Human Phenotype Ontology 
Grandparent Node:
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Abnormal breath sound (HP:0030829)help
Parent Node:
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Stridor (HP:0010307)help
..Starting node
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Inspiratory stridor (HP:0005348)help
Term ID: 5348
Name: Inspiratory stridor
Synonym:
Definition: Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities.
Comments:
Reference: HP:0005348
Genes and Diseases:
 
       Child Nodes:
........expandNeonatal inspiratory stridor (HP:0004875) help
........expandCongenital laryngeal stridor (HP:0004886) help
........expandProgressive inspiratory stridor (HP:0005951) help

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005348HP:0005348Inspiratory stridor0AGTPBP1 CL E G H2328717258ORPHA:2254Pontocerebellar hypoplasia type 11
HP:0005348HP:0005348Inspiratory stridor0D2HGDH CL E G H72829428358OMIM:600721D-2-Hydroxyglutaric aciduria 1.102
HP:0005348HP:0005348Inspiratory stridor0EXOSC3 CL E G H5101017944ORPHA:2254Pontocerebellar hypoplasia type 138
HP:0005348HP:0005348Inspiratory stridor0EXOSC8 CL E G H1134017035ORPHA:2254Pontocerebellar hypoplasia type 14
HP:0005348HP:0005348Inspiratory stridor0EXOSC9 CL E G H53939137ORPHA:2254Pontocerebellar hypoplasia type 1
HP:0005348HP:0005348Inspiratory stridor0FUZ CL E G H8019926219ORPHA:1136Arnold-Chiari malformation type IIHP:0040283 - Occasional3
HP:0005348HP:0005348Inspiratory stridor0IGHMBP2 CL E G H35085542OMIM:604320Spinal muscular atrophy, distal, autosomal recessive, 1.209
HP:0005348HP:0005348Inspiratory stridor0KIF22 CL E G H38356391ORPHA:93360Spondyloepimetaphyseal dysplasia with multiple dislocations14
HP:0005348HP:0005348Inspiratory stridor0MIR140 CL E G H40693231527OMIM:618618SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN
HP:0005348HP:0005348Inspiratory stridor0PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0005348HP:0005348Inspiratory stridor0SCN4A CL E G H632910591OMIM:168300Paramyotonia congenita of von eulenburg.HP:0003621 - Juvenile onset263
HP:0005348HP:0005348Inspiratory stridor0SCN4A CL E G H632910591ORPHA:684Paramyotonia congenita of Von Eulenburg263
HP:0005348HP:0005348Inspiratory stridor0SCO2 CL E G H999710604OMIM:604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 140
HP:0005348HP:0005348Inspiratory stridor0SERPING1 CL E G H7101228ORPHA:100050Hereditary angioedema type 1HP:0040283 - Occasional64
HP:0005348HP:0005348Inspiratory stridor0SLC25A46 CL E G H9113725198ORPHA:2254Pontocerebellar hypoplasia type 114
HP:0005348HP:0005348Inspiratory stridor0SLC52A3 CL E G H11327816187OMIM:211500Bulbar palsy, progressive, of childhood51
HP:0005348HP:0005348Inspiratory stridor0VRK1 CL E G H744312718ORPHA:2254Pontocerebellar hypoplasia type 132
HP:0005348HP:0004886Congenital laryngeal stridor1AGTPBP1 CL E G H2328717258ORPHA:2254Pontocerebellar hypoplasia type 11
HP:0005348HP:0004886Congenital laryngeal stridor1EXOSC3 CL E G H5101017944ORPHA:2254Pontocerebellar hypoplasia type 138
HP:0005348HP:0004886Congenital laryngeal stridor1EXOSC8 CL E G H1134017035ORPHA:2254Pontocerebellar hypoplasia type 14
HP:0005348HP:0004886Congenital laryngeal stridor1EXOSC9 CL E G H53939137ORPHA:2254Pontocerebellar hypoplasia type 1
HP:0005348HP:0004875Neonatal inspiratory stridor1KIF22 CL E G H38356391ORPHA:93360Spondyloepimetaphyseal dysplasia with multiple dislocationsHP:0040283 - Occasional14
HP:0005348HP:0004886Congenital laryngeal stridor1PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0005348HP:0004875Neonatal inspiratory stridor1SCN4A CL E G H632910591ORPHA:684Paramyotonia congenita of Von EulenburgHP:0040282 - Frequent263
HP:0005348HP:0004886Congenital laryngeal stridor1SLC25A46 CL E G H9113725198ORPHA:2254Pontocerebellar hypoplasia type 114
HP:0005348HP:0005951Progressive inspiratory stridor1SLC52A3 CL E G H11327816187OMIM:211500Bulbar palsy, progressive, of childhood.51
HP:0005348HP:0004886Congenital laryngeal stridor1VRK1 CL E G H744312718ORPHA:2254Pontocerebellar hypoplasia type 132


Genes (16) :AGTPBP1 D2HGDH EXOSC3 EXOSC8 EXOSC9 FUZ IGHMBP2 KIF22 MIR140 PLP1 SCN4A SCO2 SERPING1 SLC25A46 SLC52A3 VRK1

Diseases (12) :ORPHA:2254 OMIM:600721 ORPHA:1136 OMIM:604320 ORPHA:93360 OMIM:618618 OMIM:312080 OMIM:168300 ORPHA:684 OMIM:604377 ORPHA:100050 OMIM:211500
 

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