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:0001609 | HP:0001609 | Hoarse voice | 0 | ACAN CL E G H | 176 | 319 | OMIM:612813 | Spondyloepimetaphyseal dysplasia, Aggrecan type | | | | 34 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | ACAN CL E G H | 176 | 319 | ORPHA:171866 | Spondyloepimetaphyseal dysplasia, aggrecan type | HP:0040282 - Frequent | | | 34 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 116 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | AFF2 CL E G H | 2334 | 3776 | ORPHA:100973 | FRAXE intellectual disability | HP:0040282 - Frequent | | | 59 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | AFF2 CL E G H | 2334 | 3776 | OMIM:309548 | Mental retardation, X-linked, associated with fragile site fraxe | | | | 59 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | AGA CL E G H | 175 | 318 | OMIM:208400 | ASPARTYLGLUCOSAMINURIA | . | | | 76 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | HP:0040282 - Frequent | | | 95 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | . | | | 219 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | HP:0040281 - Very frequent | | | 78 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | ASAH1 CL E G H | 427 | 735 | OMIM:228000 | Farber lipogranulomatosis | | | | 78 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | C1R CL E G H | 715 | 1246 | OMIM:130080 | Ehlers-Danlos syndrome, periodontal type, 1 | . | | | 15 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:143 | Parathyroid carcinoma | HP:0040282 - Frequent | | | 169 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | DDRGK1 CL E G H | 65992 | 16110 | OMIM:602557 | Spondyloepimetaphyseal dysplasia, Shohat type | HP:0040284 - Very rare | | | | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | DDRGK1 CL E G H | 65992 | 16110 | ORPHA:93352 | Spondyloepimetaphyseal dysplasia, Shohat type | HP:0040283 - Occasional | | | | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:226316 | Genetic transient congenital hypothyroidism | | | | 121 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | ECM1 CL E G H | 1893 | 3153 | ORPHA:530 | Lipoid proteinosis | HP:0040281 - Very frequent | | | 14 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | ECM1 CL E G H | 1893 | 3153 | OMIM:247100 | Urbach-Wiethe disease | | | | 14 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | . | | | 115 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | EED CL E G H | 8726 | 3188 | ORPHA:3447 | Weaver syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 172 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | EZH2 CL E G H | 2146 | 3527 | ORPHA:3447 | Weaver syndrome | HP:0040281 - Very frequent | | | 81 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | | | | 81 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:969 | Acromicric dysplasia | HP:0040283 - Occasional | | | 1361 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:102370 | Acromicric dysplasia | . | | | 1361 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:309350 | Melnick-Needles syndrome | . | | | 493 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:101097 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | | | | 108 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99948 | Charcot-Marie-Tooth disease type 4A | | | | 108 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | GDAP1 CL E G H | 54332 | 15968 | OMIM:607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive | | | | 108 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | GNE CL E G H | 10020 | 23657 | ORPHA:3166 | Sialuria | HP:0040281 - Very frequent | | | 173 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | . | | | 240 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | HP:0040281 - Very frequent | | | 240 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040283 - Occasional | | | 73 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:2662 | Keipert syndrome | HP:0040282 - Frequent | | | | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040283 - Occasional | | | | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | HP:0040282 - Frequent | | | 5 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | HACD1 CL E G H | 9200 | 9639 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | . | | | 113 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217093 | Mucopolysaccharidosis type 2, attenuated form | HP:0040282 - Frequent | | | 86 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217085 | Mucopolysaccharidosis type 2, severe form | HP:0040282 - Frequent | | | 86 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | . | | | 86 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 28 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:217377 | Microduplication Xp11.22p11.23 syndrome | HP:0040282 - Frequent | | | 119 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 119 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | ITGA7 CL E G H | 3679 | 6143 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 127 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | HP:0040283 - Occasional | | | 110 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | KRT14 CL E G H | 3861 | 6416 | OMIM:131760 | Epidermolysis bullosa simplex, Dowling-Meara type | | | | 110 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | KRT16 CL E G H | 3868 | 6423 | ORPHA:2309 | Pachyonychia congenita | HP:0040284 - Very rare | | | 27 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | KRT17 CL E G H | 3872 | 6427 | ORPHA:2309 | Pachyonychia congenita | HP:0040284 - Very rare | | | 23 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | KRT17 CL E G H | 3872 | 6427 | OMIM:167210 | Pachyonychia congenita 2 | . | | | 23 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | HP:0040283 - Occasional | | | 173 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | KRT5 CL E G H | 3852 | 6442 | OMIM:131760 | Epidermolysis bullosa simplex, Dowling-Meara type | | | | 173 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | KRT6A CL E G H | 3853 | 6443 | ORPHA:2309 | Pachyonychia congenita | HP:0040284 - Very rare | | | 41 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | KRT6B CL E G H | 3854 | 6444 | ORPHA:2309 | Pachyonychia congenita | HP:0040284 - Very rare | | | 4 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | LAMA3 CL E G H | 3909 | 6483 | OMIM:245660 | Laryngoonychocutaneous syndrome | | | | 116 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 116 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 167 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 135 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:1306 | Buschke-Ollendorff syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | LEMD3 CL E G H | 23592 | 28887 | OMIM:166700 | Buschke-Ollendorff syndrome | . | | | 68 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | LIFR CL E G H | 3977 | 6597 | OMIM:601559 | Stuve-Wiedemann syndrome | . | | | 144 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | LTBP3 CL E G H | 4054 | 6716 | ORPHA:969 | Acromicric dysplasia | HP:0040283 - Occasional | | | 12 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | LTBP3 CL E G H | 4054 | 6716 | OMIM:617809 | Geleophysic dysplasia 3 | . | | | 12 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | MATR3 CL E G H | 9782 | 6912 | OMIM:606070 | Amyotrophic lateral sclerosis 21 | . | | | 80 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | MATR3 CL E G H | 9782 | 6912 | ORPHA:600 | Vocal cord and pharyngeal distal myopathy | HP:0040282 - Frequent | | | 80 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | MFN2 CL E G H | 9927 | 16877 | ORPHA:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | HP:0040283 - Occasional | | | 203 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | MID1 CL E G H | 4281 | 7095 | OMIM:300000 | Opitz gbbb syndrome, type I | | | | 57 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | MYH14 CL E G H | 79784 | 23212 | OMIM:614369 | Peripheral neuropathy, myopathy, hoarseness, and hearing loss | | | | 227 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | MYH14 CL E G H | 79784 | 23212 | ORPHA:397744 | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | HP:0040282 - Frequent | | | 227 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | MYL2 CL E G H | 4633 | 7583 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 131 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | NFE2L2 CL E G H | 4780 | 7782 | OMIM:617744 | Immunodeficiency, developmental delay, and hypohomocysteinemia | | | | 20 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | NLRP1 CL E G H | 22861 | 14374 | OMIM:618803 | RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL; JRRP | | | | 37 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:3447 | Weaver syndrome | HP:0040281 - Very frequent | | | 544 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | PAX8 CL E G H | 7849 | 8622 | OMIM:218700 | Hypothyroidism, congenital, nongoitrous, 2 | | | | 63 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | | | | 37 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | POU1F1 CL E G H | 5449 | 9210 | OMIM:613038 | Pituitary hormone deficiency, combined, 1 | | | | 36 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | PPP3CA CL E G H | 5530 | 9314 | OMIM:617711 | Epileptic encephalopathy, infantile or early childhood, 1 | | | | 2 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | RAI1 CL E G H | 10743 | 9834 | OMIM:182290 | Smith-Magenis syndrome | | | | 150 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 150 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | SDHAF2 CL E G H | 54949 | 26034 | OMIM:601650 | Paragangliomas 2 | . | | | 55 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | SDHC CL E G H | 6391 | 10682 | OMIM:605373 | Paragangliomas 3 | . | | | 147 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | SDHD CL E G H | 6392 | 10683 | OMIM:168000 | Paragangliomas 1 | . | | | 129 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | SELENON CL E G H | 57190 | 15999 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 144 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | SERPING1 CL E G H | 710 | 1228 | ORPHA:100050 | Hereditary angioedema type 1 | HP:0040283 - Occasional | | | 64 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | SHOC2 CL E G H | 8036 | 15454 | OMIM:607721 | Noonan syndrome-like with loose anagen hair 1 | | | | 74 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | SLC19A2 CL E G H | 10560 | 10938 | OMIM:249270 | Thiamine-Responsive megaloblastic anemia syndrome | . | | | 55 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:222600 | Diastrophic dysplasia | . | | | 166 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | SMS CL E G H | 6611 | 11123 | OMIM:309583 | Mental retardation, X-linked, syndromic, Snyder-Robinson type | | | | 19 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | SPART CL E G H | 23111 | 18514 | ORPHA:101000 | Autosomal recessive spastic paraplegia type 20 | HP:0040283 - Occasional | | | 66 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | SUZ12 CL E G H | 23512 | 17101 | ORPHA:3447 | Weaver syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | TBC1D2B CL E G H | 23102 | 29183 | ORPHA:397973 | Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome | HP:0040283 - Occasional | | | | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | THRA CL E G H | 7067 | 11796 | OMIM:614450 | Hypothyroidism, congenital, nongoitrous, 6 | . | | | 9 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | TLK2 CL E G H | 11011 | 11842 | OMIM:618050 | Mental retardation, autosomal dominant 57 | | | | 1 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 56 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | TRH CL E G H | 7200 | 12298 | OMIM:275120 | Thyrotropin-Releasing hormone deficiency | . | | | 5 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | TRHR CL E G H | 7201 | 12299 | ORPHA:99832 | Resistance to thyrotropin-releasing hormone syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:181405 | Scapuloperoneal spinal muscular atrophy | . | | | 214 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | TSHB CL E G H | 7252 | 12372 | OMIM:275100 | Hypothyroidism, congenital, nongoitrous, 4 | | | | 9 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | TSHB CL E G H | 7252 | 12372 | ORPHA:90674 | Isolated thyroid-stimulating hormone deficiency | HP:0040282 - Frequent | | | 9 | | |
HP:0001609 | HP:0001609 | Hoarse voice | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001609 | HP:0001615 | Hoarse cry | 1 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | HP:0040282 - Frequent | | | 78 | | |
HP:0001609 | HP:0001615 | Hoarse cry | 1 | ASAH1 CL E G H | 427 | 735 | OMIM:228000 | Farber lipogranulomatosis | . | | | 78 | | |
HP:0001609 | HP:0001615 | Hoarse cry | 1 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0001609 | HP:0001615 | Hoarse cry | 1 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:226316 | Genetic transient congenital hypothyroidism | HP:0040283 - Occasional | | | 121 | | |
HP:0001609 | HP:0001615 | Hoarse cry | 1 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | | | | 81 | | |
HP:0001609 | HP:0001615 | Hoarse cry | 1 | KRT14 CL E G H | 3861 | 6416 | OMIM:131760 | Epidermolysis bullosa simplex, Dowling-Meara type | | | | 110 | | |
HP:0001609 | HP:0001615 | Hoarse cry | 1 | KRT5 CL E G H | 3852 | 6442 | OMIM:131760 | Epidermolysis bullosa simplex, Dowling-Meara type | | | | 173 | | |
HP:0001609 | HP:0001615 | Hoarse cry | 1 | LAMA3 CL E G H | 3909 | 6483 | OMIM:245660 | Laryngoonychocutaneous syndrome | . | | | 116 | | |
HP:0001609 | HP:0001615 | Hoarse cry | 1 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 116 | | |
HP:0001609 | HP:0001615 | Hoarse cry | 1 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 167 | | |
HP:0001609 | HP:0001615 | Hoarse cry | 1 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 135 | | |
HP:0001609 | HP:0001615 | Hoarse cry | 1 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0001609 | HP:0001615 | Hoarse cry | 1 | PAX8 CL E G H | 7849 | 8622 | OMIM:218700 | Hypothyroidism, congenital, nongoitrous, 2 | . | | | 63 | | |
HP:0001609 | HP:0001615 | Hoarse cry | 1 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0001609 | HP:0001615 | Hoarse cry | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0001609 | HP:0001615 | Hoarse cry | 1 | TSHB CL E G H | 7252 | 12372 | OMIM:275100 | Hypothyroidism, congenital, nongoitrous, 4 | . | | | 9 | | |
HP:0001609 | HP:0001615 | Hoarse cry | 1 | TSHB CL E G H | 7252 | 12372 | ORPHA:90674 | Isolated thyroid-stimulating hormone deficiency | HP:0040282 - Frequent | | | 9 | | |