EARS

London dysmorphology to Human Phenotype Ontology Mapping

External ears, general abnormalities

LDD IDNameHPO TermHPO IDComment
6.1.0External ears, general abnormalitiesAbnormality of the outer earHP:0000356-
6.1.1Absent earsAnotiaHP:0009892-
6.1.2Asymmetric ears---
6.1.3Calcification of ear cartilageCartilaginous ossification of pinnaeHP:0005103-
6.1.4Deficient ear cartilageHypoplastic helicesHP:0008589-
6.1.5Cystic ear pinna---
6.1.6Dysplastic earsDysplastic earsHP:0000398-
6.1.7Large earsLarge earsHP:0000400-
6.1.8Low-set earsLow-set earsHP:0000369-
6.1.9Posteriorly rotated earsPosteriorly rotated earsHP:0000358-
6.1.10Auricular pits/fistulasPreauricular sinusHP:0004467-
6.1.11Auricular tagsPreauricular skin tagHP:0000384-
6.1.12Prominent earsProminent earsHP:0000412-
6.1.13Rigid ears--What does this refer to?
6.1.14Simple earsSimple earsHP:0000390-
6.1.15Small ears/microtiaMicrotiaHP:0000393-
6.1.16Telangiectasia of earsTelangiectasias of the earsHP:0009893-
6.1.17Thickened earsThickened earsHP:0009894-

Anti-helix, general abnormalities

LDD IDNameHPO TermHPO IDComment
6.2.0Anti-helix, general abnormalitiesAbnormal antihelixHP:0009738-
6.2.1Abnormal anti-helixAbnormal antihelixHP:0009738-
6.2.2Prominent anti-helixProminent antihelixHP:0000395-

Anti-tragus, general abnormalities

LDD IDNameHPO TermHPO IDComment
6.3.0Anti-tragus, general abnormalitiesAbnormality of the antitragusHP:0009896-
6.3.1Abnormal anti-tragusAbnormality of the antitragusHP:0009896-

Auditory canal, general abnormalities

LDD IDNameHPO TermHPO IDComment
6.4.0Auditory canal, general abnormalitiesAuditory canal abnormalityHP:0000372-
6.4.1Absent auditory canalExternal auditory canal atresiaHP:0000413-
6.4.2Narrow/atretic auditory canalStenotic external auditory canalHP:0000402Note that these two LDDB categories overlap

Ear crus, general abnormalities

LDD IDNameHPO TermHPO IDComment
6.5.0Ear crus, general abnormalitiesAbnormality of the crus of the earHP:0009895-
6.5.1Horizontal ear crusHorizontal orientation of the ear crusHP:0009897-
6.5.2Small ear crusHypoplasia of the crus of the earHP:0009898-
6.5.3Prominent ear crusAbnormal prominence of the crus of the earHP:0009899-

Deafness, general abnormalities

LDD IDNameHPO TermHPO IDComment
6.6.0Deafness, general abnormalitiesDeafnessHP:0000404-
6.6.1Deafness, non-specificDeafnessHP:0000404-
6.6.2Deafness, conductiveConductive deafnessHP:0000367-
6.6.3Deafness, congenitalCongenital deafnessHP:0001728-
6.6.5Deafness, sensorineuralSensorineural deafnessHP:0000374-
6.6.6Deafness, unilateralDeafness, unilateralHP:0009900-

Ear helix, general abnormalities

LDD IDNameHPO TermHPO IDComment
6.7.0Ear helix, general abnormalitiesAbnormal helicesHP:0000380-
6.7.1Crumpled ear helixCrumpled ear helicesHP:0009901-
6.7.2Notched ear helixNotching of the ear helixHP:0009903-
6.7.3Over-folded ear helix, lop earXxxXXXThis LDD category comprises two different entities.Lop ears (HP:0000394) and Overfolded helices (HP:0000396)
6.7.4Pits of ear helixPits in posterior aspect of ear helicesHP:0008523-
6.7.5Prominent ear helixProminent ear helixHP:0009904-
6.7.6Thin ear helixThin ear helixHP:0009905-

Ear lobule, general abnormalities

LDD IDNameHPO TermHPO IDComment
6.8.0Ear lobule, general abnormalitiesAbnormality of ear lobesHP:0000363-
6.8.1Absent or hypoplastic ear lobuleAplasia/hypoplasia of the ear lobesHP:0009906-
6.8.2Attached ear lobuleAdherent ear lobeHP:0009907-
6.8.3Crease of ear lobuleEar lobe creaseHP:0009908-
6.8.4Large ear lobuleProminent ear lobesHP:0004456-
6.8.5Uplift of ear lobuleUplifted earlobesHP:0009909-

Mastoids, general abnormalities

LDD IDNameHPO TermHPO IDComment
6.9.0Mastoids, general abnormalitiesAbnormality of the mastoidHP:0000264-
6.9.1Advanced pneumatization of mastoids--What does this refer to? Ask Denise
6.9.2Under-development of mastoids--What does this refer to? Ask Denise

Middle ear, general abnormalities

LDD IDNameHPO TermHPO IDComment
6.10.0Middle ear, general abnormalitiesAbnormality of the middle earHP:0000370-
6.10.1Absent auditory ossiclesAplasia of the middle ear ossiclesHP:0009910-
6.10.2Abnormal auditory ossiclesAbnormality of the middle ear ossiclesHP:0004452-

Inner ear, general abnormalities

LDD IDNameHPO TermHPO IDComment
6.11.0Inner ear, general abnormalitiesAbnormality of the inner earHP:0000359-
6.11.1Temporal bone aplasia/dysplasiaAbnormality of the temporal boneHP:0009911Note: LDDB description encompasses two entities, therefore, a less general HPO term is used here.
6.11.2Cochlear/saccular abnormalitiesAbnormality of cochleaHP:0000375Note: LDDB description encompasses two entities, here just the HPO term for cochlea is used.
6.11.3Vestibular apparatus abnormalitiesVestibular dysfunctionHP:0001751-

Tragus, general abnormalities

LDD IDNameHPO TermHPO IDComment
6.12.0Tragus, general abnormalitiesAbnormality of the tragusHP:0009912-
6.12.1Tragus, hypoplastic or absentAplasia/hypoplasia of the tragusHP:0009913-