Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal respiratory system physiology (HP:0002795)help
Parent Node:
expand
Abnormal breath sound (HP:0030829)help
..Starting node
..expand
Stridor (HP:0010307)help
Term ID: 10307
Name: Stridor
Synonym: Noisy breathing
Definition: Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.
Comments:
Reference: HP:0010307
Genes and Diseases:
 
       Child Nodes:
........expandInspiratory stridor (HP:0005348) help
................... HP:0004875 Neonatal inspiratory stridor
................... HP:0004886 Congenital laryngeal stridor
................... HP:0005951 Progressive inspiratory stridor

 Sister Nodes: 
..expandCrackles (HP:0030830) help
..expandRhonchi (HP:0030831) help
..expandWheezing (HP:0030828) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010307HP:0010307Stridor0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional127
HP:0010307HP:0010307Stridor0AGTPBP1 CL E G H2328717258ORPHA:2254Pontocerebellar hypoplasia type 11
HP:0010307HP:0010307Stridor0CACNA1C CL E G H7751390OMIM:620029572
HP:0010307HP:0010307Stridor0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional65
HP:0010307HP:0010307Stridor0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional6
HP:0010307HP:0010307Stridor0COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar typeHP:0040282 - Frequent54
HP:0010307HP:0010307Stridor0COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian typeHP:0040282 - Frequent54
HP:0010307HP:0010307Stridor0CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0010307HP:0010307Stridor0D2HGDH CL E G H72829428358OMIM:600721D-2-Hydroxyglutaric aciduria 1102
HP:0010307HP:0010307Stridor0DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI108
HP:0010307HP:0010307Stridor0EXOSC3 CL E G H5101017944ORPHA:2254Pontocerebellar hypoplasia type 138
HP:0010307HP:0010307Stridor0EXOSC8 CL E G H1134017035ORPHA:2254Pontocerebellar hypoplasia type 14
HP:0010307HP:0010307Stridor0EXOSC9 CL E G H53939137ORPHA:2254Pontocerebellar hypoplasia type 1
HP:0010307HP:0010307Stridor0FLNA CL E G H23163754OMIM:305620Frontometaphyseal dysplasia.493
HP:0010307HP:0010307Stridor0FUZ CL E G H8019926219ORPHA:1136Arnold-Chiari malformation type II3
HP:0010307HP:0010307Stridor0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0010307HP:0010307Stridor0GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type IIHP:0040283 - Occasional240
HP:0010307HP:0010307Stridor0GTPBP3 CL E G H8470514880ORPHA:444013Combined oxidative phosphorylation defect type 23HP:0040283 - Occasional30
HP:0010307HP:0010307Stridor0IGHMBP2 CL E G H35085542OMIM:604320Spinal muscular atrophy, distal, autosomal recessive, 1209
HP:0010307HP:0010307Stridor0JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0010307HP:0010307Stridor0KIF22 CL E G H38356391ORPHA:93360Spondyloepimetaphyseal dysplasia with multiple dislocations14
HP:0010307HP:0010307Stridor0LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040282 - Frequent116
HP:0010307HP:0010307Stridor0LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040282 - Frequent167
HP:0010307HP:0010307Stridor0LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040282 - Frequent135
HP:0010307HP:0010307Stridor0LYRM4 CL E G H5712821365OMIM:615595Combined oxidative phosphorylation deficiency 194
HP:0010307HP:0010307Stridor0MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 2.11
HP:0010307HP:0010307Stridor0MID1 CL E G H42817095ORPHA:2745Opitz GBBB syndromeHP:0040283 - Occasional57
HP:0010307HP:0010307Stridor0MIR140 CL E G H40693231527OMIM:618618SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN
HP:0010307HP:0010307Stridor0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional
HP:0010307HP:0010307Stridor0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0010307HP:0010307Stridor0PAX8 CL E G H78498622OMIM:218700Hypothyroidism, congenital, nongoitrous, 2.63
HP:0010307HP:0010307Stridor0PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0010307HP:0010307Stridor0SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome.11
HP:0010307HP:0010307Stridor0SCN4A CL E G H632910591ORPHA:99734Myotonia fluctuansHP:0040284 - Very rare263
HP:0010307HP:0010307Stridor0SCN4A CL E G H632910591OMIM:608390Myotonia, potassium-aggravated.263
HP:0010307HP:0010307Stridor0SCN4A CL E G H632910591ORPHA:684Paramyotonia congenita of Von Eulenburg263
HP:0010307HP:0010307Stridor0SCN4A CL E G H632910591OMIM:168300Paramyotonia congenita of von eulenburg263
HP:0010307HP:0010307Stridor0SCO2 CL E G H999710604OMIM:604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 140
HP:0010307HP:0010307Stridor0SERPING1 CL E G H7101228ORPHA:100050Hereditary angioedema type 164
HP:0010307HP:0010307Stridor0SLC18A2 CL E G H657110935ORPHA:352649Brain dopamine-serotonin vesicular transport diseaseHP:0040281 - Very frequent2
HP:0010307HP:0010307Stridor0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional2
HP:0010307HP:0010307Stridor0SLC25A1 CL E G H657610979OMIM:615182Combined d-2- and l-2-hydroxyglutaric aciduria.28
HP:0010307HP:0010307Stridor0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional28
HP:0010307HP:0010307Stridor0SLC25A46 CL E G H9113725198ORPHA:2254Pontocerebellar hypoplasia type 114
HP:0010307HP:0010307Stridor0SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 1.51
HP:0010307HP:0010307Stridor0SLC52A3 CL E G H11327816187OMIM:211500Bulbar palsy, progressive, of childhood51
HP:0010307HP:0010307Stridor0SLC5A7 CL E G H6048214025OMIM:617143Myasthenic syndrome, congenital, 20, presynaptic.9
HP:0010307HP:0010307Stridor0SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional9
HP:0010307HP:0010307Stridor0SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional2
HP:0010307HP:0010307Stridor0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0010307HP:0010307Stridor0SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional4
HP:0010307HP:0010307Stridor0TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC.214
HP:0010307HP:0010307Stridor0TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy.214
HP:0010307HP:0010307Stridor0TSPYL1 CL E G H725912382OMIM:608800Sudden infant death with dysgenesis of the testes syndrome.1
HP:0010307HP:0010307Stridor0VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional2
HP:0010307HP:0010307Stridor0VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disordersHP:0040283 - Occasional1
HP:0010307HP:0010307Stridor0VRK1 CL E G H744312718ORPHA:2254Pontocerebellar hypoplasia type 132
HP:0010307HP:0005348Inspiratory stridor1AGTPBP1 CL E G H2328717258ORPHA:2254Pontocerebellar hypoplasia type 11
HP:0010307HP:0005348Inspiratory stridor1D2HGDH CL E G H72829428358OMIM:600721D-2-Hydroxyglutaric aciduria 1.102
HP:0010307HP:0005348Inspiratory stridor1EXOSC3 CL E G H5101017944ORPHA:2254Pontocerebellar hypoplasia type 138
HP:0010307HP:0005348Inspiratory stridor1EXOSC8 CL E G H1134017035ORPHA:2254Pontocerebellar hypoplasia type 14
HP:0010307HP:0005348Inspiratory stridor1EXOSC9 CL E G H53939137ORPHA:2254Pontocerebellar hypoplasia type 1
HP:0010307HP:0005348Inspiratory stridor1FUZ CL E G H8019926219ORPHA:1136Arnold-Chiari malformation type IIHP:0040283 - Occasional3
HP:0010307HP:0005348Inspiratory stridor1IGHMBP2 CL E G H35085542OMIM:604320Spinal muscular atrophy, distal, autosomal recessive, 1.209
HP:0010307HP:0005348Inspiratory stridor1KIF22 CL E G H38356391ORPHA:93360Spondyloepimetaphyseal dysplasia with multiple dislocations14
HP:0010307HP:0005348Inspiratory stridor1MIR140 CL E G H40693231527OMIM:618618SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN
HP:0010307HP:0005348Inspiratory stridor1PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0010307HP:0005348Inspiratory stridor1SCN4A CL E G H632910591OMIM:168300Paramyotonia congenita of von eulenburg.HP:0003621 - Juvenile onset263
HP:0010307HP:0005348Inspiratory stridor1SCN4A CL E G H632910591ORPHA:684Paramyotonia congenita of Von Eulenburg263
HP:0010307HP:0005348Inspiratory stridor1SCO2 CL E G H999710604OMIM:604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 140
HP:0010307HP:0005348Inspiratory stridor1SERPING1 CL E G H7101228ORPHA:100050Hereditary angioedema type 1HP:0040283 - Occasional64
HP:0010307HP:0005348Inspiratory stridor1SLC25A46 CL E G H9113725198ORPHA:2254Pontocerebellar hypoplasia type 114
HP:0010307HP:0005348Inspiratory stridor1SLC52A3 CL E G H11327816187OMIM:211500Bulbar palsy, progressive, of childhood51
HP:0010307HP:0005348Inspiratory stridor1VRK1 CL E G H744312718ORPHA:2254Pontocerebellar hypoplasia type 132
HP:0010307HP:0004886Congenital laryngeal stridor2AGTPBP1 CL E G H2328717258ORPHA:2254Pontocerebellar hypoplasia type 11
HP:0010307HP:0004886Congenital laryngeal stridor2EXOSC3 CL E G H5101017944ORPHA:2254Pontocerebellar hypoplasia type 138
HP:0010307HP:0004886Congenital laryngeal stridor2EXOSC8 CL E G H1134017035ORPHA:2254Pontocerebellar hypoplasia type 14
HP:0010307HP:0004886Congenital laryngeal stridor2EXOSC9 CL E G H53939137ORPHA:2254Pontocerebellar hypoplasia type 1
HP:0010307HP:0004875Neonatal inspiratory stridor2KIF22 CL E G H38356391ORPHA:93360Spondyloepimetaphyseal dysplasia with multiple dislocationsHP:0040283 - Occasional14
HP:0010307HP:0004886Congenital laryngeal stridor2PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0010307HP:0004875Neonatal inspiratory stridor2SCN4A CL E G H632910591ORPHA:684Paramyotonia congenita of Von EulenburgHP:0040282 - Frequent263
HP:0010307HP:0004886Congenital laryngeal stridor2SLC25A46 CL E G H9113725198ORPHA:2254Pontocerebellar hypoplasia type 114
HP:0010307HP:0005951Progressive inspiratory stridor2SLC52A3 CL E G H11327816187OMIM:211500Bulbar palsy, progressive, of childhood.51
HP:0010307HP:0004886Congenital laryngeal stridor2VRK1 CL E G H744312718ORPHA:2254Pontocerebellar hypoplasia type 132


Genes (49) :AGRN AGTPBP1 CACNA1C CHAT COL13A1 COQ2 CTSK D2HGDH DST EXOSC3 EXOSC8 EXOSC9 FLNA FUZ GNB1 GNPTAB GTPBP3 IGHMBP2 JAG1 KIF22 LAMA3 LAMB3 LAMC2 LYRM4 MAP3K7 MID1 MIR140 MYO9A NFIX PAX8 PLP1 SCARF2 SCN4A SCO2 SERPING1 SLC18A2 SLC18A3 SLC25A1 SLC25A46 SLC52A3 SLC5A7 SNAP25 SOX9 SYT2 TRPV4 TSPYL1 VAMP1 VPS33A VRK1

Diseases (41) :ORPHA:98914 ORPHA:2254 OMIM:620029 ORPHA:227510 ORPHA:98933 ORPHA:763 OMIM:600721 OMIM:614653 OMIM:305620 ORPHA:1136 OMIM:616973 ORPHA:576 ORPHA:444013 OMIM:604320 OMIM:619574 ORPHA:93360 ORPHA:79404 OMIM:615595 OMIM:617137 ORPHA:2745 OMIM:618618 OMIM:602535 OMIM:218700 OMIM:312080 OMIM:600920 ORPHA:99734 OMIM:608390 ORPHA:684 OMIM:168300 OMIM:604377 ORPHA:100050 ORPHA:352649 OMIM:615182 OMIM:211530 OMIM:211500 OMIM:617143 OMIM:114290 OMIM:606071 OMIM:181405 OMIM:608800 ORPHA:505248
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.