Human Phenotype Ontology 
Grandparent Node:
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Abnormal inflammatory response (HP:0012647)help
Parent Node:
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Abnormality of the middle ear (HP:0000370)help
Parent Node:
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Increased inflammatory response (HP:0012649)help
..Starting node
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Otitis media (HP:0000388)help
Term ID: 388
Name: Otitis media
Synonym: Middle ear infection
Definition: Inflammation or infection of the middle ear.
Comments:
Reference: HP:0000388
Genes and Diseases:
 
       Child Nodes:
........expandAcute otitis media (HP:0000371) help
........expandChronic otitis media (HP:0000389) help
........expandRecurrent otitis media (HP:0000403) help
........expandOtitis media with effusion (HP:0031353) 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
..expandPancreatitis (HP:0001733) help
..expandPanniculitis (HP:0012490) help
..expandPeriodontitis (HP:0000704) help
..expandPneumonia (HP:0002090) help
..expandProstatitis (HP:0000024) help
..expandSerositis (HP:0045073) help
..expandSinusitis (HP:0000246) 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:0000388HP:0000388Otitis media0A2ML1 CL E G H14456823336OMIM:166760Otitis media, susceptibility to120
HP:0000388HP:0000388Otitis media0ABCA12 CL E G H2615414637ORPHA:313Lamellar ichthyosis130
HP:0000388HP:0000388Otitis media0ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation16
HP:0000388HP:0000388Otitis media0ADA CL E G H100186ORPHA:277Severe combined immunodeficiency due to adenosine deaminase deficiency75
HP:0000388HP:0000388Otitis media0ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0000388HP:0000388Otitis media0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndrome9
HP:0000388HP:0000388Otitis media0ADAT3 CL E G H11317925151OMIM:615286Mental retardation, autosomal recessive 369
HP:0000388HP:0000388Otitis media0AGA CL E G H175318ORPHA:93Aspartylglucosaminuria76
HP:0000388HP:0000388Otitis media0AK2 CL E G H204362ORPHA:33355Reticular dysgenesis19
HP:0000388HP:0000388Otitis media0ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040281 - Very frequent404
HP:0000388HP:0000388Otitis media0ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome.404
HP:0000388HP:0000388Otitis media0ALOX12B CL E G H242430ORPHA:313Lamellar ichthyosis75
HP:0000388HP:0000388Otitis media0ALOXE3 CL E G H5934413743ORPHA:313Lamellar ichthyosis63
HP:0000388HP:0000388Otitis media0ANAPC1 CL E G H6468219988OMIM:618625ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS12
HP:0000388HP:0000388Otitis media0ANKRD11 CL E G H2912321316ORPHA:26125016q24.3 microdeletion syndrome102
HP:0000388HP:0000388Otitis media0AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0000388HP:0000388Otitis media0APC2 CL E G H1029724036ORPHA:821Sotos syndrome1
HP:0000388HP:0000388Otitis media0ARHGAP29 CL E G H941130207ORPHA:199306Cleft lip/palate6
HP:0000388HP:0000388Otitis media0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndrome1
HP:0000388HP:0000388Otitis media0ASPRV1 CL E G H15151626321ORPHA:313Lamellar ichthyosis1
HP:0000388HP:0000388Otitis media0ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies16
HP:0000388HP:0000388Otitis media0BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0000388HP:0000388Otitis media0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0000388HP:0000388Otitis media0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0000388HP:0000388Otitis media0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1101
HP:0000388HP:0000388Otitis media0BLM CL E G H6411058ORPHA:125Bloom syndromeHP:0040282 - Frequent314
HP:0000388HP:0000388Otitis media0BLNK CL E G H2976014211OMIM:613502Agammaglobulinemia 4, autosomal recessive4
HP:0000388HP:0000388Otitis media0BLNK CL E G H2976014211ORPHA:33110Autosomal agammaglobulinemia4
HP:0000388HP:0000388Otitis media0BMP4 CL E G H6521071ORPHA:199306Cleft lip/palate38
HP:0000388HP:0000388Otitis media0BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndrome2
HP:0000388HP:0000388Otitis media0BTK CL E G H6951133OMIM:300755Agammaglobulinemia, X-linked.109
HP:0000388HP:0000388Otitis media0BTK CL E G H6951133OMIM:307200Isolated growth hormone deficiency, type III, with agammaglobulinemia109
HP:0000388HP:0000388Otitis media0BTK CL E G H6951133ORPHA:47X-linked agammaglobulinemia109
HP:0000388HP:0000388Otitis media0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0000388HP:0000388Otitis media0C4B CL E G H7211324OMIM:614379Complement component 4B deficiency1
HP:0000388HP:0000388Otitis media0CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0000388HP:0000388Otitis media0CCDC103 CL E G H38838932700ORPHA:244Primary ciliary dyskinesia36
HP:0000388HP:0000388Otitis media0CCDC39 CL E G H33982925244OMIM:613807Ciliary dyskinesia, primary, 14.126
HP:0000388HP:0000388Otitis media0CCDC39 CL E G H33982925244ORPHA:244Primary ciliary dyskinesia126
HP:0000388HP:0000388Otitis media0CCDC40 CL E G H5503626090OMIM:613808CILIARY DYSKINESIA, PRIMARY, 15; CILD15182
HP:0000388HP:0000388Otitis media0CCDC40 CL E G H5503626090ORPHA:244Primary ciliary dyskinesia182
HP:0000388HP:0000388Otitis media0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome.
HP:0000388HP:0000388Otitis media0CCDC65 CL E G H8547829937OMIM:615504Ciliary dyskinesia, primary, 2723
HP:0000388HP:0000388Otitis media0CCDC65 CL E G H8547829937ORPHA:244Primary ciliary dyskinesia23
HP:0000388HP:0000388Otitis media0CCNO CL E G H1030918576ORPHA:244Primary ciliary dyskinesia23
HP:0000388HP:0000388Otitis media0CD19 CL E G H9301633ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent38
HP:0000388HP:0000388Otitis media0CD19 CL E G H9301633OMIM:240500Immunodeficiency, common variable, 238
HP:0000388HP:0000388Otitis media0CD19 CL E G H9301633OMIM:613493IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID338
HP:0000388HP:0000388Otitis media0CD247 CL E G H9191677ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zetaHP:0040283 - Occasional8
HP:0000388HP:0000388Otitis media0CD3D CL E G H9151673OMIM:615617Immunodeficiency 1918
HP:0000388HP:0000388Otitis media0CD3D CL E G H9151673ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zetaHP:0040283 - Occasional18
HP:0000388HP:0000388Otitis media0CD3E CL E G H9161674OMIM:615615Immunodeficiency 1824
HP:0000388HP:0000388Otitis media0CD3E CL E G H9161674ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zetaHP:0040283 - Occasional24
HP:0000388HP:0000388Otitis media0CD3G CL E G H9171675OMIM:615607Immunodeficiency 1719
HP:0000388HP:0000388Otitis media0CD4 CL E G H9201678OMIM:619238IMMUNODEFICIENCY 79; IMD791
HP:0000388HP:0000388Otitis media0CD79A CL E G H9731698OMIM:613501Agammaglobulinemia 3, autosomal recessive9
HP:0000388HP:0000388Otitis media0CD79A CL E G H9731698ORPHA:33110Autosomal agammaglobulinemia9
HP:0000388HP:0000388Otitis media0CD79B CL E G H9741699OMIM:612692Agammaglobulinemia 6, autosomal recessive6
HP:0000388HP:0000388Otitis media0CD79B CL E G H9741699ORPHA:33110Autosomal agammaglobulinemia6
HP:0000388HP:0000388Otitis media0CD81 CL E G H9751701ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent1
HP:0000388HP:0000388Otitis media0CDC42BPB CL E G H95781738OMIM:619841
HP:0000388HP:0000388Otitis media0CDH1 CL E G H9991748ORPHA:199306Cleft lip/palate1003
HP:0000388HP:0000388Otitis media0CFAP221 CL E G H20037333720ORPHA:244Primary ciliary dyskinesia
HP:0000388HP:0000388Otitis media0CFAP298 CL E G H566831301OMIM:615500Ciliary dyskinesia, primary, 26
HP:0000388HP:0000388Otitis media0CFAP298 CL E G H566831301ORPHA:244Primary ciliary dyskinesia
HP:0000388HP:0000388Otitis media0CFAP300 CL E G H8501628188OMIM:618063Ciliary dyskinesia, primary, 38
HP:0000388HP:0000388Otitis media0CFAP300 CL E G H8501628188ORPHA:244Primary ciliary dyskinesia
HP:0000388HP:0000388Otitis media0CFAP45 CL E G H2579017229OMIM:619608HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0000388HP:0000388Otitis media0CFAP52 CL E G H14684516053OMIM:619607HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10
HP:0000388HP:0000388Otitis media0CFI CL E G H34265394OMIM:610984Complement factor I deficiency57
HP:0000388HP:0000388Otitis media0CIITA CL E G H42617067ORPHA:572Immunodeficiency by defective expression of MHC class II118
HP:0000388HP:0000388Otitis media0CLCN7 CL E G H11862025ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent102
HP:0000388HP:0000388Otitis media0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0000388HP:0000388Otitis media0COL11A1 CL E G H13012186OMIM:154780Marshall syndrome215
HP:0000388HP:0000388Otitis media0COL2A1 CL E G H12802200OMIM:156550Kniest dysplasia284
HP:0000388HP:0000388Otitis media0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndrome6
HP:0000388HP:0000388Otitis media0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndrome1
HP:0000388HP:0000388Otitis media0CR2 CL E G H13802336ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent10
HP:0000388HP:0000388Otitis media0CR2 CL E G H13802336OMIM:240500Immunodeficiency, common variable, 210
HP:0000388HP:0000388Otitis media0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040283 - Occasional291
HP:0000388HP:0000388Otitis media0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040283 - Occasional291
HP:0000388HP:0000388Otitis media0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndrome2
HP:0000388HP:0000388Otitis media0CTLA4 CL E G H14932505ORPHA:900Granulomatosis with polyangiitisHP:0040281 - Very frequent10
HP:0000388HP:0000388Otitis media0CXCR4 CL E G H78522561ORPHA:51636WHIM syndromeHP:0040283 - Occasional9
HP:0000388HP:0000388Otitis media0CYBA CL E G H15352577ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent27
HP:0000388HP:0000388Otitis media0CYBB CL E G H15362578ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent111
HP:0000388HP:0000388Otitis media0CYBC1 CL E G H7941528672ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent
HP:0000388HP:0000388Otitis media0CYP4F22 CL E G H12641026820ORPHA:313Lamellar ichthyosis54
HP:0000388HP:0000388Otitis media0DCLRE1C CL E G H6442117642ORPHA:275Severe combined immunodeficiency due to DCLRE1C deficiencyHP:0040283 - Occasional94
HP:0000388HP:0000388Otitis media0DCLRE1C CL E G H6442117642OMIM:602450Severe combined immunodeficiency with sensitivity to ionizing radiation.94
HP:0000388HP:0000388Otitis media0DDB1 CL E G H16422717OMIM:619426WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000388HP:0000388Otitis media0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndrome33
HP:0000388HP:0000388Otitis media0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0000388HP:0000388Otitis media0DLG1 CL E G H17392900ORPHA:199306Cleft lip/palate
HP:0000388HP:0000388Otitis media0DLK1 CL E G H87882907ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 141
HP:0000388HP:0000388Otitis media0DLK1 CL E G H87882907ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylation1
HP:0000388HP:0000388Otitis media0DLX4 CL E G H17482917ORPHA:199306Cleft lip/palate1
HP:0000388HP:0000388Otitis media0DNAAF1 CL E G H12387230539OMIM:613193Ciliary dyskinesia, primary, 13116
HP:0000388HP:0000388Otitis media0DNAAF1 CL E G H12387230539ORPHA:244Primary ciliary dyskinesia116
HP:0000388HP:0000388Otitis media0DNAAF11 CL E G H2363916725OMIM:614935Ciliary dyskinesia, primary, 19
HP:0000388HP:0000388Otitis media0DNAAF11 CL E G H2363916725ORPHA:244Primary ciliary dyskinesia
HP:0000388HP:0000388Otitis media0DNAAF2 CL E G H5517220188OMIM:612518CILIARY DYSKINESIA, PRIMARY, 10; CILD1078
HP:0000388HP:0000388Otitis media0DNAAF2 CL E G H5517220188ORPHA:244Primary ciliary dyskinesia78
HP:0000388HP:0000388Otitis media0DNAAF3 CL E G H35290930492OMIM:606763Ciliary dyskinesia, primary, 2.63
HP:0000388HP:0000388Otitis media0DNAAF3 CL E G H35290930492ORPHA:244Primary ciliary dyskinesia63
HP:0000388HP:0000388Otitis media0DNAAF4 CL E G H16158221493ORPHA:244Primary ciliary dyskinesia27
HP:0000388HP:0000388Otitis media0DNAAF5 CL E G H5491926013OMIM:614874Ciliary dyskinesia, primary, 1862
HP:0000388HP:0000388Otitis media0DNAAF5 CL E G H5491926013ORPHA:244Primary ciliary dyskinesia62
HP:0000388HP:0000388Otitis media0DNAAF6 CL E G H13921228570ORPHA:244Primary ciliary dyskinesia
HP:0000388HP:0000388Otitis media0DNAH1 CL E G H259812940ORPHA:244Primary ciliary dyskinesia21
HP:0000388HP:0000388Otitis media0DNAH11 CL E G H87012942OMIM:611884CILIARY DYSKINESIA, PRIMARY, 7; CILD7542
HP:0000388HP:0000388Otitis media0DNAH11 CL E G H87012942ORPHA:244Primary ciliary dyskinesia542
HP:0000388HP:0000388Otitis media0DNAH5 CL E G H17672950OMIM:608644CILIARY DYSKINESIA, PRIMARY, 3; CILD3527
HP:0000388HP:0000388Otitis media0DNAH5 CL E G H17672950ORPHA:244Primary ciliary dyskinesia527
HP:0000388HP:0000388Otitis media0DNAH9 CL E G H17702953ORPHA:244Primary ciliary dyskinesia18
HP:0000388HP:0000388Otitis media0DNAI1 CL E G H270192954OMIM:244400Ciliary dyskinesia, primary, 173
HP:0000388HP:0000388Otitis media0DNAI1 CL E G H270192954ORPHA:244Primary ciliary dyskinesia73
HP:0000388HP:0000388Otitis media0DNAI2 CL E G H6444618744OMIM:612444CILIARY DYSKINESIA, PRIMARY, 9; CILD9104
HP:0000388HP:0000388Otitis media0DNAI2 CL E G H6444618744ORPHA:244Primary ciliary dyskinesia104
HP:0000388HP:0000388Otitis media0DNAJB13 CL E G H37440730718ORPHA:244Primary ciliary dyskinesia2
HP:0000388HP:0000388Otitis media0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0000388HP:0000388Otitis media0DNAL1 CL E G H8354423247OMIM:614017CILIARY DYSKINESIA, PRIMARY, 16; CILD16167
HP:0000388HP:0000388Otitis media0DNAL1 CL E G H8354423247ORPHA:244Primary ciliary dyskinesia167
HP:0000388HP:0000388Otitis media0DOCK2 CL E G H17942988OMIM:616433Immunodeficiency 406
HP:0000388HP:0000388Otitis media0DOCK8 CL E G H8170419191ORPHA:217390Combined immunodeficiency due to DOCK8 deficiency217
HP:0000388HP:0000388Otitis media0DOCK8 CL E G H8170419191OMIM:243700Hyper-Ige recurrent infection syndrome, autosomal recessive217
HP:0000388HP:0000388Otitis media0DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7
HP:0000388HP:0000388Otitis media0DRC1 CL E G H9274924245OMIM:615294CILIARY DYSKINESIA, PRIMARY, 21; CILD2144
HP:0000388HP:0000388Otitis media0DRC1 CL E G H9274924245ORPHA:244Primary ciliary dyskinesia44
HP:0000388HP:0000388Otitis media0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0000388HP:0000388Otitis media0ELANE CL E G H19913309ORPHA:2686Cyclic neutropeniaHP:0040283 - Occasional79
HP:0000388HP:0000388Otitis media0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0000388HP:0000388Otitis media0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0000388HP:0000388Otitis media0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040283 - Occasional250
HP:0000388HP:0000388Otitis media0FCGR3A CL E G H22143619OMIM:615707Immunodeficiency 204
HP:0000388HP:0000388Otitis media0FGF3 CL E G H22483681ORPHA:2791Otodental syndrome18
HP:0000388HP:0000388Otitis media0FGFR2 CL E G H22633689OMIM:101200Apert syndrome175
HP:0000388HP:0000388Otitis media0FGFR3 CL E G H22613690OMIM:100800ACHONDROPLASIA145
HP:0000388HP:0000388Otitis media0FGFR3 CL E G H22613690OMIM:616482Achondroplasia, severe, with developmental delay and acanthosis nigricans.145
HP:0000388HP:0000388Otitis media0FGFR3 CL E G H22613690OMIM:602849Muenke syndrome145
HP:0000388HP:0000388Otitis media0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0000388HP:0000388Otitis media0FLII CL E G H23143750ORPHA:819Smith-Magenis syndrome
HP:0000388HP:0000388Otitis media0FLNA CL E G H23163754OMIM:309350Melnick-Needles syndrome493
HP:0000388HP:0000388Otitis media0FMR1 CL E G H23323775ORPHA:908Fragile X syndromeHP:0040282 - Frequent30
HP:0000388HP:0000388Otitis media0FMR1 CL E G H23323775ORPHA:449291Symptomatic form of fragile X syndrome in female carriers30
HP:0000388HP:0000388Otitis media0FOCAD CL E G H5491423377OMIM:6199913
HP:0000388HP:0000388Otitis media0FOXJ1 CL E G H23023816ORPHA:244Primary ciliary dyskinesia
HP:0000388HP:0000388Otitis media0FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndrome184
HP:0000388HP:0000388Otitis media0G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive37
HP:0000388HP:0000388Otitis media0GAS2L2 CL E G H24617624846OMIM:618449Ciliary dyskinesia, primary, 411
HP:0000388HP:0000388Otitis media0GAS2L2 CL E G H24617624846ORPHA:244Primary ciliary dyskinesia1
HP:0000388HP:0000388Otitis media0GAS8 CL E G H26224166OMIM:616726Ciliary dyskinesia, primary, 339
HP:0000388HP:0000388Otitis media0GAS8 CL E G H26224166ORPHA:244Primary ciliary dyskinesia9
HP:0000388HP:0000388Otitis media0GATA2 CL E G H26244171ORPHA:3226Deafness-lymphedema-leukemia syndrome137
HP:0000388HP:0000388Otitis media0GLRA2 CL E G H27424327OMIM:301076INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0000388HP:0000388Otitis media0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000388HP:0000388Otitis media0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0000388HP:0000388Otitis media0GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type IIHP:0040282 - Frequent240
HP:0000388HP:0000388Otitis media0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0000388HP:0000388Otitis media0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndrome8
HP:0000388HP:0000388Otitis media0GRHL3 CL E G H5782225839ORPHA:99772Cleft velum12
HP:0000388HP:0000388Otitis media0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0000388HP:0000388Otitis media0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0000388HP:0000388Otitis media0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0000388HP:0000388Otitis media0GUSB CL E G H29904696OMIM:253220Mucopolysaccharidosis, type VII54
HP:0000388HP:0000388Otitis media0H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000388HP:0000388Otitis media0H4C5 CL E G H83674790OMIM:619950
HP:0000388HP:0000388Otitis media0HEPHL1 CL E G H34120830477OMIM:261990PILI TORTI AND DEVELOPMENTAL DELAY
HP:0000388HP:0000388Otitis media0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndrome3
HP:0000388HP:0000388Otitis media0HLA-DPA1 CL E G H31134938ORPHA:900Granulomatosis with polyangiitisHP:0040281 - Very frequent
HP:0000388HP:0000388Otitis media0HLA-DPB1 CL E G H31154940ORPHA:900Granulomatosis with polyangiitisHP:0040281 - Very frequent1
HP:0000388HP:0000388Otitis media0HYAL1 CL E G H33735320OMIM:601492Mucopolysaccharidosis type IX28
HP:0000388HP:0000388Otitis media0HYDIN CL E G H5476819368OMIM:608647Ciliary dyskinesia, primary, 521
HP:0000388HP:0000388Otitis media0HYDIN CL E G H5476819368ORPHA:244Primary ciliary dyskinesia21
HP:0000388HP:0000388Otitis media0ICOS CL E G H298515351ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent32
HP:0000388HP:0000388Otitis media0ICOS CL E G H298515351OMIM:607594Immunodeficiency, common variable, 132
HP:0000388HP:0000388Otitis media0ICOS CL E G H298515351OMIM:240500Immunodeficiency, common variable, 232
HP:0000388HP:0000388Otitis media0IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II86
HP:0000388HP:0000388Otitis media0IDUA CL E G H34255391OMIM:607014Hurler syndrome115
HP:0000388HP:0000388Otitis media0IGHG2 CL E G H35015526ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency1
HP:0000388HP:0000388Otitis media0IGHM CL E G H35075541OMIM:601495Agammaglobulinemia 1, autosomal recessive7
HP:0000388HP:0000388Otitis media0IGHM CL E G H35075541ORPHA:33110Autosomal agammaglobulinemia7
HP:0000388HP:0000388Otitis media0IGKC CL E G H35145716ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency5
HP:0000388HP:0000388Otitis media0IGLL1 CL E G H35435870OMIM:613500Agammaglobulinemia 2, autosomal recessive3
HP:0000388HP:0000388Otitis media0IGLL1 CL E G H35435870ORPHA:33110Autosomal agammaglobulinemia3
HP:0000388HP:0000388Otitis media0IKBKB CL E G H35515960OMIM:618204IMMUNODEFICIENCY 15A; IMD15A4
HP:0000388HP:0000388Otitis media0IL11RA CL E G H35905967OMIM:614188Craniosynostosis and dental anomalies8
HP:0000388HP:0000388Otitis media0IL17RA CL E G H237655985OMIM:613953Immunodeficiency 51196
HP:0000388HP:0000388Otitis media0IL21R CL E G H506156006OMIM:615207IMMUNODEFICIENCY 56; IMD567
HP:0000388HP:0000388Otitis media0IL2RB CL E G H35606009OMIM:618495Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0000388HP:0000388Otitis media0IL2RG CL E G H35616010OMIM:312863Combined immunodeficiency, X-linked.48
HP:0000388HP:0000388Otitis media0IL6R CL E G H35706019OMIM:618944HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES51
HP:0000388HP:0000388Otitis media0IL6ST CL E G H35726021OMIM:618523HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0000388HP:0000388Otitis media0IL7R CL E G H35756024OMIM:608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive.94
HP:0000388HP:0000388Otitis media0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndrome119
HP:0000388HP:0000388Otitis media0IRF2BP2 CL E G H35994821729ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent4
HP:0000388HP:0000388Otitis media0IRF6 CL E G H36646121ORPHA:199306Cleft lip/palate99
HP:0000388HP:0000388Otitis media0IRF6 CL E G H36646121ORPHA:199302Isolated cleft lip99
HP:0000388HP:0000388Otitis media0JAGN1 CL E G H8452226926OMIM:616022Neutropenia, severe congenital, 6, autosomal recessive8
HP:0000388HP:0000388Otitis media0JAK3 CL E G H37186193OMIM:600802Scid, autosomal recessive, T-Negative/b-Positive type140
HP:0000388HP:0000388Otitis media0JAK3 CL E G H37186193ORPHA:35078T-B+ severe combined immunodeficiency due to JAK3 deficiency140
HP:0000388HP:0000388Otitis media0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndrome2
HP:0000388HP:0000388Otitis media0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndrome283
HP:0000388HP:0000388Otitis media0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutation283
HP:0000388HP:0000388Otitis media0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0000388HP:0000388Otitis media0KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 153
HP:0000388HP:0000388Otitis media0KDM6A CL E G H740312637OMIM:300867Kabuki syndrome 253
HP:0000388HP:0000388Otitis media0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndrome
HP:0000388HP:0000388Otitis media0KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1660
HP:0000388HP:0000388Otitis media0KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512
HP:0000388HP:0000388Otitis media0LBR CL E G H39306518OMIM:169400Pelger-Huet anomaly70
HP:0000388HP:0000388Otitis media0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndrome2
HP:0000388HP:0000388Otitis media0LIG1 CL E G H39786598OMIM:619774IMMUNODEFICIENCY 96; IMD969
HP:0000388HP:0000388Otitis media0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0000388HP:0000388Otitis media0LIPN CL E G H64341823452ORPHA:313Lamellar ichthyosis1
HP:0000388HP:0000388Otitis media0LRBA CL E G H9871742OMIM:614700IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID845
HP:0000388HP:0000388Otitis media0LRRC56 CL E G H11539925430OMIM:618254CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0000388HP:0000388Otitis media0LRRC56 CL E G H11539925430ORPHA:244Primary ciliary dyskinesia
HP:0000388HP:0000388Otitis media0LRRC8A CL E G H5626219027ORPHA:33110Autosomal agammaglobulinemia3
HP:0000388HP:0000388Otitis media0MAGT1 CL E G H8406128880OMIM:300853IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN17
HP:0000388HP:0000388Otitis media0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040281 - Very frequent136
HP:0000388HP:0000388Otitis media0MAP3K7 CL E G H68856859OMIM:157800Cardiospondylocarpofacial syndrome11
HP:0000388HP:0000388Otitis media0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0000388HP:0000388Otitis media0MCIDAS CL E G H34564340050ORPHA:244Primary ciliary dyskinesia13
HP:0000388HP:0000388Otitis media0MEG3 CL E G H5538414575ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 141
HP:0000388HP:0000388Otitis media0MEG3 CL E G H5538414575ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylation1
HP:0000388HP:0000388Otitis media0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0000388HP:0000388Otitis media0MGP CL E G H42567060ORPHA:85202Keutel syndrome33
HP:0000388HP:0000388Otitis media0MGP CL E G H42567060OMIM:245150Keutel syndrome33
HP:0000388HP:0000388Otitis media0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0000388HP:0000388Otitis media0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0000388HP:0000388Otitis media0MNS1 CL E G H5532929636OMIM:618948HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9
HP:0000388HP:0000388Otitis media0MS4A1 CL E G H9317315ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent1
HP:0000388HP:0000388Otitis media0MSX1 CL E G H44877391ORPHA:199306Cleft lip/palate12
HP:0000388HP:0000388Otitis media0MSX1 CL E G H44877391ORPHA:199302Isolated cleft lip12
HP:0000388HP:0000388Otitis media0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 123
HP:0000388HP:0000388Otitis media0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0000388HP:0000388Otitis media0NBN CL E G H46837652OMIM:251260Nijmegen breakage syndrome.706
HP:0000388HP:0000388Otitis media0NCF1 CL E G H6533617660ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent13
HP:0000388HP:0000388Otitis media0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0000388HP:0000388Otitis media0NCF2 CL E G H46887661ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent67
HP:0000388HP:0000388Otitis media0NCF4 CL E G H46897662ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent37
HP:0000388HP:0000388Otitis media0NCKAP1L CL E G H30714862OMIM:618982IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0000388HP:0000388Otitis media0NECTIN1 CL E G H58189706ORPHA:199306Cleft lip/palate4
HP:0000388HP:0000388Otitis media0NECTIN1 CL E G H58189706ORPHA:199302Isolated cleft lip4
HP:0000388HP:0000388Otitis media0NEK10 CL E G H15211018592OMIM:618781CILIARY DYSKINESIA, PRIMARY, 44; CILD44
HP:0000388HP:0000388Otitis media0NEK10 CL E G H15211018592ORPHA:244Primary ciliary dyskinesia
HP:0000388HP:0000388Otitis media0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndrome
HP:0000388HP:0000388Otitis media0NFKB1 CL E G H47907794ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent7
HP:0000388HP:0000388Otitis media0NFKB2 CL E G H47917795ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent11
HP:0000388HP:0000388Otitis media0NFKB2 CL E G H47917795ORPHA:293978Deficiency in anterior pituitary function-variable immunodeficiency syndrome11
HP:0000388HP:0000388Otitis media0NFKB2 CL E G H47917795OMIM:615577Immunodeficiency, common variable, 1011
HP:0000388HP:0000388Otitis media0NIPAL4 CL E G H34893828018ORPHA:313Lamellar ichthyosis60
HP:0000388HP:0000388Otitis media0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0000388HP:0000388Otitis media0NME5 CL E G H83827853OMIM:620032
HP:0000388HP:0000388Otitis media0NME8 CL E G H5131416473ORPHA:244Primary ciliary dyskinesia50
HP:0000388HP:0000388Otitis media0NSD1 CL E G H6432414234ORPHA:821Sotos syndrome544
HP:0000388HP:0000388Otitis media0NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0000388HP:0000388Otitis media0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndrome118
HP:0000388HP:0000388Otitis media0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndrome2
HP:0000388HP:0000388Otitis media0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of Lowe88
HP:0000388HP:0000388Otitis media0ODAD1 CL E G H9323326560OMIM:615067Ciliary dyskinesia, primary, 20
HP:0000388HP:0000388Otitis media0ODAD1 CL E G H9323326560ORPHA:244Primary ciliary dyskinesia
HP:0000388HP:0000388Otitis media0ODAD2 CL E G H5513025583OMIM:615451CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0000388HP:0000388Otitis media0ODAD2 CL E G H5513025583ORPHA:244Primary ciliary dyskinesia
HP:0000388HP:0000388Otitis media0ODAD3 CL E G H11594828303OMIM:616037Ciliary dyskinesia, primary, 30
HP:0000388HP:0000388Otitis media0ODAD3 CL E G H11594828303ORPHA:244Primary ciliary dyskinesia
HP:0000388HP:0000388Otitis media0ODAD4 CL E G H8353825280ORPHA:244Primary ciliary dyskinesia
HP:0000388HP:0000388Otitis media0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1201
HP:0000388HP:0000388Otitis media0OFD1 CL E G H84812567ORPHA:244Primary ciliary dyskinesia201
HP:0000388HP:0000388Otitis media0PCYT1A CL E G H51308754OMIM:608940Spondylometaphyseal dysplasia with cone-rod dystrophy11
HP:0000388HP:0000388Otitis media0PDGFRA CL E G H51568803ORPHA:199306Cleft lip/palate337
HP:0000388HP:0000388Otitis media0PGM1 CL E G H52368905OMIM:614921Congenital disorder of glycosylation, type It58
HP:0000388HP:0000388Otitis media0PGM3 CL E G H52388907ORPHA:443811PGM3-CDG15
HP:0000388HP:0000388Otitis media0PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0000388HP:0000388Otitis media0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndrome7
HP:0000388HP:0000388Otitis media0PIK3CG CL E G H52948978OMIM:619802IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD972
HP:0000388HP:0000388Otitis media0PIK3R1 CL E G H52958979ORPHA:33110Autosomal agammaglobulinemia43
HP:0000388HP:0000388Otitis media0PLCG2 CL E G H53369066OMIM:614468FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS321
HP:0000388HP:0000388Otitis media0PNP CL E G H48607892OMIM:613179Immunodeficiency due to purine nucleoside phosphorylase deficiency.52
HP:0000388HP:0000388Otitis media0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndrome138
HP:0000388HP:0000388Otitis media0PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0000388HP:0000388Otitis media0PRKCD CL E G H55809399OMIM:615559AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS310
HP:0000388HP:0000388Otitis media0PRKCD CL E G H55809399ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent10
HP:0000388HP:0000388Otitis media0PRTN3 CL E G H56579495ORPHA:900Granulomatosis with polyangiitisHP:0040281 - Very frequent
HP:0000388HP:0000388Otitis media0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0000388HP:0000388Otitis media0PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndrome4
HP:0000388HP:0000388Otitis media0PTPN22 CL E G H261919652ORPHA:900Granulomatosis with polyangiitisHP:0040281 - Very frequent3
HP:0000388HP:0000388Otitis media0RAC1 CL E G H58799801OMIM:617751Mental retardation, autosomal dominant 483
HP:0000388HP:0000388Otitis media0RAC1 CL E G H58799801ORPHA:500159Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom3
HP:0000388HP:0000388Otitis media0RAC2 CL E G H58809802OMIM:618986IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B9
HP:0000388HP:0000388Otitis media0RAG1 CL E G H58969831OMIM:601457Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive.127
HP:0000388HP:0000388Otitis media0RAG2 CL E G H58979832OMIM:601457Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive.50
HP:0000388HP:0000388Otitis media0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndrome150
HP:0000388HP:0000388Otitis media0RELB CL E G H59719956OMIM:617585Immunodeficiency 531
HP:0000388HP:0000388Otitis media0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0000388HP:0000388Otitis media0RFX5 CL E G H59939986ORPHA:572Immunodeficiency by defective expression of MHC class II38
HP:0000388HP:0000388Otitis media0RFXANK CL E G H86259987ORPHA:572Immunodeficiency by defective expression of MHC class II26
HP:0000388HP:0000388Otitis media0RFXAP CL E G H59949988ORPHA:572Immunodeficiency by defective expression of MHC class II34
HP:0000388HP:0000388Otitis media0RNF168 CL E G H16591826661ORPHA:420741RIDDLE syndromeHP:0040283 - Occasional7
HP:0000388HP:0000388Otitis media0RNF2 CL E G H604510061OMIM:619460LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000388HP:0000388Otitis media0RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndrome15
HP:0000388HP:0000388Otitis media0RNU4ATAC CL E G H10015168334016OMIM:616651Roifman syndrome15
HP:0000388HP:0000388Otitis media0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndrome120
HP:0000388HP:0000388Otitis media0RPGR CL E G H610310295ORPHA:244Primary ciliary dyskinesia200
HP:0000388HP:0000388Otitis media0RPGR CL E G H610310295OMIM:300455RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS200
HP:0000388HP:0000388Otitis media0RPL11 CL E G H613510301OMIM:612562Diamond-Blackfan anemia 722
HP:0000388HP:0000388Otitis media0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndrome
HP:0000388HP:0000388Otitis media0RSPH1 CL E G H8976512371ORPHA:244Primary ciliary dyskinesia31
HP:0000388HP:0000388Otitis media0RSPH3 CL E G H8386121054OMIM:616481Ciliary dyskinesia, primary, 325
HP:0000388HP:0000388Otitis media0RSPH3 CL E G H8386121054ORPHA:244Primary ciliary dyskinesia5
HP:0000388HP:0000388Otitis media0RSPH4A CL E G H34589521558ORPHA:244Primary ciliary dyskinesia58
HP:0000388HP:0000388Otitis media0RSPH9 CL E G H22142121057OMIM:612650CILIARY DYSKINESIA, PRIMARY, 12; CILD1220
HP:0000388HP:0000388Otitis media0RSPH9 CL E G H22142121057ORPHA:244Primary ciliary dyskinesia20
HP:0000388HP:0000388Otitis media0RTL1 CL E G H38801514665ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14
HP:0000388HP:0000388Otitis media0RTL1 CL E G H38801514665ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylation
HP:0000388HP:0000388Otitis media0RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasia90
HP:0000388HP:0000388Otitis media0SDCCAG8 CL E G H1080610671OMIM:615993Bardet-Biedl syndrome 1661
HP:0000388HP:0000388Otitis media0SDR9C7 CL E G H12121429958ORPHA:313Lamellar ichthyosis2
HP:0000388HP:0000388Otitis media0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndrome
HP:0000388HP:0000388Otitis media0SETD2 CL E G H2907218420OMIM:616831Luscan-Lumish syndrome60
HP:0000388HP:0000388Otitis media0SETD2 CL E G H2907218420ORPHA:821Sotos syndrome60
HP:0000388HP:0000388Otitis media0SH3KBP1 CL E G H3001113867OMIM:300310Immunodeficiency 612
HP:0000388HP:0000388Otitis media0SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944
HP:0000388HP:0000388Otitis media0SLC35C1 CL E G H5534320197OMIM:266265Congenital disorder of glycosylation, type IIc71
HP:0000388HP:0000388Otitis media0SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type II71
HP:0000388HP:0000388Otitis media0SLC37A4 CL E G H25424061OMIM:619525CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W110
HP:0000388HP:0000388Otitis media0SMARCA2 CL E G H659511098ORPHA:2728Blepharophimosis-intellectual disability syndrome, Ohdo type146
HP:0000388HP:0000388Otitis media0SMARCD2 CL E G H660311107OMIM:617475SPECIFIC GRANULE DEFICIENCY 2; SGD23
HP:0000388HP:0000388Otitis media0SMG9 CL E G H5600625763OMIM:6199952
HP:0000388HP:0000388Otitis media0SNX10 CL E G H2988714974ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent2
HP:0000388HP:0000388Otitis media0SPAG1 CL E G H667411212OMIM:615505Ciliary dyskinesia, primary, 2845
HP:0000388HP:0000388Otitis media0SPAG1 CL E G H667411212ORPHA:244Primary ciliary dyskinesia45
HP:0000388HP:0000388Otitis media0SPEF2 CL E G H7992526293ORPHA:244Primary ciliary dyskinesia15
HP:0000388HP:0000388Otitis media0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000388HP:0000388Otitis media0SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0000388HP:0000388Otitis media0SRY CL E G H673611311ORPHA:177245,X/46,XY mixed gonadal dysgenesis23
HP:0000388HP:0000388Otitis media0STAT3 CL E G H677411364ORPHA:2314Autosomal dominant hyper-IgE syndrome110
HP:0000388HP:0000388Otitis media0STK36 CL E G H2714817209OMIM:619436CILIARY DYSKINESIA, PRIMARY, 46; CILD463
HP:0000388HP:0000388Otitis media0STK36 CL E G H2714817209ORPHA:244Primary ciliary dyskinesia3
HP:0000388HP:0000388Otitis media0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0000388HP:0000388Otitis media0SULT2B1 CL E G H682011459ORPHA:313Lamellar ichthyosis4
HP:0000388HP:0000388Otitis media0SYK CL E G H685011491OMIM:619381IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD821
HP:0000388HP:0000388Otitis media0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0000388HP:0000388Otitis media0TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome21
HP:0000388HP:0000388Otitis media0TAOK1 CL E G H5755129259OMIM:619575DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000388HP:0000388Otitis media0TAP1 CL E G H689043OMIM:604571Bare lymphocyte syndrome, type I5
HP:0000388HP:0000388Otitis media0TAP2 CL E G H689144OMIM:604571Bare lymphocyte syndrome, type I17
HP:0000388HP:0000388Otitis media0TAPBP CL E G H689211566OMIM:604571Bare lymphocyte syndrome, type I3
HP:0000388HP:0000388Otitis media0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0000388HP:0000388Otitis media0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndrome32
HP:0000388HP:0000388Otitis media0TBX1 CL E G H689911592OMIM:188400Digeorge syndrome32
HP:0000388HP:0000388Otitis media0TBX4 CL E G H949611603ORPHA:26127917q23.1q23.2 microdeletion syndrome55
HP:0000388HP:0000388Otitis media0TCF3 CL E G H692911633OMIM:616941Agammaglobulinemia 8, autosomal dominant2
HP:0000388HP:0000388Otitis media0TCF3 CL E G H692911633ORPHA:33110Autosomal agammaglobulinemia2
HP:0000388HP:0000388Otitis media0TCIRG1 CL E G H1031211647ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent82
HP:0000388HP:0000388Otitis media0TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000388HP:0000388Otitis media0TGDS CL E G H2348320324ORPHA:1388Catel-Manzke syndrome6
HP:0000388HP:0000388Otitis media0TGM1 CL E G H705111777ORPHA:313Lamellar ichthyosis98
HP:0000388HP:0000388Otitis media0TLK2 CL E G H1101111842OMIM:618050Mental retardation, autosomal dominant 57.1
HP:0000388HP:0000388Otitis media0TLR8 CL E G H5131115632OMIM:301078IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0000388HP:0000388Otitis media0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0000388HP:0000388Otitis media0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0000388HP:0000388Otitis media0TNFRSF13B CL E G H2349518153ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent32
HP:0000388HP:0000388Otitis media0TNFRSF13B CL E G H2349518153OMIM:240500Immunodeficiency, common variable, 232
HP:0000388HP:0000388Otitis media0TNFRSF13C CL E G H11565017755ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent12
HP:0000388HP:0000388Otitis media0TNFRSF13C CL E G H11565017755OMIM:240500Immunodeficiency, common variable, 212
HP:0000388HP:0000388Otitis media0TNFSF11 CL E G H860011926ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent44
HP:0000388HP:0000388Otitis media0TNFSF12 CL E G H874211927ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent1
HP:0000388HP:0000388Otitis media0TNRC6B CL E G H2311229190OMIM:619243GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0000388HP:0000388Otitis media0TP63 CL E G H862615979ORPHA:199306Cleft lip/palate140
HP:0000388HP:0000388Otitis media0TP63 CL E G H862615979ORPHA:199302Isolated cleft lip140
HP:0000388HP:0000388Otitis media0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0000388HP:0000388Otitis media0TP73 CL E G H716112003OMIM:619466CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY; CILD47
HP:0000388HP:0000388Otitis media0TPP2 CL E G H717412016ORPHA:444463Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
HP:0000388HP:0000388Otitis media0TPP2 CL E G H717412016OMIM:619220IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0000388HP:0000388Otitis media0TTC12 CL E G H5497023700ORPHA:244Primary ciliary dyskinesia
HP:0000388HP:0000388Otitis media0UBB CL E G H731412463ORPHA:99772Cleft velum
HP:0000388HP:0000388Otitis media0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndrome
HP:0000388HP:0000388Otitis media0UNC119 CL E G H909412565OMIM:615518IMMUNODEFICIENCY 13; IMD1330
HP:0000388HP:0000388Otitis media0USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia8
HP:0000388HP:0000388Otitis media0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0000388HP:0000388Otitis media0WAS CL E G H745412731ORPHA:906Wiskott-Aldrich syndromeHP:0040281 - Very frequent65
HP:0000388HP:0000388Otitis media0WAS CL E G H745412731OMIM:301000Wiskott-Aldrich syndrome65
HP:0000388HP:0000388Otitis media0WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome8
HP:0000388HP:0000388Otitis media0WDR26 CL E G H8023221208OMIM:617616Skraban-Deardorff syndrome8
HP:0000388HP:0000388Otitis media0WIPF1 CL E G H745612736ORPHA:906Wiskott-Aldrich syndromeHP:0040281 - Very frequent6
HP:0000388HP:0000388Otitis media0ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome362
HP:0000388HP:0000388Otitis media0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutation362
HP:0000388HP:0000388Otitis media0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22362
HP:0000388HP:0000388Otitis media0ZMYND10 CL E G H5136419412OMIM:615444Ciliary dyskinesia, primary, 2220
HP:0000388HP:0000388Otitis media0ZMYND10 CL E G H5136419412ORPHA:244Primary ciliary dyskinesia20
HP:0000388HP:0000388Otitis media0ZNF341 CL E G H8490515992OMIM:618282Hyper-Ige recurrent infection syndrome 3, autosomal recessive1
HP:0000388HP:0000403Recurrent otitis media1A2ML1 CL E G H14456823336OMIM:166760Otitis media, susceptibility to120
HP:0000388HP:0000389Chronic otitis media1ABCA12 CL E G H2615414637ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional130
HP:0000388HP:0000403Recurrent otitis media1ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation.16
HP:0000388HP:0000403Recurrent otitis media1ADA CL E G H100186ORPHA:277Severe combined immunodeficiency due to adenosine deaminase deficiencyHP:0040282 - Frequent75
HP:0000388HP:0000403Recurrent otitis media1ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0000388HP:0000403Recurrent otitis media1ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040283 - Occasional9
HP:0000388HP:0000403Recurrent otitis media1ADAT3 CL E G H11317925151OMIM:615286Mental retardation, autosomal recessive 36.9
HP:0000388HP:0000389Chronic otitis media1AGA CL E G H175318ORPHA:93AspartylglucosaminuriaHP:0040283 - Occasional76
HP:0000388HP:0000389Chronic otitis media1AK2 CL E G H204362ORPHA:33355Reticular dysgenesisHP:0040281 - Very frequent19
HP:0000388HP:0000389Chronic otitis media1ALOX12B CL E G H242430ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional75
HP:0000388HP:0000389Chronic otitis media1ALOXE3 CL E G H5934413743ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional63
HP:0000388HP:0000403Recurrent otitis media1ANAPC1 CL E G H6468219988OMIM:618625ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS12
HP:0000388HP:0000389Chronic otitis media1ANKRD11 CL E G H2912321316ORPHA:26125016q24.3 microdeletion syndromeHP:0040283 - Occasional102
HP:0000388HP:0000403Recurrent otitis media1AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0000388HP:0000389Chronic otitis media1APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040282 - Frequent1
HP:0000388HP:0000403Recurrent otitis media1ARHGAP29 CL E G H941130207ORPHA:199306Cleft lip/palateHP:0040282 - Frequent6
HP:0000388HP:0000389Chronic otitis media1ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent1
HP:0000388HP:0000389Chronic otitis media1ASPRV1 CL E G H15151626321ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional1
HP:0000388HP:0000403Recurrent otitis media1ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies.16
HP:0000388HP:0000403Recurrent otitis media1BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0000388HP:0000389Chronic otitis media1BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000388HP:0000389Chronic otitis media1BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000388HP:0000403Recurrent otitis media1BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1.101
HP:0000388HP:0000403Recurrent otitis media1BLNK CL E G H2976014211OMIM:613502Agammaglobulinemia 4, autosomal recessive.4
HP:0000388HP:0000389Chronic otitis media1BLNK CL E G H2976014211ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent4
HP:0000388HP:0000403Recurrent otitis media1BMP4 CL E G H6521071ORPHA:199306Cleft lip/palateHP:0040282 - Frequent38
HP:0000388HP:0000403Recurrent otitis media1BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0000388HP:0000403Recurrent otitis media1BTK CL E G H6951133OMIM:300755Agammaglobulinemia, X-linked109
HP:0000388HP:0000403Recurrent otitis media1BTK CL E G H6951133OMIM:307200Isolated growth hormone deficiency, type III, with agammaglobulinemia109
HP:0000388HP:0000389Chronic otitis media1BTK CL E G H6951133ORPHA:47X-linked agammaglobulinemiaHP:0040281 - Very frequent109
HP:0000388HP:0000389Chronic otitis media1BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000388HP:0000403Recurrent otitis media1C4B CL E G H7211324OMIM:614379Complement component 4B deficiency1
HP:0000388HP:0000389Chronic otitis media1CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0000388HP:0000403Recurrent otitis media1CCDC103 CL E G H38838932700ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent36
HP:0000388HP:0000389Chronic otitis media1CCDC103 CL E G H38838932700ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent36
HP:0000388HP:0000389Chronic otitis media1CCDC39 CL E G H33982925244ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent126
HP:0000388HP:0000403Recurrent otitis media1CCDC39 CL E G H33982925244ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent126
HP:0000388HP:0000403Recurrent otitis media1CCDC40 CL E G H5503626090OMIM:613808CILIARY DYSKINESIA, PRIMARY, 15; CILD15182
HP:0000388HP:0000389Chronic otitis media1CCDC40 CL E G H5503626090ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent182
HP:0000388HP:0000403Recurrent otitis media1CCDC40 CL E G H5503626090ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent182
HP:0000388HP:0000403Recurrent otitis media1CCDC65 CL E G H8547829937OMIM:615504Ciliary dyskinesia, primary, 27.23
HP:0000388HP:0000403Recurrent otitis media1CCDC65 CL E G H8547829937ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent23
HP:0000388HP:0000389Chronic otitis media1CCDC65 CL E G H8547829937ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent23
HP:0000388HP:0000403Recurrent otitis media1CCNO CL E G H1030918576ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent23
HP:0000388HP:0000389Chronic otitis media1CCNO CL E G H1030918576ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent23
HP:0000388HP:0000389Chronic otitis media1CD19 CL E G H9301633ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent38
HP:0000388HP:0000403Recurrent otitis media1CD19 CL E G H9301633OMIM:240500Immunodeficiency, common variable, 238
HP:0000388HP:0000403Recurrent otitis media1CD19 CL E G H9301633OMIM:613493IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID338
HP:0000388HP:0000403Recurrent otitis media1CD3D CL E G H9151673OMIM:615617Immunodeficiency 19.18
HP:0000388HP:0000403Recurrent otitis media1CD3E CL E G H9161674OMIM:615615Immunodeficiency 18.24
HP:0000388HP:0000403Recurrent otitis media1CD3G CL E G H9171675OMIM:615607Immunodeficiency 17.19
HP:0000388HP:0000403Recurrent otitis media1CD4 CL E G H9201678OMIM:619238IMMUNODEFICIENCY 79; IMD791
HP:0000388HP:0000403Recurrent otitis media1CD79A CL E G H9731698OMIM:613501Agammaglobulinemia 3, autosomal recessive.9
HP:0000388HP:0000389Chronic otitis media1CD79A CL E G H9731698ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent9
HP:0000388HP:0000403Recurrent otitis media1CD79B CL E G H9741699OMIM:612692Agammaglobulinemia 6, autosomal recessive.6
HP:0000388HP:0000389Chronic otitis media1CD79B CL E G H9741699ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent6
HP:0000388HP:0000389Chronic otitis media1CD81 CL E G H9751701ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent1
HP:0000388HP:0000403Recurrent otitis media1CDC42BPB CL E G H95781738OMIM:619841
HP:0000388HP:0000403Recurrent otitis media1CDH1 CL E G H9991748ORPHA:199306Cleft lip/palateHP:0040282 - Frequent1003
HP:0000388HP:0000403Recurrent otitis media1CFAP221 CL E G H20037333720ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000388HP:0000389Chronic otitis media1CFAP221 CL E G H20037333720ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000388HP:0000403Recurrent otitis media1CFAP298 CL E G H566831301OMIM:615500Ciliary dyskinesia, primary, 26
HP:0000388HP:0000389Chronic otitis media1CFAP298 CL E G H566831301ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000388HP:0000403Recurrent otitis media1CFAP298 CL E G H566831301ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000388HP:0000389Chronic otitis media1CFAP300 CL E G H8501628188OMIM:618063Ciliary dyskinesia, primary, 38.
HP:0000388HP:0000389Chronic otitis media1CFAP300 CL E G H8501628188ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000388HP:0000403Recurrent otitis media1CFAP300 CL E G H8501628188ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000388HP:0000389Chronic otitis media1CFAP45 CL E G H2579017229OMIM:619608HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0000388HP:0000403Recurrent otitis media1CFAP52 CL E G H14684516053OMIM:619607HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10
HP:0000388HP:0000403Recurrent otitis media1CFI CL E G H34265394OMIM:610984Complement factor I deficiency.57
HP:0000388HP:0000371Acute otitis media1CIITA CL E G H42617067ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040283 - Occasional118
HP:0000388HP:0000389Chronic otitis media1CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000388HP:0000403Recurrent otitis media1COL11A1 CL E G H13012186OMIM:154780Marshall syndrome215
HP:0000388HP:0000403Recurrent otitis media1COL2A1 CL E G H12802200OMIM:156550Kniest dysplasia.284
HP:0000388HP:0000389Chronic otitis media1COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent6
HP:0000388HP:0000389Chronic otitis media1CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional1
HP:0000388HP:0000389Chronic otitis media1CR2 CL E G H13802336ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent10
HP:0000388HP:0000403Recurrent otitis media1CR2 CL E G H13802336OMIM:240500Immunodeficiency, common variable, 210
HP:0000388HP:0000389Chronic otitis media1CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional2
HP:0000388HP:0000389Chronic otitis media1CTLA4 CL E G H14932505ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional10
HP:0000388HP:0000389Chronic otitis media1CYP4F22 CL E G H12641026820ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional54
HP:0000388HP:0000403Recurrent otitis media1DDB1 CL E G H16422717OMIM:619426WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000388HP:0000389Chronic otitis media1DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent33
HP:0000388HP:0000403Recurrent otitis media1DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0000388HP:0000403Recurrent otitis media1DLG1 CL E G H17392900ORPHA:199306Cleft lip/palateHP:0040282 - Frequent
HP:0000388HP:0000403Recurrent otitis media1DLK1 CL E G H87882907ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000388HP:0000403Recurrent otitis media1DLK1 CL E G H87882907ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040283 - Occasional1
HP:0000388HP:0000403Recurrent otitis media1DLX4 CL E G H17482917ORPHA:199306Cleft lip/palateHP:0040282 - Frequent1
HP:0000388HP:0000403Recurrent otitis media1DNAAF1 CL E G H12387230539OMIM:613193Ciliary dyskinesia, primary, 13.116
HP:0000388HP:0000389Chronic otitis media1DNAAF1 CL E G H12387230539ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent116
HP:0000388HP:0000403Recurrent otitis media1DNAAF1 CL E G H12387230539ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent116
HP:0000388HP:0000403Recurrent otitis media1DNAAF11 CL E G H2363916725OMIM:614935Ciliary dyskinesia, primary, 19.
HP:0000388HP:0000389Chronic otitis media1DNAAF11 CL E G H2363916725ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000388HP:0000403Recurrent otitis media1DNAAF11 CL E G H2363916725ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000388HP:0000389Chronic otitis media1DNAAF2 CL E G H5517220188OMIM:612518CILIARY DYSKINESIA, PRIMARY, 10; CILD1078
HP:0000388HP:0000389Chronic otitis media1DNAAF2 CL E G H5517220188ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent78
HP:0000388HP:0000403Recurrent otitis media1DNAAF2 CL E G H5517220188ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent78
HP:0000388HP:0000403Recurrent otitis media1DNAAF3 CL E G H35290930492ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent63
HP:0000388HP:0000389Chronic otitis media1DNAAF3 CL E G H35290930492ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent63
HP:0000388HP:0000403Recurrent otitis media1DNAAF4 CL E G H16158221493ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent27
HP:0000388HP:0000389Chronic otitis media1DNAAF4 CL E G H16158221493ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent27
HP:0000388HP:0000403Recurrent otitis media1DNAAF5 CL E G H5491926013OMIM:614874Ciliary dyskinesia, primary, 18.62
HP:0000388HP:0000389Chronic otitis media1DNAAF5 CL E G H5491926013ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent62
HP:0000388HP:0000403Recurrent otitis media1DNAAF5 CL E G H5491926013ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent62
HP:0000388HP:0000389Chronic otitis media1DNAAF6 CL E G H13921228570ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000388HP:0000403Recurrent otitis media1DNAAF6 CL E G H13921228570ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000388HP:0000389Chronic otitis media1DNAH1 CL E G H259812940ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent21
HP:0000388HP:0000403Recurrent otitis media1DNAH1 CL E G H259812940ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent21
HP:0000388HP:0000403Recurrent otitis media1DNAH11 CL E G H87012942OMIM:611884CILIARY DYSKINESIA, PRIMARY, 7; CILD7542
HP:0000388HP:0000403Recurrent otitis media1DNAH11 CL E G H87012942ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent542
HP:0000388HP:0000389Chronic otitis media1DNAH11 CL E G H87012942ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent542
HP:0000388HP:0000403Recurrent otitis media1DNAH5 CL E G H17672950OMIM:608644CILIARY DYSKINESIA, PRIMARY, 3; CILD3527
HP:0000388HP:0000389Chronic otitis media1DNAH5 CL E G H17672950ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent527
HP:0000388HP:0000403Recurrent otitis media1DNAH5 CL E G H17672950ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent527
HP:0000388HP:0000389Chronic otitis media1DNAH9 CL E G H17702953ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent18
HP:0000388HP:0000403Recurrent otitis media1DNAH9 CL E G H17702953ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent18
HP:0000388HP:0000389Chronic otitis media1DNAI1 CL E G H270192954OMIM:244400Ciliary dyskinesia, primary, 1.73
HP:0000388HP:0000403Recurrent otitis media1DNAI1 CL E G H270192954ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent73
HP:0000388HP:0000389Chronic otitis media1DNAI1 CL E G H270192954ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent73
HP:0000388HP:0000403Recurrent otitis media1DNAI2 CL E G H6444618744OMIM:612444CILIARY DYSKINESIA, PRIMARY, 9; CILD9104
HP:0000388HP:0000389Chronic otitis media1DNAI2 CL E G H6444618744OMIM:612444CILIARY DYSKINESIA, PRIMARY, 9; CILD9104
HP:0000388HP:0000403Recurrent otitis media1DNAI2 CL E G H6444618744ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent104
HP:0000388HP:0000389Chronic otitis media1DNAI2 CL E G H6444618744ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent104
HP:0000388HP:0000389Chronic otitis media1DNAJB13 CL E G H37440730718ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent2
HP:0000388HP:0000403Recurrent otitis media1DNAJB13 CL E G H37440730718ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent2
HP:0000388HP:0000389Chronic otitis media1DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000388HP:0000389Chronic otitis media1DNAL1 CL E G H8354423247OMIM:614017CILIARY DYSKINESIA, PRIMARY, 16; CILD16167
HP:0000388HP:0000403Recurrent otitis media1DNAL1 CL E G H8354423247ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent167
HP:0000388HP:0000389Chronic otitis media1DNAL1 CL E G H8354423247ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent167
HP:0000388HP:0000403Recurrent otitis media1DOCK2 CL E G H17942988OMIM:616433Immunodeficiency 406
HP:0000388HP:0000389Chronic otitis media1DOCK8 CL E G H8170419191ORPHA:217390Combined immunodeficiency due to DOCK8 deficiencyHP:0040281 - Very frequent217
HP:0000388HP:0000403Recurrent otitis media1DOCK8 CL E G H8170419191OMIM:243700Hyper-Ige recurrent infection syndrome, autosomal recessive217
HP:0000388HP:0000403Recurrent otitis media1DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7.
HP:0000388HP:0000403Recurrent otitis media1DRC1 CL E G H9274924245OMIM:615294CILIARY DYSKINESIA, PRIMARY, 21; CILD2144
HP:0000388HP:0000389Chronic otitis media1DRC1 CL E G H9274924245ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent44
HP:0000388HP:0000403Recurrent otitis media1DRC1 CL E G H9274924245ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent44
HP:0000388HP:0000389Chronic otitis media1EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000388HP:0000389Chronic otitis media1ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040282 - Frequent172
HP:0000388HP:0000403Recurrent otitis media1ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0000388HP:0000403Recurrent otitis media1FCGR3A CL E G H22143619OMIM:615707Immunodeficiency 204
HP:0000388HP:0031353Otitis media with effusion1FGF3 CL E G H22483681ORPHA:2791Otodental syndromeHP:0040283 - Occasional18
HP:0000388HP:0000389Chronic otitis media1FGFR2 CL E G H22633689OMIM:101200Apert syndrome.175
HP:0000388HP:0000403Recurrent otitis media1FGFR3 CL E G H22613690OMIM:100800ACHONDROPLASIA.145
HP:0000388HP:0000403Recurrent otitis media1FGFR3 CL E G H22613690OMIM:602849Muenke syndrome145
HP:0000388HP:0000389Chronic otitis media1FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000388HP:0000389Chronic otitis media1FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent
HP:0000388HP:0000403Recurrent otitis media1FLNA CL E G H23163754OMIM:309350Melnick-Needles syndrome.493
HP:0000388HP:0000389Chronic otitis media1FMR1 CL E G H23323775ORPHA:908Fragile X syndromeHP:0040281 - Very frequent30
HP:0000388HP:0000403Recurrent otitis media1FMR1 CL E G H23323775ORPHA:449291Symptomatic form of fragile X syndrome in female carriersHP:0040284 - Very rare30
HP:0000388HP:0000403Recurrent otitis media1FOCAD CL E G H5491423377OMIM:6199913
HP:0000388HP:0000389Chronic otitis media1FOXJ1 CL E G H23023816ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000388HP:0000403Recurrent otitis media1FOXJ1 CL E G H23023816ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000388HP:0000403Recurrent otitis media1FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndromeHP:0040282 - Frequent184
HP:0000388HP:0000403Recurrent otitis media1GAS2L2 CL E G H24617624846OMIM:618449Ciliary dyskinesia, primary, 411
HP:0000388HP:0000389Chronic otitis media1GAS2L2 CL E G H24617624846ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent1
HP:0000388HP:0000403Recurrent otitis media1GAS2L2 CL E G H24617624846ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent1
HP:0000388HP:0000403Recurrent otitis media1GAS8 CL E G H26224166OMIM:616726Ciliary dyskinesia, primary, 339
HP:0000388HP:0000389Chronic otitis media1GAS8 CL E G H26224166ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent9
HP:0000388HP:0000403Recurrent otitis media1GAS8 CL E G H26224166ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent9
HP:0000388HP:0000389Chronic otitis media1GATA2 CL E G H26244171ORPHA:3226Deafness-lymphedema-leukemia syndromeHP:0040282 - Frequent137
HP:0000388HP:0000403Recurrent otitis media1GLRA2 CL E G H27424327OMIM:301076INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0000388HP:0000403Recurrent otitis media1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000388HP:0000389Chronic otitis media1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000388HP:0000403Recurrent otitis media1GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0000388HP:0000403Recurrent otitis media1GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0000388HP:0000389Chronic otitis media1GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent8
HP:0000388HP:0000403Recurrent otitis media1GRHL3 CL E G H5782225839ORPHA:99772Cleft velumHP:0040283 - Occasional12
HP:0000388HP:0000389Chronic otitis media1GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000388HP:0000389Chronic otitis media1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000388HP:0000389Chronic otitis media1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000388HP:0000403Recurrent otitis media1GUSB CL E G H29904696OMIM:253220Mucopolysaccharidosis, type VII54
HP:0000388HP:0000403Recurrent otitis media1H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000388HP:0000403Recurrent otitis media1H4C5 CL E G H83674790OMIM:619950
HP:0000388HP:0000403Recurrent otitis media1HEPHL1 CL E G H34120830477OMIM:261990PILI TORTI AND DEVELOPMENTAL DELAY
HP:0000388HP:0000389Chronic otitis media1HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent3
HP:0000388HP:0000389Chronic otitis media1HLA-DPA1 CL E G H31134938ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional
HP:0000388HP:0000389Chronic otitis media1HLA-DPB1 CL E G H31154940ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional1
HP:0000388HP:0000403Recurrent otitis media1HYAL1 CL E G H33735320OMIM:601492Mucopolysaccharidosis type IX28
HP:0000388HP:0000403Recurrent otitis media1HYDIN CL E G H5476819368OMIM:608647Ciliary dyskinesia, primary, 5.21
HP:0000388HP:0000403Recurrent otitis media1HYDIN CL E G H5476819368ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent21
HP:0000388HP:0000389Chronic otitis media1HYDIN CL E G H5476819368ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent21
HP:0000388HP:0000389Chronic otitis media1ICOS CL E G H298515351ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent32
HP:0000388HP:0000403Recurrent otitis media1ICOS CL E G H298515351OMIM:607594Immunodeficiency, common variable, 1.32
HP:0000388HP:0000403Recurrent otitis media1ICOS CL E G H298515351OMIM:240500Immunodeficiency, common variable, 232
HP:0000388HP:0000403Recurrent otitis media1IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II.86
HP:0000388HP:0000403Recurrent otitis media1IDUA CL E G H34255391OMIM:607014Hurler syndrome115
HP:0000388HP:0000403Recurrent otitis media1IGHG2 CL E G H35015526ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency1
HP:0000388HP:0000403Recurrent otitis media1IGHM CL E G H35075541OMIM:601495Agammaglobulinemia 1, autosomal recessive.7
HP:0000388HP:0000389Chronic otitis media1IGHM CL E G H35075541ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent7
HP:0000388HP:0000403Recurrent otitis media1IGKC CL E G H35145716ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency5
HP:0000388HP:0000403Recurrent otitis media1IGLL1 CL E G H35435870OMIM:613500Agammaglobulinemia 2, autosomal recessive3
HP:0000388HP:0000389Chronic otitis media1IGLL1 CL E G H35435870ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent3
HP:0000388HP:0000403Recurrent otitis media1IKBKB CL E G H35515960OMIM:618204IMMUNODEFICIENCY 15A; IMD15A4
HP:0000388HP:0000389Chronic otitis media1IL11RA CL E G H35905967OMIM:614188Craniosynostosis and dental anomalies8
HP:0000388HP:0000403Recurrent otitis media1IL17RA CL E G H237655985OMIM:613953Immunodeficiency 51196
HP:0000388HP:0000403Recurrent otitis media1IL21R CL E G H506156006OMIM:615207IMMUNODEFICIENCY 56; IMD567
HP:0000388HP:0000403Recurrent otitis media1IL2RB CL E G H35606009OMIM:618495Immunodeficiency 63 with lymphoproliferation and autoimmunity.
HP:0000388HP:0000403Recurrent otitis media1IL6R CL E G H35706019OMIM:618944HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES51
HP:0000388HP:0000403Recurrent otitis media1IL6ST CL E G H35726021OMIM:618523HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0000388HP:0000403Recurrent otitis media1IL7R CL E G H35756024OMIM:608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive94
HP:0000388HP:0000389Chronic otitis media1IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent119
HP:0000388HP:0000389Chronic otitis media1IRF2BP2 CL E G H35994821729ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent4
HP:0000388HP:0000403Recurrent otitis media1IRF6 CL E G H36646121ORPHA:199306Cleft lip/palateHP:0040282 - Frequent99
HP:0000388HP:0000389Chronic otitis media1IRF6 CL E G H36646121ORPHA:199302Isolated cleft lipHP:0040282 - Frequent99
HP:0000388HP:0000403Recurrent otitis media1JAGN1 CL E G H8452226926OMIM:616022Neutropenia, severe congenital, 6, autosomal recessive.8
HP:0000388HP:0000403Recurrent otitis media1JAK3 CL E G H37186193OMIM:600802Scid, autosomal recessive, T-Negative/b-Positive type140
HP:0000388HP:0000371Acute otitis media1JAK3 CL E G H37186193ORPHA:35078T-B+ severe combined immunodeficiency due to JAK3 deficiencyHP:0040283 - Occasional140
HP:0000388HP:0000389Chronic otitis media1JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent2
HP:0000388HP:0000403Recurrent otitis media1KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0000388HP:0000403Recurrent otitis media1KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0000388HP:0000403Recurrent otitis media1KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0000388HP:0000389Chronic otitis media1KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0000388HP:0000403Recurrent otitis media1KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 1.53
HP:0000388HP:0000403Recurrent otitis media1KDM6A CL E G H740312637OMIM:300867Kabuki syndrome 253
HP:0000388HP:0000403Recurrent otitis media1KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040283 - Occasional
HP:0000388HP:0000403Recurrent otitis media1KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1.660
HP:0000388HP:0000403Recurrent otitis media1KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512
HP:0000388HP:0000403Recurrent otitis media1LBR CL E G H39306518OMIM:169400Pelger-Huet anomaly70
HP:0000388HP:0000389Chronic otitis media1LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional2
HP:0000388HP:0000403Recurrent otitis media1LIG1 CL E G H39786598OMIM:619774IMMUNODEFICIENCY 96; IMD969
HP:0000388HP:0000389Chronic otitis media1LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000388HP:0000389Chronic otitis media1LIPN CL E G H64341823452ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional1
HP:0000388HP:0000403Recurrent otitis media1LRBA CL E G H9871742OMIM:614700IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID845
HP:0000388HP:0000403Recurrent otitis media1LRRC56 CL E G H11539925430OMIM:618254CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0000388HP:0000403Recurrent otitis media1LRRC56 CL E G H11539925430ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000388HP:0000389Chronic otitis media1LRRC56 CL E G H11539925430ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000388HP:0000389Chronic otitis media1LRRC8A CL E G H5626219027ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent3
HP:0000388HP:0000403Recurrent otitis media1MAGT1 CL E G H8406128880OMIM:300853IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN17
HP:0000388HP:0000403Recurrent otitis media1MAP3K7 CL E G H68856859OMIM:157800Cardiospondylocarpofacial syndrome.11
HP:0000388HP:0000403Recurrent otitis media1MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0000388HP:0000389Chronic otitis media1MCIDAS CL E G H34564340050ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent13
HP:0000388HP:0000403Recurrent otitis media1MCIDAS CL E G H34564340050ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent13
HP:0000388HP:0000403Recurrent otitis media1MEG3 CL E G H5538414575ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000388HP:0000403Recurrent otitis media1MEG3 CL E G H5538414575ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040283 - Occasional1
HP:0000388HP:0000389Chronic otitis media1METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000388HP:0000403Recurrent otitis media1MGP CL E G H42567060OMIM:245150Keutel syndrome.33
HP:0000388HP:0000403Recurrent otitis media1MGP CL E G H42567060ORPHA:85202Keutel syndromeHP:0040282 - Frequent33
HP:0000388HP:0000389Chronic otitis media1MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000388HP:0000403Recurrent otitis media1MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0000388HP:0000403Recurrent otitis media1MNS1 CL E G H5532929636OMIM:618948HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9
HP:0000388HP:0000389Chronic otitis media1MS4A1 CL E G H9317315ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent1
HP:0000388HP:0000403Recurrent otitis media1MSX1 CL E G H44877391ORPHA:199306Cleft lip/palateHP:0040282 - Frequent12
HP:0000388HP:0000389Chronic otitis media1MSX1 CL E G H44877391ORPHA:199302Isolated cleft lipHP:0040282 - Frequent12
HP:0000388HP:0000403Recurrent otitis media1NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 1.23
HP:0000388HP:0000403Recurrent otitis media1NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0000388HP:0000389Chronic otitis media1NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040282 - Frequent13
HP:0000388HP:0000403Recurrent otitis media1NCKAP1L CL E G H30714862OMIM:618982IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0000388HP:0000403Recurrent otitis media1NECTIN1 CL E G H58189706ORPHA:199306Cleft lip/palateHP:0040282 - Frequent4
HP:0000388HP:0000389Chronic otitis media1NECTIN1 CL E G H58189706ORPHA:199302Isolated cleft lipHP:0040282 - Frequent4
HP:0000388HP:0000403Recurrent otitis media1NEK10 CL E G H15211018592ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000388HP:0000389Chronic otitis media1NEK10 CL E G H15211018592ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000388HP:0000389Chronic otitis media1NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional
HP:0000388HP:0000389Chronic otitis media1NFKB1 CL E G H47907794ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent7
HP:0000388HP:0000389Chronic otitis media1NFKB2 CL E G H47917795ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent11
HP:0000388HP:0000403Recurrent otitis media1NFKB2 CL E G H47917795ORPHA:293978Deficiency in anterior pituitary function-variable immunodeficiency syndromeHP:0040281 - Very frequent11
HP:0000388HP:0000403Recurrent otitis media1NFKB2 CL E G H47917795OMIM:615577Immunodeficiency, common variable, 1011
HP:0000388HP:0000389Chronic otitis media1NIPAL4 CL E G H34893828018ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional60
HP:0000388HP:0000403Recurrent otitis media1NME5 CL E G H83827853OMIM:620032
HP:0000388HP:0000389Chronic otitis media1NME8 CL E G H5131416473ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent50
HP:0000388HP:0000403Recurrent otitis media1NME8 CL E G H5131416473ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent50
HP:0000388HP:0000389Chronic otitis media1NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040282 - Frequent544
HP:0000388HP:0000389Chronic otitis media1NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional118
HP:0000388HP:0000389Chronic otitis media1NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040282 - Frequent2
HP:0000388HP:0000389Chronic otitis media1OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040283 - Occasional88
HP:0000388HP:0000403Recurrent otitis media1ODAD1 CL E G H9323326560OMIM:615067Ciliary dyskinesia, primary, 20.
HP:0000388HP:0000403Recurrent otitis media1ODAD1 CL E G H9323326560ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000388HP:0000389Chronic otitis media1ODAD1 CL E G H9323326560ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000388HP:0000403Recurrent otitis media1ODAD2 CL E G H5513025583OMIM:615451CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0000388HP:0000389Chronic otitis media1ODAD2 CL E G H5513025583ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000388HP:0000403Recurrent otitis media1ODAD2 CL E G H5513025583ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000388HP:0000403Recurrent otitis media1ODAD3 CL E G H11594828303OMIM:616037Ciliary dyskinesia, primary, 30.
HP:0000388HP:0000389Chronic otitis media1ODAD3 CL E G H11594828303ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000388HP:0000403Recurrent otitis media1ODAD3 CL E G H11594828303ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000388HP:0000389Chronic otitis media1ODAD4 CL E G H8353825280ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000388HP:0000403Recurrent otitis media1ODAD4 CL E G H8353825280ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000388HP:0000389Chronic otitis media1OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040283 - Occasional201
HP:0000388HP:0000389Chronic otitis media1OFD1 CL E G H84812567ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent201
HP:0000388HP:0000403Recurrent otitis media1OFD1 CL E G H84812567ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent201
HP:0000388HP:0000403Recurrent otitis media1PCYT1A CL E G H51308754OMIM:608940Spondylometaphyseal dysplasia with cone-rod dystrophy.11
HP:0000388HP:0000403Recurrent otitis media1PDGFRA CL E G H51568803ORPHA:199306Cleft lip/palateHP:0040282 - Frequent337
HP:0000388HP:0000403Recurrent otitis media1PGM1 CL E G H52368905OMIM:614921Congenital disorder of glycosylation, type It58
HP:0000388HP:0000389Chronic otitis media1PGM3 CL E G H52388907ORPHA:443811PGM3-CDGHP:0040282 - Frequent15
HP:0000388HP:0000403Recurrent otitis media1PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0000388HP:0000389Chronic otitis media1PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional7
HP:0000388HP:0000403Recurrent otitis media1PIK3CG CL E G H52948978OMIM:619802IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD972
HP:0000388HP:0000389Chronic otitis media1PIK3R1 CL E G H52958979ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent43
HP:0000388HP:0000403Recurrent otitis media1PLCG2 CL E G H53369066OMIM:614468FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS321
HP:0000388HP:0000403Recurrent otitis media1POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040282 - Frequent138
HP:0000388HP:0000403Recurrent otitis media1PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0000388HP:0000403Recurrent otitis media1PRKCD CL E G H55809399OMIM:615559AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS310
HP:0000388HP:0000389Chronic otitis media1PRKCD CL E G H55809399ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent10
HP:0000388HP:0000389Chronic otitis media1PRTN3 CL E G H56579495ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional
HP:0000388HP:0000403Recurrent otitis media1PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0000388HP:0000403Recurrent otitis media1PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndromeHP:0040282 - Frequent4
HP:0000388HP:0000389Chronic otitis media1PTPN22 CL E G H261919652ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional3
HP:0000388HP:0000403Recurrent otitis media1RAC1 CL E G H58799801OMIM:617751Mental retardation, autosomal dominant 483
HP:0000388HP:0000403Recurrent otitis media1RAC1 CL E G H58799801ORPHA:500159Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromHP:0040283 - Occasional3
HP:0000388HP:0000403Recurrent otitis media1RAC2 CL E G H58809802OMIM:618986IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B9
HP:0000388HP:0000389Chronic otitis media1RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent150
HP:0000388HP:0000403Recurrent otitis media1RELB CL E G H59719956OMIM:617585Immunodeficiency 53.1
HP:0000388HP:0000389Chronic otitis media1RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000388HP:0000371Acute otitis media1RFX5 CL E G H59939986ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040283 - Occasional38
HP:0000388HP:0000371Acute otitis media1RFXANK CL E G H86259987ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040283 - Occasional26
HP:0000388HP:0000371Acute otitis media1RFXAP CL E G H59949988ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040283 - Occasional34
HP:0000388HP:0000403Recurrent otitis media1RNF2 CL E G H604510061OMIM:619460LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000388HP:0000403Recurrent otitis media1RNU4ATAC CL E G H10015168334016OMIM:616651Roifman syndrome.15
HP:0000388HP:0000403Recurrent otitis media1RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndromeHP:0040282 - Frequent15
HP:0000388HP:0000389Chronic otitis media1ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040282 - Frequent120
HP:0000388HP:0000403Recurrent otitis media1RPGR CL E G H610310295ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent200
HP:0000388HP:0000389Chronic otitis media1RPGR CL E G H610310295ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent200
HP:0000388HP:0000403Recurrent otitis media1RPL11 CL E G H613510301OMIM:612562Diamond-Blackfan anemia 7.22
HP:0000388HP:0000389Chronic otitis media1RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0000388HP:0000389Chronic otitis media1RSPH1 CL E G H8976512371ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent31
HP:0000388HP:0000403Recurrent otitis media1RSPH1 CL E G H8976512371ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent31
HP:0000388HP:0000403Recurrent otitis media1RSPH3 CL E G H8386121054OMIM:616481Ciliary dyskinesia, primary, 325
HP:0000388HP:0000403Recurrent otitis media1RSPH3 CL E G H8386121054ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent5
HP:0000388HP:0000389Chronic otitis media1RSPH3 CL E G H8386121054ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent5
HP:0000388HP:0000403Recurrent otitis media1RSPH4A CL E G H34589521558ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent58
HP:0000388HP:0000389Chronic otitis media1RSPH4A CL E G H34589521558ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent58
HP:0000388HP:0000389Chronic otitis media1RSPH9 CL E G H22142121057OMIM:612650CILIARY DYSKINESIA, PRIMARY, 12; CILD1220
HP:0000388HP:0000403Recurrent otitis media1RSPH9 CL E G H22142121057ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent20
HP:0000388HP:0000389Chronic otitis media1RSPH9 CL E G H22142121057ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent20
HP:0000388HP:0000403Recurrent otitis media1RTL1 CL E G H38801514665ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0000388HP:0000403Recurrent otitis media1RTL1 CL E G H38801514665ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040283 - Occasional
HP:0000388HP:0000389Chronic otitis media1RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasiaHP:0040282 - Frequent90
HP:0000388HP:0000403Recurrent otitis media1SDCCAG8 CL E G H1080610671OMIM:615993Bardet-Biedl syndrome 16.61
HP:0000388HP:0000389Chronic otitis media1SDR9C7 CL E G H12121429958ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional2
HP:0000388HP:0000389Chronic otitis media1SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0000388HP:0000403Recurrent otitis media1SETD2 CL E G H2907218420OMIM:616831Luscan-Lumish syndrome.60
HP:0000388HP:0000389Chronic otitis media1SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040282 - Frequent60
HP:0000388HP:0000403Recurrent otitis media1SH3KBP1 CL E G H3001113867OMIM:300310Immunodeficiency 61.2
HP:0000388HP:0000389Chronic otitis media1SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944
HP:0000388HP:0000403Recurrent otitis media1SLC35C1 CL E G H5534320197OMIM:266265Congenital disorder of glycosylation, type IIc71
HP:0000388HP:0000403Recurrent otitis media1SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type IIHP:0040283 - Occasional71
HP:0000388HP:0000403Recurrent otitis media1SLC37A4 CL E G H25424061OMIM:619525CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W110
HP:0000388HP:0000403Recurrent otitis media1SMARCA2 CL E G H659511098ORPHA:2728Blepharophimosis-intellectual disability syndrome, Ohdo typeHP:0040281 - Very frequent146
HP:0000388HP:0000403Recurrent otitis media1SMARCD2 CL E G H660311107OMIM:617475SPECIFIC GRANULE DEFICIENCY 2; SGD23
HP:0000388HP:0000403Recurrent otitis media1SMG9 CL E G H5600625763OMIM:6199952
HP:0000388HP:0000403Recurrent otitis media1SPAG1 CL E G H667411212OMIM:615505Ciliary dyskinesia, primary, 28.45
HP:0000388HP:0000403Recurrent otitis media1SPAG1 CL E G H667411212ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent45
HP:0000388HP:0000389Chronic otitis media1SPAG1 CL E G H667411212ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent45
HP:0000388HP:0000389Chronic otitis media1SPEF2 CL E G H7992526293ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent15
HP:0000388HP:0000403Recurrent otitis media1SPEF2 CL E G H7992526293ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent15
HP:0000388HP:0000403Recurrent otitis media1SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndromeHP:0040283 - Occasional138
HP:0000388HP:0000403Recurrent otitis media1SRY CL E G H673611311ORPHA:177245,X/46,XY mixed gonadal dysgenesisHP:0040283 - Occasional23
HP:0000388HP:0000389Chronic otitis media1STAT3 CL E G H677411364ORPHA:2314Autosomal dominant hyper-IgE syndromeHP:0040282 - Frequent110
HP:0000388HP:0000403Recurrent otitis media1STK36 CL E G H2714817209OMIM:619436CILIARY DYSKINESIA, PRIMARY, 46; CILD463
HP:0000388HP:0000389Chronic otitis media1STK36 CL E G H2714817209ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent3
HP:0000388HP:0000403Recurrent otitis media1STK36 CL E G H2714817209ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent3
HP:0000388HP:0000389Chronic otitis media1STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000388HP:0000389Chronic otitis media1SULT2B1 CL E G H682011459ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional4
HP:0000388HP:0000403Recurrent otitis media1SYK CL E G H685011491OMIM:619381IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD821
HP:0000388HP:0000389Chronic otitis media1TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0000388HP:0000389Chronic otitis media1TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeHP:0040282 - Frequent21
HP:0000388HP:0000403Recurrent otitis media1TAOK1 CL E G H5755129259OMIM:619575DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000388HP:0000389Chronic otitis media1TAP1 CL E G H689043OMIM:604571Bare lymphocyte syndrome, type I.5
HP:0000388HP:0000389Chronic otitis media1TAP2 CL E G H689144OMIM:604571Bare lymphocyte syndrome, type I.17
HP:0000388HP:0000389Chronic otitis media1TAPBP CL E G H689211566OMIM:604571Bare lymphocyte syndrome, type I.3
HP:0000388HP:0000389Chronic otitis media1TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000388HP:0000389Chronic otitis media1TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent32
HP:0000388HP:0000403Recurrent otitis media1TBX1 CL E G H689911592OMIM:188400Digeorge syndrome32
HP:0000388HP:0000389Chronic otitis media1TBX4 CL E G H949611603ORPHA:26127917q23.1q23.2 microdeletion syndromeHP:0040283 - Occasional55
HP:0000388HP:0000403Recurrent otitis media1TCF3 CL E G H692911633OMIM:616941Agammaglobulinemia 8, autosomal dominant2
HP:0000388HP:0000389Chronic otitis media1TCF3 CL E G H692911633ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent2
HP:0000388HP:0000403Recurrent otitis media1TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000388HP:0000389Chronic otitis media1TGDS CL E G H2348320324ORPHA:1388Catel-Manzke syndromeHP:0040282 - Frequent6
HP:0000388HP:0000389Chronic otitis media1TGM1 CL E G H705111777ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional98
HP:0000388HP:0000403Recurrent otitis media1TLR8 CL E G H5131115632OMIM:301078IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0000388HP:0000403Recurrent otitis media1TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0000388HP:0000389Chronic otitis media1TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000388HP:0000389Chronic otitis media1TNFRSF13B CL E G H2349518153ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent32
HP:0000388HP:0000403Recurrent otitis media1TNFRSF13B CL E G H2349518153OMIM:240500Immunodeficiency, common variable, 232
HP:0000388HP:0000389Chronic otitis media1TNFRSF13C CL E G H11565017755ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent12
HP:0000388HP:0000403Recurrent otitis media1TNFRSF13C CL E G H11565017755OMIM:240500Immunodeficiency, common variable, 212
HP:0000388HP:0000389Chronic otitis media1TNFSF12 CL E G H874211927ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent1
HP:0000388HP:0000403Recurrent otitis media1TNRC6B CL E G H2311229190OMIM:619243GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0000388HP:0000403Recurrent otitis media1TP63 CL E G H862615979ORPHA:199306Cleft lip/palateHP:0040282 - Frequent140
HP:0000388HP:0000389Chronic otitis media1TP63 CL E G H862615979ORPHA:199302Isolated cleft lipHP:0040282 - Frequent140
HP:0000388HP:0000403Recurrent otitis media1TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome.140
HP:0000388HP:0000389Chronic otitis media1TP73 CL E G H716112003OMIM:619466CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY; CILD47
HP:0000388HP:0000403Recurrent otitis media1TPP2 CL E G H717412016ORPHA:444463Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndromeHP:0040281 - Very frequent
HP:0000388HP:0000403Recurrent otitis media1TPP2 CL E G H717412016OMIM:619220IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0000388HP:0000403Recurrent otitis media1TTC12 CL E G H5497023700ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000388HP:0000389Chronic otitis media1TTC12 CL E G H5497023700ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000388HP:0000403Recurrent otitis media1UBB CL E G H731412463ORPHA:99772Cleft velumHP:0040283 - Occasional
HP:0000388HP:0000389Chronic otitis media1UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0000388HP:0000403Recurrent otitis media1UNC119 CL E G H909412565OMIM:615518IMMUNODEFICIENCY 13; IMD1330
HP:0000388HP:0000403Recurrent otitis media1USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia8
HP:0000388HP:0000389Chronic otitis media1VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000388HP:0000389Chronic otitis media1WAS CL E G H745412731ORPHA:906Wiskott-Aldrich syndromeHP:0040281 - Very frequent65
HP:0000388HP:0000403Recurrent otitis media1WAS CL E G H745412731OMIM:301000Wiskott-Aldrich syndrome65
HP:0000388HP:0000403Recurrent otitis media1WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040283 - Occasional8
HP:0000388HP:0000403Recurrent otitis media1WDR26 CL E G H8023221208OMIM:617616Skraban-Deardorff syndrome.8
HP:0000388HP:0000389Chronic otitis media1WIPF1 CL E G H745612736ORPHA:906Wiskott-Aldrich syndromeHP:0040281 - Very frequent6
HP:0000388HP:0000403Recurrent otitis media1ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome362
HP:0000388HP:0000403Recurrent otitis media1ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040282 - Frequent362
HP:0000388HP:0000403Recurrent otitis media1ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040282 - Frequent362
HP:0000388HP:0000403Recurrent otitis media1ZMYND10 CL E G H5136419412OMIM:615444Ciliary dyskinesia, primary, 22.20
HP:0000388HP:0000403Recurrent otitis media1ZMYND10 CL E G H5136419412ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent20
HP:0000388HP:0000389Chronic otitis media1ZMYND10 CL E G H5136419412ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent20
HP:0000388HP:0000403Recurrent otitis media1ZNF341 CL E G H8490515992OMIM:618282Hyper-Ige recurrent infection syndrome 3, autosomal recessive.1


Genes (305) :A2ML1 ABCA12 ACP5 ADA ADA2 ADAT3 AGA AK2 ALMS1 ALOX12B ALOXE3 ANAPC1 ANKRD11 AP3B1 APC2 ARHGAP29 ARVCF ASPRV1 ATN1 BAP1 BAZ1B BCL7B BCOR BLM BLNK BMP4 BPTF BTK BUD23 C4B CARMIL2 CCDC103 CCDC39 CCDC40 CCDC47 CCDC65 CCNO CD19 CD247 CD3D CD3E CD3G CD4 CD79A CD79B CD81 CDC42BPB CDH1 CFAP221 CFAP298 CFAP300 CFAP45 CFAP52 CFI CIITA CLCN7 CLIP2 COL11A1 COL2A1 COMT CPLX1 CR2 CREBBP CTBP1 CTLA4 CXCR4 CYBA CYBB CYBC1 CYP4F22 DCLRE1C DDB1 DEAF1 DHCR7 DLG1 DLK1 DLX4 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJC30 DNAL1 DOCK2 DOCK8 DPF2 DRC1 EIF4H ELANE ELN EP300 FCGR3A FGF3 FGFR2 FGFR3 FKBP6 FLII FLNA FMR1 FOCAD FOXJ1 FOXP1 G6PC3 GAS2L2 GAS8 GATA2 GLRA2 GNB2 GNPTAB GNS GP1BB GRHL3 GTF2I GTF2IRD1 GTF2IRD2 GUSB H4C3 H4C5 HEPHL1 HIRA HLA-DPA1 HLA-DPB1 HYAL1 HYDIN ICOS IDS IDUA IGHG2 IGHM IGKC IGLL1 IKBKB IL11RA IL17RA IL21R IL2RB IL2RG IL6R IL6ST IL7R IQSEC2 IRF2BP2 IRF6 JAGN1 JAK3 JMJD1C KANSL1 KAT6A KDM6A KIF15 KMT2D KMT5B LBR LETM1 LIG1 LIMK1 LIPN LRBA LRRC56 LRRC8A MAGT1 MAN2B1 MAP3K7 MAPK1 MCIDAS MEG3 METTL27 MGP MLXIPL MNS1 MS4A1 MSX1 NAA10 NBN NCF1 NCF2 NCF4 NCKAP1L NECTIN1 NEK10 NELFA NFKB1 NFKB2 NIPAL4 NIPBL NME5 NME8 NSD1 NSD2 NXN OCRL ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PCYT1A PDGFRA PGM1 PGM3 PHIP PIGG PIK3CG PIK3R1 PLCG2 PNP POLR3A PRKAR1B PRKCD PRTN3 PSMB8 PSMD12 PTPN22 RAC1 RAC2 RAG1 RAG2 RAI1 RELB RFC2 RFX5 RFXANK RFXAP RNF168 RNF2 RNU4ATAC ROR2 RPGR RPL11 RREB1 RSPH1 RSPH3 RSPH4A RSPH9 RTL1 RUNX2 SDCCAG8 SDR9C7 SEC24C SETD2 SH3KBP1 SLC25A12 SLC35C1 SLC37A4 SMARCA2 SMARCD2 SMG9 SNX10 SPAG1 SPEF2 SPTBN1 SRCAP SRY STAT3 STK36 STX1A SULT2B1 SYK TAF1 TAOK1 TAP1 TAP2 TAPBP TBL2 TBX1 TBX4 TCF3 TCIRG1 TFE3 TGDS TGM1 TLK2 TLR8 TMCO1 TMEM270 TNFRSF13B TNFRSF13C TNFSF11 TNFSF12 TNRC6B TP63 TP73 TPP2 TTC12 UBB UFD1 UNC119 USB1 VPS37D WAS WDR26 WIPF1 ZEB2 ZMYND10 ZNF341

Diseases (235) :OMIM:166760 ORPHA:313 OMIM:607944 ORPHA:277 OMIM:615688 ORPHA:363528 OMIM:615286 ORPHA:93 ORPHA:33355 ORPHA:64 OMIM:203800 OMIM:618625 ORPHA:261250 OMIM:608233 ORPHA:821 ORPHA:199306 ORPHA:567 OMIM:618494 OMIM:619762 ORPHA:904 OMIM:309800 ORPHA:125 OMIM:613502 ORPHA:33110 ORPHA:529962 OMIM:300755 OMIM:307200 ORPHA:47 OMIM:614379 OMIM:618131 ORPHA:244 OMIM:613807 OMIM:613808 OMIM:618268 OMIM:615504 ORPHA:1572 OMIM:240500 OMIM:613493 ORPHA:169160 OMIM:615617 OMIM:615615 OMIM:615607 OMIM:619238 OMIM:613501 OMIM:612692 OMIM:619841 OMIM:615500 OMIM:618063 OMIM:619608 OMIM:619607 OMIM:610984 ORPHA:572 ORPHA:667 OMIM:154780 OMIM:156550 ORPHA:280 ORPHA:353281 ORPHA:353277 ORPHA:900 ORPHA:51636 ORPHA:379 ORPHA:275 OMIM:602450 OMIM:619426 ORPHA:819 OMIM:270400 ORPHA:96184 ORPHA:254531 OMIM:613193 OMIM:614935 OMIM:612518 OMIM:606763 OMIM:614874 OMIM:611884 OMIM:608644 OMIM:244400 OMIM:612444 OMIM:614017 OMIM:616433 ORPHA:217390 OMIM:243700 OMIM:618027 OMIM:615294 ORPHA:2686 OMIM:194050 ORPHA:353284 OMIM:615707 ORPHA:2791 OMIM:101200 OMIM:100800 OMIM:616482 OMIM:602849 OMIM:309350 ORPHA:908 ORPHA:449291 OMIM:619991 ORPHA:391372 OMIM:612541 OMIM:618449 OMIM:616726 ORPHA:3226 OMIM:301076 OMIM:619503 OMIM:252500 ORPHA:576 OMIM:252940 ORPHA:99772 OMIM:253220 OMIM:619758 OMIM:619950 OMIM:261990 OMIM:601492 OMIM:608647 OMIM:607594 OMIM:309900 OMIM:607014 ORPHA:183675 OMIM:601495 OMIM:613500 OMIM:618204 OMIM:614188 OMIM:613953 OMIM:615207 OMIM:618495 OMIM:312863 OMIM:618944 OMIM:618523 OMIM:608971 ORPHA:199302 OMIM:616022 OMIM:600802 ORPHA:35078 ORPHA:363958 ORPHA:363965 OMIM:616268 OMIM:147920 OMIM:300867 ORPHA:261323 OMIM:617788 OMIM:169400 OMIM:619774 OMIM:614700 OMIM:618254 OMIM:300853 ORPHA:309282 OMIM:157800 OMIM:619087 ORPHA:85202 OMIM:245150 OMIM:618948 OMIM:300855 OMIM:251260 OMIM:618982 OMIM:618781 ORPHA:293978 OMIM:615577 OMIM:122470 OMIM:620032 OMIM:117550 ORPHA:1507 ORPHA:534 OMIM:615067 OMIM:615451 OMIM:616037 ORPHA:2750 OMIM:608940 OMIM:614921 ORPHA:443811 ORPHA:589905 OMIM:619802 OMIM:614468 OMIM:613179 ORPHA:3455 OMIM:619680 OMIM:615559 OMIM:256040 OMIM:617751 ORPHA:500159 OMIM:618986 OMIM:601457 OMIM:617585 ORPHA:420741 OMIM:619460 ORPHA:353298 OMIM:616651 OMIM:300455 OMIM:612562 OMIM:616481 OMIM:612650 ORPHA:1452 OMIM:615993 OMIM:616831 OMIM:300310 OMIM:612949 OMIM:266265 ORPHA:99843 OMIM:619525 ORPHA:2728 OMIM:617475 OMIM:619995 OMIM:615505 OMIM:619475 OMIM:136140 ORPHA:1772 ORPHA:2314 OMIM:619436 OMIM:619381 OMIM:300966 ORPHA:480907 OMIM:619575 OMIM:604571 OMIM:188400 ORPHA:261279 OMIM:616941 OMIM:301066 ORPHA:1388 OMIM:618050 OMIM:301078 OMIM:213980 OMIM:619243 OMIM:129400 OMIM:619466 ORPHA:444463 OMIM:619220 OMIM:615518 OMIM:604173 ORPHA:906 OMIM:301000 ORPHA:513456 OMIM:617616 OMIM:235730 ORPHA:261552 ORPHA:261537 OMIM:615444 OMIM:618282
 

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