Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 130 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | AGA CL E G H | 175 | 318 | ORPHA:93 | Aspartylglucosaminuria | HP:0040283 - Occasional | | | 76 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | AK2 CL E G H | 204 | 362 | ORPHA:33355 | Reticular dysgenesis | HP:0040281 - Very frequent | | | 19 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | ALOX12B CL E G H | 242 | 430 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 75 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | ALOXE3 CL E G H | 59344 | 13743 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 63 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | ANKRD11 CL E G H | 29123 | 21316 | ORPHA:261250 | 16q24.3 microdeletion syndrome | HP:0040283 - Occasional | | | 102 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | ASPRV1 CL E G H | 151516 | 26321 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 1 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | BLNK CL E G H | 29760 | 14211 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 4 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | BTK CL E G H | 695 | 1133 | ORPHA:47 | X-linked agammaglobulinemia | HP:0040281 - Very frequent | | | 109 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | CCDC103 CL E G H | 388389 | 32700 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 36 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | CCDC39 CL E G H | 339829 | 25244 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 126 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | CCDC40 CL E G H | 55036 | 26090 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 182 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | CCDC65 CL E G H | 85478 | 29937 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 23 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | CCNO CL E G H | 10309 | 18576 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 23 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | CD19 CL E G H | 930 | 1633 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 38 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | CD79A CL E G H | 973 | 1698 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 9 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | CD79B CL E G H | 974 | 1699 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 6 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | CD81 CL E G H | 975 | 1701 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | CFAP221 CL E G H | 200373 | 33720 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | CFAP298 CL E G H | 56683 | 1301 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | CFAP300 CL E G H | 85016 | 28188 | OMIM:618063 | Ciliary dyskinesia, primary, 38 | . | | | | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | CFAP300 CL E G H | 85016 | 28188 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | CFAP45 CL E G H | 25790 | 17229 | OMIM:619608 | HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11 | | | | | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | CR2 CL E G H | 1380 | 2336 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 10 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | 10 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | CYP4F22 CL E G H | 126410 | 26820 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 54 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | DNAAF1 CL E G H | 123872 | 30539 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 116 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | DNAAF11 CL E G H | 23639 | 16725 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | DNAAF2 CL E G H | 55172 | 20188 | OMIM:612518 | CILIARY DYSKINESIA, PRIMARY, 10; CILD10 | | | | 78 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | DNAAF2 CL E G H | 55172 | 20188 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 78 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | DNAAF3 CL E G H | 352909 | 30492 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 63 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | DNAAF4 CL E G H | 161582 | 21493 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 27 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | DNAAF5 CL E G H | 54919 | 26013 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 62 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | DNAAF6 CL E G H | 139212 | 28570 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | DNAH1 CL E G H | 25981 | 2940 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 21 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | DNAH11 CL E G H | 8701 | 2942 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 542 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | DNAH5 CL E G H | 1767 | 2950 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 527 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | DNAH9 CL E G H | 1770 | 2953 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 18 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | DNAI1 CL E G H | 27019 | 2954 | OMIM:244400 | Ciliary dyskinesia, primary, 1 | . | | | 73 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | DNAI1 CL E G H | 27019 | 2954 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 73 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | DNAI2 CL E G H | 64446 | 18744 | OMIM:612444 | CILIARY DYSKINESIA, PRIMARY, 9; CILD9 | | | | 104 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | DNAI2 CL E G H | 64446 | 18744 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 104 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | DNAJB13 CL E G H | 374407 | 30718 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 2 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | DNAL1 CL E G H | 83544 | 23247 | OMIM:614017 | CILIARY DYSKINESIA, PRIMARY, 16; CILD16 | | | | 167 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | DNAL1 CL E G H | 83544 | 23247 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 167 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | DOCK8 CL E G H | 81704 | 19191 | ORPHA:217390 | Combined immunodeficiency due to DOCK8 deficiency | HP:0040281 - Very frequent | | | 217 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | DRC1 CL E G H | 92749 | 24245 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 44 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 172 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101200 | Apert syndrome | . | | | 175 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:908 | Fragile X syndrome | HP:0040281 - Very frequent | | | 30 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | FOXJ1 CL E G H | 2302 | 3816 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | GAS2L2 CL E G H | 246176 | 24846 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 1 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | GAS8 CL E G H | 2622 | 4166 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 9 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | GATA2 CL E G H | 2624 | 4171 | ORPHA:3226 | Deafness-lymphedema-leukemia syndrome | HP:0040282 - Frequent | | | 137 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | HLA-DPA1 CL E G H | 3113 | 4938 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | 1 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | HYDIN CL E G H | 54768 | 19368 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 21 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | ICOS CL E G H | 29851 | 5351 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 32 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | IGHM CL E G H | 3507 | 5541 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 7 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | IGLL1 CL E G H | 3543 | 5870 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 3 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | IL11RA CL E G H | 3590 | 5967 | OMIM:614188 | Craniosynostosis and dental anomalies | | | | 8 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | 119 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 4 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:199302 | Isolated cleft lip | HP:0040282 - Frequent | | | 99 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | LIPN CL E G H | 643418 | 23452 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 1 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | LRRC56 CL E G H | 115399 | 25430 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | LRRC8A CL E G H | 56262 | 19027 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 3 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | MCIDAS CL E G H | 345643 | 40050 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 13 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | MS4A1 CL E G H | 931 | 7315 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | MSX1 CL E G H | 4487 | 7391 | ORPHA:199302 | Isolated cleft lip | HP:0040282 - Frequent | | | 12 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:199302 | Isolated cleft lip | HP:0040282 - Frequent | | | 4 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | NEK10 CL E G H | 152110 | 18592 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | NFKB1 CL E G H | 4790 | 7794 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 7 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 11 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | NIPAL4 CL E G H | 348938 | 28018 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 60 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | NME8 CL E G H | 51314 | 16473 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 50 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | HP:0040282 - Frequent | | | 544 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 118 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040283 - Occasional | | | 88 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | ODAD1 CL E G H | 93233 | 26560 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | ODAD2 CL E G H | 55130 | 25583 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | ODAD3 CL E G H | 115948 | 28303 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | ODAD4 CL E G H | 83538 | 25280 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | HP:0040283 - Occasional | | | 201 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 201 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040282 - Frequent | | | 15 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 43 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 10 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | PRTN3 CL E G H | 5657 | 9495 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | 3 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040282 - Frequent | | | 120 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 200 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | RSPH1 CL E G H | 89765 | 12371 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 31 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | RSPH3 CL E G H | 83861 | 21054 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 5 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | RSPH4A CL E G H | 345895 | 21558 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 58 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | RSPH9 CL E G H | 221421 | 21057 | OMIM:612650 | CILIARY DYSKINESIA, PRIMARY, 12; CILD12 | | | | 20 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | RSPH9 CL E G H | 221421 | 21057 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 20 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | HP:0040282 - Frequent | | | 90 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | SDR9C7 CL E G H | 121214 | 29958 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 2 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | SLC25A12 CL E G H | 8604 | 10982 | OMIM:612949 | Epileptic encephalopathy, early infantile, 39 | | | | 44 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | SPAG1 CL E G H | 6674 | 11212 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 45 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | SPEF2 CL E G H | 79925 | 26293 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 15 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:2314 | Autosomal dominant hyper-IgE syndrome | HP:0040282 - Frequent | | | 110 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | STK36 CL E G H | 27148 | 17209 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 3 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | SULT2B1 CL E G H | 6820 | 11459 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 4 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | |
HP:0000389 | HP:0000389 | Chronic 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 | HP:0040282 - Frequent | | | 21 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | TAP1 CL E G H | 6890 | 43 | OMIM:604571 | Bare lymphocyte syndrome, type I | . | | | 5 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | TAP2 CL E G H | 6891 | 44 | OMIM:604571 | Bare lymphocyte syndrome, type I | . | | | 17 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | TAPBP CL E G H | 6892 | 11566 | OMIM:604571 | Bare lymphocyte syndrome, type I | . | | | 3 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 32 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | TBX4 CL E G H | 9496 | 11603 | ORPHA:261279 | 17q23.1q23.2 microdeletion syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | TCF3 CL E G H | 6929 | 11633 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 2 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | TGDS CL E G H | 23483 | 20324 | ORPHA:1388 | Catel-Manzke syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | TGM1 CL E G H | 7051 | 11777 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 98 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | TNFRSF13B CL E G H | 23495 | 18153 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 32 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | TNFRSF13C CL E G H | 115650 | 17755 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 12 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | TNFSF12 CL E G H | 8742 | 11927 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:199302 | Isolated cleft lip | HP:0040282 - Frequent | | | 140 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | TP73 CL E G H | 7161 | 12003 | OMIM:619466 | CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY; CILD47 | | | | | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | TTC12 CL E G H | 54970 | 23700 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0000389 | HP:0000389 | Chronic otitis media | 0 | ZMYND10 CL E G H | 51364 | 19412 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 20 | | |