Phenotype: abnormal ear morphology

Definition any structural anomaly of any of the structures involved in the ear or vestibular system

Synonyms
  • abnormal ear development/ ear malformation
  • abnormal ear development/ ear malformation
  • ear dysplasia
  • ear dysplasia
  • ears: dysmorphology
  • auditory/ vestibular system abnormalities
  • abnormal auditory/ vestibular system morphology
  • auditory/ vestibular system defects
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Related
Synonyms
  • abnormal otolith organ morphology
  • abnormal otolith organ morphology
  • tympanic membrane perforation
  • tympanic membrane perforation
  • Abnormality of the malleus
  • Stenosis of the external auditory canal
  • Aplasia/Hypoplasia of the inner ear
  • outer ear hypoplasia
  • abnormal tympanic cavity muscle morphology
  • abnormal internal auditory canal morphology
  • abnormal semicircular canal morphology
  • abnormal tympanic cavity morphology
  • abnormal cochlear labyrinth morphology
  • Chondritis of pinna
  • abnormal cochlear hair cell morphology
  • abnormal cochlear hair cell development
  • Abnormal number of tubercles
  • inner ear hypoplasia
  • small otic capsule
  • Abnormality of the incus
  • absent inner ear vestibule
  • Abnormality of the cochlear nerve
  • ear open avulsion
  • Hypoplasia of the vestibule of the inner ear
  • Enlarged vestibular aqueduct
  • Microtia
  • abnormal inner ear vestibule morphology
  • Abnormal cochlea morphology
  • abnormal inner ear morphology
  • delayed inner ear development
  • Morphological abnormality of the semicircular canal
  • otosclerosis
  • Aplasia of the Eustachian tube
  • abnormal inner ear canal fusion
  • tympanic membrane perforation
  • synotia
  • Cystic lesions of the pinnae
  • Auricular tag
  • External ear malformation
  • absent oval window
  • abnormal ear pigmentation
  • Cholesteatoma
  • absent tympanic ring
  • abnormal semicircular canal morphology
  • Satyr ear
  • Blocked Eustachian tube
  • abnormal pars superior vestibularis morphology
  • cup-shaped ears
  • Question mark ear
  • Absent internal auditory canal
  • Abnormality of the helix
  • ossification of pinnae
  • Calcification of the auricular cartilage
  • absent oval window
  • abnormal otic capsule development
  • inner ear hypoplasia
  • ear open abrasion
  • abnormal semicircular canal morphology
  • Protruding ear
  • abnormal semicircular canal morphology
  • Morphological abnormality of the semicircular canal
  • abnormal otic capsule morphology
  • Abnormality of the cochlear nerve
  • abnormal vestibular hair cell development
  • ear closed contusion
  • absent inner ear vestibule
  • ear open puncture
  • Cryptotia
  • Aplasia/Hypoplasia of the cochlea
  • Atresia of the Eustachian tube
  • Abnormal number of tubercles
  • Short ear
  • Underdeveloped crus of the helix
  • Blocked Eustachian tube
  • Hypoplasia of the ear cartilage
  • Aplasia of the Eustachian tube
  • absent tympanic cavity
  • abnormal pars superior vestibularis morphology
  • Abnormality of the stapes
  • Abnormality of the antihelix
  • outer ear hypoplasia
  • Stenosis of the Eustachian tube
  • Abnormality of the middle ear ossicles
  • Aplasia/Hypoplasia of the inner ear
  • Aplasia/Hypoplasia of the middle ear
  • delayed inner ear development
  • abnormal vestibular hair cell morphology
  • absent inner ear vestibule
  • Morphological abnormality of the semicircular canal
  • absent tympanic cavity
  • abnormal outer ear cartilage morphology
  • hairy ears
  • inner ear cysts
  • absent external auditory canal
  • Microtia
  • abnormal membranous labyrinth morphology
  • ear open incision
  • absent tubotympanic recess
  • short ears
  • middle ear polyps
  • delayed inner ear development
  • abnormal round window morphology
  • Quelprud Nodule
  • abnormal semicircular canal morphology
  • Auricular tag
  • abnormal vestibular aqueduct morphology
  • abnormal tympanic ring morphology
  • abnormal otic capsule development
  • abnormal tympanic cavity muscle morphology
  • absent outer ear
  • Abnormality of the pinna
  • Abnormality of earlobe
  • Short ear
  • abnormal semicircular canal morphology
  • outer ear hypoplasia
  • Crumpled ear
  • absent otic pit
  • Aplasia of the vestibule
  • Atresia of the external auditory canal
  • abnormal otolith organ morphology
  • abnormal middle ear ossicle morphology
  • Enlarged cochlear aqueduct
  • abnormal auditory bulla morphology
  • Satyr ear
  • abnormal middle ear morphology
  • absent inner ear
  • Calcification of the auricular cartilage
  • Round ear
  • middle ear polyps
  • Abnormal vestibular saccule morphology
  • absent auditory tube
  • Dilated vestibule of the inner ear
  • scaly ears
  • Abnormality of the vestibular nerve
  • Lop ear
  • Atresia of the Eustachian tube
  • Atresia of the Eustachian tube
  • otic hypertelorism
  • anotia
  • ossification of pinnae
  • otosclerosis
  • abnormal vestibular hair cell development
  • abnormal auditory tube
  • abnormal external auditory canal morphology
  • middle ear effusion
  • abnormal middle ear ossicle morphology
  • abnormal vestibular hair cell morphology
  • ear open laceration
  • Cryptotia
  • abnormal vestibular dark cell morphology
  • Hypoplasia of the ear cartilage
  • abnormal tympanic membrane morphology
  • Enlarged vestibular aqueduct
  • abnormal inner ear development
  • Absent internal auditory canal
  • abnormal ear rotation
  • abnormal otic vesicle development
  • Aplasia/Hypoplasia of the cochlea
  • abnormal oval window morphology
  • inner ear cysts
  • abnormal tympanic membrane morphology
  • Asymmetry of the ears
  • Persistent stapedial artery
  • Aplasia/Hypoplasia of the cochlea
  • Microtia
  • abnormal vestibular aqueduct morphology
  • small round window
  • tympanic membrane retraction
  • Abnormality of the vestibular window
  • Abnormal cochlea morphology
  • abnormal otic capsule morphology
  • Morphological abnormality of the semicircular canal
  • abnormal inner ear vestibule morphology
  • Morphological abnormality of the nerves of the inner ear
  • abnormal otolith organ morphology
  • absent auditory tube
  • Abnormality of the tragus
  • big ears
  • decreased tympanic ring size
  • Enlarged vestibular aqueduct
  • Hypoplasia of the vestibule of the inner ear
  • abnormal vestibular hair cell development
  • Hypoplasia of the vestibule of the inner ear
  • Aplasia of the inner ear
  • Anotia
  • abnormal otic vesicle development
  • Abnormality of the antihelix
  • abnormal kinocilium morphology
  • Abnormal vestibular saccule morphology
  • Enlarged vestibular aqueduct
  • Hypoplasia of the vestibule of the inner ear
  • absent oval window
  • abnormal vestibular labyrinth morphology
  • Enlarged vestibular aqueduct
  • absent auditory tube
  • abnormal bony labyrinth
  • Dilated vestibule of the inner ear
  • abnormal kinocilium morphology
  • abnormal pinna cartilage morphology
  • increased otic epithelial cell apoptosis
  • Stenosis of the Eustachian tube
  • abnormal round window morphology
  • absent tympanic membrane
  • delayed ear emergence
  • ossification of pinnae
  • abnormal inner ear development
  • Otosclerosis
  • Abnormality of the vestibular window
  • Dilated vestibule of the inner ear
  • Abnormality of the internal auditory canal
  • Patent tuba eustachii
  • abnormal otolith organ morphology
  • excessive cerumen
  • absent oval window
  • Enlarged vestibular aqueduct
  • abnormal otic vesicle morphology
  • Morphological abnormality of the nerves of the inner ear
  • Enlarged cochlear aqueduct
  • Patent tuba eustachii
  • Round ear
  • Stenosis of the Eustachian tube
  • Short ear
  • small ears
  • raised ear position
  • small otic vesicle
  • Abnormality of the antitragus
  • abnormal vestibular dark cell morphology
  • Morphological abnormality of the semicircular canal
  • Crumpled ear
  • floppy ears
  • Cholesteatoma
  • abnormal hair cell morphology
  • abnormal cochlea morphology
  • Protruding ear
  • Abnormality of the stapes
  • abnormal Rosenthal canal morphology
  • Morphological abnormality of the vestibule of the inner ear
  • Persistent stapedial artery
  • absent auditory tube
  • abnormal ear shape
  • Dilated vestibule of the inner ear
  • abnormal cochlear hair cell development
  • abnormal auditory tube
  • absent inner ear
  • abnormal inner ear canal fusion
  • Morphological abnormality of the vestibule of the inner ear
  • small round window
  • abnormal otic vesicle development
  • Aplasia of the Eustachian tube
  • Auricular pit
  • abnormal cochlea morphology
  • abnormal membranous labyrinth morphology
  • Abnormality of earlobe
  • Quelprud Nodule
  • Abnormality of the vestibular nerve
  • abnormal otic vesicle development
  • Patent tuba eustachii
  • Stenosis of the Eustachian tube
  • Aplasia of the vestibule
  • abnormal otic pit morphology
  • abnormal vestibular hair cell morphology
  • Morphological abnormality of the semicircular canal
  • Protruding ear
  • Aplasia of the inner ear
  • big ears
  • Asymmetry of the ears
  • absent tympanic membrane
  • Abnormality of the helix
  • Morphological abnormality of the inner ear
  • abnormal cochlear hair cell morphology
  • Macrotia
  • abnormal vestibular hair cell morphology
  • abnormal epitympanic recess morphology
  • abnormal tubotympanic recess morphology
  • Aplasia of the Eustachian tube
  • abnormal vestibular labyrinth morphology
  • Abnormality of the tragus
  • small otic capsule
  • abnormal cochlear hair cell development
  • Morphological abnormality of the middle ear
  • absent auditory bulla
  • Mozart ear
  • Aplasia/Hypoplasia of the cochlea
  • abnormal otic placode morphology
  • cup-shaped ears
  • Abnormality of the Eustachian tube
  • outer ear necrosis
  • decreased tympanic ring size
  • Mozart ear
  • abnormal bony labyrinth
  • abnormal vestibular dark cell morphology
  • abnormal outer ear skin morphology
  • Cystic lesions of the pinnae
  • Cupped ear
  • abnormal hair cell morphology
  • abnormal tegmen tympani morphology
  • abnormal inner ear canal morphology
  • Macrotia
  • Calcification of the auricular cartilage
  • absent round window
  • Abnormality of the antitragus
  • absent inner ear vestibule
  • early ear unfolding
  • Abnormality of the Eustachian tube
  • decreased otic epithelial cell proliferation
  • absent tympanic ring
  • Lop ear
  • abnormal inner ear canal morphology
  • Blocked Eustachian tube
  • anotia
  • Atresia of the Eustachian tube
  • abnormal tubotympanic recess morphology
  • middle ear effusion
  • Aplasia/Hypoplasia of the middle ear
  • short ears
  • absent tubotympanic recess
  • abnormal oval window morphology
  • Otosclerosis
  • ear wound
  • Abnormality of the middle ear ossicles
  • Abnormality of the internal auditory canal
  • Blocked Eustachian tube
  • abnormal cochlear labyrinth morphology
  • Auricular pit
  • abnormal vestibular hair cell morphology
  • abnormal vestibular hair cell morphology
  • absent round window
  • abnormal ear position
  • abnormal tympanic ring morphology
  • abnormal tympanic cavity morphology
  • abnormal inner ear development
  • abnormal internal auditory canal morphology
  • excessive ear growth
  • Aplasia of the vestibule
  • Abnormal vestibular saccule morphology
  • Abnormality of the incus
  • abnormal ear development
  • abnormal epitympanic recess morphology
  • tympanic membrane retraction
  • absent otic vesicle
  • Cupped ear
  • abnormal outer ear morphology
  • short ears
  • Patent tuba eustachii
  • Aplasia of the vestibule
  • abnormal tegmen tympani morphology
  • abnormal vestibular dark cell morphology
  • Question mark ear
  • Abnormality of the malleus
  • Chondritis of pinna
  • Abnormal vestibular saccule morphology
  • abnormal Rosenthal canal morphology
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Phenotype associations stats

0.35% of tested genes with null mutations on a B6N genetic background have a phenotype association to abnormal ear morphology (15/4317)

0.30% females (13/4288) 0.21% males (9/4296)

Gene variants with abnormal ear morphology

Total number of significant genotype-phenotype associations: 22

Gene / Allele Zygosity Sex Life Stage Phenotype Procedure | Parameter Phenotyping Center | Source P Value Data
Alg10b
Alg10btm1.1(KOMP)Vlcg
HOM Female embryonic day 9.5 abnormal otic vesicle morphology Gross Morphology Embryo E9.5 | Otic vesicle morphology BCM | IMPC 0.0
Folr1
Folr1tm1.1(KOMP)Vlcg
HOM Female Male embryonic day 9.5 abnormal otic vesicle morphology Gross Morphology Embryo E9.5 | Otic vesicle morphology UC Davis | IMPC 0.0
Gabpa
Gabpaem2(IMPC)Mbp
HOM Male embryonic day 12.5 abnormal ear morphology Gross Morphology Embryo E12.5 | Ear Morphology UC Davis | IMPC 0.0
Kif1b
Kif1btm1b(KOMP)Wtsi
HOM Female Male embryonic day 18.5 abnormal outer ear morphology Gross Morphology Embryo E18.5 | Outer ear morpholgy JAX | IMPC 0.0
Krit1
Krit1tm1.1(KOMP)Vlcg
HOM Female Male embryonic day 9.5 abnormal otic vesicle morphology Gross Morphology Embryo E9.5 | Otic vesicle morphology UC Davis | IMPC 0.0
Nme7
Nme7tm2b(EUCOMM)Hmgu
HOM Female embryonic day 12.5 abnormal ear morphology Gross Morphology Embryo E12.5 | Ear Morphology BCM | IMPC 0.0
Trib1
Trib1tm1b(KOMP)Wtsi
HOM Female embryonic day 18.5 abnormal outer ear morphology Gross Morphology Embryo E18.5 | Outer ear morpholgy BCM | IMPC 0.0
Usf3
Usf3tm2b(EUCOMM)Wtsi
HOM Female embryonic day 18.5 abnormal outer ear morphology Gross Morphology Embryo E18.5 | Outer ear morpholgy BCM | IMPC 0.0
Wdr59
Wdr59tm1b(EUCOMM)Wtsi
HOM Female embryonic day 15.5 abnormal ear morphology Gross Morphology Embryo E14.5-E15.5 | Ear Morphology BCM | IMPC 0.0
Nptn
Nptntm1b(EUCOMM)Hmgu
HOM Female Male postnatal abnormal ear morphology Combined SHIRPA and Dysmorphology | Ears MRC Harwell | IMPC 5.7E-24
Elmod1
Elmod1tm1b(EUCOMM)Hmgu
HOM Female Male postnatal abnormal ear morphology Combined SHIRPA and Dysmorphology | Ears MRC Harwell | IMPC 5.22E-20
Marveld2
Marveld2tm1b(EUCOMM)Wtsi
HOM Female Male postnatal abnormal ear morphology Combined SHIRPA and Dysmorphology | Ears MRC Harwell | IMPC 1.9E-15
Eps8l2
Eps8l2tm1b(EUCOMM)Wtsi
HOM Male postnatal abnormal ear morphology Combined SHIRPA and Dysmorphology | Ears MRC Harwell | IMPC 1.61E-13
Col9a2
Col9a2tm1b(EUCOMM)Wtsi
HOM Female postnatal abnormal ear morphology Combined SHIRPA and Dysmorphology | Ears MRC Harwell | IMPC 1.11E-12
Cib2
Cib2tm1b(EUCOMM)Wtsi
HOM Female Male postnatal abnormal ear morphology Combined SHIRPA and Dysmorphology | Ears MRC Harwell | IMPC 8.6E-10

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