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
  • Abnormality of cochlea
  • Abnormality of cochlea
  • Abnormality of the internal acoustic meatus
  • Abnormality of the internal acoustic meatus
  • Abnormality of the internal auditory canal
  • Abnormality of the middle ear ossicles
  • Absent auditory canals
  • Absent ear canal
  • Absent external auditory canals
  • Absent/small inner ear
  • Absent/small middle ear
  • Absent/underdeveloped inner ear
  • Absent/underdeveloped middle ear
  • Aplasia/Hypoplasia of the inner ear
  • Aplasia/Hypoplasia of the middle ear
  • Atresia of the external auditory canal
  • Atresia of the external auditory canals
  • Atretic auditory canal
  • Atretic auditory canals
  • Atretic external auditory canal
  • Atretic external auditory canals
  • Auditory canal atresia
  • Cholesteatoma
  • External acoustic meatus atresia
  • External auditory canal atresia
  • External auditory canal stenosis
  • External auditory meatal atresia
  • External auditory meatus atresia
  • Hypoplastic/aplastic middle ear structures
  • Malformed ossicles
  • Middle ear hypoplasia/aplasia
  • Morphological abnormality of the nerves of the inner ear
  • Morphological abnormality of the vestibule of the inner ear
  • Narrow auditory canals
  • Narrow ear canal
  • Narrow external auditory canals
  • Narrow external auditory meatus
  • Ossicular malformation
  • Persistent stapedial artery
  • Stenosis of the external auditory canal
  • Stenotic external auditory canal
  • Vestibular abnormality
  • abnormal Cotunnius canal morphology
  • abnormal Eustachian tube
  • abnormal acoustic vesicle development
  • abnormal acoustic vesicle formation
  • abnormal aqueduct of Cotunnius morphology
  • abnormal auditory bulla morphology
  • abnormal auditory bullae
  • abnormal auditory hair cell development
  • abnormal auditory pit morphology
  • abnormal auditory placode morphology
  • abnormal auditory tube
  • abnormal auditory vesicle development
  • abnormal auditory vesicle formation
  • abnormal bony labyrinth
  • abnormal bony labyrinth vestibule morphology
  • abnormal bulla morphology
  • abnormal bulla tympanica morphology
  • abnormal canal morphology
  • abnormal canals
  • abnormal cochlear hair cell development
  • abnormal cochlear window
  • abnormal drum membrane morphology
  • abnormal ear pigmentation
  • abnormal eardrum morphology
  • abnormal ectotympanic
  • abnormal external auditory canal morphology
  • abnormal external meatus
  • abnormal fenestra cochleae
  • abnormal fenestra of the cochlea
  • abnormal fenestra of the vestibule
  • abnormal fenestra ovalis
  • abnormal fenestra rotunda
  • abnormal fenestra vestibuli
  • abnormal hair cell morphology
  • abnormal hair cells
  • abnormal inner ear canal morphology
  • abnormal inner ear development
  • abnormal inner ear morphology
  • abnormal inner ear vestibule morphology
  • abnormal inner ear vestibulum morphology
  • abnormal labyrinthus osseus
  • abnormal membrana tympani morphology
  • abnormal membranous labyrinth morphology
  • abnormal middle ear cavity morphology
  • abnormal middle ear morphology
  • abnormal myringa morphology
  • abnormal myrinx morphology
  • abnormal osseous labyrinth
  • abnormal osseous labyrinth vestibule morphology
  • abnormal otic capsule morphology
  • abnormal otic pit morphology
  • abnormal otic placode morphology
  • abnormal otic vesicle development
  • abnormal otic vesicle formation
  • abnormal otocyst formation
  • abnormal oval window morphology
  • abnormal pars superior vestibularis morphology
  • abnormal periotic capsule morphology
  • abnormal pharyngotympanic tube
  • abnormal round window morphology
  • abnormal tympanic bulla morphology
  • abnormal tympanic cavity morphology
  • abnormal tympanic membrane morphology
  • abnormal tympanic ring morphology
  • abnormal vestibular aqueduct morphology
  • abnormal vestibular hair cell development
  • abnormal vestibular window
  • abnormal vestibule morphology
  • abnormal vestibule of bony labyrinth morphology
  • absent auditory bulla
  • absent auditory pit
  • absent external auditory canal
  • absent external meatus
  • absent otic cup
  • absent otic pit
  • auricular hypertrichosis
  • cystic inner ear
  • decreased ear pigmentation
  • decreased outer ear length
  • delayed ear elevation
  • delayed ear emergence
  • delayed ear extroversion
  • delayed inner ear development
  • ear closed contusion
  • ear hyperpigmentation
  • ear hypertrichosis
  • ear hypopigmentation
  • ear open abrasion
  • ear open avulsion
  • ear open incision
  • ear open laceration
  • ear open puncture
  • ear wound
  • early ear unfolding
  • excessive ear growth
  • external auditory canal atresia
  • external ear necrosis
  • floppy ears
  • hair cell dysplasia
  • hairy ears
  • hairy pinna
  • increased ear pigmentation
  • increased outer ear length
  • inner ear cysts
  • inner ear dysplasia
  • long ears
  • middle ear dysplasia
  • ossification of pinnae
  • outer ear necrosis
  • pale ear
  • pars superior vestibularis dysplasia
  • pinna necrosis
  • pinnae necrosis
  • reduced ear pigmentation
  • scaly ears
  • short ears
  • tympanic ring dysplasia
  • vestibular dysplasia
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Phenotype associations stats

0.41% of tested genes with null mutations on a B6N genetic background have a phenotype association to abnormal ear morphology (16/3893)

0.39% females (15/3878) 0.23% males (9/3882)

Gene variants with abnormal ear morphology

Total number of significant genotype-phenotype associations: 24

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
Gabpaem2Mbp
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 1.1E-23
Elmod1
Elmod1tm1b(EUCOMM)Hmgu
HOM Female Male postnatal abnormal ear morphology Combined SHIRPA and Dysmorphology | Ears MRC Harwell | IMPC 9.35E-20
D17Wsu92e
D17Wsu92eGt(IST12471H5)Tigm
HOM Female Male postnatal abnormal ear morphology Combined SHIRPA and Dysmorphology | Ears UC Davis | IMPC 1.94E-16
Marveld2
Marveld2tm1b(EUCOMM)Wtsi
HOM Female Male postnatal abnormal ear morphology Combined SHIRPA and Dysmorphology | Ears MRC Harwell | IMPC 2.95E-15
Col9a2
Col9a2tm1b(EUCOMM)Wtsi
HOM Female postnatal abnormal ear morphology Combined SHIRPA and Dysmorphology | Ears MRC Harwell | IMPC 1.6E-12
Cib2
Cib2tm1b(EUCOMM)Wtsi
HOM Female Male postnatal abnormal ear morphology Combined SHIRPA and Dysmorphology | Ears MRC Harwell | IMPC 1.12E-9
Mpzl2
Mpzl2tm1b(EUCOMM)Hmgu
HOM Female postnatal abnormal ear morphology Combined SHIRPA and Dysmorphology | Ears MRC Harwell | IMPC 5.92E-5

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