Human Phenotype Ontology 
Grandparent Node:
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Abnormal inflammatory response (HP:0012647)help
Parent Node:
expand
Abnormal paranasal sinus morphology (HP:0000245)help
Parent Node:
expand
Increased inflammatory response (HP:0012649)help
..Starting node
..expand
Sinusitis (HP:0000246)help
Term ID: 246
Name: Sinusitis
Synonym: Sinus disease; Sinus infection; Sinus inflammation
Definition: Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.
Comments:
Reference: HP:0000246
Genes and Diseases:
 
       Child Nodes:
........expandAcute sinusitis (HP:0000255) help
........expandRecurrent sinusitis (HP:0011108) help
........expandChronic sinusitis (HP:0011109) help

 Sister Nodes: 
..expandCholangitis (HP:0030151) help
..expandChondritis (HP:0100662) help
..expandEndocarditis (HP:0100584) help
..expandEpididymitis (HP:0000031) help
..expandFasciitis (HP:0100537) help
..expandGastrointestinal inflammation (HP:0004386) help
..expandHepatitis (HP:0012115) help
..expandInflammatory abnormality of the eye (HP:0100533) help
..expandInflammatory abnormality of the skin (HP:0011123) help
..expandLymphadenitis (HP:0002840) help
..expandMeningitis (HP:0001287) help
..expandMyelitis (HP:0012486) help
..expandMyositis (HP:0100614) help
..expandNephritis (HP:0000123) help
..expandOptic neuritis (HP:0100653) help
..expandOsteomyelitis (HP:0002754) help
..expandOtitis media (HP:0000388) help
..expandPancreatitis (HP:0001733) help
..expandPanniculitis (HP:0012490) help
..expandPeriodontitis (HP:0000704) help
..expandPneumonia (HP:0002090) help
..expandProstatitis (HP:0000024) help
..expandSerositis (HP:0045073) help
..expandStomatitis (HP:0010280) help
..expandThyroiditis (HP:0100646) help
..expandUrinary bladder inflammation (HP:0100577) help
..expandVaginitis (HP:0030683) 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:0000246HP:0000246Sinusitis0ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation16
HP:0000246HP:0000246Sinusitis0ADA CL E G H100186ORPHA:277Severe combined immunodeficiency due to adenosine deaminase deficiencyHP:0040282 - Frequent75
HP:0000246HP:0000246Sinusitis0ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency.75
HP:0000246HP:0000246Sinusitis0ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0000246HP:0000246Sinusitis0ALMS1 CL E G H7840428ORPHA:64Alström syndrome404
HP:0000246HP:0000246Sinusitis0ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA.3267
HP:0000246HP:0000246Sinusitis0BLNK CL E G H2976014211OMIM:613502Agammaglobulinemia 4, autosomal recessive4
HP:0000246HP:0000246Sinusitis0BLNK CL E G H2976014211ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent4
HP:0000246HP:0000246Sinusitis0BTK CL E G H6951133OMIM:300755Agammaglobulinemia, X-linked.109
HP:0000246HP:0000246Sinusitis0BTK CL E G H6951133OMIM:307200Isolated growth hormone deficiency, type III, with agammaglobulinemia.109
HP:0000246HP:0000246Sinusitis0BTK CL E G H6951133ORPHA:47X-linked agammaglobulinemiaHP:0040281 - Very frequent109
HP:0000246HP:0000246Sinusitis0C4B CL E G H7211324OMIM:614379Complement component 4B deficiency1
HP:0000246HP:0000246Sinusitis0CCDC103 CL E G H38838932700OMIM:614679Ciliary dyskinesia, primary, 1736
HP:0000246HP:0000246Sinusitis0CCDC103 CL E G H38838932700ORPHA:244Primary ciliary dyskinesia36
HP:0000246HP:0000246Sinusitis0CCDC39 CL E G H33982925244OMIM:613807Ciliary dyskinesia, primary, 14126
HP:0000246HP:0000246Sinusitis0CCDC39 CL E G H33982925244ORPHA:244Primary ciliary dyskinesia126
HP:0000246HP:0000246Sinusitis0CCDC40 CL E G H5503626090OMIM:613808CILIARY DYSKINESIA, PRIMARY, 15; CILD15182
HP:0000246HP:0000246Sinusitis0CCDC40 CL E G H5503626090ORPHA:244Primary ciliary dyskinesia182
HP:0000246HP:0000246Sinusitis0CCDC65 CL E G H8547829937OMIM:615504Ciliary dyskinesia, primary, 27.23
HP:0000246HP:0000246Sinusitis0CCDC65 CL E G H8547829937ORPHA:244Primary ciliary dyskinesia23
HP:0000246HP:0000246Sinusitis0CCNO CL E G H1030918576ORPHA:244Primary ciliary dyskinesia23
HP:0000246HP:0000246Sinusitis0CD19 CL E G H9301633OMIM:240500Immunodeficiency, common variable, 238
HP:0000246HP:0000246Sinusitis0CD19 CL E G H9301633OMIM:613493IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID338
HP:0000246HP:0000246Sinusitis0CD79A CL E G H9731698ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent9
HP:0000246HP:0000246Sinusitis0CD79B CL E G H9741699OMIM:612692Agammaglobulinemia 6, autosomal recessive6
HP:0000246HP:0000246Sinusitis0CD79B CL E G H9741699ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent6
HP:0000246HP:0000246Sinusitis0CEACAM3 CL E G H10841815ORPHA:586Cystic fibrosis
HP:0000246HP:0000246Sinusitis0CEACAM6 CL E G H46801818ORPHA:586Cystic fibrosis1
HP:0000246HP:0000246Sinusitis0CFAP221 CL E G H20037333720ORPHA:244Primary ciliary dyskinesia
HP:0000246HP:0000246Sinusitis0CFAP298 CL E G H566831301OMIM:615500Ciliary dyskinesia, primary, 26
HP:0000246HP:0000246Sinusitis0CFAP298 CL E G H566831301ORPHA:244Primary ciliary dyskinesia
HP:0000246HP:0000246Sinusitis0CFAP300 CL E G H8501628188OMIM:618063Ciliary dyskinesia, primary, 38
HP:0000246HP:0000246Sinusitis0CFAP300 CL E G H8501628188ORPHA:244Primary ciliary dyskinesia
HP:0000246HP:0000246Sinusitis0CFAP45 CL E G H2579017229OMIM:619608HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0000246HP:0000246Sinusitis0CFAP52 CL E G H14684516053OMIM:619607HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10
HP:0000246HP:0000246Sinusitis0CFI CL E G H34265394OMIM:610984Complement factor I deficiency.57
HP:0000246HP:0000246Sinusitis0CFTR CL E G H10801884ORPHA:586Cystic fibrosis1371
HP:0000246HP:0000246Sinusitis0CFTR CL E G H10801884OMIM:219700Cystic fibrosis1371
HP:0000246HP:0000246Sinusitis0CIITA CL E G H42617067ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040282 - Frequent118
HP:0000246HP:0000246Sinusitis0CLCA4 CL E G H228022018ORPHA:586Cystic fibrosis
HP:0000246HP:0000246Sinusitis0COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I660
HP:0000246HP:0000246Sinusitis0COL5A2 CL E G H12902210OMIM:130010Ehlers-Danlos syndrome, classic type, 2325
HP:0000246HP:0000246Sinusitis0CR2 CL E G H13802336OMIM:240500Immunodeficiency, common variable, 210
HP:0000246HP:0000246Sinusitis0CTLA4 CL E G H14932505ORPHA:900Granulomatosis with polyangiitisHP:0040281 - Very frequent10
HP:0000246HP:0000246Sinusitis0CXCR4 CL E G H78522561ORPHA:51636WHIM syndromeHP:0040283 - Occasional9
HP:0000246HP:0000246Sinusitis0CYBA CL E G H15352577ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent27
HP:0000246HP:0000246Sinusitis0CYBB CL E G H15362578ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent111
HP:0000246HP:0000246Sinusitis0CYBC1 CL E G H7941528672ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent
HP:0000246HP:0000246Sinusitis0DCTN4 CL E G H5116415518ORPHA:586Cystic fibrosis
HP:0000246HP:0000246Sinusitis0DNAAF1 CL E G H12387230539OMIM:613193Ciliary dyskinesia, primary, 13.116
HP:0000246HP:0000246Sinusitis0DNAAF1 CL E G H12387230539ORPHA:244Primary ciliary dyskinesia116
HP:0000246HP:0000246Sinusitis0DNAAF11 CL E G H2363916725OMIM:614935Ciliary dyskinesia, primary, 19
HP:0000246HP:0000246Sinusitis0DNAAF11 CL E G H2363916725ORPHA:244Primary ciliary dyskinesia
HP:0000246HP:0000246Sinusitis0DNAAF2 CL E G H5517220188OMIM:612518CILIARY DYSKINESIA, PRIMARY, 10; CILD1078
HP:0000246HP:0000246Sinusitis0DNAAF2 CL E G H5517220188ORPHA:244Primary ciliary dyskinesia78
HP:0000246HP:0000246Sinusitis0DNAAF3 CL E G H35290930492OMIM:606763Ciliary dyskinesia, primary, 2.63
HP:0000246HP:0000246Sinusitis0DNAAF3 CL E G H35290930492ORPHA:244Primary ciliary dyskinesia63
HP:0000246HP:0000246Sinusitis0DNAAF4 CL E G H16158221493OMIM:615482Ciliary dyskinesia, primary, 25.27
HP:0000246HP:0000246Sinusitis0DNAAF4 CL E G H16158221493ORPHA:244Primary ciliary dyskinesia27
HP:0000246HP:0000246Sinusitis0DNAAF5 CL E G H5491926013OMIM:614874Ciliary dyskinesia, primary, 1862
HP:0000246HP:0000246Sinusitis0DNAAF5 CL E G H5491926013ORPHA:244Primary ciliary dyskinesia62
HP:0000246HP:0000246Sinusitis0DNAAF6 CL E G H13921228570OMIM:300991Ciliary dyskinesia, primary, 36, X-linked
HP:0000246HP:0000246Sinusitis0DNAAF6 CL E G H13921228570ORPHA:244Primary ciliary dyskinesia
HP:0000246HP:0000246Sinusitis0DNAH1 CL E G H259812940ORPHA:244Primary ciliary dyskinesia21
HP:0000246HP:0000246Sinusitis0DNAH11 CL E G H87012942ORPHA:244Primary ciliary dyskinesia542
HP:0000246HP:0000246Sinusitis0DNAH5 CL E G H17672950OMIM:608644CILIARY DYSKINESIA, PRIMARY, 3; CILD3527
HP:0000246HP:0000246Sinusitis0DNAH5 CL E G H17672950ORPHA:244Primary ciliary dyskinesia527
HP:0000246HP:0000246Sinusitis0DNAH9 CL E G H17702953OMIM:618300Ciliary dyskinesia, primary, 4018
HP:0000246HP:0000246Sinusitis0DNAH9 CL E G H17702953ORPHA:244Primary ciliary dyskinesia18
HP:0000246HP:0000246Sinusitis0DNAI1 CL E G H270192954OMIM:244400Ciliary dyskinesia, primary, 1.73
HP:0000246HP:0000246Sinusitis0DNAI1 CL E G H270192954ORPHA:244Primary ciliary dyskinesia73
HP:0000246HP:0000246Sinusitis0DNAI2 CL E G H6444618744OMIM:612444CILIARY DYSKINESIA, PRIMARY, 9; CILD9104
HP:0000246HP:0000246Sinusitis0DNAI2 CL E G H6444618744ORPHA:244Primary ciliary dyskinesia104
HP:0000246HP:0000246Sinusitis0DNAJB13 CL E G H37440730718OMIM:617091CILIARY DYSKINESIA, PRIMARY, 34; CILD342
HP:0000246HP:0000246Sinusitis0DNAJB13 CL E G H37440730718ORPHA:244Primary ciliary dyskinesia2
HP:0000246HP:0000246Sinusitis0DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional5
HP:0000246HP:0000246Sinusitis0DNAL1 CL E G H8354423247OMIM:614017CILIARY DYSKINESIA, PRIMARY, 16; CILD16167
HP:0000246HP:0000246Sinusitis0DNAL1 CL E G H8354423247ORPHA:244Primary ciliary dyskinesia167
HP:0000246HP:0000246Sinusitis0DNMT3B CL E G H17892979OMIM:242860Immunodeficiency-Centromeric instability-facial anomalies syndrome.79
HP:0000246HP:0000246Sinusitis0DOCK8 CL E G H8170419191ORPHA:217390Combined immunodeficiency due to DOCK8 deficiency217
HP:0000246HP:0000246Sinusitis0DOCK8 CL E G H8170419191OMIM:243700Hyper-Ige recurrent infection syndrome, autosomal recessive217
HP:0000246HP:0000246Sinusitis0DRC1 CL E G H9274924245OMIM:615294CILIARY DYSKINESIA, PRIMARY, 21; CILD2144
HP:0000246HP:0000246Sinusitis0DRC1 CL E G H9274924245ORPHA:244Primary ciliary dyskinesia44
HP:0000246HP:0000246Sinusitis0EDNRA CL E G H19093179ORPHA:586Cystic fibrosis3
HP:0000246HP:0000246Sinusitis0EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional1
HP:0000246HP:0000246Sinusitis0ELANE CL E G H19913309ORPHA:2686Cyclic neutropeniaHP:0040281 - Very frequent79
HP:0000246HP:0000246Sinusitis0FCGR2A CL E G H22123616OMIM:219700Cystic fibrosis6
HP:0000246HP:0000246Sinusitis0FCGR3A CL E G H22143619OMIM:615707Immunodeficiency 204
HP:0000246HP:0000246Sinusitis0FMR1 CL E G H23323775ORPHA:908Fragile X syndromeHP:0040282 - Frequent30
HP:0000246HP:0000246Sinusitis0FOXJ1 CL E G H23023816OMIM:618699CILIARY DYSKINESIA, PRIMARY, 43; CILD43
HP:0000246HP:0000246Sinusitis0FOXJ1 CL E G H23023816ORPHA:244Primary ciliary dyskinesia
HP:0000246HP:0000246Sinusitis0GAS2L2 CL E G H24617624846OMIM:618449Ciliary dyskinesia, primary, 411
HP:0000246HP:0000246Sinusitis0GAS2L2 CL E G H24617624846ORPHA:244Primary ciliary dyskinesia1
HP:0000246HP:0000246Sinusitis0GAS8 CL E G H26224166ORPHA:244Primary ciliary dyskinesia9
HP:0000246HP:0000246Sinusitis0GCLC CL E G H27294311ORPHA:586Cystic fibrosis2
HP:0000246HP:0000246Sinusitis0GSTM3 CL E G H29474635ORPHA:586Cystic fibrosis1
HP:0000246HP:0000246Sinusitis0HFE CL E G H30774886ORPHA:586Cystic fibrosis38
HP:0000246HP:0000246Sinusitis0HLA-DPA1 CL E G H31134938ORPHA:900Granulomatosis with polyangiitisHP:0040281 - Very frequent
HP:0000246HP:0000246Sinusitis0HLA-DPB1 CL E G H31154940ORPHA:900Granulomatosis with polyangiitisHP:0040281 - Very frequent1
HP:0000246HP:0000246Sinusitis0HMOX1 CL E G H31625013ORPHA:586Cystic fibrosis3
HP:0000246HP:0000246Sinusitis0HYDIN CL E G H5476819368OMIM:608647Ciliary dyskinesia, primary, 5.21
HP:0000246HP:0000246Sinusitis0HYDIN CL E G H5476819368ORPHA:244Primary ciliary dyskinesia21
HP:0000246HP:0000246Sinusitis0ICOS CL E G H298515351OMIM:607594Immunodeficiency, common variable, 132
HP:0000246HP:0000246Sinusitis0ICOS CL E G H298515351OMIM:240500Immunodeficiency, common variable, 232
HP:0000246HP:0000246Sinusitis0IGHG2 CL E G H35015526ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency1
HP:0000246HP:0000246Sinusitis0IGHM CL E G H35075541OMIM:601495Agammaglobulinemia 1, autosomal recessive.7
HP:0000246HP:0000246Sinusitis0IGHM CL E G H35075541ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent7
HP:0000246HP:0000246Sinusitis0IGKC CL E G H35145716ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency5
HP:0000246HP:0000246Sinusitis0IGLL1 CL E G H35435870ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent3
HP:0000246HP:0000246Sinusitis0IGSF3 CL E G H33215950OMIM:149700Lacrimal duct defectHP:0040283 - Occasional3
HP:0000246HP:0000246Sinusitis0IKBKB CL E G H35515960OMIM:618204IMMUNODEFICIENCY 15A; IMD15A4
HP:0000246HP:0000246Sinusitis0IL17RA CL E G H237655985OMIM:613953Immunodeficiency 51196
HP:0000246HP:0000246Sinusitis0IL21R CL E G H506156006OMIM:615207IMMUNODEFICIENCY 56; IMD567
HP:0000246HP:0000246Sinusitis0IL2RG CL E G H35616010OMIM:312863Combined immunodeficiency, X-linked.48
HP:0000246HP:0000246Sinusitis0IRF2BP2 CL E G H35994821729OMIM:617765IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID144
HP:0000246HP:0000246Sinusitis0IRF8 CL E G H33945358OMIM:226990Immunodeficiency 32B.5
HP:0000246HP:0000246Sinusitis0IVNS1ABP CL E G H1062516951OMIM:618969IMMUNODEFICIENCY 70; IMD70
HP:0000246HP:0000246Sinusitis0KCNN4 CL E G H37836293ORPHA:586Cystic fibrosis3
HP:0000246HP:0000246Sinusitis0LRBA CL E G H9871742OMIM:614700IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID845
HP:0000246HP:0000246Sinusitis0LRRC56 CL E G H11539925430ORPHA:244Primary ciliary dyskinesia
HP:0000246HP:0000246Sinusitis0LRRC8A CL E G H5626219027ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent3
HP:0000246HP:0000246Sinusitis0MAGT1 CL E G H8406128880OMIM:300853IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN17
HP:0000246HP:0000246Sinusitis0MCIDAS CL E G H34564340050OMIM:618695CILIARY DYSKINESIA, PRIMARY, 42; CILD4213
HP:0000246HP:0000246Sinusitis0MCIDAS CL E G H34564340050ORPHA:244Primary ciliary dyskinesia13
HP:0000246HP:0000246Sinusitis0MDM4 CL E G H41946974OMIM:618849BONE MARROW FAILURE SYNDROME 6; BMFS61
HP:0000246HP:0000246Sinusitis0MGP CL E G H42567060OMIM:245150Keutel syndrome.33
HP:0000246HP:0000246Sinusitis0MGP CL E G H42567060ORPHA:85202Keutel syndrome33
HP:0000246HP:0000246Sinusitis0MIF CL E G H42827097ORPHA:586Cystic fibrosis1
HP:0000246HP:0000246Sinusitis0NBN CL E G H46837652OMIM:251260Nijmegen breakage syndrome.706
HP:0000246HP:0000246Sinusitis0NCF1 CL E G H6533617660ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent13
HP:0000246HP:0000246Sinusitis0NCF2 CL E G H46887661ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent67
HP:0000246HP:0000246Sinusitis0NCF4 CL E G H46897662ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent37
HP:0000246HP:0000246Sinusitis0NCF4 CL E G H46897662OMIM:613960Chronic granulomatous disease 3, autosomal recessive37
HP:0000246HP:0000246Sinusitis0NEK10 CL E G H15211018592OMIM:618781CILIARY DYSKINESIA, PRIMARY, 44; CILD44
HP:0000246HP:0000246Sinusitis0NEK10 CL E G H15211018592ORPHA:244Primary ciliary dyskinesia
HP:0000246HP:0000246Sinusitis0NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletionHP:0040284 - Very rare1952
HP:0000246HP:0000246Sinusitis0NFKB1 CL E G H47907794OMIM:616576IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID127
HP:0000246HP:0000246Sinusitis0NFKB2 CL E G H47917795ORPHA:293978Deficiency in anterior pituitary function-variable immunodeficiency syndrome11
HP:0000246HP:0000246Sinusitis0NFKB2 CL E G H47917795OMIM:615577Immunodeficiency, common variable, 1011
HP:0000246HP:0000246Sinusitis0NME5 CL E G H83827853OMIM:620032
HP:0000246HP:0000246Sinusitis0NME8 CL E G H5131416473OMIM:610852Ciliary dyskinesia, primary, 6.50
HP:0000246HP:0000246Sinusitis0NME8 CL E G H5131416473ORPHA:244Primary ciliary dyskinesia50
HP:0000246HP:0000246Sinusitis0ODAD1 CL E G H9323326560OMIM:615067Ciliary dyskinesia, primary, 20
HP:0000246HP:0000246Sinusitis0ODAD1 CL E G H9323326560ORPHA:244Primary ciliary dyskinesia
HP:0000246HP:0000246Sinusitis0ODAD2 CL E G H5513025583OMIM:615451CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0000246HP:0000246Sinusitis0ODAD2 CL E G H5513025583ORPHA:244Primary ciliary dyskinesia
HP:0000246HP:0000246Sinusitis0ODAD3 CL E G H11594828303OMIM:616037Ciliary dyskinesia, primary, 30
HP:0000246HP:0000246Sinusitis0ODAD3 CL E G H11594828303ORPHA:244Primary ciliary dyskinesia
HP:0000246HP:0000246Sinusitis0ODAD4 CL E G H8353825280OMIM:617092Ciliary dyskinesia, primary, 35
HP:0000246HP:0000246Sinusitis0ODAD4 CL E G H8353825280ORPHA:244Primary ciliary dyskinesia
HP:0000246HP:0000246Sinusitis0OFD1 CL E G H84812567ORPHA:244Primary ciliary dyskinesia201
HP:0000246HP:0000246Sinusitis0PGM3 CL E G H52388907ORPHA:443811PGM3-CDG15
HP:0000246HP:0000246Sinusitis0PIK3CD CL E G H52938977OMIM:619281IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B9
HP:0000246HP:0000246Sinusitis0PIK3R1 CL E G H52958979ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent43
HP:0000246HP:0000246Sinusitis0PNP CL E G H48607892OMIM:613179Immunodeficiency due to purine nucleoside phosphorylase deficiency.52
HP:0000246HP:0000246Sinusitis0PRKCD CL E G H55809399OMIM:615559AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS310
HP:0000246HP:0000246Sinusitis0PRTN3 CL E G H56579495ORPHA:900Granulomatosis with polyangiitisHP:0040281 - Very frequent
HP:0000246HP:0000246Sinusitis0PSMB4 CL E G H56929541OMIM:617591Proteasome-Associated autoinflammatory syndrome 3.
HP:0000246HP:0000246Sinusitis0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0000246HP:0000246Sinusitis0PSMB9 CL E G H56989546OMIM:617591Proteasome-Associated autoinflammatory syndrome 3.
HP:0000246HP:0000246Sinusitis0PTPN22 CL E G H261919652ORPHA:900Granulomatosis with polyangiitisHP:0040281 - Very frequent3
HP:0000246HP:0000246Sinusitis0RAC2 CL E G H58809802OMIM:618986IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B9
HP:0000246HP:0000246Sinusitis0RFX5 CL E G H59939986ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040282 - Frequent38
HP:0000246HP:0000246Sinusitis0RFXANK CL E G H86259987ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040282 - Frequent26
HP:0000246HP:0000246Sinusitis0RFXAP CL E G H59949988ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040282 - Frequent34
HP:0000246HP:0000246Sinusitis0RNF168 CL E G H16591826661ORPHA:420741RIDDLE syndrome7
HP:0000246HP:0000246Sinusitis0RPGR CL E G H610310295ORPHA:244Primary ciliary dyskinesia200
HP:0000246HP:0000246Sinusitis0RPGR CL E G H610310295OMIM:300455RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS200
HP:0000246HP:0000246Sinusitis0RSPH1 CL E G H8976512371OMIM:615481Ciliary dyskinesia, primary, 24.31
HP:0000246HP:0000246Sinusitis0RSPH1 CL E G H8976512371ORPHA:244Primary ciliary dyskinesia31
HP:0000246HP:0000246Sinusitis0RSPH3 CL E G H8386121054OMIM:616481Ciliary dyskinesia, primary, 325
HP:0000246HP:0000246Sinusitis0RSPH3 CL E G H8386121054ORPHA:244Primary ciliary dyskinesia5
HP:0000246HP:0000246Sinusitis0RSPH4A CL E G H34589521558OMIM:612649Ciliary dyskinesia, primary, 1158
HP:0000246HP:0000246Sinusitis0RSPH4A CL E G H34589521558ORPHA:244Primary ciliary dyskinesia58
HP:0000246HP:0000246Sinusitis0RSPH9 CL E G H22142121057OMIM:612650CILIARY DYSKINESIA, PRIMARY, 12; CILD1220
HP:0000246HP:0000246Sinusitis0RSPH9 CL E G H22142121057ORPHA:244Primary ciliary dyskinesia20
HP:0000246HP:0000246Sinusitis0RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasiaHP:0040282 - Frequent90
HP:0000246HP:0000246Sinusitis0SASH3 CL E G H5444015975OMIM:3010821
HP:0000246HP:0000246Sinusitis0SBDS CL E G H5111919440ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional26
HP:0000246HP:0000246Sinusitis0SERPINA1 CL E G H52658941ORPHA:586Cystic fibrosis131
HP:0000246HP:0000246Sinusitis0SH3KBP1 CL E G H3001113867OMIM:300310Immunodeficiency 612
HP:0000246HP:0000246Sinusitis0SLC11A1 CL E G H655610907ORPHA:586Cystic fibrosis2
HP:0000246HP:0000246Sinusitis0SLC26A9 CL E G H11501914469ORPHA:586Cystic fibrosis5
HP:0000246HP:0000246Sinusitis0SLC6A14 CL E G H1125411047ORPHA:586Cystic fibrosis
HP:0000246HP:0000246Sinusitis0SLC9A3 CL E G H655011073ORPHA:586Cystic fibrosis7
HP:0000246HP:0000246Sinusitis0SPAG1 CL E G H667411212OMIM:615505Ciliary dyskinesia, primary, 28.45
HP:0000246HP:0000246Sinusitis0SPAG1 CL E G H667411212ORPHA:244Primary ciliary dyskinesia45
HP:0000246HP:0000246Sinusitis0SPEF2 CL E G H7992526293ORPHA:244Primary ciliary dyskinesia15
HP:0000246HP:0000246Sinusitis0SPI1 CL E G H668811241OMIM:619707AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0000246HP:0000246Sinusitis0SRP54 CL E G H672911301ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional
HP:0000246HP:0000246Sinusitis0STK36 CL E G H2714817209OMIM:619436CILIARY DYSKINESIA, PRIMARY, 46; CILD463
HP:0000246HP:0000246Sinusitis0STK36 CL E G H2714817209ORPHA:244Primary ciliary dyskinesia3
HP:0000246HP:0000246Sinusitis0STX1A CL E G H680411433ORPHA:586Cystic fibrosis
HP:0000246HP:0000246Sinusitis0STXBP2 CL E G H681311445OMIM:613101HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL570
HP:0000246HP:0000246Sinusitis0TAP1 CL E G H689043OMIM:604571Bare lymphocyte syndrome, type I5
HP:0000246HP:0000246Sinusitis0TAP2 CL E G H689144OMIM:604571Bare lymphocyte syndrome, type I17
HP:0000246HP:0000246Sinusitis0TAPBP CL E G H689211566OMIM:604571Bare lymphocyte syndrome, type I3
HP:0000246HP:0000246Sinusitis0TBX1 CL E G H689911592OMIM:188400Digeorge syndrome32
HP:0000246HP:0000246Sinusitis0TCF3 CL E G H692911633ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent2
HP:0000246HP:0000246Sinusitis0TGFB1 CL E G H704011766OMIM:219700Cystic fibrosis13
HP:0000246HP:0000246Sinusitis0TGFB1 CL E G H704011766ORPHA:586Cystic fibrosis13
HP:0000246HP:0000246Sinusitis0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0000246HP:0000246Sinusitis0TNFRSF13B CL E G H2349518153OMIM:240500Immunodeficiency, common variable, 232
HP:0000246HP:0000246Sinusitis0TNFRSF13C CL E G H11565017755OMIM:240500Immunodeficiency, common variable, 212
HP:0000246HP:0000246Sinusitis0TNFRSF13C CL E G H11565017755OMIM:613494Immunodeficiency, common variable, 412
HP:0000246HP:0000246Sinusitis0TTC12 CL E G H5497023700ORPHA:244Primary ciliary dyskinesia
HP:0000246HP:0000246Sinusitis0UNC119 CL E G H909412565OMIM:615518IMMUNODEFICIENCY 13; IMD1330
HP:0000246HP:0000246Sinusitis0USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia8
HP:0000246HP:0000246Sinusitis0WAS CL E G H745412731ORPHA:906Wiskott-Aldrich syndromeHP:0040281 - Very frequent65
HP:0000246HP:0000246Sinusitis0WAS CL E G H745412731OMIM:301000Wiskott-Aldrich syndrome65
HP:0000246HP:0000246Sinusitis0WIPF1 CL E G H745612736ORPHA:906Wiskott-Aldrich syndromeHP:0040281 - Very frequent6
HP:0000246HP:0000246Sinusitis0ZMYND10 CL E G H5136419412OMIM:615444Ciliary dyskinesia, primary, 22.20
HP:0000246HP:0000246Sinusitis0ZMYND10 CL E G H5136419412ORPHA:244Primary ciliary dyskinesia20
HP:0000246HP:0000255Acute sinusitis1 CL E G H
HP:0000246HP:0011108Recurrent sinusitis1ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation.16
HP:0000246HP:0011108Recurrent sinusitis1ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0000246HP:0011108Recurrent sinusitis1ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040282 - Frequent404
HP:0000246HP:0011109Chronic sinusitis1BLNK CL E G H2976014211OMIM:613502Agammaglobulinemia 4, autosomal recessive.4
HP:0000246HP:0011108Recurrent sinusitis1BTK CL E G H6951133OMIM:300755Agammaglobulinemia, X-linked109
HP:0000246HP:0011108Recurrent sinusitis1C4B CL E G H7211324OMIM:614379Complement component 4B deficiency1
HP:0000246HP:0011109Chronic sinusitis1CCDC103 CL E G H38838932700OMIM:614679Ciliary dyskinesia, primary, 17.36
HP:0000246HP:0011109Chronic sinusitis1CCDC103 CL E G H38838932700ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent36
HP:0000246HP:0011109Chronic sinusitis1CCDC39 CL E G H33982925244OMIM:613807Ciliary dyskinesia, primary, 14126
HP:0000246HP:0011109Chronic sinusitis1CCDC39 CL E G H33982925244ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent126
HP:0000246HP:0011109Chronic sinusitis1CCDC40 CL E G H5503626090OMIM:613808CILIARY DYSKINESIA, PRIMARY, 15; CILD15182
HP:0000246HP:0011109Chronic sinusitis1CCDC40 CL E G H5503626090ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent182
HP:0000246HP:0011109Chronic sinusitis1CCDC65 CL E G H8547829937OMIM:615504Ciliary dyskinesia, primary, 2723
HP:0000246HP:0011108Recurrent sinusitis1CCDC65 CL E G H8547829937OMIM:615504Ciliary dyskinesia, primary, 27.23
HP:0000246HP:0011109Chronic sinusitis1CCDC65 CL E G H8547829937ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent23
HP:0000246HP:0011109Chronic sinusitis1CCNO CL E G H1030918576ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent23
HP:0000246HP:0011108Recurrent sinusitis1CD19 CL E G H9301633OMIM:240500Immunodeficiency, common variable, 238
HP:0000246HP:0011108Recurrent sinusitis1CD19 CL E G H9301633OMIM:613493IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID338
HP:0000246HP:0011109Chronic sinusitis1CD79B CL E G H9741699OMIM:612692Agammaglobulinemia 6, autosomal recessive.6
HP:0000246HP:0011109Chronic sinusitis1CFAP221 CL E G H20037333720ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000246HP:0011108Recurrent sinusitis1CFAP298 CL E G H566831301OMIM:615500Ciliary dyskinesia, primary, 26
HP:0000246HP:0011109Chronic sinusitis1CFAP298 CL E G H566831301ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000246HP:0011109Chronic sinusitis1CFAP300 CL E G H8501628188OMIM:618063Ciliary dyskinesia, primary, 38.
HP:0000246HP:0011109Chronic sinusitis1CFAP300 CL E G H8501628188ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000246HP:0011109Chronic sinusitis1CFAP45 CL E G H2579017229OMIM:619608HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0000246HP:0011109Chronic sinusitis1CFAP52 CL E G H14684516053OMIM:619607HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10
HP:0000246HP:0011108Recurrent sinusitis1CFI CL E G H34265394OMIM:610984Complement factor I deficiency.57
HP:0000246HP:0011109Chronic sinusitis1CFTR CL E G H10801884OMIM:219700Cystic fibrosis1371
HP:0000246HP:0011108Recurrent sinusitis1COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I660
HP:0000246HP:0011108Recurrent sinusitis1COL5A2 CL E G H12902210OMIM:130010Ehlers-Danlos syndrome, classic type, 2325
HP:0000246HP:0011108Recurrent sinusitis1CR2 CL E G H13802336OMIM:240500Immunodeficiency, common variable, 210
HP:0000246HP:0011108Recurrent sinusitis1DNAAF1 CL E G H12387230539OMIM:613193Ciliary dyskinesia, primary, 13116
HP:0000246HP:0011109Chronic sinusitis1DNAAF1 CL E G H12387230539ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent116
HP:0000246HP:0011108Recurrent sinusitis1DNAAF11 CL E G H2363916725OMIM:614935Ciliary dyskinesia, primary, 19.
HP:0000246HP:0011109Chronic sinusitis1DNAAF11 CL E G H2363916725ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000246HP:0011108Recurrent sinusitis1DNAAF2 CL E G H5517220188OMIM:612518CILIARY DYSKINESIA, PRIMARY, 10; CILD1078
HP:0000246HP:0011109Chronic sinusitis1DNAAF2 CL E G H5517220188OMIM:612518CILIARY DYSKINESIA, PRIMARY, 10; CILD1078
HP:0000246HP:0011109Chronic sinusitis1DNAAF2 CL E G H5517220188ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent78
HP:0000246HP:0011109Chronic sinusitis1DNAAF3 CL E G H35290930492ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent63
HP:0000246HP:0011108Recurrent sinusitis1DNAAF4 CL E G H16158221493OMIM:615482Ciliary dyskinesia, primary, 25.27
HP:0000246HP:0011109Chronic sinusitis1DNAAF4 CL E G H16158221493ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent27
HP:0000246HP:0011108Recurrent sinusitis1DNAAF5 CL E G H5491926013OMIM:614874Ciliary dyskinesia, primary, 18.62
HP:0000246HP:0011109Chronic sinusitis1DNAAF5 CL E G H5491926013ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent62
HP:0000246HP:0011108Recurrent sinusitis1DNAAF6 CL E G H13921228570OMIM:300991Ciliary dyskinesia, primary, 36, X-linked.
HP:0000246HP:0011109Chronic sinusitis1DNAAF6 CL E G H13921228570ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000246HP:0011109Chronic sinusitis1DNAH1 CL E G H259812940ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent21
HP:0000246HP:0011109Chronic sinusitis1DNAH11 CL E G H87012942ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent542
HP:0000246HP:0011108Recurrent sinusitis1DNAH5 CL E G H17672950OMIM:608644CILIARY DYSKINESIA, PRIMARY, 3; CILD3527
HP:0000246HP:0011109Chronic sinusitis1DNAH5 CL E G H17672950ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent527
HP:0000246HP:0011109Chronic sinusitis1DNAH9 CL E G H17702953OMIM:618300Ciliary dyskinesia, primary, 4018
HP:0000246HP:0011109Chronic sinusitis1DNAH9 CL E G H17702953ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent18
HP:0000246HP:0011109Chronic sinusitis1DNAI1 CL E G H270192954OMIM:244400Ciliary dyskinesia, primary, 1.73
HP:0000246HP:0011109Chronic sinusitis1DNAI1 CL E G H270192954ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent73
HP:0000246HP:0011109Chronic sinusitis1DNAI2 CL E G H6444618744OMIM:612444CILIARY DYSKINESIA, PRIMARY, 9; CILD9104
HP:0000246HP:0011108Recurrent sinusitis1DNAI2 CL E G H6444618744OMIM:612444CILIARY DYSKINESIA, PRIMARY, 9; CILD9104
HP:0000246HP:0011109Chronic sinusitis1DNAI2 CL E G H6444618744ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent104
HP:0000246HP:0011108Recurrent sinusitis1DNAJB13 CL E G H37440730718OMIM:617091CILIARY DYSKINESIA, PRIMARY, 34; CILD342
HP:0000246HP:0011109Chronic sinusitis1DNAJB13 CL E G H37440730718ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent2
HP:0000246HP:0011109Chronic sinusitis1DNAL1 CL E G H8354423247OMIM:614017CILIARY DYSKINESIA, PRIMARY, 16; CILD16167
HP:0000246HP:0011109Chronic sinusitis1DNAL1 CL E G H8354423247ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent167
HP:0000246HP:0011108Recurrent sinusitis1DOCK8 CL E G H8170419191ORPHA:217390Combined immunodeficiency due to DOCK8 deficiencyHP:0040281 - Very frequent217
HP:0000246HP:0011108Recurrent sinusitis1DOCK8 CL E G H8170419191OMIM:243700Hyper-Ige recurrent infection syndrome, autosomal recessive217
HP:0000246HP:0011109Chronic sinusitis1DRC1 CL E G H9274924245OMIM:615294CILIARY DYSKINESIA, PRIMARY, 21; CILD2144
HP:0000246HP:0011109Chronic sinusitis1DRC1 CL E G H9274924245ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent44
HP:0000246HP:0011109Chronic sinusitis1FCGR2A CL E G H22123616OMIM:219700Cystic fibrosis6
HP:0000246HP:0011108Recurrent sinusitis1FCGR3A CL E G H22143619OMIM:615707Immunodeficiency 204
HP:0000246HP:0011109Chronic sinusitis1FOXJ1 CL E G H23023816OMIM:618699CILIARY DYSKINESIA, PRIMARY, 43; CILD43
HP:0000246HP:0011109Chronic sinusitis1FOXJ1 CL E G H23023816ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000246HP:0011108Recurrent sinusitis1GAS2L2 CL E G H24617624846OMIM:618449Ciliary dyskinesia, primary, 411
HP:0000246HP:0011109Chronic sinusitis1GAS2L2 CL E G H24617624846ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent1
HP:0000246HP:0011109Chronic sinusitis1GAS8 CL E G H26224166ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent9
HP:0000246HP:0011108Recurrent sinusitis1HYDIN CL E G H5476819368OMIM:608647Ciliary dyskinesia, primary, 5.21
HP:0000246HP:0011109Chronic sinusitis1HYDIN CL E G H5476819368ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent21
HP:0000246HP:0011108Recurrent sinusitis1ICOS CL E G H298515351OMIM:607594Immunodeficiency, common variable, 1.32
HP:0000246HP:0011108Recurrent sinusitis1ICOS CL E G H298515351OMIM:240500Immunodeficiency, common variable, 232
HP:0000246HP:0011109Chronic sinusitis1IGHG2 CL E G H35015526ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency1
HP:0000246HP:0011108Recurrent sinusitis1IGHM CL E G H35075541OMIM:601495Agammaglobulinemia 1, autosomal recessive.7
HP:0000246HP:0011109Chronic sinusitis1IGKC CL E G H35145716ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency5
HP:0000246HP:0011108Recurrent sinusitis1IKBKB CL E G H35515960OMIM:618204IMMUNODEFICIENCY 15A; IMD15A4
HP:0000246HP:0011108Recurrent sinusitis1IL17RA CL E G H237655985OMIM:613953Immunodeficiency 51196
HP:0000246HP:0011108Recurrent sinusitis1IL21R CL E G H506156006OMIM:615207IMMUNODEFICIENCY 56; IMD567
HP:0000246HP:0011108Recurrent sinusitis1IRF2BP2 CL E G H35994821729OMIM:617765IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID144
HP:0000246HP:0011108Recurrent sinusitis1IVNS1ABP CL E G H1062516951OMIM:618969IMMUNODEFICIENCY 70; IMD70
HP:0000246HP:0011108Recurrent sinusitis1LRBA CL E G H9871742OMIM:614700IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID845
HP:0000246HP:0011109Chronic sinusitis1LRRC56 CL E G H11539925430ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000246HP:0011108Recurrent sinusitis1MAGT1 CL E G H8406128880OMIM:300853IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN17
HP:0000246HP:0011108Recurrent sinusitis1MCIDAS CL E G H34564340050OMIM:618695CILIARY DYSKINESIA, PRIMARY, 42; CILD4213
HP:0000246HP:0011109Chronic sinusitis1MCIDAS CL E G H34564340050ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent13
HP:0000246HP:0011108Recurrent sinusitis1MDM4 CL E G H41946974OMIM:618849BONE MARROW FAILURE SYNDROME 6; BMFS61
HP:0000246HP:0011108Recurrent sinusitis1MGP CL E G H42567060ORPHA:85202Keutel syndromeHP:0040282 - Frequent33
HP:0000246HP:0011109Chronic sinusitis1MGP CL E G H42567060OMIM:245150Keutel syndrome.33
HP:0000246HP:0011108Recurrent sinusitis1NCF4 CL E G H46897662OMIM:613960Chronic granulomatous disease 3, autosomal recessive.37
HP:0000246HP:0011108Recurrent sinusitis1NEK10 CL E G H15211018592OMIM:618781CILIARY DYSKINESIA, PRIMARY, 44; CILD44
HP:0000246HP:0011109Chronic sinusitis1NEK10 CL E G H15211018592ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000246HP:0011108Recurrent sinusitis1NFKB1 CL E G H47907794OMIM:616576IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID127
HP:0000246HP:0011108Recurrent sinusitis1NFKB2 CL E G H47917795ORPHA:293978Deficiency in anterior pituitary function-variable immunodeficiency syndromeHP:0040281 - Very frequent11
HP:0000246HP:0011108Recurrent sinusitis1NFKB2 CL E G H47917795OMIM:615577Immunodeficiency, common variable, 1011
HP:0000246HP:0011108Recurrent sinusitis1NME5 CL E G H83827853OMIM:620032
HP:0000246HP:0011108Recurrent sinusitis1NME8 CL E G H5131416473OMIM:610852Ciliary dyskinesia, primary, 6.50
HP:0000246HP:0011109Chronic sinusitis1NME8 CL E G H5131416473ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent50
HP:0000246HP:0011108Recurrent sinusitis1ODAD1 CL E G H9323326560OMIM:615067Ciliary dyskinesia, primary, 20.
HP:0000246HP:0011109Chronic sinusitis1ODAD1 CL E G H9323326560ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000246HP:0011108Recurrent sinusitis1ODAD2 CL E G H5513025583OMIM:615451CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0000246HP:0011109Chronic sinusitis1ODAD2 CL E G H5513025583ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000246HP:0011109Chronic sinusitis1ODAD3 CL E G H11594828303OMIM:616037Ciliary dyskinesia, primary, 30
HP:0000246HP:0011109Chronic sinusitis1ODAD3 CL E G H11594828303ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000246HP:0011109Chronic sinusitis1ODAD4 CL E G H8353825280OMIM:617092Ciliary dyskinesia, primary, 35.
HP:0000246HP:0011109Chronic sinusitis1ODAD4 CL E G H8353825280ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000246HP:0011109Chronic sinusitis1OFD1 CL E G H84812567ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent201
HP:0000246HP:0011109Chronic sinusitis1PGM3 CL E G H52388907ORPHA:443811PGM3-CDGHP:0040283 - Occasional15
HP:0000246HP:0011108Recurrent sinusitis1PIK3CD CL E G H52938977OMIM:619281IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B9
HP:0000246HP:0011108Recurrent sinusitis1PRKCD CL E G H55809399OMIM:615559AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS310
HP:0000246HP:0011108Recurrent sinusitis1PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0000246HP:0011108Recurrent sinusitis1RAC2 CL E G H58809802OMIM:618986IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B9
HP:0000246HP:0011109Chronic sinusitis1RNF168 CL E G H16591826661ORPHA:420741RIDDLE syndromeHP:0040282 - Frequent7
HP:0000246HP:0011108Recurrent sinusitis1RNF168 CL E G H16591826661ORPHA:420741RIDDLE syndromeHP:0040282 - Frequent7
HP:0000246HP:0011109Chronic sinusitis1RPGR CL E G H610310295ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent200
HP:0000246HP:0011109Chronic sinusitis1RPGR CL E G H610310295OMIM:300455RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS200
HP:0000246HP:0011108Recurrent sinusitis1RSPH1 CL E G H8976512371OMIM:615481Ciliary dyskinesia, primary, 24.31
HP:0000246HP:0011109Chronic sinusitis1RSPH1 CL E G H8976512371ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent31
HP:0000246HP:0011109Chronic sinusitis1RSPH3 CL E G H8386121054OMIM:616481Ciliary dyskinesia, primary, 325
HP:0000246HP:0011109Chronic sinusitis1RSPH3 CL E G H8386121054ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent5
HP:0000246HP:0011108Recurrent sinusitis1RSPH4A CL E G H34589521558OMIM:612649Ciliary dyskinesia, primary, 1158
HP:0000246HP:0011109Chronic sinusitis1RSPH4A CL E G H34589521558ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent58
HP:0000246HP:0011109Chronic sinusitis1RSPH9 CL E G H22142121057OMIM:612650CILIARY DYSKINESIA, PRIMARY, 12; CILD1220
HP:0000246HP:0011109Chronic sinusitis1RSPH9 CL E G H22142121057ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent20
HP:0000246HP:0011109Chronic sinusitis1SASH3 CL E G H5444015975OMIM:3010821
HP:0000246HP:0011108Recurrent sinusitis1SASH3 CL E G H5444015975OMIM:3010821
HP:0000246HP:0011108Recurrent sinusitis1SH3KBP1 CL E G H3001113867OMIM:300310Immunodeficiency 61.2
HP:0000246HP:0011108Recurrent sinusitis1SPAG1 CL E G H667411212OMIM:615505Ciliary dyskinesia, primary, 28.45
HP:0000246HP:0011109Chronic sinusitis1SPAG1 CL E G H667411212ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent45
HP:0000246HP:0011109Chronic sinusitis1SPEF2 CL E G H7992526293ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent15
HP:0000246HP:0011108Recurrent sinusitis1SPI1 CL E G H668811241OMIM:619707AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0000246HP:0011108Recurrent sinusitis1STK36 CL E G H2714817209OMIM:619436CILIARY DYSKINESIA, PRIMARY, 46; CILD463
HP:0000246HP:0011109Chronic sinusitis1STK36 CL E G H2714817209ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent3
HP:0000246HP:0011108Recurrent sinusitis1STXBP2 CL E G H681311445OMIM:613101HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL570
HP:0000246HP:0011109Chronic sinusitis1TAP1 CL E G H689043OMIM:604571Bare lymphocyte syndrome, type I.5
HP:0000246HP:0011109Chronic sinusitis1TAP2 CL E G H689144OMIM:604571Bare lymphocyte syndrome, type I.17
HP:0000246HP:0011109Chronic sinusitis1TAPBP CL E G H689211566OMIM:604571Bare lymphocyte syndrome, type I.3
HP:0000246HP:0011108Recurrent sinusitis1TBX1 CL E G H689911592OMIM:188400Digeorge syndrome32
HP:0000246HP:0011109Chronic sinusitis1TGFB1 CL E G H704011766OMIM:219700Cystic fibrosis13
HP:0000246HP:0011108Recurrent sinusitis1TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0000246HP:0011108Recurrent sinusitis1TNFRSF13B CL E G H2349518153OMIM:240500Immunodeficiency, common variable, 232
HP:0000246HP:0011108Recurrent sinusitis1TNFRSF13C CL E G H11565017755OMIM:240500Immunodeficiency, common variable, 212
HP:0000246HP:0011108Recurrent sinusitis1TNFRSF13C CL E G H11565017755OMIM:613494Immunodeficiency, common variable, 412
HP:0000246HP:0011109Chronic sinusitis1TTC12 CL E G H5497023700ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000246HP:0011108Recurrent sinusitis1UNC119 CL E G H909412565OMIM:615518IMMUNODEFICIENCY 13; IMD1330
HP:0000246HP:0011108Recurrent sinusitis1USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia8
HP:0000246HP:0011108Recurrent sinusitis1WAS CL E G H745412731OMIM:301000Wiskott-Aldrich syndrome65
HP:0000246HP:0011108Recurrent sinusitis1ZMYND10 CL E G H5136419412OMIM:615444Ciliary dyskinesia, primary, 22.20
HP:0000246HP:0011109Chronic sinusitis1ZMYND10 CL E G H5136419412ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent20


Genes (159) :ACP5 ADA ADA2 ALMS1 ATM BLNK BTK C4B CCDC103 CCDC39 CCDC40 CCDC65 CCNO CD19 CD79A CD79B CEACAM3 CEACAM6 CFAP221 CFAP298 CFAP300 CFAP45 CFAP52 CFI CFTR CIITA CLCA4 COL5A1 COL5A2 CR2 CTLA4 CXCR4 CYBA CYBB CYBC1 DCTN4 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJC21 DNAL1 DNMT3B DOCK8 DRC1 EDNRA EFL1 ELANE FCGR2A FCGR3A FMR1 FOXJ1 GAS2L2 GAS8 GCLC GSTM3 HFE HLA-DPA1 HLA-DPB1 HMOX1 HYDIN ICOS IGHG2 IGHM IGKC IGLL1 IGSF3 IKBKB IL17RA IL21R IL2RG IRF2BP2 IRF8 IVNS1ABP KCNN4 LRBA LRRC56 LRRC8A MAGT1 MCIDAS MDM4 MGP MIF NBN NCF1 NCF2 NCF4 NEK10 NF1 NFKB1 NFKB2 NME5 NME8 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PGM3 PIK3CD PIK3R1 PNP PRKCD PRTN3 PSMB4 PSMB8 PSMB9 PTPN22 RAC2 RFX5 RFXANK RFXAP RNF168 RPGR RSPH1 RSPH3 RSPH4A RSPH9 RUNX2 SASH3 SBDS SERPINA1 SH3KBP1 SLC11A1 SLC26A9 SLC6A14 SLC9A3 SPAG1 SPEF2 SPI1 SRP54 STK36 STX1A STXBP2 TAP1 TAP2 TAPBP TBX1 TCF3 TGFB1 TMCO1 TNFRSF13B TNFRSF13C TTC12 UNC119 USB1 WAS WIPF1 ZMYND10

Diseases (116) :OMIM:607944 ORPHA:277 OMIM:102700 OMIM:615688 ORPHA:64 OMIM:208900 OMIM:613502 ORPHA:33110 OMIM:300755 OMIM:307200 ORPHA:47 OMIM:614379 OMIM:614679 ORPHA:244 OMIM:613807 OMIM:613808 OMIM:615504 OMIM:240500 OMIM:613493 OMIM:612692 ORPHA:586 OMIM:615500 OMIM:618063 OMIM:619608 OMIM:619607 OMIM:610984 OMIM:219700 ORPHA:572 OMIM:130000 OMIM:130010 ORPHA:900 ORPHA:51636 ORPHA:379 OMIM:613193 OMIM:614935 OMIM:612518 OMIM:606763 OMIM:615482 OMIM:614874 OMIM:300991 OMIM:608644 OMIM:618300 OMIM:244400 OMIM:612444 OMIM:617091 ORPHA:811 OMIM:614017 OMIM:242860 ORPHA:217390 OMIM:243700 OMIM:615294 ORPHA:2686 OMIM:615707 ORPHA:908 OMIM:618699 OMIM:618449 OMIM:608647 OMIM:607594 ORPHA:183675 OMIM:601495 OMIM:149700 OMIM:618204 OMIM:613953 OMIM:615207 OMIM:312863 OMIM:617765 OMIM:226990 OMIM:618969 OMIM:614700 OMIM:300853 OMIM:618695 OMIM:618849 OMIM:245150 ORPHA:85202 OMIM:251260 OMIM:613960 OMIM:618781 ORPHA:363700 OMIM:616576 ORPHA:293978 OMIM:615577 OMIM:620032 OMIM:610852 OMIM:615067 OMIM:615451 OMIM:616037 OMIM:617092 ORPHA:443811 OMIM:619281 OMIM:613179 OMIM:615559 OMIM:617591 OMIM:256040 OMIM:618986 ORPHA:420741 OMIM:300455 OMIM:615481 OMIM:616481 OMIM:612649 OMIM:612650 ORPHA:1452 OMIM:301082 OMIM:300310 OMIM:615505 OMIM:619707 OMIM:619436 OMIM:613101 OMIM:604571 OMIM:188400 OMIM:213980 OMIM:613494 OMIM:615518 OMIM:604173 ORPHA:906 OMIM:301000 OMIM:615444
 

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