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:0000405 | HP:0000405 | Conductive hearing impairment | 0 | ABCA4 CL E G H | 24 | 34 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 826 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | ABCC6 CL E G H | 368 | 57 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040283 - Occasional | | | 415 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | ACVR1 CL E G H | 90 | 171 | OMIM:135100 | Fibrodysplasia ossificans progressiva | . | | | 49 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | ADAMTS3 CL E G H | 9508 | 219 | ORPHA:2136 | Hennekam syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | AFF4 CL E G H | 27125 | 17869 | ORPHA:444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | AGBL5 CL E G H | 60509 | 26147 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 2 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | AHI1 CL E G H | 54806 | 21575 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 175 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | AHR CL E G H | 196 | 348 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 2 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | ALX1 CL E G H | 8092 | 1494 | ORPHA:306542 | Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | ALX3 CL E G H | 257 | 449 | OMIM:136760 | Frontonasal dysplasia 1 | . | | | 9 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | ALX3 CL E G H | 257 | 449 | ORPHA:391474 | Frontorhiny | | | | 9 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | . | | | 34 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | AMER1 CL E G H | 139285 | 26837 | ORPHA:2780 | Osteopathia striata-cranial sclerosis syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | AMMECR1 CL E G H | 9949 | 467 | OMIM:300990 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | | | | 2 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | ANKH CL E G H | 56172 | 15492 | ORPHA:1522 | Craniometaphyseal dysplasia | HP:0040283 - Occasional | | | 164 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | ANKH CL E G H | 56172 | 15492 | OMIM:123000 | Craniometaphyseal dysplasia, autosomal dominant | | | | 164 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | ANKRD11 CL E G H | 29123 | 21316 | ORPHA:2332 | KBG syndrome | | | | 102 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 1 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | ARHGAP29 CL E G H | 9411 | 30207 | ORPHA:199306 | Cleft lip/palate | HP:0040283 - Occasional | | | 6 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | ARHGEF18 CL E G H | 23370 | 17090 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 6 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | ARID2 CL E G H | 196528 | 18037 | OMIM:617808 | Coffin-siris syndrome 6 | | | | 25 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | ARL2BP CL E G H | 23568 | 17146 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 3 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | ARL3 CL E G H | 403 | 694 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 1 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | ARL6 CL E G H | 84100 | 13210 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 29 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | | | | 38 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | BBS1 CL E G H | 582 | 966 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 114 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | BBS2 CL E G H | 583 | 967 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 97 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | BEST1 CL E G H | 7439 | 12703 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 182 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:617877 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | . | | | 13 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | BMP4 CL E G H | 652 | 1071 | ORPHA:199306 | Cleft lip/palate | HP:0040283 - Occasional | | | 38 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | BPTF CL E G H | 2186 | 3581 | ORPHA:529962 | 17q24.2 microdeletion syndrome | | | | 2 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CA2 CL E G H | 760 | 1373 | ORPHA:2785 | Osteopetrosis with renal tubular acidosis | | | | 29 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CA4 CL E G H | 762 | 1375 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 23 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | . | | | 147 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CCBE1 CL E G H | 147372 | 29426 | ORPHA:2136 | Hennekam syndrome | HP:0040283 - Occasional | | | 147 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CCDC103 CL E G H | 388389 | 32700 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 36 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CCDC39 CL E G H | 339829 | 25244 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 126 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CCDC40 CL E G H | 55036 | 26090 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 182 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CCDC65 CL E G H | 85478 | 29937 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 23 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CCNO CL E G H | 10309 | 18576 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 23 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CDCA7 CL E G H | 83879 | 14628 | OMIM:616910 | Immunodeficiency-Centromeric instability-facial anomalies syndrome 3 | | | | 4 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CDH1 CL E G H | 999 | 1748 | ORPHA:1997 | Blepharo-cheilo-odontic syndrome | HP:0040282 - Frequent | | | 1003 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CDH1 CL E G H | 999 | 1748 | ORPHA:199306 | Cleft lip/palate | HP:0040283 - Occasional | | | 1003 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CDH11 CL E G H | 1009 | 1750 | ORPHA:1299 | Branchioskeletogenital syndrome | | | | 2 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CDHR1 CL E G H | 92211 | 14550 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 147 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CDK5RAP2 CL E G H | 55755 | 18672 | OMIM:604804 | Microcephaly 3, primary, autosomal recessive | | | | 181 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CERKL CL E G H | 375298 | 21699 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 71 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CFAP221 CL E G H | 200373 | 33720 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CFAP298 CL E G H | 56683 | 1301 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CFAP300 CL E G H | 85016 | 28188 | OMIM:618063 | Ciliary dyskinesia, primary, 38 | HP:0040284 - Very rare | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CFAP300 CL E G H | 85016 | 28188 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CHRNG CL E G H | 1146 | 1967 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | . | | | 68 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CLRN1 CL E G H | 7401 | 12605 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 60 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CNGA1 CL E G H | 1259 | 2148 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 44 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CNGB1 CL E G H | 1258 | 2151 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 164 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CNOT1 CL E G H | 23019 | 7877 | OMIM:618500 | Holoprosencephaly 12 with or without pancreatic agenesis | . | | | 2 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CNOT3 CL E G H | 4849 | 7879 | OMIM:618672 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF | | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | COL11A2 CL E G H | 1302 | 2187 | OMIM:215150 | Otospondylomegaepiphyseal dysplasia | | | | 222 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:230851 | Cardiac-valvular Ehlers-Danlos syndrome | | | | 243 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:132450 | Epiphyseal dysplasia, multiple, with myopia and conductive deafness | . | | | 284 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:156550 | Kniest dysplasia | . | | | 284 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:108300 | Stickler syndrome, type I | | | | 284 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:277170 | Orofaciodigital syndrome VI | . | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CRB1 CL E G H | 23418 | 2343 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 156 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CREB3L1 CL E G H | 90993 | 18856 | OMIM:616229 | Osteogenesis imperfecta, type XVI | . | | | 4 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353281 | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | HP:0040283 - Occasional | | | 291 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | HP:0040283 - Occasional | | | 291 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CRX CL E G H | 1406 | 2383 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 158 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CTNND1 CL E G H | 1500 | 2515 | ORPHA:1997 | Blepharo-cheilo-odontic syndrome | HP:0040282 - Frequent | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | CTSK CL E G H | 1513 | 2536 | ORPHA:763 | Pycnodysostosis | | | | 39 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | DCHS1 CL E G H | 8642 | 13681 | ORPHA:314679 | Cerebrofacioarticular syndrome | HP:0040282 - Frequent | | | 27 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | DCHS1 CL E G H | 8642 | 13681 | OMIM:601390 | Van maldergem syndrome 1 | . | | | 27 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | DDR2 CL E G H | 4921 | 2731 | OMIM:618175 | WARBURG-CINOTTI SYNDROME; WRCN | | | | 45 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | DHDDS CL E G H | 79947 | 20603 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 47 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | DHODH CL E G H | 1723 | 2867 | ORPHA:246 | Postaxial acrofacial dysostosis | HP:0040282 - Frequent | | | 59 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | DHODH CL E G H | 1723 | 2867 | OMIM:263750 | Postaxial acrofacial dysostosis | . | | | 59 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | DHX38 CL E G H | 9785 | 17211 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 1 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | DLG1 CL E G H | 1739 | 2900 | ORPHA:199306 | Cleft lip/palate | HP:0040283 - Occasional | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | DLST CL E G H | 1743 | 2911 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | DLX4 CL E G H | 1748 | 2917 | ORPHA:199306 | Cleft lip/palate | HP:0040283 - Occasional | | | 1 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | DNAAF1 CL E G H | 123872 | 30539 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 116 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | DNAAF11 CL E G H | 23639 | 16725 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | DNAAF2 CL E G H | 55172 | 20188 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 78 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | DNAAF3 CL E G H | 352909 | 30492 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 63 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | DNAAF4 CL E G H | 161582 | 21493 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 27 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | DNAAF5 CL E G H | 54919 | 26013 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 62 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | DNAAF6 CL E G H | 139212 | 28570 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | DNAH1 CL E G H | 25981 | 2940 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 21 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | DNAH11 CL E G H | 8701 | 2942 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 542 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | DNAH5 CL E G H | 1767 | 2950 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 527 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | DNAH9 CL E G H | 1770 | 2953 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 18 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | DNAI1 CL E G H | 27019 | 2954 | OMIM:244400 | Ciliary dyskinesia, primary, 1 | . | | | 73 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | DNAI1 CL E G H | 27019 | 2954 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 73 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | DNAI2 CL E G H | 64446 | 18744 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 104 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | DNAJB13 CL E G H | 374407 | 30718 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 2 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | DNAL1 CL E G H | 83544 | 23247 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 167 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | DNMT3A CL E G H | 1788 | 2978 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040283 - Occasional | | | 44 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | DRC1 CL E G H | 92749 | 24245 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 44 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | DVL1 CL E G H | 1855 | 3084 | OMIM:616331 | Robinow syndrome, autosomal dominant 2 | HP:0040283 - Occasional | | | 14 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | EDN1 CL E G H | 1906 | 3176 | OMIM:615706 | Auriculocondylar syndrome 3 | | | | 6 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | EDNRA CL E G H | 1909 | 3179 | OMIM:616367 | Mandibulofacial dysostosis with alopecia | . | | | 3 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | EFTUD2 CL E G H | 9343 | 30858 | OMIM:610536 | Mandibulofacial dysostosis, Guion-Almeida type | . | | | 48 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | EFTUD2 CL E G H | 9343 | 30858 | ORPHA:79113 | Mandibulofacial dysostosis-microcephaly syndrome | HP:0040283 - Occasional | | | 48 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | EIF5A CL E G H | 1984 | 3300 | OMIM:619376 | FAUNDES-BANKA SYNDROME; FABAS | | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | ELMO2 CL E G H | 63916 | 17233 | ORPHA:3019 | Ramon syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | ELMOD3 CL E G H | 84173 | 26158 | OMIM:615429 | DEAFNESS, AUTOSOMAL RECESSIVE 88; DFNB88 | | | | 1 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040283 - Occasional | | | 151 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | HP:0040283 - Occasional | | | 250 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | EPAS1 CL E G H | 2034 | 3374 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040283 - Occasional | | | 112 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040283 - Occasional | | | 199 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040283 - Occasional | | | 55 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | ERF CL E G H | 2077 | 3444 | ORPHA:207 | Crouzon disease | HP:0040282 - Frequent | | | 12 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | EXT1 CL E G H | 2131 | 3512 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | HP:0040283 - Occasional | | | 96 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | EYA1 CL E G H | 2138 | 3519 | ORPHA:52429 | Branchiootic syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | EYA1 CL E G H | 2138 | 3519 | OMIM:602588 | Branchiootic syndrome 1 | | | | 135 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | EYA1 CL E G H | 2138 | 3519 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 135 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | EYA1 CL E G H | 2138 | 3519 | ORPHA:2792 | Otofaciocervical syndrome | HP:0040281 - Very frequent | | | 135 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | EYA1 CL E G H | 2138 | 3519 | OMIM:166780 | Otofaciocervical syndrome | . | | | 135 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | EYS CL E G H | 346007 | 21555 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 209 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | FAM149B1 CL E G H | 317662 | 29162 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | FAM161A CL E G H | 84140 | 25808 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 56 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | FAM20C CL E G H | 56975 | 22140 | OMIM:259775 | Raine syndrome | | | | 35 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | FANCF CL E G H | 2188 | 3587 | OMIM:603467 | FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF | | | | 87 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | FANCI CL E G H | 55215 | 25568 | OMIM:609053 | Fanconi anemia, complementation group I | . | | | 157 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | FAT4 CL E G H | 79633 | 23109 | ORPHA:314679 | Cerebrofacioarticular syndrome | HP:0040282 - Frequent | | | 114 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | FAT4 CL E G H | 79633 | 23109 | ORPHA:2136 | Hennekam syndrome | HP:0040283 - Occasional | | | 114 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | FAT4 CL E G H | 79633 | 23109 | OMIM:615546 | Van maldergem syndrome 2 | . | | | 114 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:2462 | Shprintzen-Goldberg syndrome | HP:0040283 - Occasional | | | 1361 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | FBXW7 CL E G H | 55294 | 16712 | OMIM:620012 | | | | | 22 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 17 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | FGF9 CL E G H | 2254 | 3687 | ORPHA:3237 | Multiple synostoses syndrome | HP:0040281 - Very frequent | | | 75 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:87 | Apert syndrome | HP:0040281 - Very frequent | | | 175 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:207 | Crouzon disease | HP:0040282 - Frequent | | | 175 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:123500 | Crouzon syndrome | . | | | 175 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 175 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:100800 | ACHONDROPLASIA | . | | | 145 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:93262 | Crouzon syndrome-acanthosis nigricans syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 145 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | FH CL E G H | 2271 | 3700 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 301 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | FKBP14 CL E G H | 55033 | 18625 | OMIM:614557 | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | HP:0040284 - Very rare | | | 13 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040282 - Frequent | | | 493 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:311300 | Otopalatodigital syndrome, type I | . | | | 493 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:304120 | Otopalatodigital syndrome, type II | . | | | 493 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | FLNB CL E G H | 2317 | 3755 | ORPHA:503 | Larsen syndrome | HP:0040283 - Occasional | | | 233 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:150250 | Larsen syndrome | . | | | 233 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:272460 | Spondylocarpotarsal synostosis syndrome | | | | 233 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | FOXJ1 CL E G H | 2302 | 3816 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | FRAS1 CL E G H | 80144 | 19185 | ORPHA:2052 | Fraser syndrome | HP:0040283 - Occasional | | | 353 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | FRAS1 CL E G H | 80144 | 19185 | OMIM:219000 | Fraser syndrome | . | | | 353 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | FREM2 CL E G H | 341640 | 25396 | ORPHA:2052 | Fraser syndrome | HP:0040283 - Occasional | | | 263 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | FSCN2 CL E G H | 25794 | 3960 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 26 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | GALNT2 CL E G H | 2590 | 4124 | OMIM:618885 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T | | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | GAS2L2 CL E G H | 246176 | 24846 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 1 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | GAS8 CL E G H | 2622 | 4166 | OMIM:616726 | Ciliary dyskinesia, primary, 33 | | | | 9 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | GAS8 CL E G H | 2622 | 4166 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 9 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | GATA1 CL E G H | 2623 | 4170 | OMIM:190685 | Down syndrometrisomy 21, included | . | | | 29 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:3237 | Multiple synostoses syndrome | HP:0040281 - Very frequent | | | 52 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | GDF6 CL E G H | 392255 | 4221 | OMIM:118100 | Klippel-Feil syndrome 1, autosomal dominant | | | | 64 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:1522 | Craniometaphyseal dysplasia | HP:0040283 - Occasional | | | 68 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:218400 | Craniometaphyseal dysplasia, autosomal recessive | | | | 68 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:164200 | Oculodentodigital dysplasia | . | | | 68 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | HP:0040282 - Frequent | | | 68 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:304400 | Deafness, X-linked 2 | . | | | 199 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:2698 | Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome | | | | 199 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | GJB6 CL E G H | 10804 | 4288 | OMIM:304400 | Deafness, X-linked 2 | . | | | 56 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | GMNN CL E G H | 51053 | 17493 | OMIM:616835 | Meier-Gorlin syndrome 6 | | | | 3 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | HP:0040282 - Frequent | | | 240 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | GRHL3 CL E G H | 57822 | 25839 | ORPHA:99772 | Cleft velum | HP:0040283 - Occasional | | | 12 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | GRIP1 CL E G H | 23426 | 18708 | ORPHA:2052 | Fraser syndrome | HP:0040283 - Occasional | | | 80 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | GSC CL E G H | 145258 | 4612 | OMIM:602471 | Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities | . | | | 3 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | GUCA1B CL E G H | 2979 | 4679 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 36 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | HAX1 CL E G H | 10456 | 16915 | OMIM:610738 | NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3 | | | | 32 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | HDAC4 CL E G H | 9759 | 14063 | ORPHA:1001 | 2q37 microdeletion syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | HGSNAT CL E G H | 138050 | 26527 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 86 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 4 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 2 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | HP:0040283 - Occasional | | | 8 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | HP:0040283 - Occasional | | | 8 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | HOXA2 CL E G H | 3199 | 5103 | OMIM:612290 | MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE | | | | 21 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 345 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | HYDIN CL E G H | 54768 | 19368 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 21 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | IDH3A CL E G H | 3419 | 5384 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | IDH3B CL E G H | 3420 | 5385 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 30 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217093 | Mucopolysaccharidosis type 2, attenuated form | HP:0040283 - Occasional | | | 86 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217085 | Mucopolysaccharidosis type 2, severe form | HP:0040283 - Occasional | | | 86 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 148 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | IFT172 CL E G H | 26160 | 30391 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 48 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | IFT88 CL E G H | 8100 | 20606 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 3 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | IGBP1 CL E G H | 3476 | 5461 | OMIM:300472 | CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA | | | | 5 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | IL11RA CL E G H | 3590 | 5967 | OMIM:614188 | Craniosynostosis and dental anomalies | | | | 8 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | IMPDH1 CL E G H | 3614 | 6052 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 52 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | IMPG1 CL E G H | 3617 | 6055 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 4 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | IMPG2 CL E G H | 50939 | 18362 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 120 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | 119 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:199306 | Cleft lip/palate | HP:0040283 - Occasional | | | 99 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:199302 | Isolated cleft lip | HP:0040284 - Very rare | | | 99 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | KDM6A CL E G H | 7403 | 12637 | ORPHA:2322 | Kabuki syndrome | HP:0040282 - Frequent | | | 53 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | KIAA0753 CL E G H | 9851 | 29110 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 4 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | KIAA1549 CL E G H | 57670 | 22219 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | KIF1B CL E G H | 23095 | 16636 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 202 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 167 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | KIZ CL E G H | 55857 | 15865 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 3 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | KLHL7 CL E G H | 55975 | 15646 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 42 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | KMT2D CL E G H | 8085 | 7133 | ORPHA:2322 | Kabuki syndrome | HP:0040282 - Frequent | | | 660 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | LONP1 CL E G H | 9361 | 9479 | OMIM:600373 | CODAS syndrome | | | | 8 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 62 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | LRP5 CL E G H | 4041 | 6697 | OMIM:607634 | Osteopetrosis, autosomal dominant 1 | . | | | 125 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | LRRC56 CL E G H | 115399 | 25430 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | MAK CL E G H | 4117 | 6816 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 53 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309288 | Alpha-mannosidosis, adult form | | | | 136 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | | | | 136 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | MAP3K7 CL E G H | 6885 | 6859 | ORPHA:3238 | Cardiospondylocarpofacial syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:157800 | Cardiospondylocarpofacial syndrome | . | | | 11 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | MAP3K7 CL E G H | 6885 | 6859 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040282 - Frequent | | | 11 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:617137 | Frontometaphyseal dysplasia 2 | . | | | 11 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | MASP1 CL E G H | 5648 | 6901 | OMIM:257920 | 3mc syndrome 1 | . | | | 21 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | MAX CL E G H | 4149 | 6913 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 84 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | MCIDAS CL E G H | 345643 | 40050 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 13 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | MDH2 CL E G H | 4191 | 6971 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 4 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | MEOX1 CL E G H | 4222 | 7013 | OMIM:214300 | Klippel-Feil syndrome, autosomal recessive | . | | | 5 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | MERTK CL E G H | 10461 | 7027 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 75 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | MSX1 CL E G H | 4487 | 7391 | ORPHA:199306 | Cleft lip/palate | HP:0040283 - Occasional | | | 12 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | MSX1 CL E G H | 4487 | 7391 | ORPHA:199302 | Isolated cleft lip | HP:0040284 - Very rare | | | 12 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | MYCN CL E G H | 4613 | 7559 | ORPHA:391641 | Feingold syndrome type 1 | HP:0040283 - Occasional | | | 35 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | HP:0040283 - Occasional | | | 166 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:199306 | Cleft lip/palate | HP:0040283 - Occasional | | | 4 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:199302 | Isolated cleft lip | HP:0040284 - Very rare | | | 4 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | NEK1 CL E G H | 4750 | 7744 | ORPHA:2751 | Orofaciodigital syndrome type 2 | HP:0040283 - Occasional | | | 101 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | NEK10 CL E G H | 152110 | 18592 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | NEK2 CL E G H | 4751 | 7745 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 5 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 1952 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | NFIX CL E G H | 4784 | 7788 | ORPHA:561 | Marshall-Smith syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | | | | 40 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 494 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | . | | | 494 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | NME8 CL E G H | 51314 | 16473 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 50 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | NOG CL E G H | 9241 | 7866 | ORPHA:3237 | Multiple synostoses syndrome | HP:0040281 - Very frequent | | | 22 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | NOG CL E G H | 9241 | 7866 | OMIM:184460 | Stapes ankylosis with broad thumb and toes | HP:0040281 - Very frequent | | | 22 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | NOG CL E G H | 9241 | 7866 | OMIM:185800 | Symphalangism, proximal, 1A | | | | 22 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | NOTCH2 CL E G H | 4853 | 7882 | OMIM:102500 | Hajdu-Cheney syndrome | . | | | 138 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | NOTCH2NLC CL E G H | 100996717 | 53924 | OMIM:619473 | OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3 | | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:2789 | Lateral meningocele syndrome | HP:0040281 - Very frequent | | | 144 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | NOTCH3 CL E G H | 4854 | 7883 | OMIM:130720 | Lateral meningocele syndrome | . | | | 144 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | NR2E3 CL E G H | 10002 | 7974 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 58 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | NRL CL E G H | 4901 | 8002 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 30 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 544 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | NSD1 CL E G H | 64324 | 14234 | OMIM:117550 | Sotos syndrome 1 | | | | 544 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | ODAD1 CL E G H | 93233 | 26560 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | ODAD2 CL E G H | 55130 | 25583 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | ODAD3 CL E G H | 115948 | 28303 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | ODAD4 CL E G H | 83538 | 25280 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 201 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 201 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 201 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | OSTM1 CL E G H | 28962 | 21652 | ORPHA:85179 | Infantile osteopetrosis with neuroaxonal dysplasia | HP:0040283 - Occasional | | | 73 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | P4HA2 CL E G H | 8974 | 8547 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 3 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | PAX1 CL E G H | 5075 | 8615 | ORPHA:2792 | Otofaciocervical syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | PAX1 CL E G H | 5075 | 8615 | OMIM:615560 | Otofaciocervical syndrome 2 | | | | 3 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | PCARE CL E G H | 388939 | 34383 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | PCGF2 CL E G H | 7703 | 12929 | OMIM:618371 | Turnpenny-Fry syndrome | . | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | PDE6A CL E G H | 5145 | 8785 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 116 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | PDE6B CL E G H | 5158 | 8786 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 126 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | PDE6D CL E G H | 5147 | 8788 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 1 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | PDE6G CL E G H | 5148 | 8789 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 18 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | PDGFRA CL E G H | 5156 | 8803 | ORPHA:199306 | Cleft lip/palate | HP:0040283 - Occasional | | | 337 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | PGM3 CL E G H | 5238 | 8907 | OMIM:615816 | Immunodeficiency 23 | . | | | 15 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040283 - Occasional | | | 15 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | . | | | 36 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | PIK3C2A CL E G H | 5286 | 8971 | ORPHA:557003 | Oculocerebrodental syndrome | HP:0040283 - Occasional | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | POLR1B CL E G H | 84172 | 20454 | OMIM:618939 | TREACHER COLLINS SYNDROME 4; TCS4 | | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | POLR1B CL E G H | 84172 | 20454 | ORPHA:861 | Treacher-Collins syndrome | HP:0040282 - Frequent | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | POLR1C CL E G H | 9533 | 20194 | OMIM:248390 | Treacher collins syndrome 3 | . | | | 38 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | POLR1C CL E G H | 9533 | 20194 | ORPHA:861 | Treacher-Collins syndrome | HP:0040282 - Frequent | | | 38 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | POLR1D CL E G H | 51082 | 20422 | OMIM:613717 | Treacher collins syndrome 2 | . | | | 31 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | POLR1D CL E G H | 51082 | 20422 | ORPHA:861 | Treacher-Collins syndrome | HP:0040282 - Frequent | | | 31 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 180 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | POR CL E G H | 5447 | 9208 | OMIM:201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | . | | | 76 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | HP:0040283 - Occasional | | | 76 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | | | | 20 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | POU3F4 CL E G H | 5456 | 9217 | OMIM:304400 | Deafness, X-linked 2 | . | | | 40 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | POU3F4 CL E G H | 5456 | 9217 | ORPHA:1435 | Xq21 microdeletion syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | PRCD CL E G H | 768206 | 32528 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 39 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 148 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | PRDM5 CL E G H | 11107 | 9349 | ORPHA:90354 | Brittle cornea syndrome | HP:0040282 - Frequent | | | 58 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | PROM1 CL E G H | 8842 | 9454 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 110 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | PRPF3 CL E G H | 9129 | 17348 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 28 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | PRPF31 CL E G H | 26121 | 15446 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 70 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | PRPF4 CL E G H | 9128 | 17349 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 2 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | PRPF6 CL E G H | 24148 | 15860 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 51 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | PRPF8 CL E G H | 10594 | 17340 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 94 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 159 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | PRRX1 CL E G H | 5396 | 9142 | OMIM:202650 | Agnathia-Otocephaly complex | . | | | 4 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | PSMD12 CL E G H | 5718 | 9557 | ORPHA:529962 | 17q24.2 microdeletion syndrome | | | | 4 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 3 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 25 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | RBP3 CL E G H | 5949 | 9921 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 108 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | RDH12 CL E G H | 145226 | 19977 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 45 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | RECQL4 CL E G H | 9401 | 9949 | OMIM:218600 | Baller-Gerold syndrome | . | | | 445 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:1225 | Baller-Gerold syndrome | HP:0040283 - Occasional | | | 445 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | REEP6 CL E G H | 92840 | 30078 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 5 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | RET CL E G H | 5979 | 9967 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 572 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | RET CL E G H | 5979 | 9967 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040283 - Occasional | | | 572 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | RGR CL E G H | 5995 | 9990 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 28 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | RHO CL E G H | 6010 | 10012 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 107 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 47 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | ROM1 CL E G H | 6094 | 10254 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 38 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | RP1 CL E G H | 6101 | 10263 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 111 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | RP1L1 CL E G H | 94137 | 15946 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 284 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | RP2 CL E G H | 6102 | 10274 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 45 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | RP9 CL E G H | 6100 | 10288 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 14 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 129 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 200 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 200 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | RPS23 CL E G H | 6228 | 10410 | OMIM:617412 | BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD | | | | 2 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | RPS26 CL E G H | 6231 | 10414 | OMIM:613309 | Diamond-blackfan anemia 10 | HP:0040283 - Occasional | | | 20 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | RPS28 CL E G H | 6234 | 10418 | OMIM:606164 | Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | | | | 1 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | RSPH1 CL E G H | 89765 | 12371 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 31 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | RSPH3 CL E G H | 83861 | 21054 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 5 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | RSPH4A CL E G H | 345895 | 21558 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 58 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | RSPH9 CL E G H | 221421 | 21057 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 20 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SAG CL E G H | 6295 | 10521 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 32 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | HP:0040282 - Frequent | | | 86 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SC5D CL E G H | 6309 | 10547 | OMIM:607330 | LATHOSTEROLOSIS | | | | 80 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SCAPER CL E G H | 49855 | 13081 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 304 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SDHAF2 CL E G H | 54949 | 26034 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 55 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 237 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040283 - Occasional | | | 237 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 147 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 129 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SDHD CL E G H | 6392 | 10683 | OMIM:168000 | Paragangliomas 1 | . | | | 129 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040283 - Occasional | | | 129 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SEMA4A CL E G H | 64218 | 10729 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 48 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 60 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SF3B2 CL E G H | 10992 | 10769 | OMIM:164210 | Hemifacial microsomia | . | | | 2 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | . | | | 49 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SGMS2 CL E G H | 166929 | 28395 | OMIM:126550 | Calvarial doughnut lesions with bone fragility | | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:261197 | Proximal 16p11.2 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SIX1 CL E G H | 6495 | 10887 | ORPHA:52429 | Branchiootic syndrome | HP:0040282 - Frequent | | | 50 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SIX1 CL E G H | 6495 | 10887 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 50 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SIX1 CL E G H | 6495 | 10887 | OMIM:605192 | Deafness, autosomal dominant 23 | | | | 50 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SKI CL E G H | 6497 | 10896 | OMIM:182212 | Shprintzen-Goldberg craniosynostosis syndrome | | | | 150 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:2462 | Shprintzen-Goldberg syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SLC25A11 CL E G H | 8402 | 10981 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SLC25A24 CL E G H | 29957 | 20662 | ORPHA:2095 | Gorlin-Chaudhry-Moss syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | HP:0040283 - Occasional | | | 71 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SLC7A14 CL E G H | 57709 | 29326 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 4 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SLITRK6 CL E G H | 84189 | 23503 | OMIM:221200 | Deafness and myopia | . | | | 4 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 91 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SMCHD1 CL E G H | 23347 | 29090 | OMIM:603457 | Bosma arhinia microphthalmia syndrome | | | | 174 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SNRNP200 CL E G H | 23020 | 30859 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 83 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SNRPB CL E G H | 6628 | 11153 | OMIM:117650 | Cerebrocostomandibular syndrome | . | | | 6 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SNRPB CL E G H | 6628 | 11153 | ORPHA:1393 | Cerebrocostomandibular syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SOST CL E G H | 50964 | 13771 | ORPHA:1513 | Craniodiaphyseal dysplasia | HP:0040282 - Frequent | | | 26 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SPAG1 CL E G H | 6674 | 11212 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 45 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 48 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SPEF2 CL E G H | 79925 | 26293 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 15 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SPEN CL E G H | 23013 | 17575 | OMIM:619312 | RADIO-TARTAGLIA SYNDROME; RATARS | | | | 4 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | STAC3 CL E G H | 246329 | 28423 | OMIM:255995 | Myopathy, congenital, bailey-bloch | . | | | 14 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | STAC3 CL E G H | 246329 | 28423 | ORPHA:168572 | Native American myopathy | HP:0040283 - Occasional | | | 14 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | STK36 CL E G H | 27148 | 17209 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 3 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | 32 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | TBX22 CL E G H | 50945 | 11600 | ORPHA:921 | Abruzzo-Erickson syndrome | HP:0040283 - Occasional | | | 28 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | TCOF1 CL E G H | 6949 | 11654 | OMIM:154500 | Treacher collins-franceschetti syndrome | | | | 140 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | TCOF1 CL E G H | 6949 | 11654 | ORPHA:861 | Treacher-Collins syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | HP:0040281 - Very frequent | | | 31 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 31 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | TELO2 CL E G H | 9894 | 29099 | ORPHA:488642 | TELO2-related intellectual disability-neurodevelopmental disorder | | | | 12 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | TFAP2A CL E G H | 7020 | 11742 | ORPHA:1297 | Branchio-oculo-facial syndrome | HP:0040281 - Very frequent | | | 12 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | . | | | 12 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | TMEM127 CL E G H | 55654 | 26038 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 131 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 45 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:602152 | Rhyns syndrome | . | | | 166 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | TNFRSF11A CL E G H | 8792 | 11908 | OMIM:174810 | Familial expansile osteolysis | . | | | 72 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | TNFRSF11A CL E G H | 8792 | 11908 | OMIM:602080 | Paget disease of bone 2, early-onset | | | | 72 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | TOPORS CL E G H | 10210 | 21653 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 61 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | TOPORS CL E G H | 10210 | 21653 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 61 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:106260 | Ankyloblepharon-Ectodermal defects-cleft lip/palate | . | | | 140 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:199306 | Cleft lip/palate | HP:0040283 - Occasional | | | 140 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:199302 | Isolated cleft lip | HP:0040284 - Very rare | | | 140 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | TRPS1 CL E G H | 7227 | 12340 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | HP:0040283 - Occasional | | | 171 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | TSHZ1 CL E G H | 10194 | 10669 | OMIM:607842 | Aural atresia, congenital | . | | | 111 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | TSR2 CL E G H | 90121 | 25455 | OMIM:300946 | Diamond-Blackfan anemia 14 with mandibulofacial dysostosis | . | | | 1 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | TTC12 CL E G H | 54970 | 23700 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | TTC8 CL E G H | 123016 | 20087 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 41 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | TUB CL E G H | 7275 | 12406 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 1 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | TULP1 CL E G H | 7287 | 12423 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 66 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | TWIST1 CL E G H | 7291 | 12428 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040283 - Occasional | | | 18 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | TXNL4A CL E G H | 10907 | 30551 | OMIM:608572 | Burn-Mckeown syndrome | . | | | 19 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | UBB CL E G H | 7314 | 12463 | ORPHA:99772 | Cleft velum | HP:0040283 - Occasional | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | USH2A CL E G H | 7399 | 12601 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 777 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | VARS1 CL E G H | 7407 | 12651 | OMIM:617802 | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | | | | | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 490 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040283 - Occasional | | | 490 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | ZBTB20 CL E G H | 26137 | 13503 | ORPHA:3042 | Intellectual disability-cataracts-calcified pinnae-myopathy syndrome | HP:0040281 - Very frequent | | | 17 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040281 - Very frequent | | | 83 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | ZMYND10 CL E G H | 51364 | 19412 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 20 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | ZNF408 CL E G H | 79797 | 20041 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 14 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | ZNF469 CL E G H | 84627 | 23216 | ORPHA:90354 | Brittle cornea syndrome | HP:0040282 - Frequent | | | 397 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | ZNF513 CL E G H | 130557 | 26498 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 27 | | |
HP:0000405 | HP:0000405 | Conductive hearing impairment | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0000405 | HP:0012716 | Moderate conductive hearing impairment | 1 | CL E G H | | | | | | | | | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | ABCC6 CL E G H | 368 | 57 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040283 - Occasional | | | 415 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | AFF4 CL E G H | 27125 | 17869 | ORPHA:444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000405 | HP:0008591 | Congenital conductive hearing impairment | 1 | ALX3 CL E G H | 257 | 449 | ORPHA:391474 | Frontorhiny | HP:0040282 - Frequent | | | 9 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | AMMECR1 CL E G H | 9949 | 467 | OMIM:300990 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | . | | | 2 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | ANKH CL E G H | 56172 | 15492 | OMIM:123000 | Craniometaphyseal dysplasia, autosomal dominant | . | | | 164 | | |
HP:0000405 | HP:0008513 | Bilateral conductive hearing impairment | 1 | ANKRD11 CL E G H | 29123 | 21316 | ORPHA:2332 | KBG syndrome | HP:0040282 - Frequent | | | 102 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | HP:0040282 - Frequent | | | | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 38 | | |
HP:0000405 | HP:0008607 | Progressive conductive hearing impairment | 1 | BPTF CL E G H | 2186 | 3581 | ORPHA:529962 | 17q24.2 microdeletion syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | CDH11 CL E G H | 1009 | 1750 | ORPHA:1299 | Branchioskeletogenital syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | CDK5RAP2 CL E G H | 55755 | 18672 | OMIM:604804 | Microcephaly 3, primary, autosomal recessive | | | | 181 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | . | | | 515 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | COL11A2 CL E G H | 1302 | 2187 | OMIM:215150 | Otospondylomegaepiphyseal dysplasia | . | | | 222 | | |
HP:0000405 | HP:0012717 | Severe conductive hearing impairment | 1 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:230851 | Cardiac-valvular Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 243 | | |
HP:0000405 | HP:0008598 | Mild conductive hearing impairment | 1 | CTSK CL E G H | 1513 | 2536 | ORPHA:763 | Pycnodysostosis | | | | 39 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | DVL1 CL E G H | 1855 | 3084 | OMIM:616331 | Robinow syndrome, autosomal dominant 2 | | | | 14 | | |
HP:0000405 | HP:0008513 | Bilateral conductive hearing impairment | 1 | EDN1 CL E G H | 1906 | 3176 | OMIM:615706 | Auriculocondylar syndrome 3 | HP:0040283 - Occasional | | | 6 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | ELMOD3 CL E G H | 84173 | 26158 | OMIM:615429 | DEAFNESS, AUTOSOMAL RECESSIVE 88; DFNB88 | | | | 1 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040283 - Occasional | | | 151 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | EYA1 CL E G H | 2138 | 3519 | OMIM:602588 | Branchiootic syndrome 1 | . | | | 135 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | EYA1 CL E G H | 2138 | 3519 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 135 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | EYA1 CL E G H | 2138 | 3519 | OMIM:166780 | Otofaciocervical syndrome | | | | 135 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | FAM20C CL E G H | 56975 | 22140 | OMIM:259775 | Raine syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | FBXW7 CL E G H | 55294 | 16712 | OMIM:620012 | | | | | 22 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 17 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 175 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 145 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | FKBP14 CL E G H | 55033 | 18625 | OMIM:614557 | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | HP:0040284 - Very rare | | | 13 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | FLNA CL E G H | 2316 | 3754 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040283 - Occasional | | | 493 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | FLNB CL E G H | 2317 | 3755 | OMIM:272460 | Spondylocarpotarsal synostosis syndrome | . | | | 233 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | GDF6 CL E G H | 392255 | 4221 | OMIM:118100 | Klippel-Feil syndrome 1, autosomal dominant | | | | 64 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | GJA1 CL E G H | 2697 | 4274 | OMIM:218400 | Craniometaphyseal dysplasia, autosomal recessive | . | | | 68 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | GJB2 CL E G H | 2706 | 4284 | OMIM:304400 | Deafness, X-linked 2 | | | | 199 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | GJB2 CL E G H | 2706 | 4284 | ORPHA:2698 | Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome | | | | 199 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | GJB6 CL E G H | 10804 | 4288 | OMIM:304400 | Deafness, X-linked 2 | | | | 56 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | HOXA2 CL E G H | 3199 | 5103 | OMIM:612290 | MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE | | | | 21 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | IGBP1 CL E G H | 3476 | 5461 | OMIM:300472 | CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA | | | | 5 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309288 | Alpha-mannosidosis, adult form | HP:0040283 - Occasional | | | 136 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | HP:0040282 - Frequent | | | 136 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | MAP3K7 CL E G H | 6885 | 6859 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040283 - Occasional | | | 11 | | |
HP:0000405 | HP:0008513 | Bilateral conductive hearing impairment | 1 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | | | | 40 | | |
HP:0000405 | HP:0008513 | Bilateral conductive hearing impairment | 1 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0000405 | HP:0008607 | Progressive conductive hearing impairment | 1 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | . | | | 22 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | PAX1 CL E G H | 5075 | 8615 | OMIM:615560 | Otofaciocervical syndrome 2 | | | | 3 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | POU3F4 CL E G H | 5456 | 9217 | OMIM:304400 | Deafness, X-linked 2 | | | | 40 | | |
HP:0000405 | HP:0008607 | Progressive conductive hearing impairment | 1 | PSMD12 CL E G H | 5718 | 9557 | ORPHA:529962 | 17q24.2 microdeletion syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | RPS28 CL E G H | 6234 | 10418 | OMIM:606164 | Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | . | | | 1 | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | SGMS2 CL E G H | 166929 | 28395 | OMIM:126550 | Calvarial doughnut lesions with bone fragility | HP:0040284 - Very rare | | | | | |
HP:0000405 | HP:0000410 | Mixed hearing impairment | 1 | SIX1 CL E G H | 6495 | 10887 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 50 | | |
HP:0000405 | HP:0008513 | Bilateral conductive hearing impairment | 1 | TELO2 CL E G H | 9894 | 29099 | ORPHA:488642 | TELO2-related intellectual disability-neurodevelopmental disorder | HP:0040283 - Occasional | | | 12 | | |
HP:0000405 | HP:0008513 | Bilateral conductive hearing impairment | 1 | TNFRSF11A CL E G H | 8792 | 11908 | OMIM:602080 | Paget disease of bone 2, early-onset | | | | 72 | | |
HP:0000405 | HP:0008513 | Bilateral conductive hearing impairment | 1 | VARS1 CL E G H | 7407 | 12651 | OMIM:617802 | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | | | | | | |
HP:0000405 | HP:0040119 | Unilateral conductive hearing impairment | 1 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |