Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the inner ear (HP:0000359)help
Parent Node:
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Morphological abnormality of the inner ear (HP:0011390)help
..Starting node
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Abnormal cochlea morphology (HP:0000375)help
Term ID: 375
Name: Abnormal cochlea morphology
Synonym: Abnormality of cochlea
Definition: An abnormality of the cochlea.
Comments:
Reference: HP:0000375
Genes and Diseases:
 
       Child Nodes:
........expandCochlear degeneration (HP:0005102) help
........expandCochlear malformation (HP:0008554) help
................... HP:0011373 Incomplete partition of the cochlea
........expandEnlarged cochlear aqueduct (HP:0011388) help
........expandAplasia/Hypoplasia of the cochlea (HP:0011395) help
................... HP:0008586 Hypoplasia of the cochlea
................... HP:0011375 Cochlear aplasia

 Sister Nodes: 
..expandAbnormal inner ear epithelium morphology (HP:3000002) help
..expandAbnormality of the internal auditory canal (HP:0011384) help
..expandAplasia/Hypoplasia of the inner ear (HP:0008774) help
..expandMorphological abnormality of the nerves of the inner ear (HP:0011391) help
..expandMorphological abnormality of the vestibule of the inner ear (HP:0011376) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000375HP:0000375Abnormal cochlea morphology0ARSG CL E G H2290124102ORPHA:231183Usher syndrome type 3HP:0040281 - Very frequent
HP:0000375HP:0000375Abnormal cochlea morphology0CDH23 CL E G H6407213733ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent636
HP:0000375HP:0000375Abnormal cochlea morphology0CEP78 CL E G H8413125740ORPHA:231183Usher syndrome type 3HP:0040281 - Very frequent9
HP:0000375HP:0000375Abnormal cochlea morphology0CIB2 CL E G H1051824579ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent15
HP:0000375HP:0000375Abnormal cochlea morphology0CLRN1 CL E G H740112605ORPHA:231183Usher syndrome type 3HP:0040281 - Very frequent60
HP:0000375HP:0000375Abnormal cochlea morphology0COCH CL E G H16902180OMIM:601369Deafness, autosomal dominant 946
HP:0000375HP:0000375Abnormal cochlea morphology0COL4A6 CL E G H12882208OMIM:300914Deafness, X-linked 618
HP:0000375HP:0000375Abnormal cochlea morphology0DDX11 CL E G H16632736OMIM:613398Warsaw breakage syndrome13
HP:0000375HP:0000375Abnormal cochlea morphology0ESPN CL E G H8371513281ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent33
HP:0000375HP:0000375Abnormal cochlea morphology0EYA1 CL E G H21383519ORPHA:107BOR syndrome135
HP:0000375HP:0000375Abnormal cochlea morphology0EYA1 CL E G H21383519OMIM:602588Branchiootic syndrome 1135
HP:0000375HP:0000375Abnormal cochlea morphology0EYA1 CL E G H21383519OMIM:113650Branchiootorenal syndrome 1135
HP:0000375HP:0000375Abnormal cochlea morphology0EYA1 CL E G H21383519OMIM:166780Otofaciocervical syndrome135
HP:0000375HP:0000375Abnormal cochlea morphology0FOXI1 CL E G H22993815ORPHA:705Pendred syndrome33
HP:0000375HP:0000375Abnormal cochlea morphology0FOXI1 CL E G H22993815OMIM:274600Pendred syndrome33
HP:0000375HP:0000375Abnormal cochlea morphology0GREB1L CL E G H8000031042OMIM:619274DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80
HP:0000375HP:0000375Abnormal cochlea morphology0HAAO CL E G H234984796OMIM:617660Vertebral, cardiac, renal, and limb defects syndrome 12
HP:0000375HP:0000375Abnormal cochlea morphology0HARS1 CL E G H30354816ORPHA:231183Usher syndrome type 3HP:0040281 - Very frequent
HP:0000375HP:0000375Abnormal cochlea morphology0KCNJ10 CL E G H37666256OMIM:274600Pendred syndrome121
HP:0000375HP:0000375Abnormal cochlea morphology0KCNJ10 CL E G H37666256ORPHA:705Pendred syndrome121
HP:0000375HP:0000375Abnormal cochlea morphology0MYO7A CL E G H46477606ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent516
HP:0000375HP:0000375Abnormal cochlea morphology0NDP CL E G H46937678ORPHA:649Norrie diseaseHP:0040282 - Frequent39
HP:0000375HP:0000375Abnormal cochlea morphology0ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 153
HP:0000375HP:0000375Abnormal cochlea morphology0PCDH15 CL E G H6521714674ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent352
HP:0000375HP:0000375Abnormal cochlea morphology0PEX6 CL E G H51908859ORPHA:95433Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome98
HP:0000375HP:0000375Abnormal cochlea morphology0POU3F4 CL E G H54569217ORPHA:1435Xq21 microdeletion syndromeHP:0040282 - Frequent40
HP:0000375HP:0000375Abnormal cochlea morphology0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040283 - Occasional143
HP:0000375HP:0000375Abnormal cochlea morphology0SIX1 CL E G H649510887ORPHA:107BOR syndrome50
HP:0000375HP:0000375Abnormal cochlea morphology0SIX1 CL E G H649510887OMIM:113650Branchiootorenal syndrome 150
HP:0000375HP:0000375Abnormal cochlea morphology0SIX5 CL E G H14791210891ORPHA:107BOR syndrome10
HP:0000375HP:0000375Abnormal cochlea morphology0SLC26A4 CL E G H51728818ORPHA:705Pendred syndrome274
HP:0000375HP:0000375Abnormal cochlea morphology0SLC26A4 CL E G H51728818OMIM:274600Pendred syndrome274
HP:0000375HP:0000375Abnormal cochlea morphology0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndrome138
HP:0000375HP:0000375Abnormal cochlea morphology0TIMM8A CL E G H167811817ORPHA:52368Mohr-Tranebjaerg syndromeHP:0040282 - Frequent15
HP:0000375HP:0000375Abnormal cochlea morphology0TRNS2 CL E G H45757498ORPHA:231183Usher syndrome type 3HP:0040281 - Very frequent
HP:0000375HP:0000375Abnormal cochlea morphology0USH1C CL E G H1008312597ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent173
HP:0000375HP:0000375Abnormal cochlea morphology0USH1G CL E G H12459016356ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent78
HP:0000375HP:0005102Cochlear degeneration1COCH CL E G H16902180OMIM:601369Deafness, autosomal dominant 9.46
HP:0000375HP:0008554Cochlear malformation1COL4A6 CL E G H12882208OMIM:300914Deafness, X-linked 6.18
HP:0000375HP:0011395Aplasia/Hypoplasia of the cochlea1DDX11 CL E G H16632736OMIM:613398Warsaw breakage syndrome13
HP:0000375HP:0011388Enlarged cochlear aqueduct1EYA1 CL E G H21383519ORPHA:107BOR syndromeHP:0040282 - Frequent135
HP:0000375HP:0011395Aplasia/Hypoplasia of the cochlea1EYA1 CL E G H21383519ORPHA:107BOR syndrome135
HP:0000375HP:0011395Aplasia/Hypoplasia of the cochlea1EYA1 CL E G H21383519OMIM:602588Branchiootic syndrome 1135
HP:0000375HP:0008554Cochlear malformation1EYA1 CL E G H21383519OMIM:602588Branchiootic syndrome 1.135
HP:0000375HP:0008554Cochlear malformation1EYA1 CL E G H21383519OMIM:113650Branchiootorenal syndrome 1135
HP:0000375HP:0011395Aplasia/Hypoplasia of the cochlea1EYA1 CL E G H21383519OMIM:113650Branchiootorenal syndrome 1135
HP:0000375HP:0011395Aplasia/Hypoplasia of the cochlea1EYA1 CL E G H21383519OMIM:166780Otofaciocervical syndrome135
HP:0000375HP:0008554Cochlear malformation1FOXI1 CL E G H22993815OMIM:274600Pendred syndrome.33
HP:0000375HP:0011395Aplasia/Hypoplasia of the cochlea1FOXI1 CL E G H22993815ORPHA:705Pendred syndrome33
HP:0000375HP:0011395Aplasia/Hypoplasia of the cochlea1GREB1L CL E G H8000031042OMIM:619274DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80
HP:0000375HP:0008554Cochlear malformation1HAAO CL E G H234984796OMIM:617660Vertebral, cardiac, renal, and limb defects syndrome 12
HP:0000375HP:0011395Aplasia/Hypoplasia of the cochlea1KCNJ10 CL E G H37666256ORPHA:705Pendred syndrome121
HP:0000375HP:0008554Cochlear malformation1KCNJ10 CL E G H37666256OMIM:274600Pendred syndrome.121
HP:0000375HP:0008554Cochlear malformation1ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 153
HP:0000375HP:0005102Cochlear degeneration1PEX6 CL E G H51908859ORPHA:95433Autosomal recessive spinocerebellar ataxia-blindness-deafness syndromeHP:0040282 - Frequent98
HP:0000375HP:0011395Aplasia/Hypoplasia of the cochlea1SIX1 CL E G H649510887ORPHA:107BOR syndrome50
HP:0000375HP:0011388Enlarged cochlear aqueduct1SIX1 CL E G H649510887ORPHA:107BOR syndromeHP:0040282 - Frequent50
HP:0000375HP:0008554Cochlear malformation1SIX1 CL E G H649510887OMIM:113650Branchiootorenal syndrome 150
HP:0000375HP:0011395Aplasia/Hypoplasia of the cochlea1SIX1 CL E G H649510887OMIM:113650Branchiootorenal syndrome 150
HP:0000375HP:0011388Enlarged cochlear aqueduct1SIX5 CL E G H14791210891ORPHA:107BOR syndromeHP:0040282 - Frequent10
HP:0000375HP:0011395Aplasia/Hypoplasia of the cochlea1SIX5 CL E G H14791210891ORPHA:107BOR syndrome10
HP:0000375HP:0008554Cochlear malformation1SLC26A4 CL E G H51728818OMIM:274600Pendred syndrome.274
HP:0000375HP:0011395Aplasia/Hypoplasia of the cochlea1SLC26A4 CL E G H51728818ORPHA:705Pendred syndrome274
HP:0000375HP:0008554Cochlear malformation1SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040284 - Very rare138
HP:0000375HP:0011373Incomplete partition of the cochlea2COL4A6 CL E G H12882208OMIM:300914Deafness, X-linked 618
HP:0000375HP:0008586Hypoplasia of the cochlea2DDX11 CL E G H16632736OMIM:613398Warsaw breakage syndrome.13
HP:0000375HP:0008586Hypoplasia of the cochlea2EYA1 CL E G H21383519ORPHA:107BOR syndromeHP:0040282 - Frequent135
HP:0000375HP:0008586Hypoplasia of the cochlea2EYA1 CL E G H21383519OMIM:602588Branchiootic syndrome 1.135
HP:0000375HP:0008586Hypoplasia of the cochlea2EYA1 CL E G H21383519OMIM:113650Branchiootorenal syndrome 1.135
HP:0000375HP:0011373Incomplete partition of the cochlea2EYA1 CL E G H21383519OMIM:113650Branchiootorenal syndrome 1135
HP:0000375HP:0008586Hypoplasia of the cochlea2EYA1 CL E G H21383519OMIM:166780Otofaciocervical syndrome135
HP:0000375HP:0008586Hypoplasia of the cochlea2FOXI1 CL E G H22993815ORPHA:705Pendred syndromeHP:0040281 - Very frequent33
HP:0000375HP:0011375Cochlear aplasia2GREB1L CL E G H8000031042OMIM:619274DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80
HP:0000375HP:0011373Incomplete partition of the cochlea2HAAO CL E G H234984796OMIM:617660Vertebral, cardiac, renal, and limb defects syndrome 12
HP:0000375HP:0008586Hypoplasia of the cochlea2KCNJ10 CL E G H37666256ORPHA:705Pendred syndromeHP:0040281 - Very frequent121
HP:0000375HP:0011373Incomplete partition of the cochlea2ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 153
HP:0000375HP:0008586Hypoplasia of the cochlea2SIX1 CL E G H649510887ORPHA:107BOR syndromeHP:0040282 - Frequent50
HP:0000375HP:0011373Incomplete partition of the cochlea2SIX1 CL E G H649510887OMIM:113650Branchiootorenal syndrome 150
HP:0000375HP:0008586Hypoplasia of the cochlea2SIX1 CL E G H649510887OMIM:113650Branchiootorenal syndrome 1.50
HP:0000375HP:0008586Hypoplasia of the cochlea2SIX5 CL E G H14791210891ORPHA:107BOR syndromeHP:0040282 - Frequent10
HP:0000375HP:0008586Hypoplasia of the cochlea2SLC26A4 CL E G H51728818ORPHA:705Pendred syndromeHP:0040281 - Very frequent274
HP:0000375HP:0011374Incomplete partition of the cochlea type I3 CL E G H
HP:0000375HP:0000376Incomplete partition of the cochlea type II3EYA1 CL E G H21383519OMIM:113650Branchiootorenal syndrome 1.135
HP:0000375HP:0000376Incomplete partition of the cochlea type II3HAAO CL E G H234984796OMIM:617660Vertebral, cardiac, renal, and limb defects syndrome 12
HP:0000375HP:0000376Incomplete partition of the cochlea type II3ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 1.53
HP:0000375HP:0000376Incomplete partition of the cochlea type II3SIX1 CL E G H649510887OMIM:113650Branchiootorenal syndrome 1.50


Genes (30) :ARSG CDH23 CEP78 CIB2 CLRN1 COCH COL4A6 DDX11 ESPN EYA1 FOXI1 GREB1L HAAO HARS1 KCNJ10 MYO7A NDP ORC1 PCDH15 PEX6 POU3F4 SETBP1 SIX1 SIX5 SLC26A4 SRCAP TIMM8A TRNS2 USH1C USH1G

Diseases (20) :ORPHA:231183 ORPHA:231169 OMIM:601369 OMIM:300914 OMIM:613398 ORPHA:107 OMIM:602588 OMIM:113650 OMIM:166780 ORPHA:705 OMIM:274600 OMIM:619274 OMIM:617660 ORPHA:649 OMIM:224690 ORPHA:95433 ORPHA:1435 ORPHA:798 ORPHA:2044 ORPHA:52368
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.