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:0001608 | HP:0001608 | Abnormality of the voice | 0 | ABAT CL E G H | 18 | 23 | OMIM:613163 | GABA-transaminase deficiency | | | | 120 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ACAN CL E G H | 176 | 319 | ORPHA:171866 | Spondyloepimetaphyseal dysplasia, aggrecan type | | | | 34 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ACAN CL E G H | 176 | 319 | OMIM:612813 | Spondyloepimetaphyseal dysplasia, Aggrecan type | | | | 34 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 96 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ACTA1 CL E G H | 58 | 129 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | | | | 96 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ACTB CL E G H | 60 | 132 | OMIM:607371 | Dystonia, juvenile-onset | | | | 72 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ADAMTSL2 CL E G H | 9719 | 14631 | OMIM:231050 | Geleophysic dysplasia 1 | | | | 72 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 116 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ADGRG1 CL E G H | 9289 | 4512 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | | | | 88 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ADH1C CL E G H | 126 | 251 | OMIM:168600 | Parkinson disease, late-onset | | | | 4 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | AFF2 CL E G H | 2334 | 3776 | ORPHA:100973 | FRAXE intellectual disability | | | | 59 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | AFF2 CL E G H | 2334 | 3776 | OMIM:309548 | Mental retardation, X-linked, associated with fragile site fraxe | | | | 59 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | AGA CL E G H | 175 | 318 | OMIM:208400 | ASPARTYLGLUCOSAMINURIA | | | | 76 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 127 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | | | | 95 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:616586 | Spastic paraplegia 9B, autosomal recessive | | | | 89 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ALDH4A1 CL E G H | 8659 | 406 | ORPHA:79101 | Hyperprolinemia type 2 | | | | 74 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ALPL CL E G H | 249 | 438 | OMIM:241500 | Hypophosphatasia, infantile | . | | | 126 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:606353 | Primary lateral sclerosis, juvenile | | | | 114 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | | | | 34 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ANOS1 CL E G H | 3730 | 6211 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | AOPEP CL E G H | 84909 | 1361 | OMIM:619565 | DYSTONIA 31; DYT31 | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | AP4E1 CL E G H | 23431 | 573 | OMIM:184450 | Stuttering, familial persistent, 1 | . | | | 48 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | AR CL E G H | 367 | 644 | ORPHA:481 | Kennedy disease | | | | 125 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | AR CL E G H | 367 | 644 | ORPHA:90797 | Partial androgen insensitivity syndrome | | | | 125 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ARHGAP29 CL E G H | 9411 | 30207 | ORPHA:199306 | Cleft lip/palate | | | | 6 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 1 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | | | | 78 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ASAH1 CL E G H | 427 | 735 | OMIM:228000 | Farber lipogranulomatosis | | | | 78 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ASPA CL E G H | 443 | 756 | ORPHA:314911 | Severe Canavan disease | | | | 48 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ATG7 CL E G H | 10533 | 16935 | OMIM:619422 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31 | | | | 1 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ATP1A3 CL E G H | 478 | 801 | OMIM:619606 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99 | | | | 150 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ATP5F1A CL E G H | 498 | 823 | OMIM:615228 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 4 | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ATP5MC3 CL E G H | 518 | 843 | OMIM:619681 | DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:93952 | X-linked intellectual disability, Hedera type | | | | 36 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:2834 | Wrinkly skin syndrome | | | | 140 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:278250 | Wrinkly skin syndrome | | | | 140 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | | | | 169 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:168600 | Parkinson disease, late-onset | | | | 11 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276238 | Machado-Joseph disease type 1 | | | | 14 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276241 | Machado-Joseph disease type 2 | | | | 14 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276244 | Machado-Joseph disease type 3 | | | | 14 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ATXN8OS CL E G H | 6315 | 10561 | OMIM:168600 | Parkinson disease, late-onset | | | | 1 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | B3GALNT2 CL E G H | 148789 | 28596 | ORPHA:588 | Muscle-eye-brain disease | HP:0040282 - Frequent | | | 43 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | B4GALNT1 CL E G H | 2583 | 4117 | ORPHA:101006 | Autosomal recessive spastic paraplegia type 26 | | | | 25 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | BAG3 CL E G H | 9531 | 939 | OMIM:612954 | Myopathy, myofibrillar, 6 | | | | 204 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | BIN1 CL E G H | 274 | 1052 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | | | | 99 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | BIN1 CL E G H | 274 | 1052 | OMIM:255200 | Myopathy, centronuclear, 2 | | | | 99 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | BLM CL E G H | 641 | 1058 | OMIM:210900 | Bloom syndrome | | | | 314 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | BMP4 CL E G H | 652 | 1071 | ORPHA:199306 | Cleft lip/palate | | | | 38 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040283 - Occasional | | | 276 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:269700 | Lipodystrophy, congenital generalized, type 2 | | | | 105 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | C1R CL E G H | 715 | 1246 | OMIM:130080 | Ehlers-Danlos syndrome, periodontal type, 1 | | | | 15 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | CADM3 CL E G H | 57863 | 17601 | OMIM:619519 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF | | | | 1 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | CAMK2B CL E G H | 816 | 1461 | OMIM:617799 | Mental retardation, autosomal dominant 54 | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | CAMKMT CL E G H | 79823 | 26276 | ORPHA:163693 | 2p21 microdeletion syndrome | | | | 1 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | | | | 34 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | CAPN15 CL E G H | 6650 | 11182 | OMIM:619318 | OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | CCDC141 CL E G H | 285025 | 26821 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:143 | Parathyroid carcinoma | | | | 169 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | CDH1 CL E G H | 999 | 1748 | ORPHA:199306 | Cleft lip/palate | | | | 1003 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | CEP104 CL E G H | 9731 | 24866 | OMIM:619988 | | | | | 5 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | CHAT CL E G H | 1103 | 1912 | OMIM:254210 | Myasthenic syndrome, congenital, 6, presynaptic | | | | 65 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 65 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 515 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 515 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:608930 | Myasthenic syndrome, congenital, 1B, fast-channel | | | | 74 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | CHRNB1 CL E G H | 1140 | 1961 | OMIM:616313 | Myasthenic syndrome, congenital, 2A, slow-channel | | | | 53 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:605809 | Myasthenic syndrome, congenital, 4A, slow-channel | | | | 139 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | | | | 139 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | CIZ1 CL E G H | 25792 | 16744 | ORPHA:420492 | Adult-onset cervical dystonia, DYT23 type | | | | 16 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | CNOT2 CL E G H | 4848 | 7878 | OMIM:618608 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS | | | | 2 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 6 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | COL6A3 CL E G H | 1293 | 2213 | OMIM:616411 | Dystonia 27 | | | | 702 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:464440 | Primary dystonia, DYT27 type | | | | 702 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | COLQ CL E G H | 8292 | 2226 | OMIM:603034 | Myasthenic syndrome, congenital, 5 | | | | 90 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | COLQ CL E G H | 8292 | 2226 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | | | | 90 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 6 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:227510 | Multiple system atrophy, cerebellar type | | | | 54 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | COQ9 CL E G H | 57017 | 25302 | OMIM:614654 | Coenzyme Q10 deficiency, primary, 5 | | | | 44 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | CRLF1 CL E G H | 9244 | 2364 | OMIM:272430 | Crisponi/cold-induced sweating syndrome 1 | | | | 24 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | CRYAB CL E G H | 1410 | 2389 | ORPHA:399058 | Alpha-B crystallin-related late-onset myopathy | | | | 46 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | CRYAB CL E G H | 1410 | 2389 | OMIM:613869 | Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related | | | | 46 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | CTNND2 CL E G H | 1501 | 2516 | ORPHA:281 | Monosomy 5p | HP:0040281 - Very frequent | | | 15 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | CWF19L1 CL E G H | 55280 | 25613 | ORPHA:453521 | Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency | | | | 9 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | CYP27A1 CL E G H | 1593 | 2605 | OMIM:213700 | Cerebrotendinous xanthomatosis | | | | 114 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | DCC CL E G H | 1630 | 2701 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | DCTN1 CL E G H | 1639 | 2711 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | | | | 86 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | DCTN1 CL E G H | 1639 | 2711 | OMIM:607641 | Neuronopathy, distal hereditary motor, type VIIB | | | | 86 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | DCTN1 CL E G H | 1639 | 2711 | OMIM:168605 | Perry syndrome | | | | 86 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | DDRGK1 CL E G H | 65992 | 16110 | OMIM:602557 | Spondyloepimetaphyseal dysplasia, Shohat type | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | DDRGK1 CL E G H | 65992 | 16110 | ORPHA:93352 | Spondyloepimetaphyseal dysplasia, Shohat type | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | | | | 33 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | DGCR2 CL E G H | 9993 | 2845 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | DGCR6 CL E G H | 8214 | 2846 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | DGCR8 CL E G H | 54487 | 2847 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | DGUOK CL E G H | 1716 | 2858 | ORPHA:329314 | Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | | | | 57 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | DGUOK CL E G H | 1716 | 2858 | OMIM:617070 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | | | | 57 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | DKK1 CL E G H | 22943 | 2891 | ORPHA:268882 | Arnold-Chiari malformation type I | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | DLEC1 CL E G H | 9940 | 2899 | ORPHA:99977 | Squamous cell carcinoma of the esophagus | HP:0040282 - Frequent | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | DLG1 CL E G H | 1739 | 2900 | ORPHA:199306 | Cleft lip/palate | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | DLST CL E G H | 1743 | 2911 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | DLX4 CL E G H | 1748 | 2917 | ORPHA:199306 | Cleft lip/palate | | | | 1 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | DLX4 CL E G H | 1748 | 2917 | OMIM:616788 | Orofacial cleft 15 | | | | 1 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | DNAJB2 CL E G H | 3300 | 5228 | OMIM:614881 | Spinal muscular atrophy, distal, autosomal recessive, 5 | | | | 30 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | DNAJC13 CL E G H | 23317 | 30343 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 2 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | DNAJC6 CL E G H | 9829 | 15469 | ORPHA:391411 | Atypical juvenile parkinsonism | | | | 6 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | DNMT3A CL E G H | 1788 | 2978 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 44 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | DST CL E G H | 667 | 1090 | OMIM:614653 | Neuropathy, hereditary sensory and autonomic, type VI | | | | 108 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:226316 | Genetic transient congenital hypothyroidism | | | | 121 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 4 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | DYNC1I2 CL E G H | 1781 | 2964 | OMIM:618492 | Neurodevelopmental disorder with microcephaly and structural brain anomalies | | | | 1 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ECM1 CL E G H | 1893 | 3153 | ORPHA:530 | Lipoid proteinosis | | | | 14 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ECM1 CL E G H | 1893 | 3153 | OMIM:247100 | Urbach-Wiethe disease | | | | 14 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | | | | 115 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | EED CL E G H | 8726 | 3188 | ORPHA:3447 | Weaver syndrome | | | | 4 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | EIF2AK2 CL E G H | 5610 | 9437 | ORPHA:256 | Early-onset generalized limb-onset dystonia | HP:0040282 - Frequent | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | EIF4A3 CL E G H | 9775 | 18683 | OMIM:268305 | Robin sequence with cleft mandible and limb anomalies | . | | | 4 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | EIF4G1 CL E G H | 1981 | 3296 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 2 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 172 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | EMD CL E G H | 2010 | 3331 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | | | | 107 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | EPAS1 CL E G H | 2034 | 3374 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 112 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | | | | 106 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | | | | 54 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ERCC4 CL E G H | 2072 | 3436 | OMIM:610965 | XFE progeroid syndrome | | | | 158 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ESS2 CL E G H | 8220 | 16817 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | EXOSC9 CL E G H | 5393 | 9137 | OMIM:618065 | Pontocerebellar hypoplasia, type 1D | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | EZH2 CL E G H | 2146 | 3527 | ORPHA:3447 | Weaver syndrome | | | | 81 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | | | | 81 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | FAM111A CL E G H | 63901 | 24725 | ORPHA:93325 | Autosomal dominant Kenny-Caffey syndrome | | | | 8 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | FAM111A CL E G H | 63901 | 24725 | OMIM:127000 | Kenny-caffey syndrome, type 2 | | | | 8 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:969 | Acromicric dysplasia | | | | 1361 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:102370 | Acromicric dysplasia | | | | 1361 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | FBXO7 CL E G H | 25793 | 13586 | OMIM:260300 | Parkinson disease 15, autosomal recessive early-onset | | | | 36 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | FBXO7 CL E G H | 25793 | 13586 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | | | | 36 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | FEZF1 CL E G H | 389549 | 22788 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | FGF17 CL E G H | 8822 | 3673 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | FGF17 CL E G H | 8822 | 3673 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 3 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 17 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 17 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 172 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 172 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | FH CL E G H | 2271 | 3700 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 301 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300280 | Uruguay faciocardiomusculoskeletal syndrome | . | | | 68 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | FHL1 CL E G H | 2273 | 3702 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | | | | 68 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:208441 | Bilateral parasagittal parieto-occipital polymicrogyria | | | | 111 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:588 | Muscle-eye-brain disease | HP:0040282 - Frequent | | | 157 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:272 | Congenital muscular dystrophy, Fukuyama type | | | | 184 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:588 | Muscle-eye-brain disease | HP:0040282 - Frequent | | | 184 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:309350 | Melnick-Needles syndrome | | | | 493 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | FLRT3 CL E G H | 23767 | 3762 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:261483 | Xq27.3q28 duplication syndrome | | | | 30 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | FOXP1 CL E G H | 27086 | 3823 | ORPHA:391372 | Intellectual disability-severe speech delay-mild dysmorphism syndrome | | | | 184 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | FOXP2 CL E G H | 93986 | 13875 | ORPHA:209908 | Childhood apraxia of speech | | | | 143 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | FRRS1L CL E G H | 23732 | 1362 | ORPHA:725 | Continuous spikes and waves during sleep | | | | 4 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | FTL CL E G H | 2512 | 3999 | OMIM:606159 | Neurodegeneration with brain iron accumulation 3 | | | | 33 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | FTL CL E G H | 2512 | 3999 | ORPHA:157846 | Neuroferritinopathy | | | | 33 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | FTO CL E G H | 79068 | 24678 | OMIM:612938 | Growth retardation, developmental delay, coarse facies, and earlydeath | | | | 70 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | FUZ CL E G H | 80199 | 26219 | ORPHA:1136 | Arnold-Chiari malformation type II | | | | 3 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:1945 | Rolandic epilepsy | | | | 139 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GALT CL E G H | 2592 | 4135 | ORPHA:79239 | Classic galactosemia | | | | 351 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GARS1 CL E G H | 2617 | 4162 | OMIM:619042 | SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:168600 | Parkinson disease, late-onset | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:101097 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | | | | 108 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99948 | Charcot-Marie-Tooth disease type 4A | | | | 108 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GDAP1 CL E G H | 54332 | 15968 | OMIM:607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive | | | | 108 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GFAP CL E G H | 2670 | 4235 | ORPHA:363722 | Alexander disease type II | | | | 188 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GFPT1 CL E G H | 2673 | 4241 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | | | | 128 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GGPS1 CL E G H | 9453 | 4249 | OMIM:619518 | MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GHR CL E G H | 2690 | 4263 | OMIM:262500 | Laron syndrome | | | | 98 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GHR CL E G H | 2690 | 4263 | ORPHA:633 | Laron syndrome | | | | 98 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GIGYF2 CL E G H | 26058 | 11960 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 8 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GIPC1 CL E G H | 10755 | 1226 | ORPHA:98897 | Oculopharyngodistal myopathy | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GLUD2 CL E G H | 2747 | 4336 | OMIM:168600 | Parkinson disease, late-onset | | | | 1 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GMPPA CL E G H | 29926 | 22923 | OMIM:615510 | Alacrima, achalasia, and mental retardation syndrome | | | | 24 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:588 | Muscle-eye-brain disease | HP:0040282 - Frequent | | | 34 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GNAI3 CL E G H | 2773 | 4387 | OMIM:602483 | Auriculocondylar syndrome 1 | | | | 2 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GNAL CL E G H | 2774 | 4388 | ORPHA:329466 | Autosomal dominant focal dystonia, DYT25 type | | | | 13 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GNAL CL E G H | 2774 | 4388 | OMIM:615073 | Dystonia 25 | | | | 13 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | | | | 101 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | | | | 101 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | | | | 101 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GNE CL E G H | 10020 | 23657 | ORPHA:3166 | Sialuria | | | | 173 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | | | | 240 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | | | | 240 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GNRH1 CL E G H | 2796 | 4419 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 15 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GNRHR CL E G H | 2798 | 4421 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 92 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 8 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040283 - Occasional | | | 73 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:2662 | Keipert syndrome | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040283 - Occasional | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | | | | 5 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GRB10 CL E G H | 2887 | 4564 | ORPHA:96182 | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GRHL3 CL E G H | 57822 | 25839 | ORPHA:99772 | Cleft velum | | | | 12 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:725 | Continuous spikes and waves during sleep | | | | 434 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:98818 | Landau-Kleffner syndrome | | | | 434 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:1945 | Rolandic epilepsy | | | | 434 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:163721 | Rolandic epilepsy-speech dyspraxia syndrome | | | | 434 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | | | | 2 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | HAAO CL E G H | 23498 | 4796 | OMIM:617660 | Vertebral, cardiac, renal, and limb defects syndrome 1 | | | | 2 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | HACD1 CL E G H | 9200 | 9639 | OMIM:619967 | | | | | 2 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | HACD1 CL E G H | 9200 | 9639 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 2 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | | | | 37 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 21 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 3 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | HMBS CL E G H | 3145 | 4982 | ORPHA:79276 | Acute intermittent porphyria | | | | 81 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | | | | 113 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 8 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | | | | 345 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | | | | 345 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | HTRA1 CL E G H | 5654 | 9476 | ORPHA:199354 | Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy | | | | 34 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | HTT CL E G H | 3064 | 4851 | ORPHA:399 | Huntington disease | | | | 12 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217093 | Mucopolysaccharidosis type 2, attenuated form | | | | 86 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217085 | Mucopolysaccharidosis type 2, severe form | | | | 86 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | | | | 86 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 28 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | IGF1R CL E G H | 3480 | 5465 | OMIM:270450 | Insulin-Like growth factor I, resistance to | | | | 268 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | IGHMBP2 CL E G H | 3508 | 5542 | OMIM:604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | | | | 209 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | IL17RD CL E G H | 54756 | 17616 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | IL1RAPL1 CL E G H | 11141 | 5996 | OMIM:300143 | Mental retardation, X-linked 21 | | | | 42 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | INPP5K CL E G H | 51763 | 33882 | ORPHA:559 | Marinesco-Sjögren syndrome | | | | 7 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:217377 | Microduplication Xp11.22p11.23 syndrome | | | | 119 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | | | | 119 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:141291 | Cleft lip and alveolus | | | | 99 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:199306 | Cleft lip/palate | | | | 99 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:199302 | Isolated cleft lip | | | | 99 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ITGA7 CL E G H | 3679 | 6143 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 127 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ITPA CL E G H | 3704 | 6176 | OMIM:616647 | Epileptic encephalopathy, early infantile, 35 | | | | 8 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:619574 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH | | | | 257 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 2 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | | | | 283 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | KCNK9 CL E G H | 51305 | 6283 | ORPHA:166108 | Intellectual disability, Birk-Barel type | | | | 4 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | KCTD17 CL E G H | 79734 | 25705 | OMIM:616398 | Dystonia 26, myoclonic | | | | 1 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | KDM6A CL E G H | 7403 | 12637 | OMIM:147920 | Kabuki syndrome 1 | | | | 53 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | KIF1B CL E G H | 23095 | 16636 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 202 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | KISS1 CL E G H | 3814 | 6341 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 3 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | KISS1R CL E G H | 84634 | 4510 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 14 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | KMT2B CL E G H | 9757 | 15840 | ORPHA:589618 | Dystonia 28 | | | | 11 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | KMT2B CL E G H | 9757 | 15840 | OMIM:617284 | Dystonia 28, childhood-onset | | | | 11 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | KMT2D CL E G H | 8085 | 7133 | OMIM:147920 | Kabuki syndrome 1 | | | | 660 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | | | | 110 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | KRT14 CL E G H | 3861 | 6416 | OMIM:131760 | Epidermolysis bullosa simplex, Dowling-Meara type | | | | 110 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | KRT16 CL E G H | 3868 | 6423 | ORPHA:2309 | Pachyonychia congenita | | | | 27 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | KRT17 CL E G H | 3872 | 6427 | ORPHA:2309 | Pachyonychia congenita | | | | 23 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | KRT17 CL E G H | 3872 | 6427 | OMIM:167210 | Pachyonychia congenita 2 | | | | 23 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | | | | 173 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | KRT5 CL E G H | 3852 | 6442 | OMIM:131760 | Epidermolysis bullosa simplex, Dowling-Meara type | | | | 173 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | KRT6A CL E G H | 3853 | 6443 | ORPHA:2309 | Pachyonychia congenita | | | | 41 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | KRT6B CL E G H | 3854 | 6444 | ORPHA:2309 | Pachyonychia congenita | | | | 4 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | LAMA2 CL E G H | 3908 | 6482 | ORPHA:258 | Laminin subunit alpha 2-related congenital muscular dystrophy | | | | 411 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | LAMA3 CL E G H | 3909 | 6483 | OMIM:245660 | Laryngoonychocutaneous syndrome | | | | 116 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | | | | 116 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | LAMB2 CL E G H | 3913 | 6487 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | | | | 92 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | | | | 167 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | | | | 135 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:588 | Muscle-eye-brain disease | HP:0040282 - Frequent | | | 136 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | LEMD3 CL E G H | 23592 | 28887 | OMIM:166700 | Buschke-Ollendorff syndrome | | | | 68 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:1306 | Buschke-Ollendorff syndrome | | | | 68 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | LIFR CL E G H | 3977 | 6597 | OMIM:601559 | Stuve-Wiedemann syndrome | | | | 144 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 645 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | | | | 645 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | LMNB1 CL E G H | 4001 | 6637 | OMIM:169500 | Leukodystrophy, adult-onset, autosomal dominant | | | | 44 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | LONP1 CL E G H | 9361 | 9479 | OMIM:600373 | CODAS syndrome | | | | 8 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | LRP12 CL E G H | 29967 | 31708 | OMIM:164310 | Oculopharyngodistal myopathy 1 | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 221 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | LTBP3 CL E G H | 4054 | 6716 | ORPHA:969 | Acromicric dysplasia | | | | 12 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | LTBP3 CL E G H | 4054 | 6716 | OMIM:617809 | Geleophysic dysplasia 3 | | | | 12 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | LYRM4 CL E G H | 57128 | 21365 | OMIM:615595 | Combined oxidative phosphorylation deficiency 19 | | | | 4 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | | | | 63 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 63 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 63 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:615547 | Schaaf-Yang syndrome | | | | 63 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 2 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:168600 | Parkinson disease, late-onset | | | | 140 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240103 | Progressive supranuclear palsy-corticobasal syndrome | | | | 140 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240112 | Progressive supranuclear palsy-progressive non-fluent aphasia syndrome | | | | 140 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240094 | Progressive supranuclear palsy-pure akinesia with gait freezing syndrome | | | | 140 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MATR3 CL E G H | 9782 | 6912 | OMIM:606070 | Amyotrophic lateral sclerosis 21 | | | | 80 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MATR3 CL E G H | 9782 | 6912 | ORPHA:600 | Vocal cord and pharyngeal distal myopathy | | | | 80 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MAX CL E G H | 4149 | 6913 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 84 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MDH2 CL E G H | 4191 | 6971 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 4 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MDM2 CL E G H | 4193 | 6973 | OMIM:618681 | LESSEL-KUBISCH SYNDROME; LSKB | | | | 1 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:778 | Rett syndrome | | | | 950 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MED12 CL E G H | 9968 | 11957 | ORPHA:776 | Lujan-Fryns syndrome | HP:0040281 - Very frequent | | | 228 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:309520 | Lujan-Fryns syndrome | | | | 228 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:305450 | Opitz-Kaveggia syndrome | | | | 228 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MEGF10 CL E G H | 84466 | 29634 | OMIM:614399 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | | | | 158 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MFN2 CL E G H | 9927 | 16877 | ORPHA:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | | | | 203 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MFN2 CL E G H | 9927 | 16877 | OMIM:601152 | Hereditary motor and sensory neuropathy VI | | | | 203 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MGME1 CL E G H | 92667 | 16205 | OMIM:615084 | Mitochondrial DNA depletion syndrome 11 | | | | 11 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MGME1 CL E G H | 92667 | 16205 | ORPHA:352447 | Progressive external ophthalmoplegia-myopathy-emaciation syndrome | | | | 11 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MGP CL E G H | 4256 | 7060 | OMIM:245150 | Keutel syndrome | | | | 33 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MID1 CL E G H | 4281 | 7095 | OMIM:300000 | Opitz gbbb syndrome, type I | | | | 57 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | | | | 8 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MORC2 CL E G H | 22880 | 23573 | OMIM:616688 | Charcot-Marie-Tooth disease, axonal, type 2Z | | | | 8 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | | | | 9 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MSX1 CL E G H | 4487 | 7391 | ORPHA:141291 | Cleft lip and alveolus | | | | 12 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MSX1 CL E G H | 4487 | 7391 | ORPHA:199306 | Cleft lip/palate | | | | 12 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MSX1 CL E G H | 4487 | 7391 | ORPHA:199302 | Isolated cleft lip | | | | 12 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MTX2 CL E G H | 10651 | 7506 | OMIM:619127 | MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MYCN CL E G H | 4613 | 7559 | OMIM:164280 | Feingold syndrome 1 | | | | 35 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MYH14 CL E G H | 79784 | 23212 | OMIM:614369 | Peripheral neuropathy, myopathy, hoarseness, and hearing loss | | | | 227 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MYH14 CL E G H | 79784 | 23212 | ORPHA:397744 | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | | | | 227 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:193700 | Arthrogryposis, distal, type 2A | | | | 166 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2053 | Freeman-Sheldon syndrome | | | | 166 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:324604 | Classic multiminicore myopathy | | | | 1269 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | | | | 1269 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MYL2 CL E G H | 4633 | 7583 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 131 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MYMX CL E G H | 101929726 | 52391 | OMIM:619941 | | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MYOT CL E G H | 9499 | 12399 | ORPHA:98911 | Distal myotilinopathy | | | | 75 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MYOT CL E G H | 9499 | 12399 | OMIM:182920 | Myopathy, spheroid body | | | | 75 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:171881 | Cap myopathy | | | | 217 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:2053 | Freeman-Sheldon syndrome | | | | 48 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | NBAS CL E G H | 51594 | 15625 | OMIM:614800 | Short stature, optic nerve atrophy, and pelger-huet anomaly | | | | 25 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ND3 CL E G H | 4537 | 7458 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | NDNF CL E G H | 79625 | 26256 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | NDUFS8 CL E G H | 4728 | 7715 | OMIM:618222 | Mitochondrial complex I deficiency, nuclear type 2 | | | | 42 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:141291 | Cleft lip and alveolus | | | | 4 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:199306 | Cleft lip/palate | | | | 4 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:199302 | Isolated cleft lip | | | | 4 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | NEFH CL E G H | 4744 | 7737 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | | | | 24 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93399 | Juvenile sialidosis type 2 | | | | 43 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 1952 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:363700 | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | | | | 1952 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | NFE2L2 CL E G H | 4780 | 7782 | OMIM:617744 | Immunodeficiency, developmental delay, and hypohomocysteinemia | | | | 20 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | | | | 494 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | | | | 494 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | NLRP1 CL E G H | 22861 | 14374 | OMIM:618803 | RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL; JRRP | | | | 37 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:575 | Muckle-Wells syndrome | HP:0040283 - Occasional | | | 217 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | | | | 10 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | NONO CL E G H | 4841 | 7871 | OMIM:300967 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 | | | | 10 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | NOTCH2NLC CL E G H | 100996717 | 53924 | ORPHA:98897 | Oculopharyngodistal myopathy | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | NOTCH3 CL E G H | 4854 | 7883 | OMIM:125310 | Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy | | | | 144 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | NR4A2 CL E G H | 4929 | 7981 | OMIM:168600 | Parkinson disease, late-onset | | | | 27 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:3447 | Weaver syndrome | | | | 544 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | NSMF CL E G H | 26012 | 29843 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 6 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 121 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 121 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040281 - Very frequent | | | 88 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:616896 | MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14 | | | | 214 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ORC4 CL E G H | 5000 | 8490 | OMIM:613800 | Meier-Gorlin syndrome 2 | | | | 21 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | P4HB CL E G H | 5034 | 8548 | ORPHA:2050 | Cole-Carpenter syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | P4HB CL E G H | 5034 | 8548 | OMIM:112240 | Cole-Carpenter syndrome 1 | | | | 2 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | PABPN1 CL E G H | 8106 | 8565 | OMIM:164300 | Oculopharyngeal muscular dystrophy | | | | 10 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | PANK2 CL E G H | 80025 | 15894 | OMIM:234200 | Neurodegeneration with brain iron accumulation 1 | | | | 55 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | PAX8 CL E G H | 7849 | 8622 | OMIM:218700 | Hypothyroidism, congenital, nongoitrous, 2 | | | | 63 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | PCNT CL E G H | 5116 | 16068 | ORPHA:2637 | Microcephalic osteodysplastic primordial dwarfism type II | | | | 531 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | | | | 531 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | PDGFRA CL E G H | 5156 | 8803 | ORPHA:199306 | Cleft lip/palate | | | | 337 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | PEX19 CL E G H | 5824 | 9713 | OMIM:614886 | Peroxisome biogenesis disorder 12A (Zellweger) | | | | 62 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | PHF8 CL E G H | 23133 | 20672 | OMIM:300263 | Siderius X-linked mental retardation syndrome | | | | 23 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | PI4KA CL E G H | 5297 | 8983 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | | | | 11 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | | | | 37 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | PLCB4 CL E G H | 5332 | 9059 | OMIM:614669 | Auriculocondylar syndrome 2 | | | | 82 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | PLEC CL E G H | 5339 | 9069 | ORPHA:254361 | Plectin-related limb-girdle muscular dystrophy R17 | | | | 759 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:570 | Moebius syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:640 | Hereditary neuropathy with liability to pressure palsies | HP:0040283 - Occasional | | | 79 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:162500 | Neuropathy, hereditary, with liability to pressure palsies | | | | 79 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | PNPO CL E G H | 55163 | 30260 | ORPHA:79096 | Pyridoxal phosphate-responsive seizures | | | | 92 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | POC1A CL E G H | 25886 | 24488 | OMIM:614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | | | | 10 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | PODXL CL E G H | 5420 | 9171 | ORPHA:391411 | Atypical juvenile parkinsonism | | | | 6 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | POLA1 CL E G H | 5422 | 9173 | OMIM:301030 | Van esch-o'driscoll syndrome | | | | 2 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | POLD1 CL E G H | 5424 | 9175 | OMIM:615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | | | | 731 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | | | | 464 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | | | | 464 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 464 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:588 | Muscle-eye-brain disease | HP:0040282 - Frequent | | | 180 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:588 | Muscle-eye-brain disease | HP:0040282 - Frequent | | | 213 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:588 | Muscle-eye-brain disease | HP:0040282 - Frequent | | | 221 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | POU1F1 CL E G H | 5449 | 9210 | OMIM:613038 | Pituitary hormone deficiency, combined, 1 | | | | 36 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | PPM1B CL E G H | 5495 | 9276 | ORPHA:163693 | 2p21 microdeletion syndrome | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | PPP1R15B CL E G H | 84919 | 14951 | OMIM:616817 | Microcephaly, short stature, and impaired glucose metabolism 2 | | | | 2 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | PPP1R15B CL E G H | 84919 | 14951 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | | | | 2 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | PPP1R21 CL E G H | 129285 | 30595 | OMIM:619383 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | PPP3CA CL E G H | 5530 | 9314 | OMIM:617711 | Epileptic encephalopathy, infantile or early childhood, 1 | | | | 2 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | PQBP1 CL E G H | 10084 | 9330 | OMIM:309500 | Renpenning syndrome | | | | 28 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | PREPL CL E G H | 9581 | 30228 | ORPHA:163693 | 2p21 microdeletion syndrome | | | | 7 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | PREPL CL E G H | 9581 | 30228 | ORPHA:163690 | Hypotonia-cystinuria syndrome | | | | 7 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | PRKRA CL E G H | 8575 | 9438 | ORPHA:210571 | Dystonia 16 | | | | 37 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | PRKRA CL E G H | 8575 | 9438 | OMIM:612067 | Dystonia 16 | | | | 37 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | PROK2 CL E G H | 60675 | 18455 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | PROK2 CL E G H | 60675 | 18455 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 9 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 34 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | PRPH CL E G H | 5630 | 9461 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | | | | 25 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | PRX CL E G H | 57716 | 13797 | OMIM:614895 | Charcot-Marie-Tooth disease, demyelinating, type 4F | | | | 170 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040283 - Occasional | | | 291 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | PYROXD1 CL E G H | 79912 | 26162 | OMIM:617258 | MYOPATHY, MYOFIBRILLAR, 8; MFM8 | | | | 5 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | | | | 25 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | RAF1 CL E G H | 5894 | 9829 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040283 - Occasional | | | 212 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | RAI1 CL E G H | 10743 | 9834 | OMIM:182290 | Smith-Magenis syndrome | | | | 150 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | | | | 150 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | RAPSN CL E G H | 5913 | 9863 | OMIM:618388 | FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2 | | | | 73 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | RAPSN CL E G H | 5913 | 9863 | OMIM:616326 | Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | | | | 73 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | RARS1 CL E G H | 5917 | 9870 | ORPHA:438114 | RARS-related autosomal recessive hypomyelinating leukodystrophy | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | RBBP8 CL E G H | 5932 | 9891 | OMIM:606744 | Seckel syndrome 2 | | | | 68 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | RET CL E G H | 5979 | 9967 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 572 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | RET CL E G H | 5979 | 9967 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 572 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | REV3L CL E G H | 5980 | 9968 | ORPHA:570 | Moebius syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | RILPL1 CL E G H | 353116 | 26814 | OMIM:619790 | OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4 | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | RIN2 CL E G H | 54453 | 18750 | OMIM:613075 | Macs syndrome | | | | 43 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | RIN2 CL E G H | 54453 | 18750 | ORPHA:217335 | RIN2 syndrome | | | | 43 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 33 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 34 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 60 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | RNF6 CL E G H | 6049 | 10069 | ORPHA:99977 | Squamous cell carcinoma of the esophagus | HP:0040282 - Frequent | | | 3 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | RRM2B CL E G H | 50484 | 17296 | OMIM:613077 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | | | | 125 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | | | | 1200 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:324581 | Benign Samaritan congenital myopathy | | | | 1200 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | | | | 1200 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 55 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SBF2 CL E G H | 81846 | 2135 | ORPHA:99956 | Charcot-Marie-Tooth disease type 4B2 | | | | 180 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:99735 | Myotonia permanens | HP:0040283 - Occasional | | | 263 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 304 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SDHA CL E G H | 6389 | 10680 | OMIM:619259 | NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA | | | | 304 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SDHAF2 CL E G H | 54949 | 26034 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 55 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SDHAF2 CL E G H | 54949 | 26034 | OMIM:601650 | Paragangliomas 2 | | | | 55 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 237 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 237 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 147 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SDHC CL E G H | 6391 | 10682 | OMIM:605373 | Paragangliomas 3 | | | | 147 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 129 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SDHD CL E G H | 6392 | 10683 | OMIM:168000 | Paragangliomas 1 | | | | 129 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 129 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SEC24D CL E G H | 9871 | 10706 | ORPHA:2050 | Cole-Carpenter syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SEC24D CL E G H | 9871 | 10706 | OMIM:616294 | Cole-Carpenter syndrome 2 | | | | 5 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SEC31A CL E G H | 22872 | 17052 | OMIM:618651 | HALPERIN-BIRK SYNDROME; HLBKS | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SELENON CL E G H | 57190 | 15999 | ORPHA:324604 | Classic multiminicore myopathy | | | | 144 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SELENON CL E G H | 57190 | 15999 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 144 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SELENON CL E G H | 57190 | 15999 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | | | | 144 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SELENON CL E G H | 57190 | 15999 | OMIM:602771 | Rigid spine muscular dystrophy 1 | | | | 144 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SEMA3A CL E G H | 10371 | 10723 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SEMA5A CL E G H | 9037 | 10736 | ORPHA:281 | Monosomy 5p | HP:0040281 - Very frequent | | | 6 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SERPING1 CL E G H | 710 | 1228 | ORPHA:100050 | Hereditary angioedema type 1 | | | | 64 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SERPINH1 CL E G H | 871 | 1546 | OMIM:613848 | Osteogenesis imperfecta, type X | | | | 52 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SET CL E G H | 6418 | 10760 | OMIM:618106 | Mental retardation, autosomal dominant 58 | | | | 1 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | | | | 143 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:261197 | Proximal 16p11.2 microdeletion syndrome | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SH3BP2 CL E G H | 6452 | 10825 | ORPHA:184 | Cherubism | HP:0040283 - Occasional | | | 177 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SH3TC2 CL E G H | 79628 | 29427 | ORPHA:99949 | Charcot-Marie-Tooth disease type 4C | | | | 493 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SHOC2 CL E G H | 8036 | 15454 | OMIM:607721 | Noonan syndrome-like with loose anagen hair 1 | | | | 74 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SHQ1 CL E G H | 55164 | 25543 | ORPHA:256 | Early-onset generalized limb-onset dystonia | HP:0040282 - Frequent | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SIL1 CL E G H | 64374 | 24624 | ORPHA:559 | Marinesco-Sjögren syndrome | | | | 67 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | | | | 40 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SLC18A2 CL E G H | 6571 | 10935 | ORPHA:352649 | Brain dopamine-serotonin vesicular transport disease | | | | 2 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SLC18A2 CL E G H | 6571 | 10935 | OMIM:618049 | Parkinsonism-Dystonia, infantile, 2 | | | | 2 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SLC19A2 CL E G H | 10560 | 10938 | OMIM:249270 | Thiamine-Responsive megaloblastic anemia syndrome | | | | 55 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 28 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SLC25A11 CL E G H | 8402 | 10981 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:222600 | Diastrophic dysplasia | | | | 166 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SLC2A3 CL E G H | 6515 | 11007 | ORPHA:399 | Huntington disease | | | | 1 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SLC3A1 CL E G H | 6519 | 11025 | ORPHA:163693 | 2p21 microdeletion syndrome | | | | 55 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SLC3A1 CL E G H | 6519 | 11025 | ORPHA:163690 | Hypotonia-cystinuria syndrome | | | | 55 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SLC52A3 CL E G H | 113278 | 16187 | OMIM:211530 | Brown-Vialetto-Van laere syndrome 1 | | | | 51 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SLC5A7 CL E G H | 60482 | 14025 | OMIM:617143 | Myasthenic syndrome, congenital, 20, presynaptic | | | | 9 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SLC5A7 CL E G H | 60482 | 14025 | OMIM:158580 | Neuronopathy, distal hereditary motor, type VIIA | | | | 9 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 9 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SMAD4 CL E G H | 4089 | 6770 | OMIM:139210 | Myhre syndrome | . | | | 504 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | | | | 74 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | | | | 135 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | | | | 91 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SMS CL E G H | 6611 | 11123 | OMIM:309583 | Mental retardation, X-linked, syndromic, Snyder-Robinson type | | | | 19 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SMS CL E G H | 6611 | 11123 | ORPHA:3063 | X-linked intellectual disability, Snyder type | | | | 19 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 65 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | | | | 65 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SNCAIP CL E G H | 9627 | 11139 | OMIM:168600 | Parkinson disease, late-onset | | | | 35 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SNRPB CL E G H | 6628 | 11153 | OMIM:117650 | Cerebrocostomandibular syndrome | | | | 6 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 37 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 37 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | | | | 37 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SOD1 CL E G H | 6647 | 11179 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | | | | 53 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 61 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SPART CL E G H | 23111 | 18514 | ORPHA:101000 | Autosomal recessive spastic paraplegia type 20 | | | | 66 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SPEG CL E G H | 10290 | 16901 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | | | | 20 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SPG7 CL E G H | 6687 | 11237 | ORPHA:99013 | Spastic paraplegia type 7 | | | | 171 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 5 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | | | | 138 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SRD5A2 CL E G H | 6716 | 11285 | OMIM:264600 | Pseudovaginal perineoscrotal hypospadias | . | | | 86 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | | | | 50 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:1945 | Rolandic epilepsy | | | | 50 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:163721 | Rolandic epilepsy-speech dyspraxia syndrome | | | | 50 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:521258 | Xq25 microduplication syndrome | | | | 1 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | STAT5B CL E G H | 6777 | 11367 | OMIM:245590 | GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY | | | | 12 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | STX16 CL E G H | 8675 | 11431 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | | | | 86 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SUZ12 CL E G H | 23512 | 17101 | ORPHA:3447 | Weaver syndrome | | | | 1 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 1129 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SYNE2 CL E G H | 23224 | 17084 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 508 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:391411 | Atypical juvenile parkinsonism | | | | 9 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SYNJ1 CL E G H | 8867 | 11503 | OMIM:615530 | Parkinson disease 20, early-onset | | | | 9 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SYT2 CL E G H | 127833 | 11510 | OMIM:619461 | MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B | | | | 4 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 4 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TAC3 CL E G H | 6866 | 11521 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 6 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TACR3 CL E G H | 6870 | 11528 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TACR3 CL E G H | 6870 | 11528 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 34 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TBC1D2B CL E G H | 23102 | 29183 | ORPHA:397973 | Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TBP CL E G H | 6908 | 11588 | OMIM:168600 | Parkinson disease, late-onset | | | | 7 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 32 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:1727 | 22q11.2 duplication syndrome | | | | 32 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | | | | 32 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:192430 | Velocardiofacial syndrome | | | | 32 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TFAP2A CL E G H | 7020 | 11742 | ORPHA:1297 | Branchio-oculo-facial syndrome | | | | 12 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | | | | 12 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:99977 | Squamous cell carcinoma of the esophagus | HP:0040282 - Frequent | | | 253 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TGM6 CL E G H | 343641 | 16255 | OMIM:613908 | Spinocerebellar ataxia 35 | | | | 58 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TGM6 CL E G H | 343641 | 16255 | ORPHA:276193 | Spinocerebellar ataxia type 35 | | | | 58 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | THAP1 CL E G H | 55145 | 20856 | OMIM:602629 | Dystonia 6, torsion | | | | 42 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | THAP1 CL E G H | 55145 | 20856 | ORPHA:98806 | Primary dystonia, DYT6 type | | | | 42 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | THRA CL E G H | 7067 | 11796 | OMIM:614450 | Hypothyroidism, congenital, nongoitrous, 6 | | | | 9 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TK2 CL E G H | 7084 | 11831 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | | | | 103 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TLK2 CL E G H | 11011 | 11842 | OMIM:618050 | Mental retardation, autosomal dominant 57 | | | | 1 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TMEM127 CL E G H | 55654 | 26038 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 131 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TMEM43 CL E G H | 79188 | 28472 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 171 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TOR1A CL E G H | 1861 | 3098 | ORPHA:256 | Early-onset generalized limb-onset dystonia | HP:0040282 - Frequent | | | 47 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:141291 | Cleft lip and alveolus | | | | 140 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:199306 | Cleft lip/palate | | | | 140 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:199302 | Isolated cleft lip | | | | 140 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TPK1 CL E G H | 27010 | 17358 | OMIM:614458 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | | | | 21 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171881 | Cap myopathy | | | | 54 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 54 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TPM2 CL E G H | 7169 | 12011 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | | | | 54 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171881 | Cap myopathy | | | | 108 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 108 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TPM3 CL E G H | 7170 | 12012 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | | | | 108 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TRAPPC12 CL E G H | 51112 | 24284 | ORPHA:500144 | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | | | | 2 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 56 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TRH CL E G H | 7200 | 12298 | OMIM:275120 | Thyrotropin-Releasing hormone deficiency | | | | 5 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TRHR CL E G H | 7201 | 12299 | ORPHA:99832 | Resistance to thyrotropin-releasing hormone syndrome | | | | 2 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TRIM2 CL E G H | 23321 | 15974 | OMIM:615490 | Charcot-Marie-Tooth disease, axonal, type 2R | | | | 3 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TRIM37 CL E G H | 4591 | 7523 | ORPHA:2576 | Mulibrey nanism | | | | 78 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TRIM37 CL E G H | 4591 | 7523 | OMIM:253250 | Mulibrey nanism | | | | 78 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TRIP4 CL E G H | 9325 | 12310 | ORPHA:486815 | Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome | | | | 4 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TRMT10A CL E G H | 93587 | 28403 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | | | | 7 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TRNT CL E G H | 4576 | 7499 | OMIM:168600 | Parkinson disease, late-onset | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TRNV CL E G H | 4577 | 7500 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190350 | Trichorhinophalangeal syndrome, type I | | | | 171 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606071 | Hereditary motor and sensory neuropathy, type IIC | | | | 214 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:181405 | Scapuloperoneal spinal muscular atrophy | | | | 214 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TSHB CL E G H | 7252 | 12372 | OMIM:275100 | Hypothyroidism, congenital, nongoitrous, 4 | | | | 9 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TSHB CL E G H | 7252 | 12372 | ORPHA:90674 | Isolated thyroid-stimulating hormone deficiency | | | | 9 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TSHR CL E G H | 7253 | 12373 | ORPHA:90673 | Hypothyroidism due to TSH receptor mutations | | | | 97 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TSPYL1 CL E G H | 7259 | 12382 | OMIM:608800 | Sudden infant death with dysgenesis of the testes syndrome | . | | | 1 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TSPYL1 CL E G H | 7259 | 12382 | ORPHA:168593 | Sudden infant death-dysgenesis of the testes syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TTC19 CL E G H | 54902 | 26006 | OMIM:615157 | Mitochondrial complex III deficiency, nuclear type 2 | | | | 88 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | | | | 7128 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:324604 | Classic multiminicore myopathy | | | | 7128 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TUBB4A CL E G H | 10382 | 20774 | OMIM:128101 | Dystonia 4, torsion, autosomal dominant | | | | 66 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TUBB4A CL E G H | 10382 | 20774 | ORPHA:98805 | Primary dystonia, DYT4 type | | | | 66 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:609286 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | | | | 113 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 113 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | UBB CL E G H | 7314 | 12463 | ORPHA:99772 | Cleft velum | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | UNC45B CL E G H | 146862 | 14304 | OMIM:619178 | MYOFIBRILLAR MYOPATHY 11; MFM11 | | | | 1 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | UPF3B CL E G H | 65109 | 20439 | ORPHA:776 | Lujan-Fryns syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | UPF3B CL E G H | 65109 | 20439 | OMIM:300676 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14 | | | | 33 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | VARS1 CL E G H | 7407 | 12651 | OMIM:617802 | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 490 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 490 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | VPS11 CL E G H | 55823 | 14583 | OMIM:619637 | DYSTONIA 32; DYT32 | | | | 1 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | | | | 130 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | VPS13B CL E G H | 157680 | 2183 | ORPHA:193 | Cohen syndrome | | | | 546 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | VPS35 CL E G H | 55737 | 13487 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 37 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | WDR11 CL E G H | 55717 | 13831 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | WDR11 CL E G H | 55717 | 13831 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 10 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | HP:0040281 - Very frequent | | | 310 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | WRN CL E G H | 7486 | 12791 | OMIM:277700 | Werner syndrome | | | | 310 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | WWOX CL E G H | 51741 | 12799 | ORPHA:99977 | Squamous cell carcinoma of the esophagus | HP:0040282 - Frequent | | | 149 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | XRCC4 CL E G H | 7518 | 12831 | OMIM:616541 | Short stature, microcephaly, and endocrine dysfunction | | | | 9 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ZBTB18 CL E G H | 10472 | 13030 | OMIM:612337 | Mental retardation, autosomal dominant 22 | | | | 16 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ZDHHC9 CL E G H | 51114 | 18475 | ORPHA:776 | Lujan-Fryns syndrome | HP:0040281 - Very frequent | | | 10 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ZFYVE26 CL E G H | 23503 | 20761 | ORPHA:100996 | Autosomal recessive spastic paraplegia type 15 | | | | 189 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | | | | 83 | | |
HP:0001608 | HP:0001608 | Abnormality of the voice | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0001608 | HP:0025429 | Abnormal cry | 1 | ABAT CL E G H | 18 | 23 | OMIM:613163 | GABA-transaminase deficiency | | | | 120 | | |
HP:0001608 | HP:0001609 | Hoarse voice | 1 | ACAN CL E G H | 176 | 319 | OMIM:612813 | Spondyloepimetaphyseal dysplasia, Aggrecan type | | | | 34 | | |
HP:0001608 | HP:0001609 | Hoarse voice | 1 | ACAN CL E G H | 176 | 319 | ORPHA:171866 | Spondyloepimetaphyseal dysplasia, aggrecan type | HP:0040282 - Frequent | | | 34 | | |
HP:0001608 | HP:0001609 | Hoarse voice | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0001608 | HP:0025429 | Abnormal cry | 1 | ACTA1 CL E G H | 58 | 129 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | | | | 96 | | |
HP:0001608 | HP:0001618 | Dysphonia | 1 | ACTB CL E G H | 60 | 132 | OMIM:607371 | Dystonia, juvenile-onset | | | | 72 | | |
HP:0001608 | HP:0001620 | High pitched voice | 1 | ADAMTSL2 CL E G H | 9719 | 14631 | OMIM:231050 | Geleophysic dysplasia 1 | . | | | 72 | | |
HP:0001608 | HP:0001609 | Hoarse voice | 1 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 116 | | |
HP:0001608 | HP:0001618 | Dysphonia | 1 | ADGRG1 CL E G H | 9289 | 4512 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | | | | 88 | | |
HP:0001608 | HP:0001621 | Weak voice | 1 | ADH1C CL E G H | 126 | 251 | OMIM:168600 | Parkinson disease, late-onset | . | | | 4 | | |
HP:0001608 | HP:0001609 | Hoarse voice | 1 | AFF2 CL E G H | 2334 | 3776 | ORPHA:100973 | FRAXE intellectual disability | HP:0040282 - Frequent | | | 59 | | |
HP:0001608 | HP:0001609 | Hoarse voice | 1 | AFF2 CL E G H | 2334 | 3776 | OMIM:309548 | Mental retardation, X-linked, associated with fragile site fraxe | | | | 59 | | |
HP:0001608 | HP:0001609 | Hoarse voice | 1 | AGA CL E G H | 175 | 318 | OMIM:208400 | ASPARTYLGLUCOSAMINURIA | . | | | 76 | | |
HP:0001608 | HP:0001611 | Nasal speech | 1 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 127 | | |
HP:0001608 | HP:0001618 | Dysphonia | 1 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 127 | | |
HP:0001608 | HP:0025429 | Abnormal cry | 1 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 127 | | |
HP:0001608 | HP:0001609 | Hoarse voice | 1 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | HP:0040282 - Frequent | | | 95 | | |
HP:0001608 | HP:0001618 | Dysphonia | 1 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:616586 | Spastic paraplegia 9B, autosomal recessive | | | | 89 | | |
HP:0001608 | HP:0009088 | Speech articulation difficulties | 1 | ALDH4A1 CL E G H | 8659 | 406 | ORPHA:79101 | Hyperprolinemia type 2 | HP:0040283 - Occasional | | | 74 | | |
HP:0001608 | HP:0001618 | Dysphonia | 1 | ALS2 CL E G H | 57679 | 443 | OMIM:606353 | Primary lateral sclerosis, juvenile | | | | 114 | | |
HP:0001608 | HP:0001611 | Nasal speech | 1 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | . | | | 34 | | |
HP:0001608 | HP:0001621 | Weak voice | 1 | AOPEP CL E G H | 84909 | 1361 | OMIM:619565 | DYSTONIA 31; DYT31 | | | | | | |
HP:0001608 | HP:0001618 | Dysphonia | 1 | AR CL E G H | 367 | 644 | ORPHA:481 | Kennedy disease | HP:0040281 - Very frequent | | | 125 | | |
HP:0001608 | HP:0001620 | High pitched voice | 1 | AR CL E G H | 367 | 644 | ORPHA:90797 | Partial androgen insensitivity syndrome | HP:0040283 - Occasional | | | 125 | | |
HP:0001608 | HP:0009088 | Speech articulation difficulties | 1 | ARHGAP29 CL E G H | 9411 | 30207 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | 6 | | |
HP:0001608 | HP:0001611 | Nasal speech | 1 | ARHGAP29 CL E G H | 9411 | 30207 | ORPHA:199306 | Cleft lip/palate | HP:0040283 - Occasional | | | 6 | | |
HP:0001608 | HP:0001609 | Hoarse voice | 1 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | . | | | 219 | | |
HP:0001608 | HP:0001620 | High pitched voice | 1 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | . | | | 219 | | |
HP:0001608 | HP:0001611 | Nasal speech | 1 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001608 | HP:0001686 | Loss of voice | 1 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | HP:0040284 - Very rare | | | 78 | | |
HP:0001608 | HP:0025429 | Abnormal cry | 1 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | | | | 78 | | |
HP:0001608 | HP:0001618 | Dysphonia | 1 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | HP:0040283 - Occasional | | | 78 | | |
HP:0001608 | HP:0001609 | Hoarse voice | 1 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | HP:0040281 - Very frequent | | | 78 | | |
HP:0001608 | HP:0001609 | Hoarse voice | 1 | ASAH1 CL E G H | 427 | 735 | OMIM:228000 | Farber lipogranulomatosis | | | | 78 | | |
HP:0001608 | HP:0025429 | Abnormal cry | 1 | ASPA CL E G H | 443 | 756 | ORPHA:314911 | Severe Canavan disease | | | | 48 | | |
HP:0001608 | HP:0001611 | Nasal speech | 1 | ATG7 CL E G H | 10533 | 16935 | OMIM:619422 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31 | | | | 1 | | |
HP:0001608 | HP:0025429 | Abnormal cry | 1 | ATP1A3 CL E G H | 478 | 801 | OMIM:619606 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99 | | | | 150 | | |
HP:0001608 | HP:0025429 | Abnormal cry | 1 | ATP5F1A CL E G H | 498 | 823 | OMIM:615228 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 4 | | | | | | |
HP:0001608 | HP:0001618 | Dysphonia | 1 | ATP5MC3 CL E G H | 518 | 843 | OMIM:619681 | DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG | | | | | | |
HP:0001608 | HP:0031434 | Abnormal speech prosody | 1 | ATP6 CL E G H | 4508 | 7414 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0001608 | HP:0001621 | Weak voice | 1 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:93952 | X-linked intellectual disability, Hedera type | HP:0040283 - Occasional | | | 36 | | |
HP:0001608 | HP:0001611 | Nasal speech | 1 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:278250 | Wrinkly skin syndrome | . | | | 140 | | |
HP:0001608 | HP:0001611 | Nasal speech | 1 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:2834 | Wrinkly skin syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0001608 | HP:0025429 | Abnormal cry | 1 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | | | | 169 | | |
HP:0001608 | HP:0001621 | Weak voice | 1 | ATXN2 CL E G H | 6311 | 10555 | OMIM:168600 | Parkinson disease, late-onset | . | | | 11 | | |
HP:0001608 | HP:0031801 | Vocal cord dysfunction | 1 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276238 | Machado-Joseph disease type 1 | | | | 14 | | |
HP:0001608 | HP:0031801 | Vocal cord dysfunction | 1 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276241 | Machado-Joseph disease type 2 | | | | 14 | | |
HP:0001608 | HP:0031801 | Vocal cord dysfunction | 1 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276244 | Machado-Joseph disease type 3 | | | | 14 | | |
HP:0001608 | HP:0001621 | Weak voice | 1 | ATXN8OS CL E G H | 6315 | 10561 | OMIM:168600 | Parkinson disease, late-onset | . | | | 1 | | |
HP:0001608 | HP:0001618 | Dysphonia | 1 | B4GALNT1 CL E G H | 2583 | 4117 | ORPHA:101006 | Autosomal recessive spastic paraplegia type 26 | | | | 25 | | |
HP:0001608 | HP:0001611 | Nasal speech | 1 | BAG3 CL E G H | 9531 | 939 | OMIM:612954 | Myopathy, myofibrillar, 6 | . | | | 204 | | |
HP:0001608 | HP:0001609 | Hoarse voice | 1 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001608 | HP:0001618 | Dysphonia | 1 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001608 | HP:0001618 | Dysphonia | 1 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001608 | HP:0001609 | Hoarse voice | 1 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001608 | HP:0001618 | Dysphonia | 1 | BIN1 CL E G H | 274 | 1052 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040283 - Occasional | | | 99 | | |
HP:0001608 | HP:0001618 | Dysphonia | 1 | BIN1 CL E G H | 274 | 1052 | OMIM:255200 | Myopathy, centronuclear, 2 | . | | | 99 | | |
HP:0001608 | HP:0001620 | High pitched voice | 1 | BLM CL E G H | 641 | 1058 | OMIM:210900 | Bloom syndrome | . | | | 314 | | |
HP:0001608 | HP:0001611 | Nasal speech | 1 | BMP4 CL E G H | 652 | 1071 | ORPHA:199306 | Cleft lip/palate | HP:0040283 - Occasional | | | 38 | | |
HP:0001608 | HP:0009088 | Speech articulation difficulties | 1 | BMP4 CL E G H | 652 | 1071 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | 38 | | |
HP:0001608 | HP:0010300 | Abnormally low-pitched voice | 1 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001608 | HP:0001620 | High pitched voice | 1 | BSCL2 CL E G H | 26580 | 15832 | OMIM:269700 | Lipodystrophy, congenital generalized, type 2 | . | | | 105 | | |
HP:0001608 | HP:0001618 | Dysphonia | 1 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001608 | HP:0001609 | Hoarse voice | 1 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001608 | HP:0001609 | Hoarse voice | 1 | C1R CL E G H | 715 | 1246 | OMIM:130080 | Ehlers-Danlos syndrome, periodontal type, 1 | . | | | 15 | | |
HP:0001608 | HP:0001611 | Nasal speech | 1 | CADM3 CL E G H | 57863 | 17601 | OMIM:619519 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF | | | | 1 | | |
HP:0001608 | HP:0031801 | Vocal cord dysfunction | 1 | CAMK2B CL E G H | 816 | 1461 | OMIM:617799 | Mental retardation, autosomal dominant 54 | | | | | | |
HP:0001608 | HP:0001611 | Nasal speech | 1 | CAMKMT CL E G H | 79823 | 26276 | ORPHA:163693 | 2p21 microdeletion syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001608 | HP:0001611 | Nasal speech | 1 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | | | | 34 | | |
HP:0001608 | HP:0001618 | Dysphonia | 1 | CAPN15 CL E G H | 6650 | 11182 | OMIM:619318 | OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN | | | | | | |
HP:0001608 | HP:0001618 | Dysphonia | 1 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0001608 | HP:0001609 | Hoarse voice | 1 | CDC73 CL E G H | 79577 | 16783 | ORPHA:143 | Parathyroid carcinoma | HP:0040282 - Frequent | | | 169 | |