Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the ear (HP:0000598)help
Parent Node:
expand
Abnormal ear morphology (HP:0031703)help
..Starting node
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Abnormality of the middle ear (HP:0000370)help
Term ID: 370
Name: Abnormality of the middle ear
Synonym: Middle ear abnormalities; Middle ear abnormality
Definition: An abnormality of the middle ear.
Comments:
Reference: HP:0000370
Genes and Diseases:
 
       Child Nodes:
........expandOtitis media (HP:0000388) help
................... HP:0000371 Acute otitis media
................... HP:0000389 Chronic otitis media
................... HP:0000403 Recurrent otitis media
................... HP:0031353 Otitis media with effusion
........expandMorphological abnormality of the middle ear (HP:0008609) help
................... HP:0004452 Abnormality of the middle ear ossicles
................... HP:0008773 Aplasia/Hypoplasia of the middle ear
................... HP:0009797 Cholesteatoma
................... HP:0011475 Persistent stapedial artery
........expandFunctional abnormality of the middle ear (HP:0011452) help
................... HP:0000405 Conductive hearing impairment
................... HP:0004454 Abnormal middle ear reflexes
........expandAbnormality of the tympanic membrane (HP:0040090) help
........expandAbnormality of the round window (HP:0040099) help
........expandAbnormality of the vestibular window (HP:0040100) help
........expandAbnormality of the Eustachian tube (HP:0040115) help
................... HP:0040116 Aplasia of the Eustachian tube
................... HP:0040117 Atresia of the Eustachian tube
................... HP:0040118 Stenosis of the Eustachian tube
................... HP:0040124 Patent tuba eustachii
................... HP:0040269 Blocked Eustachian tube
........expandGlue ear (HP:0040262) help
........expandRecurrent infections of the middle ear (HP:0040268) help
........expandNeoplasm of the middle ear (HP:0100799) help
................... HP:0009797 Cholesteatoma

 Sister Nodes: 
..expandAbnormality of the inner ear (HP:0000359) help
..expandAbnormality of the outer ear (HP:0000356) help
..expandAplasia/Hypoplasia of the ear (HP:0008771) help
..expandNeoplasm of the ear (HP:0012780) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000370HP:0000370Abnormality of the middle ear0PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0000370Abnormality of the middle ear0PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0000370Abnormality of the middle ear0PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0000370Abnormality of the middle ear0PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0000370Abnormality of the middle ear0TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0000370Abnormality of the middle ear0TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0000388Otitis media1PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0008609Morphological abnormality of the middle ear1PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0011452Functional abnormality of the middle ear1PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0040100Abnormality of the vestibular window1PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0000388Otitis media1PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0008609Morphological abnormality of the middle ear1PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0011452Functional abnormality of the middle ear1PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0040100Abnormality of the vestibular window1PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0100799Neoplasm of the middle ear1PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0040262Glue ear1PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0040090Abnormality of the tympanic membrane1PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0040099Abnormality of the round window1PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0040115Abnormality of the Eustachian tube1PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0040268Recurrent infections of the middle ear1PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0100799Neoplasm of the middle ear1PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0040262Glue ear1PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0040090Abnormality of the tympanic membrane1PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0040099Abnormality of the round window1PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0040115Abnormality of the Eustachian tube1PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0040268Recurrent infections of the middle ear1PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0040268Recurrent infections of the middle ear1PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0100799Neoplasm of the middle ear1PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0008609Morphological abnormality of the middle ear1PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0011452Functional abnormality of the middle ear1PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0040100Abnormality of the vestibular window1PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0000388Otitis media1PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0008609Morphological abnormality of the middle ear1PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0011452Functional abnormality of the middle ear1PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0040100Abnormality of the vestibular window1PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0000388Otitis media1PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0040262Glue ear1PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0040090Abnormality of the tympanic membrane1PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0040099Abnormality of the round window1PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0040115Abnormality of the Eustachian tube1PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0040268Recurrent infections of the middle ear1PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0100799Neoplasm of the middle ear1PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0040262Glue ear1PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0040090Abnormality of the tympanic membrane1PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0040099Abnormality of the round window1PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0040115Abnormality of the Eustachian tube1PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0000388Otitis media1TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0008609Morphological abnormality of the middle ear1TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0011452Functional abnormality of the middle ear1TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0040100Abnormality of the vestibular window1TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0000388Otitis media1TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0008609Morphological abnormality of the middle ear1TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0011452Functional abnormality of the middle ear1TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0040100Abnormality of the vestibular window1TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0100799Neoplasm of the middle ear1TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0040262Glue ear1TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0040090Abnormality of the tympanic membrane1TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0040099Abnormality of the round window1TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0040115Abnormality of the Eustachian tube1TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0040268Recurrent infections of the middle ear1TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0100799Neoplasm of the middle ear1TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0040262Glue ear1TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0040090Abnormality of the tympanic membrane1TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0040099Abnormality of the round window1TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0040115Abnormality of the Eustachian tube1TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0040268Recurrent infections of the middle ear1TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0040269Blocked Eustachian tube2PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0020123Tympanosclerosis2PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0040118Stenosis of the Eustachian tube2PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0000405Conductive hearing impairment2PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0000389Chronic otitis media2PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0000403Recurrent otitis media2PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0040116Aplasia of the Eustachian tube2PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0009797Cholesteatoma2PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0040269Blocked Eustachian tube2PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0020123Tympanosclerosis2PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0040118Stenosis of the Eustachian tube2PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0000405Conductive hearing impairment2PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0000389Chronic otitis media2PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0000403Recurrent otitis media2PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0040116Aplasia of the Eustachian tube2PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0009797Cholesteatoma2PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0011475Persistent stapedial artery2PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0040124Patent tuba eustachii2PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0000371Acute otitis media2PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0004452Abnormality of the middle ear ossicles2PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0004454Abnormal middle ear reflexes2PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0031353Otitis media with effusion2PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0008773Aplasia/Hypoplasia of the middle ear2PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0040117Atresia of the Eustachian tube2PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0011475Persistent stapedial artery2PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0040124Patent tuba eustachii2PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0000371Acute otitis media2PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0004452Abnormality of the middle ear ossicles2PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0004454Abnormal middle ear reflexes2PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0031353Otitis media with effusion2PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0008773Aplasia/Hypoplasia of the middle ear2PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0040117Atresia of the Eustachian tube2PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0011475Persistent stapedial artery2PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0000371Acute otitis media2PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0031353Otitis media with effusion2PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0008773Aplasia/Hypoplasia of the middle ear2PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0040116Aplasia of the Eustachian tube2PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0040269Blocked Eustachian tube2PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0040118Stenosis of the Eustachian tube2PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0000405Conductive hearing impairment2PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0009797Cholesteatoma2PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0020123Tympanosclerosis2PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0000389Chronic otitis media2PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0000403Recurrent otitis media2PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0040269Blocked Eustachian tube2PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0040118Stenosis of the Eustachian tube2PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0000405Conductive hearing impairment2PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0040116Aplasia of the Eustachian tube2PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0009797Cholesteatoma2PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0020123Tympanosclerosis2PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0000389Chronic otitis media2PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0000403Recurrent otitis media2PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0040117Atresia of the Eustachian tube2PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0040124Patent tuba eustachii2PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0004454Abnormal middle ear reflexes2PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0008773Aplasia/Hypoplasia of the middle ear2PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0011475Persistent stapedial artery2PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0000371Acute otitis media2PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0004452Abnormality of the middle ear ossicles2PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0031353Otitis media with effusion2PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0040117Atresia of the Eustachian tube2PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0040124Patent tuba eustachii2PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0004452Abnormality of the middle ear ossicles2PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0004454Abnormal middle ear reflexes2PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0040118Stenosis of the Eustachian tube2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0000405Conductive hearing impairment2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0000389Chronic otitis media2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0000403Recurrent otitis media2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0040116Aplasia of the Eustachian tube2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0009797Cholesteatoma2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0040269Blocked Eustachian tube2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0020123Tympanosclerosis2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0040118Stenosis of the Eustachian tube2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0000405Conductive hearing impairment2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0000389Chronic otitis media2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0000403Recurrent otitis media2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0040116Aplasia of the Eustachian tube2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0009797Cholesteatoma2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0040269Blocked Eustachian tube2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0020123Tympanosclerosis2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0040124Patent tuba eustachii2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0000371Acute otitis media2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0004452Abnormality of the middle ear ossicles2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0004454Abnormal middle ear reflexes2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0031353Otitis media with effusion2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0008773Aplasia/Hypoplasia of the middle ear2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0040117Atresia of the Eustachian tube2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0011475Persistent stapedial artery2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0000371Acute otitis media2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0004452Abnormality of the middle ear ossicles2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0004454Abnormal middle ear reflexes2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0031353Otitis media with effusion2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0008773Aplasia/Hypoplasia of the middle ear2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0040117Atresia of the Eustachian tube2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0011475Persistent stapedial artery2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0040124Patent tuba eustachii2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0008607Progressive conductive hearing impairment3PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0040119Unilateral conductive hearing impairment3PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0008591Congenital conductive hearing impairment3PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0011453Abnormality of the incus3PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0040121Abnormality of the acoustic reflex3PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0005473Fusion of middle ear ossicles3PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0000410Mixed hearing impairment3PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0040119Unilateral conductive hearing impairment3PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0008591Congenital conductive hearing impairment3PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0011453Abnormality of the incus3PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0040121Abnormality of the acoustic reflex3PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0005473Fusion of middle ear ossicles3PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0000410Mixed hearing impairment3PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0008607Progressive conductive hearing impairment3PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0040120Abnormality of the reflex of the tensor tympani muscle3PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0012717Severe conductive hearing impairment3PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0008513Bilateral conductive hearing impairment3PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0009910Aplasia of the middle ear ossicles3PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0008598Mild conductive hearing impairment3PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0011454Abnormality of the malleus3PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0012716Moderate conductive hearing impairment3PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0008628Abnormality of the stapes3PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0012717Severe conductive hearing impairment3PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0008513Bilateral conductive hearing impairment3PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0009910Aplasia of the middle ear ossicles3PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0008598Mild conductive hearing impairment3PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0011454Abnormality of the malleus3PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0012716Moderate conductive hearing impairment3PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0008628Abnormality of the stapes3PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0040120Abnormality of the reflex of the tensor tympani muscle3PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0008628Abnormality of the stapes3PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0009910Aplasia of the middle ear ossicles3PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0011454Abnormality of the malleus3PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0008607Progressive conductive hearing impairment3PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0040119Unilateral conductive hearing impairment3PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0008591Congenital conductive hearing impairment3PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0040121Abnormality of the acoustic reflex3PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0000410Mixed hearing impairment3PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0011453Abnormality of the incus3PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0005473Fusion of middle ear ossicles3PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0008607Progressive conductive hearing impairment3PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0040119Unilateral conductive hearing impairment3PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0008591Congenital conductive hearing impairment3PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0040121Abnormality of the acoustic reflex3PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0000410Mixed hearing impairment3PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0011453Abnormality of the incus3PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0005473Fusion of middle ear ossicles3PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0012716Moderate conductive hearing impairment3PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0040120Abnormality of the reflex of the tensor tympani muscle3PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0012717Severe conductive hearing impairment3PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0008513Bilateral conductive hearing impairment3PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0008598Mild conductive hearing impairment3PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0008628Abnormality of the stapes3PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0009910Aplasia of the middle ear ossicles3PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0011454Abnormality of the malleus3PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0012716Moderate conductive hearing impairment3PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0040120Abnormality of the reflex of the tensor tympani muscle3PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0012717Severe conductive hearing impairment3PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0008513Bilateral conductive hearing impairment3PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0008598Mild conductive hearing impairment3PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0040119Unilateral conductive hearing impairment3TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0008591Congenital conductive hearing impairment3TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0011453Abnormality of the incus3TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0040121Abnormality of the acoustic reflex3TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0005473Fusion of middle ear ossicles3TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0000410Mixed hearing impairment3TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0008607Progressive conductive hearing impairment3TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0040119Unilateral conductive hearing impairment3TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0008591Congenital conductive hearing impairment3TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0011453Abnormality of the incus3TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0040121Abnormality of the acoustic reflex3TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0005473Fusion of middle ear ossicles3TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0000410Mixed hearing impairment3TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0008607Progressive conductive hearing impairment3TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0008513Bilateral conductive hearing impairment3TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0009910Aplasia of the middle ear ossicles3TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0008598Mild conductive hearing impairment3TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0011454Abnormality of the malleus3TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0012716Moderate conductive hearing impairment3TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0008628Abnormality of the stapes3TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0040120Abnormality of the reflex of the tensor tympani muscle3TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0012717Severe conductive hearing impairment3TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0008513Bilateral conductive hearing impairment3TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0009910Aplasia of the middle ear ossicles3TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0008598Mild conductive hearing impairment3TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0011454Abnormality of the malleus3TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0012716Moderate conductive hearing impairment3TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0008628Abnormality of the stapes3TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0040120Abnormality of the reflex of the tensor tympani muscle3TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0012717Severe conductive hearing impairment3TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0011456Absent stapes4PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0040114Absence of the reflex of the tensor tympani muscle4PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0000362Otosclerosis4PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0011455Absent malleus4PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0040122Impairment of the the acoustic reflex4PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0011456Absent stapes4PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0040114Absence of the reflex of the tensor tympani muscle4PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0000362Otosclerosis4PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0011455Absent malleus4PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0040122Impairment of the the acoustic reflex4PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0200111Absent stapes head4PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0040123Impairment of the reflex of the tensor tympani muscle4PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0000381Stapes ankylosis4PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0008529Absence of acoustic reflex4PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0200111Absent stapes head4PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0040123Impairment of the reflex of the tensor tympani muscle4PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0000381Stapes ankylosis4PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0008529Absence of acoustic reflex4PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0200111Absent stapes head4PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0000381Stapes ankylosis4PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0040122Impairment of the the acoustic reflex4PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0040114Absence of the reflex of the tensor tympani muscle4PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0011455Absent malleus4PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0011456Absent stapes4PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0000362Otosclerosis4PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0040122Impairment of the the acoustic reflex4PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0040114Absence of the reflex of the tensor tympani muscle4PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0011455Absent malleus4PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0011456Absent stapes4PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0000362Otosclerosis4PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0008529Absence of acoustic reflex4PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0040123Impairment of the reflex of the tensor tympani muscle4PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0200111Absent stapes head4PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0000381Stapes ankylosis4PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0040123Impairment of the reflex of the tensor tympani muscle4PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0008529Absence of acoustic reflex4PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0000362Otosclerosis4TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0011455Absent malleus4TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0040122Impairment of the the acoustic reflex4TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0011456Absent stapes4TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0040114Absence of the reflex of the tensor tympani muscle4TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0000362Otosclerosis4TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0011455Absent malleus4TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0040122Impairment of the the acoustic reflex4TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0011456Absent stapes4TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0040114Absence of the reflex of the tensor tympani muscle4TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0200111Absent stapes head4TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0040123Impairment of the reflex of the tensor tympani muscle4TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0000381Stapes ankylosis4TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0008529Absence of acoustic reflex4TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0040123Impairment of the reflex of the tensor tympani muscle4TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0000381Stapes ankylosis4TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0008529Absence of acoustic reflex4TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0200111Absent stapes head4TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000370HP:0007943Congenital stapes ankylosis5PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000370HP:0007943Congenital stapes ankylosis5PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000370HP:0007943Congenital stapes ankylosis5PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000370HP:0007943Congenital stapes ankylosis5PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000370HP:0007943Congenital stapes ankylosis5TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000370HP:0007943Congenital stapes ankylosis5TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000370HP:0000370Abnormality of the middle ear0PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0000370Abnormality of the middle ear0PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0000370Abnormality of the middle ear0TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0000370Abnormality of the middle ear0TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0040100Abnormality of the vestibular window1PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0000388Otitis media1PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0008609Morphological abnormality of the middle ear1PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0011452Functional abnormality of the middle ear1PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0040100Abnormality of the vestibular window1PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0000388Otitis media1PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0008609Morphological abnormality of the middle ear1PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0011452Functional abnormality of the middle ear1PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0040115Abnormality of the Eustachian tube1PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0040268Recurrent infections of the middle ear1PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0100799Neoplasm of the middle ear1PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0040262Glue ear1PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0040090Abnormality of the tympanic membrane1PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0040099Abnormality of the round window1PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0040115Abnormality of the Eustachian tube1PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0040268Recurrent infections of the middle ear1PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0100799Neoplasm of the middle ear1PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0040262Glue ear1PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0040090Abnormality of the tympanic membrane1PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0040099Abnormality of the round window1PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0008609Morphological abnormality of the middle ear1TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0011452Functional abnormality of the middle ear1TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0040100Abnormality of the vestibular window1TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0000388Otitis media1TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0011452Functional abnormality of the middle ear1TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0040100Abnormality of the vestibular window1TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0000388Otitis media1TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0008609Morphological abnormality of the middle ear1TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0040099Abnormality of the round window1TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0040115Abnormality of the Eustachian tube1TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0040268Recurrent infections of the middle ear1TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0100799Neoplasm of the middle ear1TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0040262Glue ear1TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0040090Abnormality of the tympanic membrane1TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0040099Abnormality of the round window1TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0040115Abnormality of the Eustachian tube1TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0040268Recurrent infections of the middle ear1TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0100799Neoplasm of the middle ear1TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0040262Glue ear1TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0040090Abnormality of the tympanic membrane1TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0000389Chronic otitis media2PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0000403Recurrent otitis media2PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0040116Aplasia of the Eustachian tube2PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0009797Cholesteatoma2PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0040269Blocked Eustachian tube2PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0020123Tympanosclerosis2PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0040118Stenosis of the Eustachian tube2PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0000405Conductive hearing impairment2PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0000403Recurrent otitis media2PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0040116Aplasia of the Eustachian tube2PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0009797Cholesteatoma2PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0040269Blocked Eustachian tube2PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0020123Tympanosclerosis2PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0040118Stenosis of the Eustachian tube2PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0000405Conductive hearing impairment2PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0000389Chronic otitis media2PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0004454Abnormal middle ear reflexes2PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0031353Otitis media with effusion2PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0008773Aplasia/Hypoplasia of the middle ear2PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0040117Atresia of the Eustachian tube2PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0011475Persistent stapedial artery2PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0040124Patent tuba eustachii2PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0000371Acute otitis media2PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0004452Abnormality of the middle ear ossicles2PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0031353Otitis media with effusion2PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0008773Aplasia/Hypoplasia of the middle ear2PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0040117Atresia of the Eustachian tube2PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0011475Persistent stapedial artery2PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0040124Patent tuba eustachii2PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0000371Acute otitis media2PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0004452Abnormality of the middle ear ossicles2PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0004454Abnormal middle ear reflexes2PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0000389Chronic otitis media2TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0000403Recurrent otitis media2TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0040116Aplasia of the Eustachian tube2TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0009797Cholesteatoma2TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0040269Blocked Eustachian tube2TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0020123Tympanosclerosis2TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0040118Stenosis of the Eustachian tube2TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0000405Conductive hearing impairment2TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0000389Chronic otitis media2TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0000403Recurrent otitis media2TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0040116Aplasia of the Eustachian tube2TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0009797Cholesteatoma2TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0040269Blocked Eustachian tube2TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0020123Tympanosclerosis2TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0040118Stenosis of the Eustachian tube2TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0000405Conductive hearing impairment2TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0000371Acute otitis media2TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0004452Abnormality of the middle ear ossicles2TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0004454Abnormal middle ear reflexes2TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0031353Otitis media with effusion2TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0008773Aplasia/Hypoplasia of the middle ear2TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0040117Atresia of the Eustachian tube2TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0011475Persistent stapedial artery2TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0040124Patent tuba eustachii2TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0000371Acute otitis media2TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0004452Abnormality of the middle ear ossicles2TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0004454Abnormal middle ear reflexes2TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0031353Otitis media with effusion2TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0008773Aplasia/Hypoplasia of the middle ear2TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0040117Atresia of the Eustachian tube2TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0011475Persistent stapedial artery2TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0040124Patent tuba eustachii2TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0008591Congenital conductive hearing impairment3PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0011453Abnormality of the incus3PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0040121Abnormality of the acoustic reflex3PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0005473Fusion of middle ear ossicles3PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0000410Mixed hearing impairment3PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0008607Progressive conductive hearing impairment3PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0040119Unilateral conductive hearing impairment3PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0011453Abnormality of the incus3PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0040121Abnormality of the acoustic reflex3PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0005473Fusion of middle ear ossicles3PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0000410Mixed hearing impairment3PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0008607Progressive conductive hearing impairment3PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0040119Unilateral conductive hearing impairment3PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0008591Congenital conductive hearing impairment3PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0009910Aplasia of the middle ear ossicles3PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0008598Mild conductive hearing impairment3PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0011454Abnormality of the malleus3PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0012716Moderate conductive hearing impairment3PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0008628Abnormality of the stapes3PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0040120Abnormality of the reflex of the tensor tympani muscle3PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0012717Severe conductive hearing impairment3PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0008513Bilateral conductive hearing impairment3PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0008598Mild conductive hearing impairment3PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0011454Abnormality of the malleus3PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0012716Moderate conductive hearing impairment3PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0008628Abnormality of the stapes3PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0040120Abnormality of the reflex of the tensor tympani muscle3PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0012717Severe conductive hearing impairment3PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0008513Bilateral conductive hearing impairment3PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0009910Aplasia of the middle ear ossicles3PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0008591Congenital conductive hearing impairment3TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0011453Abnormality of the incus3TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0040121Abnormality of the acoustic reflex3TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0005473Fusion of middle ear ossicles3TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0000410Mixed hearing impairment3TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0008607Progressive conductive hearing impairment3TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0040119Unilateral conductive hearing impairment3TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0008591Congenital conductive hearing impairment3TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0011453Abnormality of the incus3TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0040121Abnormality of the acoustic reflex3TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0005473Fusion of middle ear ossicles3TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0000410Mixed hearing impairment3TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0008607Progressive conductive hearing impairment3TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0040119Unilateral conductive hearing impairment3TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0008513Bilateral conductive hearing impairment3TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0009910Aplasia of the middle ear ossicles3TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0008598Mild conductive hearing impairment3TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0011454Abnormality of the malleus3TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0012716Moderate conductive hearing impairment3TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0008628Abnormality of the stapes3TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0040120Abnormality of the reflex of the tensor tympani muscle3TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0012717Severe conductive hearing impairment3TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0008513Bilateral conductive hearing impairment3TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0009910Aplasia of the middle ear ossicles3TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0008598Mild conductive hearing impairment3TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0011454Abnormality of the malleus3TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0012716Moderate conductive hearing impairment3TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0008628Abnormality of the stapes3TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0040120Abnormality of the reflex of the tensor tympani muscle3TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0012717Severe conductive hearing impairment3TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0011455Absent malleus4PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0040122Impairment of the the acoustic reflex4PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0011456Absent stapes4PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0040114Absence of the reflex of the tensor tympani muscle4PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0000362Otosclerosis4PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0011455Absent malleus4PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0040122Impairment of the the acoustic reflex4PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0011456Absent stapes4PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0040114Absence of the reflex of the tensor tympani muscle4PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0000362Otosclerosis4PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0008529Absence of acoustic reflex4PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0200111Absent stapes head4PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0040123Impairment of the reflex of the tensor tympani muscle4PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0000381Stapes ankylosis4PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0008529Absence of acoustic reflex4PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0200111Absent stapes head4PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0040123Impairment of the reflex of the tensor tympani muscle4PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0000381Stapes ankylosis4PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0011455Absent malleus4TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0040122Impairment of the the acoustic reflex4TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0011456Absent stapes4TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0040114Absence of the reflex of the tensor tympani muscle4TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0000362Otosclerosis4TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0011455Absent malleus4TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0040122Impairment of the the acoustic reflex4TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0011456Absent stapes4TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0040114Absence of the reflex of the tensor tympani muscle4TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0000362Otosclerosis4TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0008529Absence of acoustic reflex4TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0200111Absent stapes head4TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0040123Impairment of the reflex of the tensor tympani muscle4TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0000381Stapes ankylosis4TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0008529Absence of acoustic reflex4TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0200111Absent stapes head4TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0040123Impairment of the reflex of the tensor tympani muscle4TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0000381Stapes ankylosis4TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000370HP:0007943Congenital stapes ankylosis5PLG CL E G H5340722ORPHA01659071173350
HP:0000370HP:0007943Congenital stapes ankylosis5PLG CL E G H5340722ORPHA01599071173350
HP:0000370HP:0007943Congenital stapes ankylosis5TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000370HP:0007943Congenital stapes ankylosis5TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273


Genes (388) :ABCA12 ABCA4 ACP5 ACVR1 ADA ADAMTS3 AGA AGBL5 AHI1 AHR AIFM1 AK2 ALMS1 ALOX12B ALOXE3 ALX1 ALX3 AMER1 AMMECR1 ANKH ANKRD11 APC2 ARHGEF18 ARID2 ARL2BP ARL3 ARL6 ARMC4 ARVCF B3GLCT BAZ1B BBS2 BCOR BEST1 BLNK BMP2 BPTF BTK C8ORF37 CA4 CCBE1 CCDC114 CCDC151 CCDC39 CCDC40 CCDC47 CCDC65 CD19 CD3D CD3E CD3G CD79A CD79B CD81 CDCA7 CDH1 CDH11 CDHR1 CERKL CFAP298 CFAP300 CFI CHD7 CHRNG CLCN7 CLIP2 CLRN1 CNGA1 CNGB1 COL11A2 COL1A1 COL1A2 COL2A1 COMT CPLANE1 CPLX1 CR2 CRB1 CRX CTBP1 CTLA4 CTNND1 CYBA CYBB CYBC1 CYP4F22 DCHS1 DCLRE1C DEAF1 DHCR7 DHDDS DHODH DHX38 DIAPH3 DNAAF1 DNAAF2 DNAAF3 DNAAF5 DNAI1 DNAI2 DNAL1 DOCK8 DPF2 DRC1 DVL1 EDN1 EDNRA EFTUD2 ELMO2 ELN ERF EXT1 EYA1 EYA4 EYS FAM161A FAM20C FANCI FAT4 FBN1 FCGR3A FGF10 FGF3 FGF9 FGFR2 FGFR3 FGFRL1 FH FKBP14 FLII FLNA FLNB FMR1 FRAS1 FREM2 FSCN2 GABRD GAS8 GATA1 GATA2 GDF5 GDF6 GJA1 GJB2 GJB6 GMNN GNPTAB GP1BB GRIP1 GSC GTF2I GTF2IRD1 GUCA1B HDAC4 HDAC8 HGSNAT HIRA HLA-DPA1 HLA-DPB1 HOXA2 HYAL1 HYDIN ICOS IDH3B IDS IFT140 IFT172 IFT88 IGHM IGLL1 IL17RA IL2RG IL7R IMPDH1 IMPG2 IQSEC2 JAGN1 JMJD1C KCNAB2 KDM6A KIAA0753 KIAA1549 KIF1B KIF7 KIZ KLHL7 KMT2A KMT2D LBR LETM1 LIMK1 LIPN LONP1 LRAT LRBA LRP5 LRRC6 LRRC8A MAK MAP3K7 MASP1 MAX MDH2 MEOX1 MERTK MGP MLXIPL MS4A1 NAA10 NBN NCF1 NCF2 NCF4 NEK1 NEK2 NELFA NFIX NFKB1 NFKB2 NIPAL4 NIPBL NOG NOTCH2 NOTCH3 NR2E3 NRL NSD1 NSD2 NXN OCRL OFD1 OTOF PAX1 PCARE PCYT1A PDE6A PDE6B PDE6D PDE6G PEPD PGM3 PIGL PIK3R1 PLG PNP POLR1C POLR1D POMGNT1 POR PORCN POU3F4 PRCD PRDM16 PRDM5 PRKCD PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRRX1 PRTN3 PSMD12 PTPN22 PTPRC RAB23 RAD21 RAG1 RAG2 RAI1 RAP1A RAP1B RBP3 RDH12 RECQL4 REEP6 RERE RET RFC2 RGR RHO RLBP1 RNF168 RNU4ATAC ROM1 ROR2 RP1 RP2 RP9 RPE65 RPGR RPL11 RPS23 RPS26 RPS28 RREB1 RUNX2 SAG SALL4 SC5D SCAPER SDCCAG8 SDHA SDHAF2 SDHB SDHC SDHD SDR9C7 SEC24C SEMA3E SEMA4A SETBP1 SETD2 SETD5 SF3B4 SIX1 SIX5 SKI SLC25A24 SLC35C1 SLC7A14 SLITRK6 SMARCD2 SMC1A SMC3 SNRNP200 SNRPB SNX10 SOST SPAG1 SPATA7 SPECC1L SRCAP SRY STAC3 STAT3 SULT2B1 TAF1 TAP1 TAP2 TAPBP TBL2 TBX1 TBX22 TBX4 TCF3 TCIRG1 TCOF1 TCTN3 TFAP2A TGDS TGM1 TLK2 TMEM127 TMEM216 TMEM67 TNFRSF11A TNFRSF13B TNFRSF13C TNFSF11 TNFSF12 TOPORS TP63 TPP2 TRPS1 TSHZ1 TSR2 TTC8 TUB TULP1 TWIST1 TXNL4A UFD1 UNC119 USB1 USH2A VHL WAS WHCR WIPF1 ZBTB20 ZEB2 ZMYND10 ZNF408 ZNF469 ZNF513

Diseases (275) :742 722 2092 188400 1896 203800 300755 613807 618268 667 379 602450 606763 79113 52429 217622 616482 219000 312863 608971 251260 122470 117550 613179 601457 182290 420741 300455 618050 892 301000 313 791 607944 135100 277 2136 93 300614 33355 64 306542 136760 2780 300373 1522 261250 821 617808 615451 567 709 904 309800 33110 613502 617877 529962 47 307200 235510 615067 616037 613808 615504 1572 240500 613493 615617 615615 615607 613501 612692 616910 1997 615500 618063 610984 2990 265000 3450 166011 132450 156550 108300 2754 277170 194190 900 601390 819 270400 263750 246 613193 612518 614874 244400 612444 614017 217390 618027 615294 616331 616367 610536 3019 194050 207 502 2792 113650 166780 107 609053 615546 2462 615707 2791 3237 794 87 101200 123500 93262 100800 15 29072 1826 309350 311300 304120 503 150250 908 2052 1606 616726 190685 3226 2710 164200 304400 616835 252500 602471 1001 199 601492 608647 607594 309900 601495 613953 616022 2322 147920 300867 169400 280 600373 614700 607634 614935 3238 157800 617137 257920 214300 85202 245150 2751 561 293978 185800 184460 102500 2789 130720 1507 534 2750 608940 615816 280000 97231 861 248390 613717 201750 90354 202650 397 201000 1225 218600 616651 612562 617412 613309 1452 959 607330 615993 168000 616831 154400 605192 182212 2095 612289 266265 221200 617475 1393 117650 1513 615505 145410 2044 136140 1772 255995 2314 300966 604571 921 261279 616941 154500 2753 1297 113620 1388 602152 174810 1071 106260 129400 444463 607842 300946 608572 615518 604173 906 3042 235730 615444 391474 300990 123000 2332 1299 214800 215150 615706 602588 259775 149730 614557 272460 118100 218400 612290 186500 615560 305600 606164 798 166200 166220 609129 617898 601071
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.