Human Phenotype Ontology 
Grandparent Node:
Abnormality of the respiratory system (HP:0002086)help
Parent Node:
Abnormal respiratory system physiology (HP:0002795)help
..Starting node
Upper airway obstruction (HP:0002781)help
Term ID: 2781
Name: Upper airway obstruction
Synonym: Upper airway obstruction
Definition: Increased resistance to the passage of air in the upper airway.
Reference: HP:0002781
Genes and Diseases:
       Child Nodes:
........expandEpisodic upper airway obstruction (HP:0012271) help

 Sister Nodes: 
..expandAbnormal blood gas level (HP:0012415) help
..expandAbnormal breath sound (HP:0030829) help
..expandAbnormal bronchus physiology (HP:0025427) help
..expandAbnormal mucociliary clearance (HP:0031602) help
..expandAbnormal nasal mucus secretion (HP:0031416) help
..expandAbnormal pattern of respiration (HP:0002793) help
..expandAbnormal respiratory motile cilium physiology (HP:0012261) help
..expandAbnormal response to short acting pulmonary vasodilator (HP:0030893) help
..expandAbnormality of pulmonary circulation (HP:0030875) help
..expandAbnormality on pulmonary function testing (HP:0030878) help
..expandAirway obstruction (HP:0006536) help
..expandAspiration (HP:0002835) help
..expandAsthma (HP:0002099) help
..expandBreathing dysregulation (HP:0005957) help
..expandCough (HP:0012735) help
..expandCyanosis (HP:0000961) help
..expandDyspnea (HP:0002094) help
..expandobsolete Decreased pulmonary function (HP:0005952) help
..expandRecurrent singultus (HP:0100247) help
..expandReduced vital capacity (HP:0002792) help
..expandRespiratory insufficiency (HP:0002093) help
..expandRestrictive ventilatory defect (HP:0002091) help
..expandSneeze (HP:0025095) help
..expandSnoring (HP:0025267) help
..expandTracheal tug on inspiration (HP:0025008) help
..expandWeakness of muscles of respiration (HP:0004347) 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:0002781HP:0002781Upper airway obstruction0AHDC1 CL E G H2724525230ORPHA:412069AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndromeHP:0040282 - Frequent36
HP:0002781HP:0002781Upper airway obstruction0BTNL2 CL E G H562441142ORPHA:797SarcoidosisHP:0040283 - Occasional1
HP:0002781HP:0002781Upper airway obstruction0COL11A1 CL E G H13012186ORPHA:440354Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndromeHP:0040281 - Very frequent215
HP:0002781HP:0002781Upper airway obstruction0DDRGK1 CL E G H6599216110ORPHA:93352Spondyloepimetaphyseal dysplasia, Shohat typeHP:0040283 - Occasional
HP:0002781HP:0002781Upper airway obstruction0F12 CL E G H21613530OMIM:610618ANGIOEDEMA, HEREDITARY, TYPE III; HAE328
HP:0002781HP:0002781Upper airway obstruction0FGFR2 CL E G H22633689OMIM:207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis.175
HP:0002781HP:0002781Upper airway obstruction0FGFR3 CL E G H22613690OMIM:100800ACHONDROPLASIA.145
HP:0002781HP:0002781Upper airway obstruction0GNE CL E G H1002023657ORPHA:3166SialuriaHP:0040281 - Very frequent173
HP:0002781HP:0002781Upper airway obstruction0HLA-DRB1 CL E G H31234948ORPHA:797SarcoidosisHP:0040283 - Occasional2
HP:0002781HP:0002781Upper airway obstruction0IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated formHP:0040283 - Occasional86
HP:0002781HP:0002781Upper airway obstruction0IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe formHP:0040283 - Occasional86
HP:0002781HP:0002781Upper airway obstruction0KCNJ6 CL E G H37636267ORPHA:435628Keppen-Lubinsky syndromeHP:0040282 - Frequent3
HP:0002781HP:0002781Upper airway obstruction0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040283 - Occasional645
HP:0002781HP:0002781Upper airway obstruction0POR CL E G H54479208OMIM:207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis.76
HP:0002781HP:0002781Upper airway obstruction0SH3BP2 CL E G H645210825ORPHA:184CherubismHP:0040283 - Occasional177
HP:0002781HP:0002781Upper airway obstruction0SOX9 CL E G H666211204ORPHA:718Isolated Pierre Robin syndromeHP:0040282 - Frequent109
HP:0002781HP:0002781Upper airway obstruction0XPNPEP2 CL E G H751212823ORPHA:100057Renin-angiotensin-aldosterone system-blocker-induced angioedema4
HP:0002781HP:0002781Upper airway obstruction0ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040283 - Occasional83
HP:0002781HP:0002781Upper airway obstruction0ZSWIM6 CL E G H5768829316OMIM:603671Acromelic frontonasal dysostosisHP:0040283 - Occasional5
HP:0002781HP:0002781Upper airway obstruction0ZSWIM6 CL E G H5768829316ORPHA:1827Acromelic frontonasal dysplasiaHP:0040283 - Occasional5
HP:0002781HP:0012271Episodic upper airway obstruction1F12 CL E G H21613530OMIM:610618ANGIOEDEMA, HEREDITARY, TYPE III; HAE328


Diseases (17) :ORPHA:412069 ORPHA:797 ORPHA:440354 ORPHA:93352 OMIM:610618 OMIM:207410 OMIM:100800 ORPHA:3166 ORPHA:217093 ORPHA:217085 ORPHA:435628 ORPHA:740 ORPHA:184 ORPHA:718 ORPHA:100057 OMIM:603671 ORPHA:1827

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