Phenotype: Abnormal auditory canal morphology (HP:0000372)
Associated genes and diseases:
gene_symbol: VPS37A
disease_id: ORPHA:319199
disease_name: Autosomal recessive spastic paraplegia type 53
SPG53
gene_symbol: SALL4
disease_id: ORPHA:233
disease_name: Duane retraction syndrome
DRS
DURS
Duane syndrome
Stilling-Turk-Duane syndrome
gene_symbol: MAFB
disease_id: ORPHA:233
disease_name: Duane retraction syndrome
DRS
DURS
Duane syndrome
Stilling-Turk-Duane syndrome
gene_symbol: CHN1
disease_id: ORPHA:233
disease_name: Duane retraction syndrome
DRS
DURS
Duane syndrome
Stilling-Turk-Duane syndrome
gene_symbol: PORCN
disease_id: OMIM:305600
disease_name: FOCAL DERMAL HYPOPLASIA
gene_symbol: FGFR2
disease_id: ORPHA:93260
disease_name: Pfeiffer syndrome type 3
gene_symbol: FGFR2
disease_id: OMIM:207410
disease_name: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS
gene_symbol: SF3B4
disease_id: OMIM:154400
disease_name: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE
gene_symbol: MED12
disease_id: OMIM:300895
disease_name: OHDO SYNDROME, X-LINKED
gene_symbol: MED12
disease_id: ORPHA:93932
disease_name: FG syndrome type 1
Opitz-Kaveggia syndrome
gene_symbol: ANAPC7
disease_id: OMIM:619699
disease_name: FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME
gene_symbol: EYA1
disease_id: OMIM:113650
disease_name: BRANCHIOOTORENAL SYNDROME 1
gene_symbol: EYA1
disease_id: ORPHA:107
disease_name: BOR syndrome
Branchiootorenal spectrum disorder
Branchiootorenal syndrome
Melnick-Fraser syndrome
gene_symbol: SIX1
disease_id: OMIM:113650
disease_name: BRANCHIOOTORENAL SYNDROME 1
gene_symbol: SIX1
disease_id: ORPHA:107
disease_name: BOR syndrome
Branchiootorenal spectrum disorder
Branchiootorenal syndrome
Melnick-Fraser syndrome
gene_symbol: B3GLCT
disease_id: OMIM:261540
disease_name: PETERS-PLUS SYNDROME
gene_symbol: TWIST2
disease_id: OMIM:209885
disease_name: BARBER-SAY SYNDROME
gene_symbol: EDNRA
disease_id: OMIM:616367
disease_name: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
gene_symbol: COL2A1
disease_id: ORPHA:93316
disease_name: Spondylometaphyseal dysplasia, Schmidt type
Spondylometaphyseal dysplasia with severe genu valgum
Spondylometaphyseal dysplasia, Algerian type
gene_symbol: PLCB4
disease_id: OMIM:614669
disease_name: AURICULOCONDYLAR SYNDROME 2
gene_symbol: RPL26
disease_id: OMIM:614900
disease_name: DIAMOND-BLACKFAN ANEMIA 11
gene_symbol: TP63
disease_id: OMIM:129400
disease_name: RAPP-HODGKIN SYNDROME
gene_symbol: SLC26A2
disease_id: ORPHA:628
disease_name: Diastrophic dysplasia
Diastrophic dwarfism
gene_symbol: HMX1
disease_id: OMIM:612109
disease_name: OCULOAURICULAR SYNDROME
gene_symbol: TBX15
disease_id: ORPHA:93333
disease_name: Pelviscapular dysplasia
Cousin syndrome
Familial pelvis-scapular dysplasia
gene_symbol: TBX15
disease_id: OMIM:260660
disease_name: COUSIN SYNDROME
gene_symbol: SIX5
disease_id: ORPHA:107
disease_name: BOR syndrome
Branchiootorenal spectrum disorder
Branchiootorenal syndrome
Melnick-Fraser syndrome
gene_symbol: POR
disease_id: ORPHA:95699
disease_name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital adrenal hyperplasia due to cytochrome POR deficiency
POR deficiency
PORD
gene_symbol: POR
disease_id: OMIM:207410
disease_name: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS
gene_symbol: SLC12A2
disease_id: OMIM:619080
disease_name: KILQUIST SYNDROME
gene_symbol: COL7A1
disease_id: ORPHA:79409
disease_name: Recessive dystrophic epidermolysis bullosa inversa
RDEB inversa
RDEB-I
gene_symbol: MAF
disease_id: ORPHA:1272
disease_name: Aymé-Gripp syndrome
Brachycephaly-deafness-cataract-intellectual disability syndrome
Brachycephaly-hearing loss-cataract-intellectual disability syndrome
Fine-Lubinsky syndrome
gene_symbol: HOXA2
disease_id: OMIM:612290
disease_name: MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE
gene_symbol: GPRASP2
disease_id: OMIM:301018
disease_name: DEAFNESS, X-LINKED 7
gene_symbol: GMNN
disease_id: OMIM:616835
disease_name: MEIER-GORLIN SYNDROME 6
gene_symbol: FAT4
disease_id: OMIM:615546
disease_name: VAN MALDERGEM SYNDROME 2
gene_symbol: WBP4
disease_id: OMIM:620852
disease_name: OMIM:620852
gene_symbol: EDN1
disease_id: OMIM:615706
disease_name: AURICULOCONDYLAR SYNDROME 3
gene_symbol: NSD2
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: CPLX1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: CTBP1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: FGFRL1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: LETM1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: COG1
disease_id: OMIM:611209
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg
gene_symbol: GNAI3
disease_id: OMIM:602483
disease_name: AURICULOCONDYLAR SYNDROME 1
gene_symbol: SOST
disease_id: ORPHA:1513
disease_name: Craniodiaphyseal dysplasia
gene_symbol: SP7
disease_id: ORPHA:1513
disease_name: Craniodiaphyseal dysplasia
gene_symbol: RPS28
disease_id: OMIM:606164
disease_name: DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS
gene_symbol: BRD4
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: SMC3
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: SMC1A
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: NIPBL
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: HDAC8
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: RAD21
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: GLI3
disease_id: ORPHA:672
disease_name: Pallister-Hall syndrome
Hypothalamic hamartoblastoma syndrome
gene_symbol: GLI3
disease_id: OMIM:146510
disease_name: PALLISTER-HALL SYNDROME
gene_symbol: TSHZ1
disease_id: OMIM:607842
disease_name: AURAL ATRESIA, CONGENITAL
gene_symbol: FREM2
disease_id: ORPHA:2052
disease_name: Fraser syndrome
Cryptophthalmos-syndactyly syndrome
gene_symbol: FREM2
disease_id: OMIM:617666
disease_name: FRASER SYNDROME 2
gene_symbol: FRAS1
disease_id: ORPHA:2052
disease_name: Fraser syndrome
Cryptophthalmos-syndactyly syndrome
gene_symbol: FRAS1
disease_id: OMIM:219000
disease_name: FRASER SYNDROME 1
gene_symbol: GRIP1
disease_id: ORPHA:2052
disease_name: Fraser syndrome
Cryptophthalmos-syndactyly syndrome
gene_symbol: RPL11
disease_id: OMIM:612562
disease_name: DIAMOND-BLACKFAN ANEMIA 7
gene_symbol: SF3B2
disease_id: OMIM:164210
disease_name: HEMIFACIAL MICROSOMIA
gene_symbol: KMT2D
disease_id: OMIM:620186
disease_name: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME
gene_symbol: ATP6V1B2
disease_id: ORPHA:79500
disease_name: DOORS syndrome
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive hearing loss-onychodystrophy syndrome
DOOR syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Deafness-onychoosteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Hearing loss-onychoosteodystrophy-intellectual disability syndrome
gene_symbol: TBC1D24
disease_id: ORPHA:79500
disease_name: DOORS syndrome
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive hearing loss-onychodystrophy syndrome
DOOR syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Deafness-onychoosteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Hearing loss-onychoosteodystrophy-intellectual disability syndrome
gene_symbol: GSC
disease_id: OMIM:602471
disease_name: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES
gene_symbol: POLR1B
disease_id: ORPHA:861
disease_name: Treacher-Collins syndrome
Franceschetti-Klein syndrome
Mandibulofacial dysostosis without limb anomalies
gene_symbol: POLR1C
disease_id: ORPHA:861
disease_name: Treacher-Collins syndrome
Franceschetti-Klein syndrome
Mandibulofacial dysostosis without limb anomalies
gene_symbol: POLR1D
disease_id: ORPHA:861
disease_name: Treacher-Collins syndrome
Franceschetti-Klein syndrome
Mandibulofacial dysostosis without limb anomalies
gene_symbol: TCOF1
disease_id: ORPHA:861
disease_name: Treacher-Collins syndrome
Franceschetti-Klein syndrome
Mandibulofacial dysostosis without limb anomalies
gene_symbol: TCOF1
disease_id: OMIM:154500
disease_name: TREACHER COLLINS SYNDROME 1
gene_symbol: SNRPB
disease_id: ORPHA:1393
disease_name: Cerebrocostomandibular syndrome
gene_symbol: FANCI
disease_id: OMIM:609053
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP I
gene_symbol: RPS26
disease_id: OMIM:613309
disease_name: DIAMOND-BLACKFAN ANEMIA 10
gene_symbol: POMT2
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: FKRP
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: FKTN
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: POMT1
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: LARGE1
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: STAG2
disease_id: OMIM:301022
disease_name: MULLEGAMA-KLEIN-MARTINEZ SYNDROME
gene_symbol: ORC1
disease_id: OMIM:224690
disease_name: MEIER-GORLIN SYNDROME 1
gene_symbol: ORC1
disease_id: ORPHA:2554
disease_name: Ear-patella-short stature syndrome
Meier-Gorlin syndrome
gene_symbol: PAX1
disease_id: ORPHA:2792
disease_name: Otofaciocervical syndrome
Fara-Chlupackova syndrome
OFC syndrome
gene_symbol: CDT1
disease_id: ORPHA:2554
disease_name: Ear-patella-short stature syndrome
Meier-Gorlin syndrome
gene_symbol: ORC4
disease_id: ORPHA:2554
disease_name: Ear-patella-short stature syndrome
Meier-Gorlin syndrome
gene_symbol: ORC6
disease_id: ORPHA:2554
disease_name: Ear-patella-short stature syndrome
Meier-Gorlin syndrome
gene_symbol: CDC45
disease_id: ORPHA:2554
disease_name: Ear-patella-short stature syndrome
Meier-Gorlin syndrome
gene_symbol: CDC6
disease_id: ORPHA:2554
disease_name: Ear-patella-short stature syndrome
Meier-Gorlin syndrome
gene_symbol: SMCHD1
disease_id: OMIM:603457
disease_name: BOSMA ARHINIA MICROPHTHALMIA SYNDROME
gene_symbol: TSR2
disease_id: OMIM:300946
disease_name: DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS
gene_symbol: DDR2
disease_id: OMIM:618175
disease_name: WARBURG-CINOTTI SYNDROME
gene_symbol: KIF15
disease_id: OMIM:619981
disease_name: BRADDOCK-CAREY SYNDROME 2
gene_symbol: NOTCH3
disease_id: ORPHA:2789
disease_name: Lateral meningocele syndrome
Lehman syndrome
gene_symbol: ERBB3
disease_id: OMIM:243180
disease_name: VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL RECESSIVE
gene_symbol: DCHS1
disease_id: OMIM:601390
disease_name: VAN MALDERGEM SYNDROME 1
gene_symbol: EFTUD2
disease_id: OMIM:610536
disease_name: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE
gene_symbol: EFTUD2
disease_id: ORPHA:79113
disease_name: Mandibulofacial dysostosis-microcephaly syndrome
MFDM syndrome
Mandibulofacial dysostosis, Guion-Almeida type
gene_symbol: CHRNG
disease_id: OMIM:265000
disease_name: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT
gene_symbol: IPO8
disease_id: OMIM:619472
disease_name: VISS SYNDROME
gene_symbol: AKT1
disease_id: ORPHA:744
disease_name: Proteus syndrome
Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
gene_symbol: MRTFA
disease_id: OMIM:618847
disease_name: IMMUNODEFICIENCY 66
gene_symbol: ADAM17
disease_id: OMIM:614328
disease_name: INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1
gene_symbol: ADAM17
disease_id: ORPHA:294023
disease_name: Neonatal inflammatory skin and bowel disease
gene_symbol: EGFR
disease_id: ORPHA:294023
disease_name: Neonatal inflammatory skin and bowel disease
gene_symbol: HGD
disease_id: ORPHA:56
disease_name: Alkaptonuria
Hereditary ochronosis
Homogentisic acid oxidase deficiency
gene_symbol: HGD
disease_id: OMIM:203500
disease_name: ALKAPTONURIA