Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the middle ear (HP:0000370)help
Grandparent Node:
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Increased inflammatory response (HP:0012649)help
Parent Node:
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Otitis media (HP:0000388)help
..Starting node
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Chronic otitis media (HP:0000389)help
Term ID: 389
Name: Chronic otitis media
Synonym: Chronic ear infection; Chronic infections of the middle ear; Chronic middle ear infection; Otitis media, chronic
Definition: Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.
Comments:
Reference: HP:0000389
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAcute otitis media (HP:0000371) help
..expandOtitis media with effusion (HP:0031353) help
..expandRecurrent otitis media (HP:0000403) 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:0000389HP:0000389Chronic otitis media0ABCA12 CL E G H2615414637ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional130
HP:0000389HP:0000389Chronic otitis media0AGA CL E G H175318ORPHA:93AspartylglucosaminuriaHP:0040283 - Occasional76
HP:0000389HP:0000389Chronic otitis media0AK2 CL E G H204362ORPHA:33355Reticular dysgenesisHP:0040281 - Very frequent19
HP:0000389HP:0000389Chronic otitis media0ALOX12B CL E G H242430ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional75
HP:0000389HP:0000389Chronic otitis media0ALOXE3 CL E G H5934413743ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional63
HP:0000389HP:0000389Chronic otitis media0ANKRD11 CL E G H2912321316ORPHA:26125016q24.3 microdeletion syndromeHP:0040283 - Occasional102
HP:0000389HP:0000389Chronic otitis media0APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040282 - Frequent1
HP:0000389HP:0000389Chronic otitis media0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent1
HP:0000389HP:0000389Chronic otitis media0ASPRV1 CL E G H15151626321ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional1
HP:0000389HP:0000389Chronic otitis media0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000389HP:0000389Chronic otitis media0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000389HP:0000389Chronic otitis media0BLNK CL E G H2976014211ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent4
HP:0000389HP:0000389Chronic otitis media0BTK CL E G H6951133ORPHA:47X-linked agammaglobulinemiaHP:0040281 - Very frequent109
HP:0000389HP:0000389Chronic otitis media0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000389HP:0000389Chronic otitis media0CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0000389HP:0000389Chronic otitis media0CCDC103 CL E G H38838932700ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent36
HP:0000389HP:0000389Chronic otitis media0CCDC39 CL E G H33982925244ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent126
HP:0000389HP:0000389Chronic otitis media0CCDC40 CL E G H5503626090ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent182
HP:0000389HP:0000389Chronic otitis media0CCDC65 CL E G H8547829937ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent23
HP:0000389HP:0000389Chronic otitis media0CCNO CL E G H1030918576ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent23
HP:0000389HP:0000389Chronic otitis media0CD19 CL E G H9301633ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent38
HP:0000389HP:0000389Chronic otitis media0CD79A CL E G H9731698ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent9
HP:0000389HP:0000389Chronic otitis media0CD79B CL E G H9741699ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent6
HP:0000389HP:0000389Chronic otitis media0CD81 CL E G H9751701ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent1
HP:0000389HP:0000389Chronic otitis media0CFAP221 CL E G H20037333720ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000389HP:0000389Chronic otitis media0CFAP298 CL E G H566831301ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000389HP:0000389Chronic otitis media0CFAP300 CL E G H8501628188OMIM:618063Ciliary dyskinesia, primary, 38.
HP:0000389HP:0000389Chronic otitis media0CFAP300 CL E G H8501628188ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000389HP:0000389Chronic otitis media0CFAP45 CL E G H2579017229OMIM:619608HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0000389HP:0000389Chronic otitis media0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000389HP:0000389Chronic otitis media0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent6
HP:0000389HP:0000389Chronic otitis media0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional1
HP:0000389HP:0000389Chronic otitis media0CR2 CL E G H13802336ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent10
HP:0000389HP:0000389Chronic otitis media0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional2
HP:0000389HP:0000389Chronic otitis media0CTLA4 CL E G H14932505ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional10
HP:0000389HP:0000389Chronic otitis media0CYP4F22 CL E G H12641026820ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional54
HP:0000389HP:0000389Chronic otitis media0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent33
HP:0000389HP:0000389Chronic otitis media0DNAAF1 CL E G H12387230539ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent116
HP:0000389HP:0000389Chronic otitis media0DNAAF11 CL E G H2363916725ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000389HP:0000389Chronic otitis media0DNAAF2 CL E G H5517220188OMIM:612518CILIARY DYSKINESIA, PRIMARY, 10; CILD1078
HP:0000389HP:0000389Chronic otitis media0DNAAF2 CL E G H5517220188ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent78
HP:0000389HP:0000389Chronic otitis media0DNAAF3 CL E G H35290930492ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent63
HP:0000389HP:0000389Chronic otitis media0DNAAF4 CL E G H16158221493ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent27
HP:0000389HP:0000389Chronic otitis media0DNAAF5 CL E G H5491926013ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent62
HP:0000389HP:0000389Chronic otitis media0DNAAF6 CL E G H13921228570ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000389HP:0000389Chronic otitis media0DNAH1 CL E G H259812940ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent21
HP:0000389HP:0000389Chronic otitis media0DNAH11 CL E G H87012942ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent542
HP:0000389HP:0000389Chronic otitis media0DNAH5 CL E G H17672950ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent527
HP:0000389HP:0000389Chronic otitis media0DNAH9 CL E G H17702953ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent18
HP:0000389HP:0000389Chronic otitis media0DNAI1 CL E G H270192954OMIM:244400Ciliary dyskinesia, primary, 1.73
HP:0000389HP:0000389Chronic otitis media0DNAI1 CL E G H270192954ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent73
HP:0000389HP:0000389Chronic otitis media0DNAI2 CL E G H6444618744OMIM:612444CILIARY DYSKINESIA, PRIMARY, 9; CILD9104
HP:0000389HP:0000389Chronic otitis media0DNAI2 CL E G H6444618744ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent104
HP:0000389HP:0000389Chronic otitis media0DNAJB13 CL E G H37440730718ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent2
HP:0000389HP:0000389Chronic otitis media0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000389HP:0000389Chronic otitis media0DNAL1 CL E G H8354423247OMIM:614017CILIARY DYSKINESIA, PRIMARY, 16; CILD16167
HP:0000389HP:0000389Chronic otitis media0DNAL1 CL E G H8354423247ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent167
HP:0000389HP:0000389Chronic otitis media0DOCK8 CL E G H8170419191ORPHA:217390Combined immunodeficiency due to DOCK8 deficiencyHP:0040281 - Very frequent217
HP:0000389HP:0000389Chronic otitis media0DRC1 CL E G H9274924245ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent44
HP:0000389HP:0000389Chronic otitis media0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000389HP:0000389Chronic otitis media0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040282 - Frequent172
HP:0000389HP:0000389Chronic otitis media0FGFR2 CL E G H22633689OMIM:101200Apert syndrome.175
HP:0000389HP:0000389Chronic otitis media0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000389HP:0000389Chronic otitis media0FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent
HP:0000389HP:0000389Chronic otitis media0FMR1 CL E G H23323775ORPHA:908Fragile X syndromeHP:0040281 - Very frequent30
HP:0000389HP:0000389Chronic otitis media0FOXJ1 CL E G H23023816ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000389HP:0000389Chronic otitis media0GAS2L2 CL E G H24617624846ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent1
HP:0000389HP:0000389Chronic otitis media0GAS8 CL E G H26224166ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent9
HP:0000389HP:0000389Chronic otitis media0GATA2 CL E G H26244171ORPHA:3226Deafness-lymphedema-leukemia syndromeHP:0040282 - Frequent137
HP:0000389HP:0000389Chronic otitis media0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000389HP:0000389Chronic otitis media0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent8
HP:0000389HP:0000389Chronic otitis media0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000389HP:0000389Chronic otitis media0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000389HP:0000389Chronic otitis media0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000389HP:0000389Chronic otitis media0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent3
HP:0000389HP:0000389Chronic otitis media0HLA-DPA1 CL E G H31134938ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional
HP:0000389HP:0000389Chronic otitis media0HLA-DPB1 CL E G H31154940ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional1
HP:0000389HP:0000389Chronic otitis media0HYDIN CL E G H5476819368ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent21
HP:0000389HP:0000389Chronic otitis media0ICOS CL E G H298515351ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent32
HP:0000389HP:0000389Chronic otitis media0IGHM CL E G H35075541ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent7
HP:0000389HP:0000389Chronic otitis media0IGLL1 CL E G H35435870ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent3
HP:0000389HP:0000389Chronic otitis media0IL11RA CL E G H35905967OMIM:614188Craniosynostosis and dental anomalies8
HP:0000389HP:0000389Chronic otitis media0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent119
HP:0000389HP:0000389Chronic otitis media0IRF2BP2 CL E G H35994821729ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent4
HP:0000389HP:0000389Chronic otitis media0IRF6 CL E G H36646121ORPHA:199302Isolated cleft lipHP:0040282 - Frequent99
HP:0000389HP:0000389Chronic otitis media0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent2
HP:0000389HP:0000389Chronic otitis media0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0000389HP:0000389Chronic otitis media0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional2
HP:0000389HP:0000389Chronic otitis media0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000389HP:0000389Chronic otitis media0LIPN CL E G H64341823452ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional1
HP:0000389HP:0000389Chronic otitis media0LRRC56 CL E G H11539925430ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000389HP:0000389Chronic otitis media0LRRC8A CL E G H5626219027ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent3
HP:0000389HP:0000389Chronic otitis media0MCIDAS CL E G H34564340050ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent13
HP:0000389HP:0000389Chronic otitis media0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000389HP:0000389Chronic otitis media0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000389HP:0000389Chronic otitis media0MS4A1 CL E G H9317315ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent1
HP:0000389HP:0000389Chronic otitis media0MSX1 CL E G H44877391ORPHA:199302Isolated cleft lipHP:0040282 - Frequent12
HP:0000389HP:0000389Chronic otitis media0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040282 - Frequent13
HP:0000389HP:0000389Chronic otitis media0NECTIN1 CL E G H58189706ORPHA:199302Isolated cleft lipHP:0040282 - Frequent4
HP:0000389HP:0000389Chronic otitis media0NEK10 CL E G H15211018592ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000389HP:0000389Chronic otitis media0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional
HP:0000389HP:0000389Chronic otitis media0NFKB1 CL E G H47907794ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent7
HP:0000389HP:0000389Chronic otitis media0NFKB2 CL E G H47917795ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent11
HP:0000389HP:0000389Chronic otitis media0NIPAL4 CL E G H34893828018ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional60
HP:0000389HP:0000389Chronic otitis media0NME8 CL E G H5131416473ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent50
HP:0000389HP:0000389Chronic otitis media0NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040282 - Frequent544
HP:0000389HP:0000389Chronic otitis media0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional118
HP:0000389HP:0000389Chronic otitis media0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040282 - Frequent2
HP:0000389HP:0000389Chronic otitis media0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040283 - Occasional88
HP:0000389HP:0000389Chronic otitis media0ODAD1 CL E G H9323326560ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000389HP:0000389Chronic otitis media0ODAD2 CL E G H5513025583ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000389HP:0000389Chronic otitis media0ODAD3 CL E G H11594828303ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000389HP:0000389Chronic otitis media0ODAD4 CL E G H8353825280ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000389HP:0000389Chronic otitis media0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040283 - Occasional201
HP:0000389HP:0000389Chronic otitis media0OFD1 CL E G H84812567ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent201
HP:0000389HP:0000389Chronic otitis media0PGM3 CL E G H52388907ORPHA:443811PGM3-CDGHP:0040282 - Frequent15
HP:0000389HP:0000389Chronic otitis media0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional7
HP:0000389HP:0000389Chronic otitis media0PIK3R1 CL E G H52958979ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent43
HP:0000389HP:0000389Chronic otitis media0PRKCD CL E G H55809399ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent10
HP:0000389HP:0000389Chronic otitis media0PRTN3 CL E G H56579495ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional
HP:0000389HP:0000389Chronic otitis media0PTPN22 CL E G H261919652ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional3
HP:0000389HP:0000389Chronic otitis media0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent150
HP:0000389HP:0000389Chronic otitis media0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000389HP:0000389Chronic otitis media0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040282 - Frequent120
HP:0000389HP:0000389Chronic otitis media0RPGR CL E G H610310295ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent200
HP:0000389HP:0000389Chronic otitis media0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0000389HP:0000389Chronic otitis media0RSPH1 CL E G H8976512371ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent31
HP:0000389HP:0000389Chronic otitis media0RSPH3 CL E G H8386121054ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent5
HP:0000389HP:0000389Chronic otitis media0RSPH4A CL E G H34589521558ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent58
HP:0000389HP:0000389Chronic otitis media0RSPH9 CL E G H22142121057OMIM:612650CILIARY DYSKINESIA, PRIMARY, 12; CILD1220
HP:0000389HP:0000389Chronic otitis media0RSPH9 CL E G H22142121057ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent20
HP:0000389HP:0000389Chronic otitis media0RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasiaHP:0040282 - Frequent90
HP:0000389HP:0000389Chronic otitis media0SDR9C7 CL E G H12121429958ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional2
HP:0000389HP:0000389Chronic otitis media0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0000389HP:0000389Chronic otitis media0SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040282 - Frequent60
HP:0000389HP:0000389Chronic otitis media0SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944
HP:0000389HP:0000389Chronic otitis media0SPAG1 CL E G H667411212ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent45
HP:0000389HP:0000389Chronic otitis media0SPEF2 CL E G H7992526293ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent15
HP:0000389HP:0000389Chronic otitis media0STAT3 CL E G H677411364ORPHA:2314Autosomal dominant hyper-IgE syndromeHP:0040282 - Frequent110
HP:0000389HP:0000389Chronic otitis media0STK36 CL E G H2714817209ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent3
HP:0000389HP:0000389Chronic otitis media0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000389HP:0000389Chronic otitis media0SULT2B1 CL E G H682011459ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional4
HP:0000389HP:0000389Chronic otitis media0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0000389HP:0000389Chronic otitis media0TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeHP:0040282 - Frequent21
HP:0000389HP:0000389Chronic otitis media0TAP1 CL E G H689043OMIM:604571Bare lymphocyte syndrome, type I.5
HP:0000389HP:0000389Chronic otitis media0TAP2 CL E G H689144OMIM:604571Bare lymphocyte syndrome, type I.17
HP:0000389HP:0000389Chronic otitis media0TAPBP CL E G H689211566OMIM:604571Bare lymphocyte syndrome, type I.3
HP:0000389HP:0000389Chronic otitis media0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000389HP:0000389Chronic otitis media0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent32
HP:0000389HP:0000389Chronic otitis media0TBX4 CL E G H949611603ORPHA:26127917q23.1q23.2 microdeletion syndromeHP:0040283 - Occasional55
HP:0000389HP:0000389Chronic otitis media0TCF3 CL E G H692911633ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent2
HP:0000389HP:0000389Chronic otitis media0TGDS CL E G H2348320324ORPHA:1388Catel-Manzke syndromeHP:0040282 - Frequent6
HP:0000389HP:0000389Chronic otitis media0TGM1 CL E G H705111777ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional98
HP:0000389HP:0000389Chronic otitis media0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000389HP:0000389Chronic otitis media0TNFRSF13B CL E G H2349518153ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent32
HP:0000389HP:0000389Chronic otitis media0TNFRSF13C CL E G H11565017755ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent12
HP:0000389HP:0000389Chronic otitis media0TNFSF12 CL E G H874211927ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent1
HP:0000389HP:0000389Chronic otitis media0TP63 CL E G H862615979ORPHA:199302Isolated cleft lipHP:0040282 - Frequent140
HP:0000389HP:0000389Chronic otitis media0TP73 CL E G H716112003OMIM:619466CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY; CILD47
HP:0000389HP:0000389Chronic otitis media0TTC12 CL E G H5497023700ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0000389HP:0000389Chronic otitis media0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0000389HP:0000389Chronic otitis media0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000389HP:0000389Chronic otitis media0WAS CL E G H745412731ORPHA:906Wiskott-Aldrich syndromeHP:0040281 - Very frequent65
HP:0000389HP:0000389Chronic otitis media0WIPF1 CL E G H745612736ORPHA:906Wiskott-Aldrich syndromeHP:0040281 - Very frequent6
HP:0000389HP:0000389Chronic otitis media0ZMYND10 CL E G H5136419412ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent20


Genes (157) :ABCA12 AGA AK2 ALOX12B ALOXE3 ANKRD11 APC2 ARVCF ASPRV1 BAZ1B BCL7B BLNK BTK BUD23 CARMIL2 CCDC103 CCDC39 CCDC40 CCDC65 CCNO CD19 CD79A CD79B CD81 CFAP221 CFAP298 CFAP300 CFAP45 CLIP2 COMT CPLX1 CR2 CTBP1 CTLA4 CYP4F22 DEAF1 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJC30 DNAL1 DOCK8 DRC1 EIF4H ELN FGFR2 FKBP6 FLII FMR1 FOXJ1 GAS2L2 GAS8 GATA2 GNB2 GP1BB GTF2I GTF2IRD1 GTF2IRD2 HIRA HLA-DPA1 HLA-DPB1 HYDIN ICOS IGHM IGLL1 IL11RA IQSEC2 IRF2BP2 IRF6 JMJD1C KAT6A LETM1 LIMK1 LIPN LRRC56 LRRC8A MCIDAS METTL27 MLXIPL MS4A1 MSX1 NCF1 NECTIN1 NEK10 NELFA NFKB1 NFKB2 NIPAL4 NME8 NSD1 NSD2 NXN OCRL ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PGM3 PIGG PIK3R1 PRKCD PRTN3 PTPN22 RAI1 RFC2 ROR2 RPGR RREB1 RSPH1 RSPH3 RSPH4A RSPH9 RUNX2 SDR9C7 SEC24C SETD2 SLC25A12 SPAG1 SPEF2 STAT3 STK36 STX1A SULT2B1 TAF1 TAP1 TAP2 TAPBP TBL2 TBX1 TBX4 TCF3 TGDS TGM1 TMEM270 TNFRSF13B TNFRSF13C TNFSF12 TP63 TP73 TTC12 UFD1 VPS37D WAS WIPF1 ZMYND10

Diseases (44) :ORPHA:313 ORPHA:93 ORPHA:33355 ORPHA:261250 ORPHA:821 ORPHA:567 ORPHA:904 ORPHA:33110 ORPHA:47 OMIM:618131 ORPHA:244 ORPHA:1572 OMIM:618063 OMIM:619608 ORPHA:280 ORPHA:900 ORPHA:819 OMIM:612518 OMIM:244400 OMIM:612444 OMIM:614017 ORPHA:217390 OMIM:101200 ORPHA:908 ORPHA:3226 OMIM:619503 OMIM:614188 ORPHA:199302 OMIM:616268 ORPHA:1507 ORPHA:534 ORPHA:2750 ORPHA:443811 OMIM:612650 ORPHA:1452 OMIM:612949 ORPHA:2314 OMIM:300966 ORPHA:480907 OMIM:604571 ORPHA:261279 ORPHA:1388 OMIM:619466 ORPHA:906
 

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