Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the face (HP:0000271)help
Parent Node:
expand
Abnormality of the nose (HP:0000366)help
..Starting node
..expand
Abnormal nasal mucosa morphology (HP:0000433)help
Term ID: 433
Name: Abnormal nasal mucosa morphology
Synonym: Abnormality of mucosa of nose; Abnormality of mucous membrane of nose; Abnormality of nasal mucous membrane; Abnormality of the nasal mucosa
Definition:
Comments:
Reference: HP:0000433
Genes and Diseases:
 
       Child Nodes:
........expandNasal mucosa telangiectasia (HP:0000434) help
........expandNasal polyposis (HP:0100582) help

 Sister Nodes: 
..expandAbnormal external nose morphology (HP:0010938) help
..expandAbnormal nasal base norphology (HP:0012808) help
..expandAbnormal nasal bridge morphology (HP:0000422) help
..expandAbnormal nasal morphology (HP:0005105) help
..expandAbnormal nasal septum morphology (HP:0000419) help
..expandAbnormal nasal skeleton morphology (HP:0010937) help
..expandAbnormal nasopharynx morphology (HP:0001739) help
..expandAbnormal nostril morphology (HP:0005288) help
..expandAbnormality of nasal hair (HP:0040057) help
..expandAbnormality of nasalis muscle (HP:3000009) help
..expandAbnormality of procerus muscle (HP:3000014) help
..expandAbnormality of the choanae (HP:0000415) help
..expandAbnormality of the nasal cavity (HP:0010640) help
..expandAbnormality of the nasolabial region (HP:0005289) help
..expandAbnormality of the sense of smell (HP:0004408) help
..expandEpistaxis (HP:0000421) help
..expandNasal congestion (HP:0001742) help
..expandRhinitis (HP:0012384) 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:0000433HP:0000433Abnormal nasal mucosa morphology0ACVRL1 CL E G H94175OMIM:600376Telangiectasia, hereditary hemorrhagic, type 2178
HP:0000433HP:0000433Abnormal nasal mucosa morphology0BTNL2 CL E G H562441142ORPHA:797SarcoidosisHP:0040283 - Occasional1
HP:0000433HP:0000433Abnormal nasal mucosa morphology0CCDC103 CL E G H38838932700ORPHA:244Primary ciliary dyskinesia36
HP:0000433HP:0000433Abnormal nasal mucosa morphology0CCDC39 CL E G H33982925244ORPHA:244Primary ciliary dyskinesia126
HP:0000433HP:0000433Abnormal nasal mucosa morphology0CCDC40 CL E G H5503626090OMIM:613808CILIARY DYSKINESIA, PRIMARY, 15; CILD15182
HP:0000433HP:0000433Abnormal nasal mucosa morphology0CCDC40 CL E G H5503626090ORPHA:244Primary ciliary dyskinesia182
HP:0000433HP:0000433Abnormal nasal mucosa morphology0CCDC65 CL E G H8547829937ORPHA:244Primary ciliary dyskinesia23
HP:0000433HP:0000433Abnormal nasal mucosa morphology0CCNO CL E G H1030918576ORPHA:244Primary ciliary dyskinesia23
HP:0000433HP:0000433Abnormal nasal mucosa morphology0CEACAM3 CL E G H10841815ORPHA:586Cystic fibrosis
HP:0000433HP:0000433Abnormal nasal mucosa morphology0CEACAM6 CL E G H46801818ORPHA:586Cystic fibrosis1
HP:0000433HP:0000433Abnormal nasal mucosa morphology0CFAP221 CL E G H20037333720ORPHA:244Primary ciliary dyskinesia
HP:0000433HP:0000433Abnormal nasal mucosa morphology0CFAP298 CL E G H566831301ORPHA:244Primary ciliary dyskinesia
HP:0000433HP:0000433Abnormal nasal mucosa morphology0CFAP300 CL E G H8501628188ORPHA:244Primary ciliary dyskinesia
HP:0000433HP:0000433Abnormal nasal mucosa morphology0CFTR CL E G H10801884OMIM:219700Cystic fibrosis1371
HP:0000433HP:0000433Abnormal nasal mucosa morphology0CFTR CL E G H10801884ORPHA:586Cystic fibrosis1371
HP:0000433HP:0000433Abnormal nasal mucosa morphology0CLCA4 CL E G H228022018ORPHA:586Cystic fibrosis
HP:0000433HP:0000433Abnormal nasal mucosa morphology0DCTN4 CL E G H5116415518ORPHA:586Cystic fibrosis
HP:0000433HP:0000433Abnormal nasal mucosa morphology0DNAAF1 CL E G H12387230539ORPHA:244Primary ciliary dyskinesia116
HP:0000433HP:0000433Abnormal nasal mucosa morphology0DNAAF11 CL E G H2363916725OMIM:614935Ciliary dyskinesia, primary, 19
HP:0000433HP:0000433Abnormal nasal mucosa morphology0DNAAF11 CL E G H2363916725ORPHA:244Primary ciliary dyskinesia
HP:0000433HP:0000433Abnormal nasal mucosa morphology0DNAAF2 CL E G H5517220188ORPHA:244Primary ciliary dyskinesia78
HP:0000433HP:0000433Abnormal nasal mucosa morphology0DNAAF3 CL E G H35290930492OMIM:606763Ciliary dyskinesia, primary, 263
HP:0000433HP:0000433Abnormal nasal mucosa morphology0DNAAF3 CL E G H35290930492ORPHA:244Primary ciliary dyskinesia63
HP:0000433HP:0000433Abnormal nasal mucosa morphology0DNAAF4 CL E G H16158221493ORPHA:244Primary ciliary dyskinesia27
HP:0000433HP:0000433Abnormal nasal mucosa morphology0DNAAF5 CL E G H5491926013ORPHA:244Primary ciliary dyskinesia62
HP:0000433HP:0000433Abnormal nasal mucosa morphology0DNAAF6 CL E G H13921228570ORPHA:244Primary ciliary dyskinesia
HP:0000433HP:0000433Abnormal nasal mucosa morphology0DNAH1 CL E G H259812940ORPHA:244Primary ciliary dyskinesia21
HP:0000433HP:0000433Abnormal nasal mucosa morphology0DNAH11 CL E G H87012942ORPHA:244Primary ciliary dyskinesia542
HP:0000433HP:0000433Abnormal nasal mucosa morphology0DNAH5 CL E G H17672950ORPHA:244Primary ciliary dyskinesia527
HP:0000433HP:0000433Abnormal nasal mucosa morphology0DNAH9 CL E G H17702953ORPHA:244Primary ciliary dyskinesia18
HP:0000433HP:0000433Abnormal nasal mucosa morphology0DNAI1 CL E G H270192954OMIM:244400Ciliary dyskinesia, primary, 173
HP:0000433HP:0000433Abnormal nasal mucosa morphology0DNAI1 CL E G H270192954ORPHA:244Primary ciliary dyskinesia73
HP:0000433HP:0000433Abnormal nasal mucosa morphology0DNAI2 CL E G H6444618744ORPHA:244Primary ciliary dyskinesia104
HP:0000433HP:0000433Abnormal nasal mucosa morphology0DNAJB13 CL E G H37440730718ORPHA:244Primary ciliary dyskinesia2
HP:0000433HP:0000433Abnormal nasal mucosa morphology0DNAL1 CL E G H8354423247ORPHA:244Primary ciliary dyskinesia167
HP:0000433HP:0000433Abnormal nasal mucosa morphology0DRC1 CL E G H9274924245ORPHA:244Primary ciliary dyskinesia44
HP:0000433HP:0000433Abnormal nasal mucosa morphology0ECM1 CL E G H18933153ORPHA:530Lipoid proteinosis14
HP:0000433HP:0000433Abnormal nasal mucosa morphology0EDNRA CL E G H19093179ORPHA:586Cystic fibrosis3
HP:0000433HP:0000433Abnormal nasal mucosa morphology0ENG CL E G H20223349OMIM:187300Telangiectasia, hereditary hemorrhagic, type 1186
HP:0000433HP:0000433Abnormal nasal mucosa morphology0FCGR2A CL E G H22123616OMIM:219700Cystic fibrosis6
HP:0000433HP:0000433Abnormal nasal mucosa morphology0FOXJ1 CL E G H23023816ORPHA:244Primary ciliary dyskinesia
HP:0000433HP:0000433Abnormal nasal mucosa morphology0GAS2L2 CL E G H24617624846ORPHA:244Primary ciliary dyskinesia1
HP:0000433HP:0000433Abnormal nasal mucosa morphology0GAS8 CL E G H26224166ORPHA:244Primary ciliary dyskinesia9
HP:0000433HP:0000433Abnormal nasal mucosa morphology0GCLC CL E G H27294311ORPHA:586Cystic fibrosis2
HP:0000433HP:0000433Abnormal nasal mucosa morphology0GSTM3 CL E G H29474635ORPHA:586Cystic fibrosis1
HP:0000433HP:0000433Abnormal nasal mucosa morphology0HFE CL E G H30774886ORPHA:586Cystic fibrosis38
HP:0000433HP:0000433Abnormal nasal mucosa morphology0HLA-DRB1 CL E G H31234948ORPHA:797SarcoidosisHP:0040283 - Occasional2
HP:0000433HP:0000433Abnormal nasal mucosa morphology0HMOX1 CL E G H31625013ORPHA:586Cystic fibrosis3
HP:0000433HP:0000433Abnormal nasal mucosa morphology0HYDIN CL E G H5476819368OMIM:608647Ciliary dyskinesia, primary, 521
HP:0000433HP:0000433Abnormal nasal mucosa morphology0HYDIN CL E G H5476819368ORPHA:244Primary ciliary dyskinesia21
HP:0000433HP:0000433Abnormal nasal mucosa morphology0KCNN4 CL E G H37836293ORPHA:586Cystic fibrosis3
HP:0000433HP:0000433Abnormal nasal mucosa morphology0LRRC56 CL E G H11539925430ORPHA:244Primary ciliary dyskinesia
HP:0000433HP:0000433Abnormal nasal mucosa morphology0MCIDAS CL E G H34564340050OMIM:618695CILIARY DYSKINESIA, PRIMARY, 42; CILD4213
HP:0000433HP:0000433Abnormal nasal mucosa morphology0MCIDAS CL E G H34564340050ORPHA:244Primary ciliary dyskinesia13
HP:0000433HP:0000433Abnormal nasal mucosa morphology0MIF CL E G H42827097ORPHA:586Cystic fibrosis1
HP:0000433HP:0000433Abnormal nasal mucosa morphology0NEK10 CL E G H15211018592ORPHA:244Primary ciliary dyskinesia
HP:0000433HP:0000433Abnormal nasal mucosa morphology0NME8 CL E G H5131416473ORPHA:244Primary ciliary dyskinesia50
HP:0000433HP:0000433Abnormal nasal mucosa morphology0ODAD1 CL E G H9323326560ORPHA:244Primary ciliary dyskinesia
HP:0000433HP:0000433Abnormal nasal mucosa morphology0ODAD2 CL E G H5513025583ORPHA:244Primary ciliary dyskinesia
HP:0000433HP:0000433Abnormal nasal mucosa morphology0ODAD3 CL E G H11594828303OMIM:616037Ciliary dyskinesia, primary, 30
HP:0000433HP:0000433Abnormal nasal mucosa morphology0ODAD3 CL E G H11594828303ORPHA:244Primary ciliary dyskinesia
HP:0000433HP:0000433Abnormal nasal mucosa morphology0ODAD4 CL E G H8353825280OMIM:617092Ciliary dyskinesia, primary, 35
HP:0000433HP:0000433Abnormal nasal mucosa morphology0ODAD4 CL E G H8353825280ORPHA:244Primary ciliary dyskinesia
HP:0000433HP:0000433Abnormal nasal mucosa morphology0OFD1 CL E G H84812567ORPHA:244Primary ciliary dyskinesia201
HP:0000433HP:0000433Abnormal nasal mucosa morphology0PTGER2 CL E G H57329594OMIM:208550Asthma, nasal polyps, and aspirin intolerance1
HP:0000433HP:0000433Abnormal nasal mucosa morphology0RPGR CL E G H610310295ORPHA:244Primary ciliary dyskinesia200
HP:0000433HP:0000433Abnormal nasal mucosa morphology0RSPH1 CL E G H8976512371ORPHA:244Primary ciliary dyskinesia31
HP:0000433HP:0000433Abnormal nasal mucosa morphology0RSPH3 CL E G H8386121054ORPHA:244Primary ciliary dyskinesia5
HP:0000433HP:0000433Abnormal nasal mucosa morphology0RSPH4A CL E G H34589521558ORPHA:244Primary ciliary dyskinesia58
HP:0000433HP:0000433Abnormal nasal mucosa morphology0RSPH9 CL E G H22142121057ORPHA:244Primary ciliary dyskinesia20
HP:0000433HP:0000433Abnormal nasal mucosa morphology0SERPINA1 CL E G H52658941ORPHA:586Cystic fibrosis131
HP:0000433HP:0000433Abnormal nasal mucosa morphology0SLC11A1 CL E G H655610907ORPHA:586Cystic fibrosis2
HP:0000433HP:0000433Abnormal nasal mucosa morphology0SLC26A9 CL E G H11501914469ORPHA:586Cystic fibrosis5
HP:0000433HP:0000433Abnormal nasal mucosa morphology0SLC6A14 CL E G H1125411047ORPHA:586Cystic fibrosis
HP:0000433HP:0000433Abnormal nasal mucosa morphology0SLC9A3 CL E G H655011073ORPHA:586Cystic fibrosis7
HP:0000433HP:0000433Abnormal nasal mucosa morphology0SPAG1 CL E G H667411212ORPHA:244Primary ciliary dyskinesia45
HP:0000433HP:0000433Abnormal nasal mucosa morphology0SPEF2 CL E G H7992526293ORPHA:244Primary ciliary dyskinesia15
HP:0000433HP:0000433Abnormal nasal mucosa morphology0STK11 CL E G H679411389ORPHA:2869Peutz-Jeghers syndrome740
HP:0000433HP:0000433Abnormal nasal mucosa morphology0STK11 CL E G H679411389OMIM:175200Peutz-Jeghers syndrome740
HP:0000433HP:0000433Abnormal nasal mucosa morphology0STK36 CL E G H2714817209ORPHA:244Primary ciliary dyskinesia3
HP:0000433HP:0000433Abnormal nasal mucosa morphology0STX1A CL E G H680411433ORPHA:586Cystic fibrosis
HP:0000433HP:0000433Abnormal nasal mucosa morphology0TAP1 CL E G H689043OMIM:604571Bare lymphocyte syndrome, type I5
HP:0000433HP:0000433Abnormal nasal mucosa morphology0TAP2 CL E G H689144OMIM:604571Bare lymphocyte syndrome, type I17
HP:0000433HP:0000433Abnormal nasal mucosa morphology0TAPBP CL E G H689211566OMIM:604571Bare lymphocyte syndrome, type I3
HP:0000433HP:0000433Abnormal nasal mucosa morphology0TBX21 CL E G H3000911599OMIM:208550Asthma, nasal polyps, and aspirin intolerance1
HP:0000433HP:0000433Abnormal nasal mucosa morphology0TGFB1 CL E G H704011766ORPHA:586Cystic fibrosis13
HP:0000433HP:0000433Abnormal nasal mucosa morphology0TGFB1 CL E G H704011766OMIM:219700Cystic fibrosis13
HP:0000433HP:0000433Abnormal nasal mucosa morphology0TTC12 CL E G H5497023700ORPHA:244Primary ciliary dyskinesia
HP:0000433HP:0000433Abnormal nasal mucosa morphology0UNC119 CL E G H909412565OMIM:615518IMMUNODEFICIENCY 13; IMD1330
HP:0000433HP:0000433Abnormal nasal mucosa morphology0ZMYND10 CL E G H5136419412OMIM:615444Ciliary dyskinesia, primary, 2220
HP:0000433HP:0000433Abnormal nasal mucosa morphology0ZMYND10 CL E G H5136419412ORPHA:244Primary ciliary dyskinesia20
HP:0000433HP:0033521Nasal dryness1 CL E G H
HP:0000433HP:0033361Nasal ulcer1 CL E G H
HP:0000433HP:0000434Nasal mucosa telangiectasia1ACVRL1 CL E G H94175OMIM:600376Telangiectasia, hereditary hemorrhagic, type 2.178
HP:0000433HP:0100582Nasal polyposis1CCDC103 CL E G H38838932700ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent36
HP:0000433HP:0100582Nasal polyposis1CCDC39 CL E G H33982925244ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent126
HP:0000433HP:0100582Nasal polyposis1CCDC40 CL E G H5503626090OMIM:613808CILIARY DYSKINESIA, PRIMARY, 15; CILD15182
HP:0000433HP:0100582Nasal polyposis1CCDC40 CL E G H5503626090ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent182
HP:0000433HP:0100582Nasal polyposis1CCDC65 CL E G H8547829937ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent23
HP:0000433HP:0100582Nasal polyposis1CCNO CL E G H1030918576ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent23
HP:0000433HP:0100582Nasal polyposis1CEACAM3 CL E G H10841815ORPHA:586Cystic fibrosis
HP:0000433HP:0100582Nasal polyposis1CEACAM6 CL E G H46801818ORPHA:586Cystic fibrosis1
HP:0000433HP:0100582Nasal polyposis1CFAP221 CL E G H20037333720ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000433HP:0100582Nasal polyposis1CFAP298 CL E G H566831301ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000433HP:0100582Nasal polyposis1CFAP300 CL E G H8501628188ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000433HP:0100582Nasal polyposis1CFTR CL E G H10801884OMIM:219700Cystic fibrosis1371
HP:0000433HP:0100582Nasal polyposis1CFTR CL E G H10801884ORPHA:586Cystic fibrosis1371
HP:0000433HP:0100582Nasal polyposis1CLCA4 CL E G H228022018ORPHA:586Cystic fibrosis
HP:0000433HP:0100582Nasal polyposis1DCTN4 CL E G H5116415518ORPHA:586Cystic fibrosis
HP:0000433HP:0100582Nasal polyposis1DNAAF1 CL E G H12387230539ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent116
HP:0000433HP:0100582Nasal polyposis1DNAAF11 CL E G H2363916725OMIM:614935Ciliary dyskinesia, primary, 19.
HP:0000433HP:0100582Nasal polyposis1DNAAF11 CL E G H2363916725ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000433HP:0100582Nasal polyposis1DNAAF2 CL E G H5517220188ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent78
HP:0000433HP:0100582Nasal polyposis1DNAAF3 CL E G H35290930492OMIM:606763Ciliary dyskinesia, primary, 2.63
HP:0000433HP:0100582Nasal polyposis1DNAAF3 CL E G H35290930492ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent63
HP:0000433HP:0100582Nasal polyposis1DNAAF4 CL E G H16158221493ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent27
HP:0000433HP:0100582Nasal polyposis1DNAAF5 CL E G H5491926013ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent62
HP:0000433HP:0100582Nasal polyposis1DNAAF6 CL E G H13921228570ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000433HP:0100582Nasal polyposis1DNAH1 CL E G H259812940ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent21
HP:0000433HP:0100582Nasal polyposis1DNAH11 CL E G H87012942ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent542
HP:0000433HP:0100582Nasal polyposis1DNAH5 CL E G H17672950ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent527
HP:0000433HP:0100582Nasal polyposis1DNAH9 CL E G H17702953ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent18
HP:0000433HP:0100582Nasal polyposis1DNAI1 CL E G H270192954OMIM:244400Ciliary dyskinesia, primary, 1.73
HP:0000433HP:0100582Nasal polyposis1DNAI1 CL E G H270192954ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent73
HP:0000433HP:0100582Nasal polyposis1DNAI2 CL E G H6444618744ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent104
HP:0000433HP:0100582Nasal polyposis1DNAJB13 CL E G H37440730718ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent2
HP:0000433HP:0100582Nasal polyposis1DNAL1 CL E G H8354423247ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent167
HP:0000433HP:0100582Nasal polyposis1DRC1 CL E G H9274924245ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent44
HP:0000433HP:0100582Nasal polyposis1ECM1 CL E G H18933153ORPHA:530Lipoid proteinosisHP:0040283 - Occasional14
HP:0000433HP:0100582Nasal polyposis1EDNRA CL E G H19093179ORPHA:586Cystic fibrosis3
HP:0000433HP:0000434Nasal mucosa telangiectasia1ENG CL E G H20223349OMIM:187300Telangiectasia, hereditary hemorrhagic, type 1.186
HP:0000433HP:0100582Nasal polyposis1FCGR2A CL E G H22123616OMIM:219700Cystic fibrosis6
HP:0000433HP:0100582Nasal polyposis1FOXJ1 CL E G H23023816ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000433HP:0100582Nasal polyposis1GAS2L2 CL E G H24617624846ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent1
HP:0000433HP:0100582Nasal polyposis1GAS8 CL E G H26224166ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent9
HP:0000433HP:0100582Nasal polyposis1GCLC CL E G H27294311ORPHA:586Cystic fibrosis2
HP:0000433HP:0100582Nasal polyposis1GSTM3 CL E G H29474635ORPHA:586Cystic fibrosis1
HP:0000433HP:0100582Nasal polyposis1HFE CL E G H30774886ORPHA:586Cystic fibrosis38
HP:0000433HP:0100582Nasal polyposis1HMOX1 CL E G H31625013ORPHA:586Cystic fibrosis3
HP:0000433HP:0100582Nasal polyposis1HYDIN CL E G H5476819368OMIM:608647Ciliary dyskinesia, primary, 5.21
HP:0000433HP:0100582Nasal polyposis1HYDIN CL E G H5476819368ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent21
HP:0000433HP:0100582Nasal polyposis1KCNN4 CL E G H37836293ORPHA:586Cystic fibrosis3
HP:0000433HP:0100582Nasal polyposis1LRRC56 CL E G H11539925430ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000433HP:0100582Nasal polyposis1MCIDAS CL E G H34564340050OMIM:618695CILIARY DYSKINESIA, PRIMARY, 42; CILD4213
HP:0000433HP:0100582Nasal polyposis1MCIDAS CL E G H34564340050ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent13
HP:0000433HP:0100582Nasal polyposis1MIF CL E G H42827097ORPHA:586Cystic fibrosis1
HP:0000433HP:0100582Nasal polyposis1NEK10 CL E G H15211018592ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000433HP:0100582Nasal polyposis1NME8 CL E G H5131416473ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent50
HP:0000433HP:0100582Nasal polyposis1ODAD1 CL E G H9323326560ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000433HP:0100582Nasal polyposis1ODAD2 CL E G H5513025583ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000433HP:0100582Nasal polyposis1ODAD3 CL E G H11594828303OMIM:616037Ciliary dyskinesia, primary, 30.
HP:0000433HP:0100582Nasal polyposis1ODAD3 CL E G H11594828303ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000433HP:0100582Nasal polyposis1ODAD4 CL E G H8353825280OMIM:617092Ciliary dyskinesia, primary, 35.
HP:0000433HP:0100582Nasal polyposis1ODAD4 CL E G H8353825280ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000433HP:0100582Nasal polyposis1OFD1 CL E G H84812567ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent201
HP:0000433HP:0100582Nasal polyposis1PTGER2 CL E G H57329594OMIM:208550Asthma, nasal polyps, and aspirin intolerance.1
HP:0000433HP:0100582Nasal polyposis1RPGR CL E G H610310295ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent200
HP:0000433HP:0100582Nasal polyposis1RSPH1 CL E G H8976512371ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent31
HP:0000433HP:0100582Nasal polyposis1RSPH3 CL E G H8386121054ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent5
HP:0000433HP:0100582Nasal polyposis1RSPH4A CL E G H34589521558ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent58
HP:0000433HP:0100582Nasal polyposis1RSPH9 CL E G H22142121057ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent20
HP:0000433HP:0100582Nasal polyposis1SERPINA1 CL E G H52658941ORPHA:586Cystic fibrosis131
HP:0000433HP:0100582Nasal polyposis1SLC11A1 CL E G H655610907ORPHA:586Cystic fibrosis2
HP:0000433HP:0100582Nasal polyposis1SLC26A9 CL E G H11501914469ORPHA:586Cystic fibrosis5
HP:0000433HP:0100582Nasal polyposis1SLC6A14 CL E G H1125411047ORPHA:586Cystic fibrosis
HP:0000433HP:0100582Nasal polyposis1SLC9A3 CL E G H655011073ORPHA:586Cystic fibrosis7
HP:0000433HP:0100582Nasal polyposis1SPAG1 CL E G H667411212ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent45
HP:0000433HP:0100582Nasal polyposis1SPEF2 CL E G H7992526293ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent15
HP:0000433HP:0100582Nasal polyposis1STK11 CL E G H679411389OMIM:175200Peutz-Jeghers syndrome.740
HP:0000433HP:0100582Nasal polyposis1STK11 CL E G H679411389ORPHA:2869Peutz-Jeghers syndromeHP:0040283 - Occasional740
HP:0000433HP:0100582Nasal polyposis1STK36 CL E G H2714817209ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent3
HP:0000433HP:0100582Nasal polyposis1STX1A CL E G H680411433ORPHA:586Cystic fibrosis
HP:0000433HP:0100582Nasal polyposis1TAP1 CL E G H689043OMIM:604571Bare lymphocyte syndrome, type I.5
HP:0000433HP:0100582Nasal polyposis1TAP2 CL E G H689144OMIM:604571Bare lymphocyte syndrome, type I.17
HP:0000433HP:0100582Nasal polyposis1TAPBP CL E G H689211566OMIM:604571Bare lymphocyte syndrome, type I.3
HP:0000433HP:0100582Nasal polyposis1TBX21 CL E G H3000911599OMIM:208550Asthma, nasal polyps, and aspirin intolerance.1
HP:0000433HP:0100582Nasal polyposis1TGFB1 CL E G H704011766OMIM:219700Cystic fibrosis13
HP:0000433HP:0100582Nasal polyposis1TGFB1 CL E G H704011766ORPHA:586Cystic fibrosis13
HP:0000433HP:0100582Nasal polyposis1TTC12 CL E G H5497023700ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000433HP:0100582Nasal polyposis1UNC119 CL E G H909412565OMIM:615518IMMUNODEFICIENCY 13; IMD1330
HP:0000433HP:0100582Nasal polyposis1ZMYND10 CL E G H5136419412OMIM:615444Ciliary dyskinesia, primary, 22.20
HP:0000433HP:0100582Nasal polyposis1ZMYND10 CL E G H5136419412ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent20


Genes (79) :ACVRL1 BTNL2 CCDC103 CCDC39 CCDC40 CCDC65 CCNO CEACAM3 CEACAM6 CFAP221 CFAP298 CFAP300 CFTR CLCA4 DCTN4 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 ECM1 EDNRA ENG FCGR2A FOXJ1 GAS2L2 GAS8 GCLC GSTM3 HFE HLA-DRB1 HMOX1 HYDIN KCNN4 LRRC56 MCIDAS MIF NEK10 NME8 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PTGER2 RPGR RSPH1 RSPH3 RSPH4A RSPH9 SERPINA1 SLC11A1 SLC26A9 SLC6A14 SLC9A3 SPAG1 SPEF2 STK11 STK36 STX1A TAP1 TAP2 TAPBP TBX21 TGFB1 TTC12 UNC119 ZMYND10

Diseases (21) :OMIM:600376 ORPHA:797 ORPHA:244 OMIM:613808 ORPHA:586 OMIM:219700 OMIM:614935 OMIM:606763 OMIM:244400 ORPHA:530 OMIM:187300 OMIM:608647 OMIM:618695 OMIM:616037 OMIM:617092 OMIM:208550 ORPHA:2869 OMIM:175200 OMIM:604571 OMIM:615518 OMIM:615444
 

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