Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated genes and diseases:
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