Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the nose (HP:0000366)help
Parent Node:
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Abnormality of the choanae (HP:0000415)help
..Starting node
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Choanal stenosis (HP:0000452)help
Term ID: 452
Name: Choanal stenosis
Synonym: Coanal stenosis; Narrowing of the rear opening of the nasal cavity
Definition: Abnormal narrowing of the choana (the posterior nasal aperture).
Comments:
Reference: HP:0000452
Genes and Diseases:
 
       Child Nodes:
........expandBilateral choanal atresia/stenosis (HP:0200138) help

 Sister Nodes: 
..expandChoanal atresia (HP:0000453) 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:0000452HP:0000452Choanal stenosis0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0000452HP:0000452Choanal stenosis0CEP55 CL E G H551651161OMIM:236500Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly2
HP:0000452HP:0000452Choanal stenosis0DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndrome27
HP:0000452HP:0000452Choanal stenosis0FAM20C CL E G H5697522140OMIM:259775Raine syndrome.35
HP:0000452HP:0000452Choanal stenosis0FAT4 CL E G H7963323109ORPHA:314679Cerebrofacioarticular syndrome114
HP:0000452HP:0000452Choanal stenosis0FGFR1 CL E G H22603688OMIM:101600Pfeiffer syndrome.172
HP:0000452HP:0000452Choanal stenosis0FGFR2 CL E G H22633689OMIM:207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis.175
HP:0000452HP:0000452Choanal stenosis0FGFR2 CL E G H22633689OMIM:101200Apert syndrome.175
HP:0000452HP:0000452Choanal stenosis0FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome.175
HP:0000452HP:0000452Choanal stenosis0FGFR2 CL E G H22633689OMIM:101600Pfeiffer syndrome.175
HP:0000452HP:0000452Choanal stenosis0FGFR3 CL E G H22613690OMIM:100800ACHONDROPLASIA145
HP:0000452HP:0000452Choanal stenosis0FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome.353
HP:0000452HP:0000452Choanal stenosis0MSL3 CL E G H109437370OMIM:301032BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0000452HP:0000452Choanal stenosis0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome.40
HP:0000452HP:0000452Choanal stenosis0PAICS CL E G H106068587OMIM:619859
HP:0000452HP:0000452Choanal stenosis0POLR1B CL E G H8417220454OMIM:618939TREACHER COLLINS SYNDROME 4; TCS4
HP:0000452HP:0000452Choanal stenosis0POLR1D CL E G H5108220422OMIM:613717Treacher collins syndrome 2.31
HP:0000452HP:0000452Choanal stenosis0POR CL E G H54479208OMIM:201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis.76
HP:0000452HP:0000452Choanal stenosis0POR CL E G H54479208OMIM:207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis.76
HP:0000452HP:0000452Choanal stenosis0POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyHP:0040283 - Occasional76
HP:0000452HP:0000452Choanal stenosis0PTDSS1 CL E G H97919587OMIM:151050Lenz-Majewski hyperostotic dwarfism.6
HP:0000452HP:0000452Choanal stenosis0PTH1R CL E G H57459608OMIM:156400Metaphyseal chondrodysplasia, Jansen type.58
HP:0000452HP:0000452Choanal stenosis0RECQL4 CL E G H94019949OMIM:218600Baller-Gerold syndrome.445
HP:0000452HP:0000452Choanal stenosis0SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome.86
HP:0000452HP:0000452Choanal stenosis0SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome.11
HP:0000452HP:0000452Choanal stenosis0SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome.143
HP:0000452HP:0000452Choanal stenosis0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040283 - Occasional143
HP:0000452HP:0000452Choanal stenosis0SOST CL E G H5096413771OMIM:122860Craniodiaphyseal dysplasia, autosomal dominant.26
HP:0000452HP:0000452Choanal stenosis0TXNL4A CL E G H1090730551OMIM:608572Burn-Mckeown syndrome19
HP:0000452HP:0200138Bilateral choanal atresia/stenosis1DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndromeHP:0040283 - Occasional27
HP:0000452HP:0200138Bilateral choanal atresia/stenosis1FAT4 CL E G H7963323109ORPHA:314679Cerebrofacioarticular syndromeHP:0040283 - Occasional114
HP:0000452HP:0200138Bilateral choanal atresia/stenosis1TXNL4A CL E G H1090730551OMIM:608572Burn-Mckeown syndrome.19


Genes (23) :ASXL3 CEP55 DCHS1 FAM20C FAT4 FGFR1 FGFR2 FGFR3 FRAS1 MSL3 NFIX PAICS POLR1B POLR1D POR PTDSS1 PTH1R RECQL4 SALL4 SCARF2 SETBP1 SOST TXNL4A

Diseases (26) :OMIM:615485 OMIM:236500 ORPHA:314679 OMIM:259775 OMIM:101600 OMIM:207410 OMIM:101200 OMIM:123790 OMIM:100800 OMIM:219000 OMIM:301032 OMIM:602535 OMIM:619859 OMIM:618939 OMIM:613717 OMIM:201750 ORPHA:95699 OMIM:151050 OMIM:156400 OMIM:218600 OMIM:607323 OMIM:600920 OMIM:269150 ORPHA:798 OMIM:122860 OMIM:608572
 

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