244 | Primary ciliary dyskinesia | | | | 2 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DNAL1 CL E G H | 83544 | 23247 | OMIM:614017 | CILIARY DYSKINESIA, PRIMARY, 16; CILD16 | | | | 167 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DNAL1 CL E G H | 83544 | 23247 | ORPHA:244 | Primary ciliary dyskinesia | | | | 167 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | | | | 6 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DOCK8 CL E G H | 81704 | 19191 | ORPHA:217390 | Combined immunodeficiency due to DOCK8 deficiency | | | | 217 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | | | | 217 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DPF2 CL E G H | 5977 | 9964 | OMIM:618027 | Coffin-Siris syndrome 7 | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DRC1 CL E G H | 92749 | 24245 | OMIM:615294 | CILIARY DYSKINESIA, PRIMARY, 21; CILD21 | | | | 44 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | DRC1 CL E G H | 92749 | 24245 | ORPHA:244 | Primary ciliary dyskinesia | | | | 44 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | ELANE CL E G H | 1991 | 3309 | ORPHA:2686 | Cyclic neutropenia | HP:0040283 - Occasional | | | 79 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | | | | 172 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | HP:0040283 - Occasional | | | 250 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | FCGR3A CL E G H | 2214 | 3619 | OMIM:615707 | Immunodeficiency 20 | | | | 4 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | FGF3 CL E G H | 2248 | 3681 | ORPHA:2791 | Otodental syndrome | | | | 18 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101200 | Apert syndrome | | | | 175 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:100800 | ACHONDROPLASIA | | | | 145 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:616482 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | . | | | 145 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:602849 | Muenke syndrome | | | | 145 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:309350 | Melnick-Needles syndrome | | | | 493 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:908 | Fragile X syndrome | HP:0040282 - Frequent | | | 30 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:449291 | Symptomatic form of fragile X syndrome in female carriers | | | | 30 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | FOXJ1 CL E G H | 2302 | 3816 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | FOXP1 CL E G H | 27086 | 3823 | ORPHA:391372 | Intellectual disability-severe speech delay-mild dysmorphism syndrome | | | | 184 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | | | | 37 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | GAS2L2 CL E G H | 246176 | 24846 | OMIM:618449 | Ciliary dyskinesia, primary, 41 | | | | 1 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | GAS2L2 CL E G H | 246176 | 24846 | ORPHA:244 | Primary ciliary dyskinesia | | | | 1 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | GAS8 CL E G H | 2622 | 4166 | OMIM:616726 | Ciliary dyskinesia, primary, 33 | | | | 9 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | GAS8 CL E G H | 2622 | 4166 | ORPHA:244 | Primary ciliary dyskinesia | | | | 9 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | GATA2 CL E G H | 2624 | 4171 | ORPHA:3226 | Deafness-lymphedema-leukemia syndrome | | | | 137 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | GLRA2 CL E G H | 2742 | 4327 | OMIM:301076 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | | | | 240 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | HP:0040282 - Frequent | | | 240 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 8 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | GRHL3 CL E G H | 57822 | 25839 | ORPHA:99772 | Cleft velum | | | | 12 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | GUSB CL E G H | 2990 | 4696 | OMIM:253220 | Mucopolysaccharidosis, type VII | | | | 54 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | H4C3 CL E G H | 8364 | 4787 | OMIM:619758 | TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1 | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | HEPHL1 CL E G H | 341208 | 30477 | OMIM:261990 | PILI TORTI AND DEVELOPMENTAL DELAY | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 3 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | HLA-DPA1 CL E G H | 3113 | 4938 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040281 - Very frequent | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040281 - Very frequent | | | 1 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | HYAL1 CL E G H | 3373 | 5320 | OMIM:601492 | Mucopolysaccharidosis type IX | | | | 28 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | HYDIN CL E G H | 54768 | 19368 | OMIM:608647 | Ciliary dyskinesia, primary, 5 | | | | 21 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | HYDIN CL E G H | 54768 | 19368 | ORPHA:244 | Primary ciliary dyskinesia | | | | 21 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | ICOS CL E G H | 29851 | 5351 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 32 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | | | | 32 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | ICOS CL E G H | 29851 | 5351 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 32 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | | | | 86 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | | | | 115 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | IGHG2 CL E G H | 3501 | 5526 | ORPHA:183675 | Recurrent infections associated with rare immunoglobulin isotypes deficiency | | | | 1 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | IGHM CL E G H | 3507 | 5541 | OMIM:601495 | Agammaglobulinemia 1, autosomal recessive | | | | 7 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | IGHM CL E G H | 3507 | 5541 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 7 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | IGKC CL E G H | 3514 | 5716 | ORPHA:183675 | Recurrent infections associated with rare immunoglobulin isotypes deficiency | | | | 5 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | IGLL1 CL E G H | 3543 | 5870 | OMIM:613500 | Agammaglobulinemia 2, autosomal recessive | | | | 3 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | IGLL1 CL E G H | 3543 | 5870 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 3 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | IL11RA CL E G H | 3590 | 5967 | OMIM:614188 | Craniosynostosis and dental anomalies | | | | 8 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | IL17RA CL E G H | 23765 | 5985 | OMIM:613953 | Immunodeficiency 51 | | | | 196 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | IL21R CL E G H | 50615 | 6006 | OMIM:615207 | IMMUNODEFICIENCY 56; IMD56 | | | | 7 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | IL2RB CL E G H | 3560 | 6009 | OMIM:618495 | Immunodeficiency 63 with lymphoproliferation and autoimmunity | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | IL2RG CL E G H | 3561 | 6010 | OMIM:312863 | Combined immunodeficiency, X-linked | . | | | 48 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | IL6R CL E G H | 3570 | 6019 | OMIM:618944 | HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5 | | | | 1 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:618523 | HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 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:0000388 | HP:0000388 | Otitis media | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | | | | 119 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 4 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:199306 | Cleft lip/palate | | | | 99 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:199302 | Isolated cleft lip | | | | 99 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | JAGN1 CL E G H | 84522 | 26926 | OMIM:616022 | Neutropenia, severe congenital, 6, autosomal recessive | | | | 8 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | JAK3 CL E G H | 3718 | 6193 | OMIM:600802 | Scid, autosomal recessive, T-Negative/b-Positive type | | | | 140 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | | | | 140 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 2 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | | | | 283 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | | | | 283 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | KDM6A CL E G H | 7403 | 12637 | OMIM:147920 | Kabuki syndrome 1 | | | | 53 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | KDM6A CL E G H | 7403 | 12637 | OMIM:300867 | Kabuki syndrome 2 | | | | 53 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | KMT2D CL E G H | 8085 | 7133 | OMIM:147920 | Kabuki syndrome 1 | | | | 660 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | KMT5B CL E G H | 51111 | 24283 | OMIM:617788 | Mental retardation, autosomal dominant 51 | | | | 2 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | LBR CL E G H | 3930 | 6518 | OMIM:169400 | Pelger-Huet anomaly | | | | 70 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | LIG1 CL E G H | 3978 | 6598 | OMIM:619774 | IMMUNODEFICIENCY 96; IMD96 | | | | 9 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | LIPN CL E G H | 643418 | 23452 | ORPHA:313 | Lamellar ichthyosis | | | | 1 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | LRRC56 CL E G H | 115399 | 25430 | OMIM:618254 | CILIARY DYSKINESIA, PRIMARY, 39; CILD39 | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | LRRC56 CL E G H | 115399 | 25430 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | LRRC8A CL E G H | 56262 | 19027 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 3 | | |
HP:0000388 | HP:0000388 | Otitis media | 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:0000388 | HP:0000388 | Otitis media | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | HP:0040281 - Very frequent | | | 136 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:157800 | Cardiospondylocarpofacial syndrome | | | | 11 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | MCIDAS CL E G H | 345643 | 40050 | ORPHA:244 | Primary ciliary dyskinesia | | | | 13 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | | | | 1 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | MGP CL E G H | 4256 | 7060 | ORPHA:85202 | Keutel syndrome | | | | 33 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | MGP CL E G H | 4256 | 7060 | OMIM:245150 | Keutel syndrome | | | | 33 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | MNS1 CL E G H | 55329 | 29636 | OMIM:618948 | HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9 | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | MS4A1 CL E G H | 931 | 7315 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | MSX1 CL E G H | 4487 | 7391 | ORPHA:199306 | Cleft lip/palate | | | | 12 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | MSX1 CL E G H | 4487 | 7391 | ORPHA:199302 | Isolated cleft lip | | | | 12 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:309800 | Microphthalmia, syndromic 1 | | | | 23 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | NBN CL E G H | 4683 | 7652 | OMIM:251260 | Nijmegen breakage syndrome | . | | | 706 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 13 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | | | | 13 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | NCF2 CL E G H | 4688 | 7661 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 67 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | NCF4 CL E G H | 4689 | 7662 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 37 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | NCKAP1L CL E G H | 3071 | 4862 | OMIM:618982 | IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72 | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:199306 | Cleft lip/palate | | | | 4 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:199302 | Isolated cleft lip | | | | 4 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | NEK10 CL E G H | 152110 | 18592 | OMIM:618781 | CILIARY DYSKINESIA, PRIMARY, 44; CILD44 | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | NEK10 CL E G H | 152110 | 18592 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | NFKB1 CL E G H | 4790 | 7794 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 7 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 11 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | | | | 11 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | NFKB2 CL E G H | 4791 | 7795 | OMIM:615577 | Immunodeficiency, common variable, 10 | | | | 11 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | NIPAL4 CL E G H | 348938 | 28018 | ORPHA:313 | Lamellar ichthyosis | | | | 60 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | . | | | 494 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | NME5 CL E G H | 8382 | 7853 | OMIM:620032 | | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | NME8 CL E G H | 51314 | 16473 | ORPHA:244 | Primary ciliary dyskinesia | | | | 50 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | | | | 544 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | NSD1 CL E G H | 64324 | 14234 | OMIM:117550 | Sotos syndrome 1 | | | | 544 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | | | | 2 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | | | | 88 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | ODAD1 CL E G H | 93233 | 26560 | OMIM:615067 | Ciliary dyskinesia, primary, 20 | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | ODAD1 CL E G H | 93233 | 26560 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | ODAD2 CL E G H | 55130 | 25583 | OMIM:615451 | CILIARY DYSKINESIA, PRIMARY, 23; CILD23 | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | ODAD2 CL E G H | 55130 | 25583 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | ODAD3 CL E G H | 115948 | 28303 | OMIM:616037 | Ciliary dyskinesia, primary, 30 | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | ODAD3 CL E G H | 115948 | 28303 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | ODAD4 CL E G H | 83538 | 25280 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | | | | 201 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:244 | Primary ciliary dyskinesia | | | | 201 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | PCYT1A CL E G H | 5130 | 8754 | OMIM:608940 | Spondylometaphyseal dysplasia with cone-rod dystrophy | | | | 11 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | PDGFRA CL E G H | 5156 | 8803 | ORPHA:199306 | Cleft lip/palate | | | | 337 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | PGM1 CL E G H | 5236 | 8905 | OMIM:614921 | Congenital disorder of glycosylation, type It | | | | 58 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | | | | 15 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | PHIP CL E G H | 55023 | 15673 | ORPHA:589905 | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | | | | 11 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 7 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 43 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | PLCG2 CL E G H | 5336 | 9066 | OMIM:614468 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3 | | | | 21 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | PNP CL E G H | 4860 | 7892 | OMIM:613179 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | . | | | 52 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | PRKAR1B CL E G H | 5575 | 9390 | OMIM:619680 | MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS | | | | 2 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 10 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | PRTN3 CL E G H | 5657 | 9495 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040281 - Very frequent | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | PSMD12 CL E G H | 5718 | 9557 | ORPHA:529962 | 17q24.2 microdeletion syndrome | | | | 4 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040281 - Very frequent | | | 3 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | RAC1 CL E G H | 5879 | 9801 | OMIM:617751 | Mental retardation, autosomal dominant 48 | | | | 3 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | RAC1 CL E G H | 5879 | 9801 | ORPHA:500159 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | | | | 3 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0000388 | HP:0000388 | Otitis media | 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:0000388 | HP:0000388 | Otitis media | 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:0000388 | HP:0000388 | Otitis media | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | | | | 150 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | RELB CL E G H | 5971 | 9956 | OMIM:617585 | Immunodeficiency 53 | | | | 1 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | RFX5 CL E G H | 5993 | 9986 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 38 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | RFXANK CL E G H | 8625 | 9987 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 26 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | RFXAP CL E G H | 5994 | 9988 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 34 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | RNF168 CL E G H | 165918 | 26661 | ORPHA:420741 | RIDDLE syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | RNF2 CL E G H | 6045 | 10061 | OMIM:619460 | LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | | | | 15 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:616651 | Roifman syndrome | | | | 15 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | | | | 120 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:244 | Primary ciliary dyskinesia | | | | 200 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | RPGR CL E G H | 6103 | 10295 | OMIM:300455 | RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS | | | | 200 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | RPL11 CL E G H | 6135 | 10301 | OMIM:612562 | Diamond-Blackfan anemia 7 | | | | 22 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | RSPH1 CL E G H | 89765 | 12371 | ORPHA:244 | Primary ciliary dyskinesia | | | | 31 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | RSPH3 CL E G H | 83861 | 21054 | OMIM:616481 | Ciliary dyskinesia, primary, 32 | | | | 5 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | RSPH3 CL E G H | 83861 | 21054 | ORPHA:244 | Primary ciliary dyskinesia | | | | 5 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | RSPH4A CL E G H | 345895 | 21558 | ORPHA:244 | Primary ciliary dyskinesia | | | | 58 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | RSPH9 CL E G H | 221421 | 21057 | OMIM:612650 | CILIARY DYSKINESIA, PRIMARY, 12; CILD12 | | | | 20 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | RSPH9 CL E G H | 221421 | 21057 | ORPHA:244 | Primary ciliary dyskinesia | | | | 20 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | | | | 90 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | SDCCAG8 CL E G H | 10806 | 10671 | OMIM:615993 | Bardet-Biedl syndrome 16 | | | | 61 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | SDR9C7 CL E G H | 121214 | 29958 | ORPHA:313 | Lamellar ichthyosis | | | | 2 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | SETD2 CL E G H | 29072 | 18420 | OMIM:616831 | Luscan-Lumish syndrome | | | | 60 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | | | | 60 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | SH3KBP1 CL E G H | 30011 | 13867 | OMIM:300310 | Immunodeficiency 61 | | | | 2 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | SLC25A12 CL E G H | 8604 | 10982 | OMIM:612949 | Epileptic encephalopathy, early infantile, 39 | | | | 44 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | SLC35C1 CL E G H | 55343 | 20197 | OMIM:266265 | Congenital disorder of glycosylation, type IIc | | | | 71 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | | | | 71 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:619525 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W | | | | 110 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | SMARCA2 CL E G H | 6595 | 11098 | ORPHA:2728 | Blepharophimosis-intellectual disability syndrome, Ohdo type | | | | 146 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | SMARCD2 CL E G H | 6603 | 11107 | OMIM:617475 | SPECIFIC GRANULE DEFICIENCY 2; SGD2 | | | | 3 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | SMG9 CL E G H | 56006 | 25763 | OMIM:619995 | | | | | 2 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | SNX10 CL E G H | 29887 | 14974 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 2 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | SPAG1 CL E G H | 6674 | 11212 | OMIM:615505 | Ciliary dyskinesia, primary, 28 | | | | 45 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | SPAG1 CL E G H | 6674 | 11212 | ORPHA:244 | Primary ciliary dyskinesia | | | | 45 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | SPEF2 CL E G H | 79925 | 26293 | ORPHA:244 | Primary ciliary dyskinesia | | | | 15 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | | | | 138 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:1772 | 45,X/46,XY mixed gonadal dysgenesis | | | | 23 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:2314 | Autosomal dominant hyper-IgE syndrome | | | | 110 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | STK36 CL E G H | 27148 | 17209 | OMIM:619436 | CILIARY DYSKINESIA, PRIMARY, 46; CILD46 | | | | 3 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | STK36 CL E G H | 27148 | 17209 | ORPHA:244 | Primary ciliary dyskinesia | | | | 3 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | SULT2B1 CL E G H | 6820 | 11459 | ORPHA:313 | Lamellar ichthyosis | | | | 4 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | TAF1 CL E G H | 6872 | 11535 | ORPHA:480907 | X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome | | | | 21 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | TAOK1 CL E G H | 57551 | 29259 | OMIM:619575 | DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | TAP1 CL E G H | 6890 | 43 | OMIM:604571 | Bare lymphocyte syndrome, type I | | | | 5 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | TAP2 CL E G H | 6891 | 44 | OMIM:604571 | Bare lymphocyte syndrome, type I | | | | 17 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | TAPBP CL E G H | 6892 | 11566 | OMIM:604571 | Bare lymphocyte syndrome, type I | | | | 3 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 32 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | | | | 32 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | TBX4 CL E G H | 9496 | 11603 | ORPHA:261279 | 17q23.1q23.2 microdeletion syndrome | | | | 55 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | TCF3 CL E G H | 6929 | 11633 | OMIM:616941 | Agammaglobulinemia 8, autosomal dominant | | | | 2 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | TCF3 CL E G H | 6929 | 11633 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 2 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 82 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | TGDS CL E G H | 23483 | 20324 | ORPHA:1388 | Catel-Manzke syndrome | | | | 6 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | TGM1 CL E G H | 7051 | 11777 | ORPHA:313 | Lamellar ichthyosis | | | | 98 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | TLK2 CL E G H | 11011 | 11842 | OMIM:618050 | Mental retardation, autosomal dominant 57 | . | | | 1 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | | | | 6 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | TNFRSF13B CL E G H | 23495 | 18153 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 32 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | TNFRSF13B CL E G H | 23495 | 18153 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 32 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | TNFRSF13C CL E G H | 115650 | 17755 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 12 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | TNFRSF13C CL E G H | 115650 | 17755 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 12 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | TNFSF11 CL E G H | 8600 | 11926 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 44 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | TNFSF12 CL E G H | 8742 | 11927 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | TNRC6B CL E G H | 23112 | 29190 | OMIM:619243 | GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:199306 | Cleft lip/palate | | | | 140 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:199302 | Isolated cleft lip | | | | 140 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | | | | 140 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | TP73 CL E G H | 7161 | 12003 | OMIM:619466 | CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY; CILD47 | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | TPP2 CL E G H | 7174 | 12016 | ORPHA:444463 | Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | TPP2 CL E G H | 7174 | 12016 | OMIM:619220 | IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78 | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | TTC12 CL E G H | 54970 | 23700 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | UBB CL E G H | 7314 | 12463 | ORPHA:99772 | Cleft velum | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | UNC119 CL E G H | 9094 | 12565 | OMIM:615518 | IMMUNODEFICIENCY 13; IMD13 | | | | 30 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | USB1 CL E G H | 79650 | 25792 | OMIM:604173 | Poikiloderma with neutropenia | | | | 8 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | WDR26 CL E G H | 80232 | 21208 | ORPHA:513456 | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome | | | | 8 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | WDR26 CL E G H | 80232 | 21208 | OMIM:617616 | Skraban-Deardorff syndrome | | | | 8 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | ZEB2 CL E G H | 9839 | 14881 | OMIM:235730 | Mowat-Wilson syndrome | | | | 362 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | | | | 362 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | | | | 362 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | ZMYND10 CL E G H | 51364 | 19412 | OMIM:615444 | Ciliary dyskinesia, primary, 22 | | | | 20 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | ZMYND10 CL E G H | 51364 | 19412 | ORPHA:244 | Primary ciliary dyskinesia | | | | 20 | | |
HP:0000388 | HP:0000388 | Otitis media | 0 | ZNF341 CL E G H | 84905 | 15992 | OMIM:618282 | Hyper-Ige recurrent infection syndrome 3, autosomal recessive | | | | 1 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | A2ML1 CL E G H | 144568 | 23336 | OMIM:166760 | Otitis media, susceptibility to | | | | 120 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 130 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | . | | | 16 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | ADA CL E G H | 100 | 186 | ORPHA:277 | Severe combined immunodeficiency due to adenosine deaminase deficiency | HP:0040282 - Frequent | | | 75 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | ADAT3 CL E G H | 113179 | 25151 | OMIM:615286 | Mental retardation, autosomal recessive 36 | . | | | 9 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | AGA CL E G H | 175 | 318 | ORPHA:93 | Aspartylglucosaminuria | HP:0040283 - Occasional | | | 76 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | AK2 CL E G H | 204 | 362 | ORPHA:33355 | Reticular dysgenesis | HP:0040281 - Very frequent | | | 19 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | ALOX12B CL E G H | 242 | 430 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 75 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | ALOXE3 CL E G H | 59344 | 13743 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 63 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | ANAPC1 CL E G H | 64682 | 19988 | OMIM:618625 | ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1 | | | | 2 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | ANKRD11 CL E G H | 29123 | 21316 | ORPHA:261250 | 16q24.3 microdeletion syndrome | HP:0040283 - Occasional | | | 102 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | ARHGAP29 CL E G H | 9411 | 30207 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | 6 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | ASPRV1 CL E G H | 151516 | 26321 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 1 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | ATN1 CL E G H | 1822 | 3033 | OMIM:618494 | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | . | | | 16 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | BAP1 CL E G H | 8314 | 950 | OMIM:619762 | KURY-ISIDOR SYNDROME; KURIS | | | | 184 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 101 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | BLNK CL E G H | 29760 | 14211 | OMIM:613502 | Agammaglobulinemia 4, autosomal recessive | . | | | 4 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | BLNK CL E G H | 29760 | 14211 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 4 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | BMP4 CL E G H | 652 | 1071 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | 38 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | BPTF CL E G H | 2186 | 3581 | ORPHA:529962 | 17q24.2 microdeletion syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | BTK CL E G H | 695 | 1133 | OMIM:300755 | Agammaglobulinemia, X-linked | | | | 109 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | BTK CL E G H | 695 | 1133 | OMIM:307200 | Isolated growth hormone deficiency, type III, with agammaglobulinemia | | | | 109 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | BTK CL E G H | 695 | 1133 | ORPHA:47 | X-linked agammaglobulinemia | HP:0040281 - Very frequent | | | 109 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | C4B CL E G H | 721 | 1324 | OMIM:614379 | Complement component 4B deficiency | | | | 1 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | CCDC103 CL E G H | 388389 | 32700 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 36 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | CCDC103 CL E G H | 388389 | 32700 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 36 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | CCDC39 CL E G H | 339829 | 25244 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 126 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | CCDC39 CL E G H | 339829 | 25244 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 126 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | CCDC40 CL E G H | 55036 | 26090 | OMIM:613808 | CILIARY DYSKINESIA, PRIMARY, 15; CILD15 | | | | 182 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | CCDC40 CL E G H | 55036 | 26090 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 182 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | CCDC40 CL E G H | 55036 | 26090 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 182 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | CCDC65 CL E G H | 85478 | 29937 | OMIM:615504 | Ciliary dyskinesia, primary, 27 | . | | | 23 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | CCDC65 CL E G H | 85478 | 29937 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 23 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | CCDC65 CL E G H | 85478 | 29937 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 23 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | CCNO CL E G H | 10309 | 18576 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 23 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | CCNO CL E G H | 10309 | 18576 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 23 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | CD19 CL E G H | 930 | 1633 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 38 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | CD19 CL E G H | 930 | 1633 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 38 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | CD19 CL E G H | 930 | 1633 | OMIM:613493 | IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3 | | | | 38 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | CD3D CL E G H | 915 | 1673 | OMIM:615617 | Immunodeficiency 19 | . | | | 18 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | CD3E CL E G H | 916 | 1674 | OMIM:615615 | Immunodeficiency 18 | . | | | 24 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | . | | | 19 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | CD4 CL E G H | 920 | 1678 | OMIM:619238 | IMMUNODEFICIENCY 79; IMD79 | | | | 1 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | CD79A CL E G H | 973 | 1698 | OMIM:613501 | Agammaglobulinemia 3, autosomal recessive | . | | | 9 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | CD79A CL E G H | 973 | 1698 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 9 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | CD79B CL E G H | 974 | 1699 | OMIM:612692 | Agammaglobulinemia 6, autosomal recessive | . | | | 6 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | CD79B CL E G H | 974 | 1699 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 6 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | CD81 CL E G H | 975 | 1701 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | CDH1 CL E G H | 999 | 1748 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | 1003 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | CFAP221 CL E G H | 200373 | 33720 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | CFAP221 CL E G H | 200373 | 33720 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | CFAP298 CL E G H | 56683 | 1301 | OMIM:615500 | Ciliary dyskinesia, primary, 26 | | | | | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | CFAP298 CL E G H | 56683 | 1301 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | CFAP298 CL E G H | 56683 | 1301 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | CFAP300 CL E G H | 85016 | 28188 | OMIM:618063 | Ciliary dyskinesia, primary, 38 | . | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | CFAP300 CL E G H | 85016 | 28188 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | CFAP300 CL E G H | 85016 | 28188 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | CFAP45 CL E G H | 25790 | 17229 | OMIM:619608 | HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11 | | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | CFAP52 CL E G H | 146845 | 16053 | OMIM:619607 | HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10 | | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | CFI CL E G H | 3426 | 5394 | OMIM:610984 | Complement factor I deficiency | . | | | 57 | | |
HP:0000388 | HP:0000371 | Acute otitis media | 1 | CIITA CL E G H | 4261 | 7067 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040283 - Occasional | | | 118 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | COL11A1 CL E G H | 1301 | 2186 | OMIM:154780 | Marshall syndrome | | | | 215 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:156550 | Kniest dysplasia | . | | | 284 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | CR2 CL E G H | 1380 | 2336 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 10 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | CR2 CL E G H | 1380 | 2336 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 10 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | 10 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | CYP4F22 CL E G H | 126410 | 26820 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 54 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | DDB1 CL E G H | 1642 | 2717 | OMIM:619426 | WHITE-KERNOHAN SYNDROME; WHIKERS | | | | | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | DLG1 CL E G H | 1739 | 2900 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | HP:0040283 - Occasional | | | 1 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | DLX4 CL E G H | 1748 | 2917 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | 1 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | DNAAF1 CL E G H | 123872 | 30539 | OMIM:613193 | Ciliary dyskinesia, primary, 13 | . | | | 116 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | DNAAF1 CL E G H | 123872 | 30539 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 116 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | DNAAF1 CL E G H | 123872 | 30539 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 116 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | DNAAF11 CL E G H | 23639 | 16725 | OMIM:614935 | Ciliary dyskinesia, primary, 19 | . | | | | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | DNAAF11 CL E G H | 23639 | 16725 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | DNAAF11 CL E G H | 23639 | 16725 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | DNAAF2 CL E G H | 55172 | 20188 | OMIM:612518 | CILIARY DYSKINESIA, PRIMARY, 10; CILD10 | | | | 78 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | DNAAF2 CL E G H | 55172 | 20188 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 78 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | DNAAF2 CL E G H | 55172 | 20188 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 78 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | DNAAF3 CL E G H | 352909 | 30492 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 63 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | DNAAF3 CL E G H | 352909 | 30492 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 63 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | DNAAF4 CL E G H | 161582 | 21493 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 27 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | DNAAF4 CL E G H | 161582 | 21493 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 27 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | DNAAF5 CL E G H | 54919 | 26013 | OMIM:614874 | Ciliary dyskinesia, primary, 18 | . | | | 62 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | DNAAF5 CL E G H | 54919 | 26013 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 62 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | DNAAF5 CL E G H | 54919 | 26013 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 62 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | DNAAF6 CL E G H | 139212 | 28570 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | DNAAF6 CL E G H | 139212 | 28570 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | DNAH1 CL E G H | 25981 | 2940 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 21 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | DNAH1 CL E G H | 25981 | 2940 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 21 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | DNAH11 CL E G H | 8701 | 2942 | OMIM:611884 | CILIARY DYSKINESIA, PRIMARY, 7; CILD7 | | | | 542 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | DNAH11 CL E G H | 8701 | 2942 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 542 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | DNAH11 CL E G H | 8701 | 2942 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 542 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | DNAH5 CL E G H | 1767 | 2950 | OMIM:608644 | CILIARY DYSKINESIA, PRIMARY, 3; CILD3 | | | | 527 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | DNAH5 CL E G H | 1767 | 2950 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 527 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | DNAH5 CL E G H | 1767 | 2950 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 527 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | DNAH9 CL E G H | 1770 | 2953 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 18 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | DNAH9 CL E G H | 1770 | 2953 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 18 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | DNAI1 CL E G H | 27019 | 2954 | OMIM:244400 | Ciliary dyskinesia, primary, 1 | . | | | 73 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | DNAI1 CL E G H | 27019 | 2954 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 73 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | DNAI1 CL E G H | 27019 | 2954 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 73 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | DNAI2 CL E G H | 64446 | 18744 | OMIM:612444 | CILIARY DYSKINESIA, PRIMARY, 9; CILD9 | | | | 104 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | DNAI2 CL E G H | 64446 | 18744 | OMIM:612444 | CILIARY DYSKINESIA, PRIMARY, 9; CILD9 | | | | 104 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | DNAI2 CL E G H | 64446 | 18744 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 104 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | DNAI2 CL E G H | 64446 | 18744 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 104 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | DNAJB13 CL E G H | 374407 | 30718 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 2 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | DNAJB13 CL E G H | 374407 | 30718 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 2 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | DNAL1 CL E G H | 83544 | 23247 | OMIM:614017 | CILIARY DYSKINESIA, PRIMARY, 16; CILD16 | | | | 167 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | DNAL1 CL E G H | 83544 | 23247 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 167 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | DNAL1 CL E G H | 83544 | 23247 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 167 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | | | | 6 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | DOCK8 CL E G H | 81704 | 19191 | ORPHA:217390 | Combined immunodeficiency due to DOCK8 deficiency | HP:0040281 - Very frequent | | | 217 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | | | | 217 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | DPF2 CL E G H | 5977 | 9964 | OMIM:618027 | Coffin-Siris syndrome 7 | . | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | DRC1 CL E G H | 92749 | 24245 | OMIM:615294 | CILIARY DYSKINESIA, PRIMARY, 21; CILD21 | | | | 44 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | DRC1 CL E G H | 92749 | 24245 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 44 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | DRC1 CL E G H | 92749 | 24245 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 44 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 172 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | FCGR3A CL E G H | 2214 | 3619 | OMIM:615707 | Immunodeficiency 20 | | | | 4 | | |
HP:0000388 | HP:0031353 | Otitis media with effusion | 1 | FGF3 CL E G H | 2248 | 3681 | ORPHA:2791 | Otodental syndrome | HP:0040283 - Occasional | | | 18 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101200 | Apert syndrome | . | | | 175 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:100800 | ACHONDROPLASIA | . | | | 145 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:602849 | Muenke syndrome | | | | 145 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:309350 | Melnick-Needles syndrome | . | | | 493 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | FMR1 CL E G H | 2332 | 3775 | ORPHA:908 | Fragile X syndrome | HP:0040281 - Very frequent | | | 30 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | FMR1 CL E G H | 2332 | 3775 | ORPHA:449291 | Symptomatic form of fragile X syndrome in female carriers | HP:0040284 - Very rare | | | 30 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | FOXJ1 CL E G H | 2302 | 3816 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | FOXJ1 CL E G H | 2302 | 3816 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | FOXP1 CL E G H | 27086 | 3823 | ORPHA:391372 | Intellectual disability-severe speech delay-mild dysmorphism syndrome | HP:0040282 - Frequent | | | 184 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | GAS2L2 CL E G H | 246176 | 24846 | OMIM:618449 | Ciliary dyskinesia, primary, 41 | | | | 1 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | GAS2L2 CL E G H | 246176 | 24846 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 1 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | GAS2L2 CL E G H | 246176 | 24846 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 1 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | GAS8 CL E G H | 2622 | 4166 | OMIM:616726 | Ciliary dyskinesia, primary, 33 | | | | 9 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | GAS8 CL E G H | 2622 | 4166 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 9 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | GAS8 CL E G H | 2622 | 4166 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 9 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | GATA2 CL E G H | 2624 | 4171 | ORPHA:3226 | Deafness-lymphedema-leukemia syndrome | HP:0040282 - Frequent | | | 137 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | GLRA2 CL E G H | 2742 | 4327 | OMIM:301076 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP | | | | | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | . | | | 240 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | GRHL3 CL E G H | 57822 | 25839 | ORPHA:99772 | Cleft velum | HP:0040283 - Occasional | | | 12 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | GUSB CL E G H | 2990 | 4696 | OMIM:253220 | Mucopolysaccharidosis, type VII | | | | 54 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | H4C3 CL E G H | 8364 | 4787 | OMIM:619758 | TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1 | | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | HEPHL1 CL E G H | 341208 | 30477 | OMIM:261990 | PILI TORTI AND DEVELOPMENTAL DELAY | | | | | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | HLA-DPA1 CL E G H | 3113 | 4938 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | 1 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | HYAL1 CL E G H | 3373 | 5320 | OMIM:601492 | Mucopolysaccharidosis type IX | | | | 28 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | HYDIN CL E G H | 54768 | 19368 | OMIM:608647 | Ciliary dyskinesia, primary, 5 | . | | | 21 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | HYDIN CL E G H | 54768 | 19368 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 21 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | HYDIN CL E G H | 54768 | 19368 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 21 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | ICOS CL E G H | 29851 | 5351 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 32 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | . | | | 32 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | ICOS CL E G H | 29851 | 5351 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 32 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | . | | | 86 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | | | | 115 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | IGHG2 CL E G H | 3501 | 5526 | ORPHA:183675 | Recurrent infections associated with rare immunoglobulin isotypes deficiency | | | | 1 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | IGHM CL E G H | 3507 | 5541 | OMIM:601495 | Agammaglobulinemia 1, autosomal recessive | . | | | 7 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | IGHM CL E G H | 3507 | 5541 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 7 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | IGKC CL E G H | 3514 | 5716 | ORPHA:183675 | Recurrent infections associated with rare immunoglobulin isotypes deficiency | | | | 5 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | IGLL1 CL E G H | 3543 | 5870 | OMIM:613500 | Agammaglobulinemia 2, autosomal recessive | | | | 3 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | IGLL1 CL E G H | 3543 | 5870 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 3 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | IL11RA CL E G H | 3590 | 5967 | OMIM:614188 | Craniosynostosis and dental anomalies | | | | 8 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | IL17RA CL E G H | 23765 | 5985 | OMIM:613953 | Immunodeficiency 51 | | | | 196 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | IL21R CL E G H | 50615 | 6006 | OMIM:615207 | IMMUNODEFICIENCY 56; IMD56 | | | | 7 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | IL2RB CL E G H | 3560 | 6009 | OMIM:618495 | Immunodeficiency 63 with lymphoproliferation and autoimmunity | . | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | IL6R CL E G H | 3570 | 6019 | OMIM:618944 | HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5 | | | | 1 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | IL6ST CL E G H | 3572 | 6021 | OMIM:618523 | HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B | | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 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:0000388 | HP:0000389 | Chronic otitis media | 1 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | 119 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 4 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | IRF6 CL E G H | 3664 | 6121 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | 99 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | IRF6 CL E G H | 3664 | 6121 | ORPHA:199302 | Isolated cleft lip | HP:0040282 - Frequent | | | 99 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | JAGN1 CL E G H | 84522 | 26926 | OMIM:616022 | Neutropenia, severe congenital, 6, autosomal recessive | . | | | 8 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | JAK3 CL E G H | 3718 | 6193 | OMIM:600802 | Scid, autosomal recessive, T-Negative/b-Positive type | | | | 140 | | |
HP:0000388 | HP:0000371 | Acute otitis media | 1 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | HP:0040283 - Occasional | | | 140 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | HP:0040283 - Occasional | | | 283 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | HP:0040283 - Occasional | | | 283 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | KDM6A CL E G H | 7403 | 12637 | OMIM:147920 | Kabuki syndrome 1 | . | | | 53 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | KDM6A CL E G H | 7403 | 12637 | OMIM:300867 | Kabuki syndrome 2 | | | | 53 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | KMT2D CL E G H | 8085 | 7133 | OMIM:147920 | Kabuki syndrome 1 | . | | | 660 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | KMT5B CL E G H | 51111 | 24283 | OMIM:617788 | Mental retardation, autosomal dominant 51 | | | | 2 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | LBR CL E G H | 3930 | 6518 | OMIM:169400 | Pelger-Huet anomaly | | | | 70 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | LIG1 CL E G H | 3978 | 6598 | OMIM:619774 | IMMUNODEFICIENCY 96; IMD96 | | | | 9 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | LIPN CL E G H | 643418 | 23452 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 1 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | LRRC56 CL E G H | 115399 | 25430 | OMIM:618254 | CILIARY DYSKINESIA, PRIMARY, 39; CILD39 | | | | | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | LRRC56 CL E G H | 115399 | 25430 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | LRRC56 CL E G H | 115399 | 25430 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | LRRC8A CL E G H | 56262 | 19027 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 3 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | MAGT1 CL E G H | 84061 | 28880 | OMIM:300853 | IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN | | | | 17 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:157800 | Cardiospondylocarpofacial syndrome | . | | | 11 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | MCIDAS CL E G H | 345643 | 40050 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 13 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | MCIDAS CL E G H | 345643 | 40050 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 13 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | HP:0040283 - Occasional | | | 1 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | MGP CL E G H | 4256 | 7060 | ORPHA:85202 | Keutel syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | MGP CL E G H | 4256 | 7060 | OMIM:245150 | Keutel syndrome | . | | | 33 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | MNS1 CL E G H | 55329 | 29636 | OMIM:618948 | HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9 | | | | | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | MS4A1 CL E G H | 931 | 7315 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | MSX1 CL E G H | 4487 | 7391 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | 12 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | MSX1 CL E G H | 4487 | 7391 | ORPHA:199302 | Isolated cleft lip | HP:0040282 - Frequent | | | 12 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | NAA10 CL E G H | 8260 | 18704 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 23 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | NCKAP1L CL E G H | 3071 | 4862 | OMIM:618982 | IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72 | | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | 4 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:199302 | Isolated cleft lip | HP:0040282 - Frequent | | | 4 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | NEK10 CL E G H | 152110 | 18592 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | NEK10 CL E G H | 152110 | 18592 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | NFKB1 CL E G H | 4790 | 7794 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 7 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 11 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | NFKB2 CL E G H | 4791 | 7795 | OMIM:615577 | Immunodeficiency, common variable, 10 | | | | 11 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | NIPAL4 CL E G H | 348938 | 28018 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 60 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | NME5 CL E G H | 8382 | 7853 | OMIM:620032 | | | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | NME8 CL E G H | 51314 | 16473 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 50 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | NME8 CL E G H | 51314 | 16473 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 50 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | HP:0040282 - Frequent | | | 544 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 118 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040283 - Occasional | | | 88 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | ODAD1 CL E G H | 93233 | 26560 | OMIM:615067 | Ciliary dyskinesia, primary, 20 | . | | | | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | ODAD1 CL E G H | 93233 | 26560 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | ODAD1 CL E G H | 93233 | 26560 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | ODAD2 CL E G H | 55130 | 25583 | OMIM:615451 | CILIARY DYSKINESIA, PRIMARY, 23; CILD23 | | | | | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | ODAD2 CL E G H | 55130 | 25583 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | ODAD2 CL E G H | 55130 | 25583 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | ODAD3 CL E G H | 115948 | 28303 | OMIM:616037 | Ciliary dyskinesia, primary, 30 | . | | | | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | ODAD3 CL E G H | 115948 | 28303 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | ODAD3 CL E G H | 115948 | 28303 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | ODAD4 CL E G H | 83538 | 25280 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | ODAD4 CL E G H | 83538 | 25280 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | HP:0040283 - Occasional | | | 201 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | OFD1 CL E G H | 8481 | 2567 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 201 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | OFD1 CL E G H | 8481 | 2567 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 201 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | PCYT1A CL E G H | 5130 | 8754 | OMIM:608940 | Spondylometaphyseal dysplasia with cone-rod dystrophy | . | | | 11 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | PDGFRA CL E G H | 5156 | 8803 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | 337 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | PGM1 CL E G H | 5236 | 8905 | OMIM:614921 | Congenital disorder of glycosylation, type It | | | | 58 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040282 - Frequent | | | 15 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | PHIP CL E G H | 55023 | 15673 | ORPHA:589905 | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | | | | 11 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 43 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | PLCG2 CL E G H | 5336 | 9066 | OMIM:614468 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3 | | | | 21 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | PRKAR1B CL E G H | 5575 | 9390 | OMIM:619680 | MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS | | | | 2 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | PRKCD CL E G H | 5580 | 9399 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 10 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | PRTN3 CL E G H | 5657 | 9495 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | PSMD12 CL E G H | 5718 | 9557 | ORPHA:529962 | 17q24.2 microdeletion syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | 3 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | RAC1 CL E G H | 5879 | 9801 | OMIM:617751 | Mental retardation, autosomal dominant 48 | | | | 3 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | RAC1 CL E G H | 5879 | 9801 | ORPHA:500159 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | HP:0040283 - Occasional | | | 3 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | RELB CL E G H | 5971 | 9956 | OMIM:617585 | Immunodeficiency 53 | . | | | 1 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000371 | Acute otitis media | 1 | RFX5 CL E G H | 5993 | 9986 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040283 - Occasional | | | 38 | | |
HP:0000388 | HP:0000371 | Acute otitis media | 1 | RFXANK CL E G H | 8625 | 9987 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040283 - Occasional | | | 26 | | |
HP:0000388 | HP:0000371 | Acute otitis media | 1 | RFXAP CL E G H | 5994 | 9988 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040283 - Occasional | | | 34 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | RNF2 CL E G H | 6045 | 10061 | OMIM:619460 | LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM | | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:616651 | Roifman syndrome | . | | | 15 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040282 - Frequent | | | 120 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | RPGR CL E G H | 6103 | 10295 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 200 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | RPGR CL E G H | 6103 | 10295 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 200 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | RPL11 CL E G H | 6135 | 10301 | OMIM:612562 | Diamond-Blackfan anemia 7 | . | | | 22 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | RSPH1 CL E G H | 89765 | 12371 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 31 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | RSPH1 CL E G H | 89765 | 12371 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 31 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | RSPH3 CL E G H | 83861 | 21054 | OMIM:616481 | Ciliary dyskinesia, primary, 32 | | | | 5 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | RSPH3 CL E G H | 83861 | 21054 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 5 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | RSPH3 CL E G H | 83861 | 21054 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 5 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | RSPH4A CL E G H | 345895 | 21558 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 58 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | RSPH4A CL E G H | 345895 | 21558 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 58 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | RSPH9 CL E G H | 221421 | 21057 | OMIM:612650 | CILIARY DYSKINESIA, PRIMARY, 12; CILD12 | | | | 20 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | RSPH9 CL E G H | 221421 | 21057 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 20 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | RSPH9 CL E G H | 221421 | 21057 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 20 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | HP:0040283 - Occasional | | | | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | HP:0040282 - Frequent | | | 90 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | SDCCAG8 CL E G H | 10806 | 10671 | OMIM:615993 | Bardet-Biedl syndrome 16 | . | | | 61 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | SDR9C7 CL E G H | 121214 | 29958 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 2 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | SETD2 CL E G H | 29072 | 18420 | OMIM:616831 | Luscan-Lumish syndrome | . | | | 60 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | SH3KBP1 CL E G H | 30011 | 13867 | OMIM:300310 | Immunodeficiency 61 | . | | | 2 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | SLC25A12 CL E G H | 8604 | 10982 | OMIM:612949 | Epileptic encephalopathy, early infantile, 39 | | | | 44 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | SLC35C1 CL E G H | 55343 | 20197 | OMIM:266265 | Congenital disorder of glycosylation, type IIc | | | | 71 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | HP:0040283 - Occasional | | | 71 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:619525 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W | | | | 110 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | SMARCA2 CL E G H | 6595 | 11098 | ORPHA:2728 | Blepharophimosis-intellectual disability syndrome, Ohdo type | HP:0040281 - Very frequent | | | 146 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | SMARCD2 CL E G H | 6603 | 11107 | OMIM:617475 | SPECIFIC GRANULE DEFICIENCY 2; SGD2 | | | | 3 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | SMG9 CL E G H | 56006 | 25763 | OMIM:619995 | | | | | 2 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | SPAG1 CL E G H | 6674 | 11212 | OMIM:615505 | Ciliary dyskinesia, primary, 28 | . | | | 45 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | SPAG1 CL E G H | 6674 | 11212 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 45 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | SPAG1 CL E G H | 6674 | 11212 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 45 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | SPEF2 CL E G H | 79925 | 26293 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 15 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | SPEF2 CL E G H | 79925 | 26293 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 15 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | SRY CL E G H | 6736 | 11311 | ORPHA:1772 | 45,X/46,XY mixed gonadal dysgenesis | HP:0040283 - Occasional | | | 23 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | STAT3 CL E G H | 6774 | 11364 | ORPHA:2314 | Autosomal dominant hyper-IgE syndrome | HP:0040282 - Frequent | | | 110 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | STK36 CL E G H | 27148 | 17209 | OMIM:619436 | CILIARY DYSKINESIA, PRIMARY, 46; CILD46 | | | | 3 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | STK36 CL E G H | 27148 | 17209 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 3 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | STK36 CL E G H | 27148 | 17209 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 3 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | SULT2B1 CL E G H | 6820 | 11459 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 4 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | TAF1 CL E G H | 6872 | 11535 | ORPHA:480907 | X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome | HP:0040282 - Frequent | | | 21 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | TAOK1 CL E G H | 57551 | 29259 | OMIM:619575 | DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB | | | | | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | TAP1 CL E G H | 6890 | 43 | OMIM:604571 | Bare lymphocyte syndrome, type I | . | | | 5 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | TAP2 CL E G H | 6891 | 44 | OMIM:604571 | Bare lymphocyte syndrome, type I | . | | | 17 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | TAPBP CL E G H | 6892 | 11566 | OMIM:604571 | Bare lymphocyte syndrome, type I | . | | | 3 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 32 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | | | | 32 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | TBX4 CL E G H | 9496 | 11603 | ORPHA:261279 | 17q23.1q23.2 microdeletion syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | TCF3 CL E G H | 6929 | 11633 | OMIM:616941 | Agammaglobulinemia 8, autosomal dominant | | | | 2 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | TCF3 CL E G H | 6929 | 11633 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 2 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | TGDS CL E G H | 23483 | 20324 | ORPHA:1388 | Catel-Manzke syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | TGM1 CL E G H | 7051 | 11777 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 98 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | | | | 6 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | TNFRSF13B CL E G H | 23495 | 18153 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 32 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | TNFRSF13B CL E G H | 23495 | 18153 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 32 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | TNFRSF13C CL E G H | 115650 | 17755 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 12 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | TNFRSF13C CL E G H | 115650 | 17755 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 12 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | TNFSF12 CL E G H | 8742 | 11927 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | TNRC6B CL E G H | 23112 | 29190 | OMIM:619243 | GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA | | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | TP63 CL E G H | 8626 | 15979 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | 140 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | TP63 CL E G H | 8626 | 15979 | ORPHA:199302 | Isolated cleft lip | HP:0040282 - Frequent | | | 140 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | . | | | 140 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | TP73 CL E G H | 7161 | 12003 | OMIM:619466 | CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY; CILD47 | | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | TPP2 CL E G H | 7174 | 12016 | ORPHA:444463 | Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | TPP2 CL E G H | 7174 | 12016 | OMIM:619220 | IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78 | | | | | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | TTC12 CL E G H | 54970 | 23700 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | TTC12 CL E G H | 54970 | 23700 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | UBB CL E G H | 7314 | 12463 | ORPHA:99772 | Cleft velum | HP:0040283 - Occasional | | | | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | UNC119 CL E G H | 9094 | 12565 | OMIM:615518 | IMMUNODEFICIENCY 13; IMD13 | | | | 30 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | USB1 CL E G H | 79650 | 25792 | OMIM:604173 | Poikiloderma with neutropenia | | | | 8 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | WDR26 CL E G H | 80232 | 21208 | ORPHA:513456 | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | WDR26 CL E G H | 80232 | 21208 | OMIM:617616 | Skraban-Deardorff syndrome | . | | | 8 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | ZEB2 CL E G H | 9839 | 14881 | OMIM:235730 | Mowat-Wilson syndrome | | | | 362 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040282 - Frequent | | | 362 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | HP:0040282 - Frequent | | | 362 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | ZMYND10 CL E G H | 51364 | 19412 | OMIM:615444 | Ciliary dyskinesia, primary, 22 | . | | | 20 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | ZMYND10 CL E G H | 51364 | 19412 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 20 | | |
HP:0000388 | HP:0000389 | Chronic otitis media | 1 | ZMYND10 CL E G H | 51364 | 19412 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 20 | | |
HP:0000388 | HP:0000403 | Recurrent otitis media | 1 | ZNF341 CL E G H | 84905 | 15992 | OMIM:618282 | Hyper-Ige recurrent infection syndrome 3, autosomal recessive | . | | | 1 | | |