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:0005348 | HP:0005348 | Inspiratory stridor | 0 | AGTPBP1 CL E G H | 23287 | 17258 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 1 | | |
HP:0005348 | HP:0005348 | Inspiratory stridor | 0 | D2HGDH CL E G H | 728294 | 28358 | OMIM:600721 | D-2-Hydroxyglutaric aciduria 1 | . | | | 102 | | |
HP:0005348 | HP:0005348 | Inspiratory stridor | 0 | EXOSC3 CL E G H | 51010 | 17944 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 38 | | |
HP:0005348 | HP:0005348 | Inspiratory stridor | 0 | EXOSC8 CL E G H | 11340 | 17035 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 4 | | |
HP:0005348 | HP:0005348 | Inspiratory stridor | 0 | EXOSC9 CL E G H | 5393 | 9137 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | | | |
HP:0005348 | HP:0005348 | Inspiratory stridor | 0 | FUZ CL E G H | 80199 | 26219 | ORPHA:1136 | Arnold-Chiari malformation type II | HP:0040283 - Occasional | | | 3 | | |
HP:0005348 | HP:0005348 | Inspiratory stridor | 0 | IGHMBP2 CL E G H | 3508 | 5542 | OMIM:604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | . | | | 209 | | |
HP:0005348 | HP:0005348 | Inspiratory stridor | 0 | KIF22 CL E G H | 3835 | 6391 | ORPHA:93360 | Spondyloepimetaphyseal dysplasia with multiple dislocations | | | | 14 | | |
HP:0005348 | HP:0005348 | Inspiratory stridor | 0 | MIR140 CL E G H | 406932 | 31527 | OMIM:618618 | SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN | | | | | | |
HP:0005348 | HP:0005348 | Inspiratory stridor | 0 | PLP1 CL E G H | 5354 | 9086 | OMIM:312080 | Pelizaeus-Merzbacher disease | | | | 60 | | |
HP:0005348 | HP:0005348 | Inspiratory stridor | 0 | SCN4A CL E G H | 6329 | 10591 | OMIM:168300 | Paramyotonia congenita of von eulenburg | . | HP:0003621 - Juvenile onset | | 263 | | |
HP:0005348 | HP:0005348 | Inspiratory stridor | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:684 | Paramyotonia congenita of Von Eulenburg | | | | 263 | | |
HP:0005348 | HP:0005348 | Inspiratory stridor | 0 | SCO2 CL E G H | 9997 | 10604 | OMIM:604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | | | | 40 | | |
HP:0005348 | HP:0005348 | Inspiratory stridor | 0 | SERPING1 CL E G H | 710 | 1228 | ORPHA:100050 | Hereditary angioedema type 1 | HP:0040283 - Occasional | | | 64 | | |
HP:0005348 | HP:0005348 | Inspiratory stridor | 0 | SLC25A46 CL E G H | 91137 | 25198 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 14 | | |
HP:0005348 | HP:0005348 | Inspiratory stridor | 0 | SLC52A3 CL E G H | 113278 | 16187 | OMIM:211500 | Bulbar palsy, progressive, of childhood | | | | 51 | | |
HP:0005348 | HP:0005348 | Inspiratory stridor | 0 | VRK1 CL E G H | 7443 | 12718 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 32 | | |
HP:0005348 | HP:0004886 | Congenital laryngeal stridor | 1 | AGTPBP1 CL E G H | 23287 | 17258 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 1 | | |
HP:0005348 | HP:0004886 | Congenital laryngeal stridor | 1 | EXOSC3 CL E G H | 51010 | 17944 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 38 | | |
HP:0005348 | HP:0004886 | Congenital laryngeal stridor | 1 | EXOSC8 CL E G H | 11340 | 17035 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 4 | | |
HP:0005348 | HP:0004886 | Congenital laryngeal stridor | 1 | EXOSC9 CL E G H | 5393 | 9137 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | | | |
HP:0005348 | HP:0004875 | Neonatal inspiratory stridor | 1 | KIF22 CL E G H | 3835 | 6391 | ORPHA:93360 | Spondyloepimetaphyseal dysplasia with multiple dislocations | HP:0040283 - Occasional | | | 14 | | |
HP:0005348 | HP:0004886 | Congenital laryngeal stridor | 1 | PLP1 CL E G H | 5354 | 9086 | OMIM:312080 | Pelizaeus-Merzbacher disease | | | | 60 | | |
HP:0005348 | HP:0004875 | Neonatal inspiratory stridor | 1 | SCN4A CL E G H | 6329 | 10591 | ORPHA:684 | Paramyotonia congenita of Von Eulenburg | HP:0040282 - Frequent | | | 263 | | |
HP:0005348 | HP:0004886 | Congenital laryngeal stridor | 1 | SLC25A46 CL E G H | 91137 | 25198 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 14 | | |
HP:0005348 | HP:0005951 | Progressive inspiratory stridor | 1 | SLC52A3 CL E G H | 113278 | 16187 | OMIM:211500 | Bulbar palsy, progressive, of childhood | . | | | 51 | | |
HP:0005348 | HP:0004886 | Congenital laryngeal stridor | 1 | VRK1 CL E G H | 7443 | 12718 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 32 | | |