Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0010307 | HP:0010307 | Stridor | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 127 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | AGTPBP1 CL E G H | 23287 | 17258 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 1 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 65 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 6 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:227510 | Multiple system atrophy, cerebellar type | HP:0040282 - Frequent | | | 54 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:98933 | Multiple system atrophy, parkinsonian type | HP:0040282 - Frequent | | | 54 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | CTSK CL E G H | 1513 | 2536 | ORPHA:763 | Pycnodysostosis | | | | 39 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | D2HGDH CL E G H | 728294 | 28358 | OMIM:600721 | D-2-Hydroxyglutaric aciduria 1 | | | | 102 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | DST CL E G H | 667 | 1090 | OMIM:614653 | Neuropathy, hereditary sensory and autonomic, type VI | | | | 108 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | EXOSC3 CL E G H | 51010 | 17944 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 38 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | EXOSC8 CL E G H | 11340 | 17035 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 4 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | EXOSC9 CL E G H | 5393 | 9137 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | | | |
HP:0010307 | HP:0010307 | Stridor | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:305620 | Frontometaphyseal dysplasia | . | | | 493 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | FUZ CL E G H | 80199 | 26219 | ORPHA:1136 | Arnold-Chiari malformation type II | | | | 3 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | GNB1 CL E G H | 2782 | 4396 | OMIM:616973 | Mental retardation, autosomal dominant 42 | | | | 12 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | HP:0040283 - Occasional | | | 240 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | GTPBP3 CL E G H | 84705 | 14880 | ORPHA:444013 | Combined oxidative phosphorylation defect type 23 | HP:0040283 - Occasional | | | 30 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | IGHMBP2 CL E G H | 3508 | 5542 | OMIM:604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | | | | 209 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:619574 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH | | | | 257 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | KIF22 CL E G H | 3835 | 6391 | ORPHA:93360 | Spondyloepimetaphyseal dysplasia with multiple dislocations | | | | 14 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 116 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 167 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 135 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | LYRM4 CL E G H | 57128 | 21365 | OMIM:615595 | Combined oxidative phosphorylation deficiency 19 | | | | 4 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:617137 | Frontometaphyseal dysplasia 2 | . | | | 11 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | MID1 CL E G H | 4281 | 7095 | ORPHA:2745 | Opitz GBBB syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | MIR140 CL E G H | 406932 | 31527 | OMIM:618618 | SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN | | | | | | |
HP:0010307 | HP:0010307 | Stridor | 0 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | | | |
HP:0010307 | HP:0010307 | Stridor | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | | | | 40 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | PAX8 CL E G H | 7849 | 8622 | OMIM:218700 | Hypothyroidism, congenital, nongoitrous, 2 | . | | | 63 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | PLP1 CL E G H | 5354 | 9086 | OMIM:312080 | Pelizaeus-Merzbacher disease | | | | 60 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | . | | | 11 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:99734 | Myotonia fluctuans | HP:0040284 - Very rare | | | 263 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | SCN4A CL E G H | 6329 | 10591 | OMIM:608390 | Myotonia, potassium-aggravated | . | | | 263 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:684 | Paramyotonia congenita of Von Eulenburg | | | | 263 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | SCN4A CL E G H | 6329 | 10591 | OMIM:168300 | Paramyotonia congenita of von eulenburg | | | | 263 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | SCO2 CL E G H | 9997 | 10604 | OMIM:604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | | | | 40 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | SERPING1 CL E G H | 710 | 1228 | ORPHA:100050 | Hereditary angioedema type 1 | | | | 64 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | SLC18A2 CL E G H | 6571 | 10935 | ORPHA:352649 | Brain dopamine-serotonin vesicular transport disease | HP:0040281 - Very frequent | | | 2 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 2 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | SLC25A1 CL E G H | 6576 | 10979 | OMIM:615182 | Combined d-2- and l-2-hydroxyglutaric aciduria | . | | | 28 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 28 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | SLC25A46 CL E G H | 91137 | 25198 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 14 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | SLC52A3 CL E G H | 113278 | 16187 | OMIM:211530 | Brown-Vialetto-Van laere syndrome 1 | . | | | 51 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | SLC52A3 CL E G H | 113278 | 16187 | OMIM:211500 | Bulbar palsy, progressive, of childhood | | | | 51 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | SLC5A7 CL E G H | 60482 | 14025 | OMIM:617143 | Myasthenic syndrome, congenital, 20, presynaptic | . | | | 9 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 9 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 2 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 4 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606071 | Hereditary motor and sensory neuropathy, type IIC | . | | | 214 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:181405 | Scapuloperoneal spinal muscular atrophy | . | | | 214 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | TSPYL1 CL E G H | 7259 | 12382 | OMIM:608800 | Sudden infant death with dysgenesis of the testes syndrome | . | | | 1 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 2 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | VPS33A CL E G H | 65082 | 18179 | ORPHA:505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | HP:0040283 - Occasional | | | 1 | | |
HP:0010307 | HP:0010307 | Stridor | 0 | VRK1 CL E G H | 7443 | 12718 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 32 | | |
HP:0010307 | HP:0005348 | Inspiratory stridor | 1 | AGTPBP1 CL E G H | 23287 | 17258 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 1 | | |
HP:0010307 | HP:0005348 | Inspiratory stridor | 1 | D2HGDH CL E G H | 728294 | 28358 | OMIM:600721 | D-2-Hydroxyglutaric aciduria 1 | . | | | 102 | | |
HP:0010307 | HP:0005348 | Inspiratory stridor | 1 | EXOSC3 CL E G H | 51010 | 17944 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 38 | | |
HP:0010307 | HP:0005348 | Inspiratory stridor | 1 | EXOSC8 CL E G H | 11340 | 17035 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 4 | | |
HP:0010307 | HP:0005348 | Inspiratory stridor | 1 | EXOSC9 CL E G H | 5393 | 9137 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | | | |
HP:0010307 | HP:0005348 | Inspiratory stridor | 1 | FUZ CL E G H | 80199 | 26219 | ORPHA:1136 | Arnold-Chiari malformation type II | HP:0040283 - Occasional | | | 3 | | |
HP:0010307 | HP:0005348 | Inspiratory stridor | 1 | IGHMBP2 CL E G H | 3508 | 5542 | OMIM:604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | . | | | 209 | | |
HP:0010307 | HP:0005348 | Inspiratory stridor | 1 | KIF22 CL E G H | 3835 | 6391 | ORPHA:93360 | Spondyloepimetaphyseal dysplasia with multiple dislocations | | | | 14 | | |
HP:0010307 | HP:0005348 | Inspiratory stridor | 1 | MIR140 CL E G H | 406932 | 31527 | OMIM:618618 | SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN | | | | | | |
HP:0010307 | HP:0005348 | Inspiratory stridor | 1 | PLP1 CL E G H | 5354 | 9086 | OMIM:312080 | Pelizaeus-Merzbacher disease | | | | 60 | | |
HP:0010307 | HP:0005348 | Inspiratory stridor | 1 | SCN4A CL E G H | 6329 | 10591 | OMIM:168300 | Paramyotonia congenita of von eulenburg | . | HP:0003621 - Juvenile onset | | 263 | | |
HP:0010307 | HP:0005348 | Inspiratory stridor | 1 | SCN4A CL E G H | 6329 | 10591 | ORPHA:684 | Paramyotonia congenita of Von Eulenburg | | | | 263 | | |
HP:0010307 | HP:0005348 | Inspiratory stridor | 1 | SCO2 CL E G H | 9997 | 10604 | OMIM:604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | | | | 40 | | |
HP:0010307 | HP:0005348 | Inspiratory stridor | 1 | SERPING1 CL E G H | 710 | 1228 | ORPHA:100050 | Hereditary angioedema type 1 | HP:0040283 - Occasional | | | 64 | | |
HP:0010307 | HP:0005348 | Inspiratory stridor | 1 | SLC25A46 CL E G H | 91137 | 25198 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 14 | | |
HP:0010307 | HP:0005348 | Inspiratory stridor | 1 | SLC52A3 CL E G H | 113278 | 16187 | OMIM:211500 | Bulbar palsy, progressive, of childhood | | | | 51 | | |
HP:0010307 | HP:0005348 | Inspiratory stridor | 1 | VRK1 CL E G H | 7443 | 12718 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 32 | | |
HP:0010307 | HP:0004886 | Congenital laryngeal stridor | 2 | AGTPBP1 CL E G H | 23287 | 17258 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 1 | | |
HP:0010307 | HP:0004886 | Congenital laryngeal stridor | 2 | EXOSC3 CL E G H | 51010 | 17944 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 38 | | |
HP:0010307 | HP:0004886 | Congenital laryngeal stridor | 2 | EXOSC8 CL E G H | 11340 | 17035 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 4 | | |
HP:0010307 | HP:0004886 | Congenital laryngeal stridor | 2 | EXOSC9 CL E G H | 5393 | 9137 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | | | |
HP:0010307 | HP:0004875 | Neonatal inspiratory stridor | 2 | KIF22 CL E G H | 3835 | 6391 | ORPHA:93360 | Spondyloepimetaphyseal dysplasia with multiple dislocations | HP:0040283 - Occasional | | | 14 | | |
HP:0010307 | HP:0004886 | Congenital laryngeal stridor | 2 | PLP1 CL E G H | 5354 | 9086 | OMIM:312080 | Pelizaeus-Merzbacher disease | | | | 60 | | |
HP:0010307 | HP:0004875 | Neonatal inspiratory stridor | 2 | SCN4A CL E G H | 6329 | 10591 | ORPHA:684 | Paramyotonia congenita of Von Eulenburg | HP:0040282 - Frequent | | | 263 | | |
HP:0010307 | HP:0004886 | Congenital laryngeal stridor | 2 | SLC25A46 CL E G H | 91137 | 25198 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 14 | | |
HP:0010307 | HP:0005951 | Progressive inspiratory stridor | 2 | SLC52A3 CL E G H | 113278 | 16187 | OMIM:211500 | Bulbar palsy, progressive, of childhood | . | | | 51 | | |
HP:0010307 | HP:0004886 | Congenital laryngeal stridor | 2 | VRK1 CL E G H | 7443 | 12718 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 32 | | |