Human Phenotype Ontology 
Grandparent Node:
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Hearing abnormality (HP:0000364)help
Parent Node:
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Functional abnormality of the inner ear (HP:0011389)help
Parent Node:
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Hearing impairment (HP:0000365)help
..Starting node
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Sensorineural hearing impairment (HP:0000407)help
Term ID: 407
Name: Sensorineural hearing impairment
Synonym: Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss
Definition: A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Comments:
Reference: HP:0000407
Genes and Diseases:
 
       Child Nodes:
........expandProgressive sensorineural hearing impairment (HP:0000408) help
........expandMixed hearing impairment (HP:0000410) help
........expandHigh-frequency sensorineural hearing impairment (HP:0001757) help
........expandModerate sensorineural hearing impairment (HP:0008504) help
........expandCongenital sensorineural hearing impairment (HP:0008527) help
........expandLow-frequency sensorineural hearing impairment (HP:0008573) help
........expandMild neurosensory hearing impairment (HP:0008587) help
........expandAdult onset sensorineural hearing impairment (HP:0008615) help
........expandBilateral sensorineural hearing impairment (HP:0008619) help
........expandSevere sensorineural hearing impairment (HP:0008625) help
........expandChildhood onset sensorineural hearing impairment (HP:0011474) help
................... HP:0000399 Prelingual sensorineural hearing impairment
................... HP:0008596 Postlingual sensorineural hearing impairment
................... HP:0008610 Infantile sensorineural hearing impairment
........expandProfound sensorineural hearing impairment (HP:0011476) help
........expandOld-aged sensorineural hearing impairment (HP:0040113) help

 Sister Nodes: 
..expandAminoglycoside-induced hearing loss (HP:0011975) help
..expandConductive hearing impairment (HP:0000405) help
..expandHigh-frequency hearing impairment (HP:0005101) help
..expandLow-frequency hearing loss (HP:0008542) help
..expandMid-frequency hearing loss (HP:0012781) help
..expandMild hearing impairment (HP:0012712) help
..expandModerate hearing impairment (HP:0012713) help
..expandProfound hearing impairment (HP:0012715) help
..expandProgressive hearing impairment (HP:0001730) help
..expandSevere hearing impairment (HP:0012714) help
..expandTransient hearing impairment (HP:0012779) help
..expandUnilateral deafness (HP:0009900) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000407HP:0000407Sensorineural hearing impairment0AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM120601065
HP:0000407HP:0000407Sensorineural hearing impairment0ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1212834601691
HP:0000407HP:0000407Sensorineural hearing impairment0ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1253434601691
HP:0000407HP:0000407Sensorineural hearing impairment0ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM131415868613599
HP:0000407HP:0000407Sensorineural hearing impairment0ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM138915868613599
HP:0000407HP:0000407Sensorineural hearing impairment0ABHD5 CL E G H5109998907ORPHA117321396604780
HP:0000407HP:0000407Sensorineural hearing impairment0ABHD5 CL E G H5109998907ORPHA118421396604780
HP:0000407HP:0000407Sensorineural hearing impairment0ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM117321396604780
HP:0000407HP:0000407Sensorineural hearing impairment0ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM118421396604780
HP:0000407HP:0000407Sensorineural hearing impairment0ACOX1 CL E G H512971ORPHA1388119609751
HP:0000407HP:0000407Sensorineural hearing impairment0ACOX1 CL E G H512971ORPHA1435119609751
HP:0000407HP:0000407Sensorineural hearing impairment0ACTB CL E G H6079107ORPHA1322132102630
HP:0000407HP:0000407Sensorineural hearing impairment0ACTB CL E G H6079107ORPHA1349132102630
HP:0000407HP:0000407Sensorineural hearing impairment0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1322132102630
HP:0000407HP:0000407Sensorineural hearing impairment0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1349132102630
HP:0000407HP:0000407Sensorineural hearing impairment0ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM1322132102630
HP:0000407HP:0000407Sensorineural hearing impairment0ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM1349132102630
HP:0000407HP:0000407Sensorineural hearing impairment0ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1122171102576
HP:0000407HP:0000407Sensorineural hearing impairment0ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1141171102576
HP:0000407HP:0000407Sensorineural hearing impairment0ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM163177104620
HP:0000407HP:0000407Sensorineural hearing impairment0ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM178177104620
HP:0000407HP:0000407Sensorineural hearing impairment0ADGRV1 CL E G H84059231178ORPHA1245917416602851
HP:0000407HP:0000407Sensorineural hearing impairment0ADGRV1 CL E G H84059231178ORPHA1316817416602851
HP:0000407HP:0000407Sensorineural hearing impairment0AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA126526147615900
HP:0000407HP:0000407Sensorineural hearing impairment0AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137726147615900
HP:0000407HP:0000407Sensorineural hearing impairment0AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA165021575608894
HP:0000407HP:0000407Sensorineural hearing impairment0AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA182721575608894
HP:0000407HP:0000407Sensorineural hearing impairment0AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1204348600253
HP:0000407HP:0000407Sensorineural hearing impairment0AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1300348600253
HP:0000407HP:0000407Sensorineural hearing impairment0ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM130219358607144
HP:0000407HP:0000407Sensorineural hearing impairment0ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM139019358607144
HP:0000407HP:0000407Sensorineural hearing impairment0AMMECR1 CL E G H9949300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis300990C4310810OMIM1192467300195
HP:0000407HP:0000407Sensorineural hearing impairment0AMMECR1 CL E G H9949300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis300990C4310810OMIM1196467300195
HP:0000407HP:0000407Sensorineural hearing impairment0AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1216560300629
HP:0000407HP:0000407Sensorineural hearing impairment0AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1219560300629
HP:0000407HP:0000407Sensorineural hearing impairment0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM112520492616003
HP:0000407HP:0000407Sensorineural hearing impairment0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM112920492616003
HP:0000407HP:0000407Sensorineural hearing impairment0ARHGDIA CL E G H396615244Nephrotic syndrome, type 8615244C3808953OMIM141678601925
HP:0000407HP:0000407Sensorineural hearing impairment0ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137617090616432
HP:0000407HP:0000407Sensorineural hearing impairment0ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA151917090616432
HP:0000407HP:0000407Sensorineural hearing impairment0ARID1B CL E G H57492251056ORPHA186618040614556
HP:0000407HP:0000407Sensorineural hearing impairment0ARID1B CL E G H57492251056ORPHA195818040614556
HP:0000407HP:0000407Sensorineural hearing impairment0ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15117146615407
HP:0000407HP:0000407Sensorineural hearing impairment0ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17417146615407
HP:0000407HP:0000407Sensorineural hearing impairment0ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA164694604695
HP:0000407HP:0000407Sensorineural hearing impairment0ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA190694604695
HP:0000407HP:0000407Sensorineural hearing impairment0ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111313210608845
HP:0000407HP:0000407Sensorineural hearing impairment0ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA114313210608845
HP:0000407HP:0000407Sensorineural hearing impairment0ARSG CL E G H22901231183ORPHA117424102610008
HP:0000407HP:0000407Sensorineural hearing impairment0ARSG CL E G H22901231183ORPHA125024102610008
HP:0000407HP:0000407Sensorineural hearing impairment0ATP1A3 CL E G H4781171ORPHA1625801182350
HP:0000407HP:0000407Sensorineural hearing impairment0ATP1A3 CL E G H4781171ORPHA1687801182350
HP:0000407HP:0000407Sensorineural hearing impairment0ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1625801182350
HP:0000407HP:0000407Sensorineural hearing impairment0ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1687801182350
HP:0000407HP:0000407Sensorineural hearing impairment0ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1262868300197
HP:0000407HP:0000407Sensorineural hearing impairment0ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1291868300197
HP:0000407HP:0000407Sensorineural hearing impairment0ATP6V1B1 CL E G H525267300Renal tubular acidosis with progressive nerve deafness267300C0403554OMIM1318853192132
HP:0000407HP:0000407Sensorineural hearing impairment0ATP6V1B1 CL E G H525267300Renal tubular acidosis with progressive nerve deafness267300C0403554OMIM1355853192132
HP:0000407HP:0000407Sensorineural hearing impairment0ATP6V1B2 CL E G H526124480Deafness, congenital, with onychodystrophy, autosomal dominant124480C2675730OMIM1115854606939
HP:0000407HP:0000407Sensorineural hearing impairment0ATP6V1B2 CL E G H526124480Deafness, congenital, with onychodystrophy, autosomal dominant124480C2675730OMIM1118854606939
HP:0000407HP:0000407Sensorineural hearing impairment0ATP6V1B2 CL E G H526616455Zimmermann-Laband syndrome 2616455C4225321OMIM1115854606939
HP:0000407HP:0000407Sensorineural hearing impairment0ATP6V1B2 CL E G H526616455Zimmermann-Laband syndrome 2616455C4225321OMIM1118854606939
HP:0000407HP:0000407Sensorineural hearing impairment0ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11103886300032
HP:0000407HP:0000407Sensorineural hearing impairment0ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11217886300032
HP:0000407HP:0000407Sensorineural hearing impairment0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11103886300032
HP:0000407HP:0000407Sensorineural hearing impairment0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11217886300032
HP:0000407HP:0000407Sensorineural hearing impairment0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1191961605681
HP:0000407HP:0000407Sensorineural hearing impairment0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1192961605681
HP:0000407HP:0000407Sensorineural hearing impairment0BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1482967606151
HP:0000407HP:0000407Sensorineural hearing impairment0BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1585967606151
HP:0000407HP:0000407Sensorineural hearing impairment0BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM128216695300398
HP:0000407HP:0000407Sensorineural hearing impairment0BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM130116695300398
HP:0000407HP:0000407Sensorineural hearing impairment0BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM150220893300485
HP:0000407HP:0000407Sensorineural hearing impairment0BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM153620893300485
HP:0000407HP:0000407Sensorineural hearing impairment0BCS1L CL E G H617123ORPHA12491020603647
HP:0000407HP:0000407Sensorineural hearing impairment0BCS1L CL E G H617123ORPHA12791020603647
HP:0000407HP:0000407Sensorineural hearing impairment0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM12491020603647
HP:0000407HP:0000407Sensorineural hearing impairment0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM12791020603647
HP:0000407HP:0000407Sensorineural hearing impairment0BCS1L CL E G H617262000Pili torti-deafness syndrome262000C0266006OMIM12491020603647
HP:0000407HP:0000407Sensorineural hearing impairment0BCS1L CL E G H617262000Pili torti-deafness syndrome262000C0266006OMIM12791020603647
HP:0000407HP:0000407Sensorineural hearing impairment0BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149912703607854
HP:0000407HP:0000407Sensorineural hearing impairment0BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA159512703607854
HP:0000407HP:0000407Sensorineural hearing impairment0BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM16181097164757
HP:0000407HP:0000407Sensorineural hearing impairment0BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM16801097164757
HP:0000407HP:0000407Sensorineural hearing impairment0BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM16181097164757
HP:0000407HP:0000407Sensorineural hearing impairment0BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM16801097164757
HP:0000407HP:0000407Sensorineural hearing impairment0BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM119816512606412
HP:0000407HP:0000407Sensorineural hearing impairment0BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM120916512606412
HP:0000407HP:0000407Sensorineural hearing impairment0BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM13661122609019
HP:0000407HP:0000407Sensorineural hearing impairment0BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM14091122609019
HP:0000407HP:0000407Sensorineural hearing impairment0BTK CL E G H69547ORPHA15001133300300
HP:0000407HP:0000407Sensorineural hearing impairment0BTK CL E G H69547ORPHA15481133300300
HP:0000407HP:0000407Sensorineural hearing impairment0C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127232614477
HP:0000407HP:0000407Sensorineural hearing impairment0CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11421375114760
HP:0000407HP:0000407Sensorineural hearing impairment0CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11881375114760
HP:0000407HP:0000407Sensorineural hearing impairment0CASK CL E G H8573163937ORPHA15831497300172
HP:0000407HP:0000407Sensorineural hearing impairment0CASK CL E G H8573163937ORPHA16331497300172
HP:0000407HP:0000407Sensorineural hearing impairment0CATSPER2 CL E G H11715594064ORPHA110618810607249
HP:0000407HP:0000407Sensorineural hearing impairment0CATSPER2 CL E G H11715594064ORPHA111018810607249
HP:0000407HP:0000407Sensorineural hearing impairment0CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM134929426612753
HP:0000407HP:0000407Sensorineural hearing impairment0CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM141329426612753
HP:0000407HP:0000407Sensorineural hearing impairment0CCDC50 CL E G H152137607453Deafness, autosomal dominant 44607453C1843895OMIM118418111611051
HP:0000407HP:0000407Sensorineural hearing impairment0CCDC50 CL E G H152137607453Deafness, autosomal dominant 44607453C1843895OMIM119518111611051
HP:0000407HP:0000407Sensorineural hearing impairment0CD151 CL E G H977609057Nephropathy with pretibial epidermolysis bullosa and deafness609057C1836823OMIM1781630602243
HP:0000407HP:0000407Sensorineural hearing impairment0CD151 CL E G H977609057Nephropathy with pretibial epidermolysis bullosa and deafness609057C1836823OMIM1921630602243
HP:0000407HP:0000407Sensorineural hearing impairment0CD164 CL E G H8763616969Deafness, autosomal dominant 66616969C4283893OMIM1661632603356
HP:0000407HP:0000407Sensorineural hearing impairment0CD164 CL E G H8763616969Deafness, autosomal dominant 66616969C4283893OMIM1741632603356
HP:0000407HP:0000407Sensorineural hearing impairment0CDH23 CL E G H64072231169ORPHA1261213733605516
HP:0000407HP:0000407Sensorineural hearing impairment0CDH23 CL E G H64072231169ORPHA1307513733605516
HP:0000407HP:0000407Sensorineural hearing impairment0CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149614550609502
HP:0000407HP:0000407Sensorineural hearing impairment0CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA162314550609502
HP:0000407HP:0000407Sensorineural hearing impairment0CEP78 CL E G H84131231183ORPHA128525740617110
HP:0000407HP:0000407Sensorineural hearing impairment0CEP78 CL E G H84131231183ORPHA138925740617110
HP:0000407HP:0000407Sensorineural hearing impairment0CEP78 CL E G H84131617236Cone-rod dystrophy and hearing loss617236C4310657OMIM128525740617110
HP:0000407HP:0000407Sensorineural hearing impairment0CEP78 CL E G H84131617236Cone-rod dystrophy and hearing loss617236C4310657OMIM138925740617110
HP:0000407HP:0000407Sensorineural hearing impairment0CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA142721699608381
HP:0000407HP:0000407Sensorineural hearing impairment0CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA150221699608381
HP:0000407HP:0000407Sensorineural hearing impairment0CHD7 CL E G H55636612370Kallmann syndrome 5612370C2675302OMIM1175220626608892
HP:0000407HP:0000407Sensorineural hearing impairment0CHD7 CL E G H55636612370Kallmann syndrome 5612370C2675302OMIM1198020626608892
HP:0000407HP:0000407Sensorineural hearing impairment0CHN1 CL E G H1123233D ercole syndromeORPHA11161943118423
HP:0000407HP:0000407Sensorineural hearing impairment0CHN1 CL E G H1123233D ercole syndromeORPHA11171943118423
HP:0000407HP:0000407Sensorineural hearing impairment0CIB2 CL E G H10518231169ORPHA113724579605564
HP:0000407HP:0000407Sensorineural hearing impairment0CIB2 CL E G H10518231169ORPHA116324579605564
HP:0000407HP:0000407Sensorineural hearing impairment0CISD2 CL E G H4938563463ORPHA12624212611507
HP:0000407HP:0000407Sensorineural hearing impairment0CISD2 CL E G H4938563463ORPHA13824212611507
HP:0000407HP:0000407Sensorineural hearing impairment0CISD2 CL E G H493856604928Wolfram syndrome 2604928C1858028OMIM12624212611507
HP:0000407HP:0000407Sensorineural hearing impairment0CISD2 CL E G H493856604928Wolfram syndrome 2604928C1858028OMIM13824212611507
HP:0000407HP:0000407Sensorineural hearing impairment0CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM11862026602024
HP:0000407HP:0000407Sensorineural hearing impairment0CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM11872026602024
HP:0000407HP:0000407Sensorineural hearing impairment0CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM13042027602023
HP:0000407HP:0000407Sensorineural hearing impairment0CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM13382027602023
HP:0000407HP:0000407Sensorineural hearing impairment0CLDN14 CL E G H23562614035Deafness, autosomal recessive 29614035C3279660OMIM11572035605608
HP:0000407HP:0000407Sensorineural hearing impairment0CLDN14 CL E G H23562614035Deafness, autosomal recessive 29614035C3279660OMIM11682035605608
HP:0000407HP:0000407Sensorineural hearing impairment0CLIC5 CL E G H53405616042Deafness, autosomal recessive 103616042C4015050OMIM18513517607293
HP:0000407HP:0000407Sensorineural hearing impairment0CLIC5 CL E G H53405616042Deafness, autosomal recessive 103616042C4015050OMIM19813517607293
HP:0000407HP:0000407Sensorineural hearing impairment0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11762586603432
HP:0000407HP:0000407Sensorineural hearing impairment0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11772586603432
HP:0000407HP:0000407Sensorineural hearing impairment0CLRN1 CL E G H7401231183ORPHA124212605606397
HP:0000407HP:0000407Sensorineural hearing impairment0CLRN1 CL E G H7401231183ORPHA127212605606397
HP:0000407HP:0000407Sensorineural hearing impairment0CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA124212605606397
HP:0000407HP:0000407Sensorineural hearing impairment0CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127212605606397
HP:0000407HP:0000407Sensorineural hearing impairment0CLRN1 CL E G H7401276902Usher syndrome, type 3A276902C1568248OMIM124212605606397
HP:0000407HP:0000407Sensorineural hearing impairment0CLRN1 CL E G H7401276902Usher syndrome, type 3A276902C1568248OMIM127212605606397
HP:0000407HP:0000407Sensorineural hearing impairment0CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12432148123825
HP:0000407HP:0000407Sensorineural hearing impairment0CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13042148123825
HP:0000407HP:0000407Sensorineural hearing impairment0CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16422151600724
HP:0000407HP:0000407Sensorineural hearing impairment0CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17992151600724
HP:0000407HP:0000407Sensorineural hearing impairment0COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12725716615623
HP:0000407HP:0000407Sensorineural hearing impairment0COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13125716615623
HP:0000407HP:0000407Sensorineural hearing impairment0COCH CL E G H1690618094DEAFNESS, AUTOSOMAL RECESSIVE 110618094CN253427OMIM11842180603196
HP:0000407HP:0000407Sensorineural hearing impairment0COCH CL E G H1690618094DEAFNESS, AUTOSOMAL RECESSIVE 110618094CN253427OMIM11982180603196
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A1 CL E G H1301560ORPHA110282186120280
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A1 CL E G H1301560ORPHA113392186120280
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A1 CL E G H130190654ORPHA110282186120280
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A1 CL E G H130190654ORPHA113392186120280
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A1 CL E G H1301250984ORPHA110282186120280
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A1 CL E G H1301250984ORPHA113392186120280
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A1 CL E G H1301440354ORPHA110282186120280
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A1 CL E G H1301440354ORPHA113392186120280
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM110282186120280
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM113392186120280
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM110282186120280
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM113392186120280
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A2 CL E G H13021427ORPHA17052187120290
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A2 CL E G H13021427ORPHA19742187120290
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A2 CL E G H1302166100ORPHA17052187120290
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A2 CL E G H1302166100ORPHA19742187120290
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A2 CL E G H1302601868Deafness, autosomal dominant 13601868C1866095OMIM17052187120290
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A2 CL E G H1302601868Deafness, autosomal dominant 13601868C1866095OMIM19742187120290
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A2 CL E G H1302609706Deafness, autosomal recessive 53609706C1864746OMIM17052187120290
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A2 CL E G H1302609706Deafness, autosomal recessive 53609706C1864746OMIM19742187120290
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A2 CL E G H1302215150Otospondylomegaepiphyseal dysplasia215150C0432210OMIM17052187120290
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A2 CL E G H1302215150Otospondylomegaepiphyseal dysplasia215150C0432210OMIM19742187120290
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A2 CL E G H1302184840Stickler syndrome, type 3184840C1861481OMIM17052187120290
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A2 CL E G H1302184840Stickler syndrome, type 3184840C1861481OMIM19742187120290
HP:0000407HP:0000407Sensorineural hearing impairment0COL25A1 CL E G H84570233D ercole syndromeORPHA14318603610004
HP:0000407HP:0000407Sensorineural hearing impairment0COL25A1 CL E G H84570233D ercole syndromeORPHA14618603610004
HP:0000407HP:0000407Sensorineural hearing impairment0COL2A1 CL E G H128090653ORPHA112132200120140
HP:0000407HP:0000407Sensorineural hearing impairment0COL2A1 CL E G H128090653ORPHA115402200120140
HP:0000407HP:0000407Sensorineural hearing impairment0COL2A1 CL E G H1280271700Spondyloperipheral dysplasia271700C0796173OMIM112132200120140
HP:0000407HP:0000407Sensorineural hearing impairment0COL2A1 CL E G H1280271700Spondyloperipheral dysplasia271700C0796173OMIM115402200120140
HP:0000407HP:0000407Sensorineural hearing impairment0COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM112132200120140
HP:0000407HP:0000407Sensorineural hearing impairment0COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM115402200120140
HP:0000407HP:0000407Sensorineural hearing impairment0COL4A3 CL E G H1285104200Alport syndrome, autosomal dominant104200C1567743OMIM112032204120070
HP:0000407HP:0000407Sensorineural hearing impairment0COL4A3 CL E G H1285104200Alport syndrome, autosomal dominant104200C1567743OMIM113622204120070
HP:0000407HP:0000407Sensorineural hearing impairment0COL4A5 CL E G H1287301050Alport syndrome, X-linked recessive301050C1567742OMIM112872207303630
HP:0000407HP:0000407Sensorineural hearing impairment0COL4A5 CL E G H1287301050Alport syndrome, X-linked recessive301050C1567742OMIM114932207303630
HP:0000407HP:0000407Sensorineural hearing impairment0COL9A1 CL E G H1297250984ORPHA15942217120210
HP:0000407HP:0000407Sensorineural hearing impairment0COL9A1 CL E G H1297250984ORPHA17442217120210
HP:0000407HP:0000407Sensorineural hearing impairment0COL9A1 CL E G H1297614134Stickler syndrome, type 4614134C3279941OMIM15942217120210
HP:0000407HP:0000407Sensorineural hearing impairment0COL9A1 CL E G H1297614134Stickler syndrome, type 4614134C3279941OMIM17442217120210
HP:0000407HP:0000407Sensorineural hearing impairment0COL9A2 CL E G H1298250984ORPHA13362218120260
HP:0000407HP:0000407Sensorineural hearing impairment0COL9A2 CL E G H1298250984ORPHA14792218120260
HP:0000407HP:0000407Sensorineural hearing impairment0COL9A2 CL E G H1298614284Stickler syndrome, type 5614284C3280342OMIM13362218120260
HP:0000407HP:0000407Sensorineural hearing impairment0COL9A2 CL E G H1298614284Stickler syndrome, type 5614284C3280342OMIM14792218120260
HP:0000407HP:0000407Sensorineural hearing impairment0COL9A3 CL E G H1299250984ORPHA14642219120270
HP:0000407HP:0000407Sensorineural hearing impairment0COL9A3 CL E G H1299250984ORPHA17032219120270
HP:0000407HP:0000407Sensorineural hearing impairment0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM113725223609825
HP:0000407HP:0000407Sensorineural hearing impairment0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM117125223609825
HP:0000407HP:0000407Sensorineural hearing impairment0COQ6 CL E G H51004614650Coenzyme Q10 deficiency, primary, 6614650C3553349OMIM112420233614647
HP:0000407HP:0000407Sensorineural hearing impairment0COQ6 CL E G H51004614650Coenzyme Q10 deficiency, primary, 6614650C3553349OMIM115120233614647
HP:0000407HP:0000407Sensorineural hearing impairment0COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12472260602125
HP:0000407HP:0000407Sensorineural hearing impairment0COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12632260602125
HP:0000407HP:0000407Sensorineural hearing impairment0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12472260602125
HP:0000407HP:0000407Sensorineural hearing impairment0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12632260602125
HP:0000407HP:0000407Sensorineural hearing impairment0COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12428216614478
HP:0000407HP:0000407Sensorineural hearing impairment0COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12828216614478
HP:0000407HP:0000407Sensorineural hearing impairment0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12162263603646
HP:0000407HP:0000407Sensorineural hearing impairment0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12332263603646
HP:0000407HP:0000407Sensorineural hearing impairment0COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM113926970614698
HP:0000407HP:0000407Sensorineural hearing impairment0COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM115526970614698
HP:0000407HP:0000407Sensorineural hearing impairment0COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1442280124089
HP:0000407HP:0000407Sensorineural hearing impairment0COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1522280124089
HP:0000407HP:0000407Sensorineural hearing impairment0COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1182294123870
HP:0000407HP:0000407Sensorineural hearing impairment0CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18942343604210
HP:0000407HP:0000407Sensorineural hearing impairment0CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110852343604210
HP:0000407HP:0000407Sensorineural hearing impairment0CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13612383602225
HP:0000407HP:0000407Sensorineural hearing impairment0CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14192383602225
HP:0000407HP:0000407Sensorineural hearing impairment0CRYM CL E G H1428616357Deafness, autosomal dominant 40616357C4084708OMIM1882418123740
HP:0000407HP:0000407Sensorineural hearing impairment0CRYM CL E G H1428616357Deafness, autosomal dominant 40616357C4084708OMIM1942418123740
HP:0000407HP:0000407Sensorineural hearing impairment0DAB1 CL E G H1600363710ORPHA1802661603448
HP:0000407HP:0000407Sensorineural hearing impairment0DAB1 CL E G H1600363710ORPHA1812661603448
HP:0000407HP:0000407Sensorineural hearing impairment0DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM122925784612515
HP:0000407HP:0000407Sensorineural hearing impairment0DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM125125784612515
HP:0000407HP:0000407Sensorineural hearing impairment0DCDC2 CL E G H51473610212Deafness, autosomal recessive 66610212C1857750OMIM117218141605755
HP:0000407HP:0000407Sensorineural hearing impairment0DCDC2 CL E G H51473610212Deafness, autosomal recessive 66610212C1857750OMIM118718141605755
HP:0000407HP:0000407Sensorineural hearing impairment0DCHS1 CL E G H8642601390601390601390OMIM134713681603057
HP:0000407HP:0000407Sensorineural hearing impairment0DCHS1 CL E G H8642601390601390601390OMIM150213681603057
HP:0000407HP:0000407Sensorineural hearing impairment0DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11002718600811
HP:0000407HP:0000407Sensorineural hearing impairment0DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11062718600811
HP:0000407HP:0000407Sensorineural hearing impairment0DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM11402858601465
HP:0000407HP:0000407Sensorineural hearing impairment0DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM11562858601465
HP:0000407HP:0000407Sensorineural hearing impairment0DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA119920603608172
HP:0000407HP:0000407Sensorineural hearing impairment0DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA125620603608172
HP:0000407HP:0000407Sensorineural hearing impairment0DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA132817211605584
HP:0000407HP:0000407Sensorineural hearing impairment0DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147017211605584
HP:0000407HP:0000407Sensorineural hearing impairment0DIABLO CL E G H56616614152Deafness, autosomal dominant 64614152C3279948OMIM18921528605219
HP:0000407HP:0000407Sensorineural hearing impairment0DIABLO CL E G H56616614152Deafness, autosomal dominant 64614152C3279948OMIM19321528605219
HP:0000407HP:0000407Sensorineural hearing impairment0DIAPH1 CL E G H1729124900Deafness, autosomal dominant 1124900C1852282OMIM15542876602121
HP:0000407HP:0000407Sensorineural hearing impairment0DIAPH1 CL E G H1729124900Deafness, autosomal dominant 1124900C1852282OMIM17582876602121
HP:0000407HP:0000407Sensorineural hearing impairment0DIAPH3 CL E G H81624609129Auditory neuropathy, autosomal dominant, 1609129C1836743OMIM125515480614567
HP:0000407HP:0000407Sensorineural hearing impairment0DIAPH3 CL E G H81624609129Auditory neuropathy, autosomal dominant, 1609129C1836743OMIM129615480614567
HP:0000407HP:0000407Sensorineural hearing impairment0DLX5 CL E G H1749220600Split-hand/foot malformation 1 with sensorineural hearing loss220600C1857344OMIM1382918600028
HP:0000407HP:0000407Sensorineural hearing impairment0DLX5 CL E G H1749220600Split-hand/foot malformation 1 with sensorineural hearing loss220600C1857344OMIM1412918600028
HP:0000407HP:0000407Sensorineural hearing impairment0DMP1 CL E G H1758289176ORPHA11252932600980
HP:0000407HP:0000407Sensorineural hearing impairment0DMP1 CL E G H1758289176ORPHA11392932600980
HP:0000407HP:0000407Sensorineural hearing impairment0DMP1 CL E G H1758241520Autosomal recessive hypophosphatemic vitamin D refractory rickets241520C0342643OMIM11252932600980
HP:0000407HP:0000407Sensorineural hearing impairment0DMP1 CL E G H1758241520Autosomal recessive hypophosphatemic vitamin D refractory rickets241520C0342643OMIM11392932600980
HP:0000407HP:0000407Sensorineural hearing impairment0DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM1869439601184
HP:0000407HP:0000407Sensorineural hearing impairment0DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM1909439601184
HP:0000407HP:0000407Sensorineural hearing impairment0DNMT1 CL E G H1786314404ORPHA17492976126375
HP:0000407HP:0000407Sensorineural hearing impairment0DNMT1 CL E G H1786314404ORPHA18322976126375
HP:0000407HP:0000407Sensorineural hearing impairment0DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM17492976126375
HP:0000407HP:0000407Sensorineural hearing impairment0DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM18322976126375
HP:0000407HP:0000407Sensorineural hearing impairment0DNMT1 CL E G H1786614116Hereditary sensory neuropathy type IE614116C3279885OMIM17492976126375
HP:0000407HP:0000407Sensorineural hearing impairment0DNMT1 CL E G H1786614116Hereditary sensory neuropathy type IE614116C3279885OMIM18322976126375
HP:0000407HP:0000407Sensorineural hearing impairment0DUX4 CL E G H100288687269ORPHA150800606009
HP:0000407HP:0000407Sensorineural hearing impairment0EDN3 CL E G H1908613265Waardenburg syndrome type 4B613265C2750457OMIM11383178131242
HP:0000407HP:0000407Sensorineural hearing impairment0EDN3 CL E G H1908613265Waardenburg syndrome type 4B613265C2750457OMIM11493178131242
HP:0000407HP:0000407Sensorineural hearing impairment0EDNRB CL E G H1910895ORPHA12333180131244
HP:0000407HP:0000407Sensorineural hearing impairment0EDNRB CL E G H1910895ORPHA12583180131244
HP:0000407HP:0000407Sensorineural hearing impairment0EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM12333180131244
HP:0000407HP:0000407Sensorineural hearing impairment0EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM12583180131244
HP:0000407HP:0000407Sensorineural hearing impairment0EFNB1 CL E G H19471520ORPHA12013226300035
HP:0000407HP:0000407Sensorineural hearing impairment0EFNB1 CL E G H19471520ORPHA12103226300035
HP:0000407HP:0000407Sensorineural hearing impairment0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA16573327130160
HP:0000407HP:0000407Sensorineural hearing impairment0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA17043327130160
HP:0000407HP:0000407Sensorineural hearing impairment0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM16573327130160
HP:0000407HP:0000407Sensorineural hearing impairment0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM17043327130160
HP:0000407HP:0000407Sensorineural hearing impairment0ENPP1 CL E G H5167289176ORPHA13703356173335
HP:0000407HP:0000407Sensorineural hearing impairment0ENPP1 CL E G H5167289176ORPHA13863356173335
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC1 CL E G H20671466ORPHA11063433126380
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC1 CL E G H20671466ORPHA11103433126380
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC2 CL E G H20681466ORPHA13603434126340
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC2 CL E G H20681466ORPHA14793434126340
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA13603434126340
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA14793434126340
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM13603434126340
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM14793434126340
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA11863435133510
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA12833435133510
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM11863435133510
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM12833435133510
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA14693436133520
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA15383436133520
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC5 CL E G H20731466ORPHA13613437133530
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC5 CL E G H20731466ORPHA13743437133530
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA13613437133530
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA13743437133530
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC6 CL E G H20741466ORPHA18253438609413
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC6 CL E G H20741466ORPHA19463438609413
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM18253438609413
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM19463438609413
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM18253438609413
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM19463438609413
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM18253438609413
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM19463438609413
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM13103439609412
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM13433439609412
HP:0000407HP:0000407Sensorineural hearing impairment0ESPN CL E G H83715609006Deafness, autosomal recessive 36, with or without vestibular involvement609006C1837007OMIM126813281606351
HP:0000407HP:0000407Sensorineural hearing impairment0ESPN CL E G H83715609006Deafness, autosomal recessive 36, with or without vestibular involvement609006C1837007OMIM131113281606351
HP:0000407HP:0000407Sensorineural hearing impairment0ESRRB CL E G H2103608565Deafness, autosomal recessive 35608565C1837857OMIM11893473602167
HP:0000407HP:0000407Sensorineural hearing impairment0ESRRB CL E G H2103608565Deafness, autosomal recessive 35608565C1837857OMIM12053473602167
HP:0000407HP:0000407Sensorineural hearing impairment0EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM111517097602238
HP:0000407HP:0000407Sensorineural hearing impairment0EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM115717097602238
HP:0000407HP:0000407Sensorineural hearing impairment0EYA1 CL E G H213852429ORPHA13673519601653
HP:0000407HP:0000407Sensorineural hearing impairment0EYA1 CL E G H213852429ORPHA14043519601653
HP:0000407HP:0000407Sensorineural hearing impairment0EYA1 CL E G H2138602588Branchiootic syndrome602588C1865143OMIM13673519601653
HP:0000407HP:0000407Sensorineural hearing impairment0EYA1 CL E G H2138602588Branchiootic syndrome602588C1865143OMIM14043519601653
HP:0000407HP:0000407Sensorineural hearing impairment0EYA4 CL E G H2070601316Deafness, autosomal dominant 10601316C1832476OMIM14763522603550
HP:0000407HP:0000407Sensorineural hearing impairment0EYA4 CL E G H2070601316Deafness, autosomal dominant 10601316C1832476OMIM15623522603550
HP:0000407HP:0000407Sensorineural hearing impairment0EYA4 CL E G H2070605362Dilated cardiomyopathy 1J605362C1854368OMIM14763522603550
HP:0000407HP:0000407Sensorineural hearing impairment0EYA4 CL E G H2070605362Dilated cardiomyopathy 1J605362C1854368OMIM15623522603550
HP:0000407HP:0000407Sensorineural hearing impairment0EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1206021555612424
HP:0000407HP:0000407Sensorineural hearing impairment0EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1258921555612424
HP:0000407HP:0000407Sensorineural hearing impairment0FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA136225808613596
HP:0000407HP:0000407Sensorineural hearing impairment0FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA145625808613596
HP:0000407HP:0000407Sensorineural hearing impairment0FAS CL E G H3553437ORPHA122711920134637
HP:0000407HP:0000407Sensorineural hearing impairment0FAS CL E G H3553437ORPHA127511920134637
HP:0000407HP:0000407Sensorineural hearing impairment0FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM127029160612322
HP:0000407HP:0000407Sensorineural hearing impairment0FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM129429160612322
HP:0000407HP:0000407Sensorineural hearing impairment0FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM151923109612411
HP:0000407HP:0000407Sensorineural hearing impairment0FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM198923109612411
HP:0000407HP:0000407Sensorineural hearing impairment0FGF3 CL E G H224890024ORPHA1613681164950
HP:0000407HP:0000407Sensorineural hearing impairment0FGF3 CL E G H224890024ORPHA1723681164950
HP:0000407HP:0000407Sensorineural hearing impairment0FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM15303688136350
HP:0000407HP:0000407Sensorineural hearing impairment0FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM15973688136350
HP:0000407HP:0000407Sensorineural hearing impairment0FGFR3 CL E G H226153271ORPHA15413690134934
HP:0000407HP:0000407Sensorineural hearing impairment0FGFR3 CL E G H226153271ORPHA15423690134934
HP:0000407HP:0000407Sensorineural hearing impairment0FGFR3 CL E G H2261610474Camptodactyly, tall stature, and hearing loss syndrome610474C1864852OMIM15413690134934
HP:0000407HP:0000407Sensorineural hearing impairment0FGFR3 CL E G H2261610474Camptodactyly, tall stature, and hearing loss syndrome610474C1864852OMIM15423690134934
HP:0000407HP:0000407Sensorineural hearing impairment0FGFR3 CL E G H2261602849Muenke syndrome602849C1864436OMIM15413690134934
HP:0000407HP:0000407Sensorineural hearing impairment0FGFR3 CL E G H2261602849Muenke syndrome602849C1864436OMIM15423690134934
HP:0000407HP:0000407Sensorineural hearing impairment0FKBP14 CL E G H55033300179ORPHA111818625614505
HP:0000407HP:0000407Sensorineural hearing impairment0FKBP14 CL E G H55033300179ORPHA114418625614505
HP:0000407HP:0000407Sensorineural hearing impairment0FLNA CL E G H23161826Dexamethasone sensitive hypertensionORPHA118933754300017
HP:0000407HP:0000407Sensorineural hearing impairment0FLNA CL E G H23161826Dexamethasone sensitive hypertensionORPHA121303754300017
HP:0000407HP:0000407Sensorineural hearing impairment0FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM118933754300017
HP:0000407HP:0000407Sensorineural hearing impairment0FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM121303754300017
HP:0000407HP:0000407Sensorineural hearing impairment0FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM17863755603381
HP:0000407HP:0000407Sensorineural hearing impairment0FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM19883755603381
HP:0000407HP:0000407Sensorineural hearing impairment0FOXC1 CL E G H2296602482Axenfeld-Rieger syndrome type 3602482C2678503OMIM12533800601090
HP:0000407HP:0000407Sensorineural hearing impairment0FOXC1 CL E G H2296602482Axenfeld-Rieger syndrome type 3602482C2678503OMIM13283800601090
HP:0000407HP:0000407Sensorineural hearing impairment0FOXI1 CL E G H2299705ORPHA1933815601093
HP:0000407HP:0000407Sensorineural hearing impairment0FOXI1 CL E G H2299705ORPHA11053815601093
HP:0000407HP:0000407Sensorineural hearing impairment0FOXI1 CL E G H2299600791Enlarged vestibular aqueduct600791C1863752OMIM1933815601093
HP:0000407HP:0000407Sensorineural hearing impairment0FOXI1 CL E G H2299600791Enlarged vestibular aqueduct600791C1863752OMIM11053815601093
HP:0000407HP:0000407Sensorineural hearing impairment0FRG1 CL E G H2483269ORPHA11213954601278
HP:0000407HP:0000407Sensorineural hearing impairment0FRG1 CL E G H2483269ORPHA11233954601278
HP:0000407HP:0000407Sensorineural hearing impairment0FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM11213954601278
HP:0000407HP:0000407Sensorineural hearing impairment0FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM11233954601278
HP:0000407HP:0000407Sensorineural hearing impairment0FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12773960607643
HP:0000407HP:0000407Sensorineural hearing impairment0FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13863960607643
HP:0000407HP:0000407Sensorineural hearing impairment0FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM115224678610966
HP:0000407HP:0000407Sensorineural hearing impairment0FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM117724678610966
HP:0000407HP:0000407Sensorineural hearing impairment0GAB1 CL E G H2549605428Deafness, autosomal recessive 26605428C1854275OMIM1434066604439
HP:0000407HP:0000407Sensorineural hearing impairment0GAB1 CL E G H2549605428Deafness, autosomal recessive 26605428C1854275OMIM1444066604439
HP:0000407HP:0000407Sensorineural hearing impairment0GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11324116606953
HP:0000407HP:0000407Sensorineural hearing impairment0GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11414116606953
HP:0000407HP:0000407Sensorineural hearing impairment0GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA18494171137295
HP:0000407HP:0000407Sensorineural hearing impairment0GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA19884171137295
HP:0000407HP:0000407Sensorineural hearing impairment0GDF5 CL E G H82003250ORPHA11244220601146
HP:0000407HP:0000407Sensorineural hearing impairment0GDF5 CL E G H82003250ORPHA11494220601146
HP:0000407HP:0000407Sensorineural hearing impairment0GFER CL E G H2671613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay613076C2751320OMIM11104236600924
HP:0000407HP:0000407Sensorineural hearing impairment0GFER CL E G H2671613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay613076C2751320OMIM11224236600924
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H2706477ORPHA14604284121011
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H2706477ORPHA14824284121011
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H2706494ORPHA14604284121011
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H2706494ORPHA14824284121011
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H27062698ORPHA14604284121011
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H27062698ORPHA14824284121011
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H2706601544Deafness, autosomal dominant 3a601544C2675750OMIM14604284121011
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H2706601544Deafness, autosomal dominant 3a601544C2675750OMIM14824284121011
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H2706220290Deafness, autosomal recessive 1A220290C2673759OMIM14604284121011
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H2706220290Deafness, autosomal recessive 1A220290C2673759OMIM14824284121011
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H27062202Exostoses anetodermia brachydactyly type EORPHA14604284121011
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H27062202Exostoses anetodermia brachydactyly type EORPHA14824284121011
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H2706602540Hystrix-like ichthyosis with deafness602540C1865234OMIM14604284121011
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H2706602540Hystrix-like ichthyosis with deafness602540C1865234OMIM14824284121011
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H2706148210Keratitis-ichthyosis-deafness syndrome, autosomal dominant148210C1835678OMIM14604284121011
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H2706148210Keratitis-ichthyosis-deafness syndrome, autosomal dominant148210C1835678OMIM14824284121011
HP:0000407HP:0000407Sensorineural hearing impairment0GJB3 CL E G H2707220290Deafness, autosomal recessive 1A220290C2673759OMIM11454285603324
HP:0000407HP:0000407Sensorineural hearing impairment0GJB3 CL E G H2707220290Deafness, autosomal recessive 1A220290C2673759OMIM11564285603324
HP:0000407HP:0000407Sensorineural hearing impairment0GJB6 CL E G H10804477ORPHA12144288604418
HP:0000407HP:0000407Sensorineural hearing impairment0GJB6 CL E G H10804477ORPHA12234288604418
HP:0000407HP:0000407Sensorineural hearing impairment0GJB6 CL E G H10804220290Deafness, autosomal recessive 1A220290C2673759OMIM12144288604418
HP:0000407HP:0000407Sensorineural hearing impairment0GJB6 CL E G H10804220290Deafness, autosomal recessive 1A220290C2673759OMIM12234288604418
HP:0000407HP:0000407Sensorineural hearing impairment0GJC2 CL E G H57165320401ORPHA117417494608803
HP:0000407HP:0000407Sensorineural hearing impairment0GJC2 CL E G H57165320401ORPHA122117494608803
HP:0000407HP:0000407Sensorineural hearing impairment0GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM117417494608803
HP:0000407HP:0000407Sensorineural hearing impairment0GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM122117494608803
HP:0000407HP:0000407Sensorineural hearing impairment0GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM120322932615320
HP:0000407HP:0000407Sensorineural hearing impairment0GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM123422932615320
HP:0000407HP:0000407Sensorineural hearing impairment0GRHL2 CL E G H79977608641Deafness, autosomal dominant 28608641C1837640OMIM11722799608576
HP:0000407HP:0000407Sensorineural hearing impairment0GRHL2 CL E G H79977608641Deafness, autosomal dominant 28608641C1837640OMIM11802799608576
HP:0000407HP:0000407Sensorineural hearing impairment0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11594659601679
HP:0000407HP:0000407Sensorineural hearing impairment0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11604659601679
HP:0000407HP:0000407Sensorineural hearing impairment0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12114661604318
HP:0000407HP:0000407Sensorineural hearing impairment0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12134661604318
HP:0000407HP:0000407Sensorineural hearing impairment0GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11344679602275
HP:0000407HP:0000407Sensorineural hearing impairment0GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11654679602275
HP:0000407HP:0000407Sensorineural hearing impairment0GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM15934689600179
HP:0000407HP:0000407Sensorineural hearing impairment0GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM17314689600179
HP:0000407HP:0000407Sensorineural hearing impairment0HACE1 CL E G H57531464282ORPHA17621033610876
HP:0000407HP:0000407Sensorineural hearing impairment0HACE1 CL E G H57531464282ORPHA19121033610876
HP:0000407HP:0000407Sensorineural hearing impairment0HARS CL E G H3035231183ORPHA14816142810
HP:0000407HP:0000407Sensorineural hearing impairment0HARS2 CL E G H23438614926Perrault syndrome 2614926C3554105OMIM11084817600783
HP:0000407HP:0000407Sensorineural hearing impairment0HARS2 CL E G H23438614926Perrault syndrome 2614926C3554105OMIM11204817600783
HP:0000407HP:0000407Sensorineural hearing impairment0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA126913315300269
HP:0000407HP:0000407Sensorineural hearing impairment0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA128713315300269
HP:0000407HP:0000407Sensorineural hearing impairment0HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA159426527610453
HP:0000407HP:0000407Sensorineural hearing impairment0HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA169826527610453
HP:0000407HP:0000407Sensorineural hearing impairment0HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11125099142955
HP:0000407HP:0000407Sensorineural hearing impairment0HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11135099142955
HP:0000407HP:0000407Sensorineural hearing impairment0HOXA11 CL E G H3207605432Radioulnar synostosis with amegakaryocytic thrombocytopenia605432C1854273OMIM1475101142958
HP:0000407HP:0000407Sensorineural hearing impairment0HOXA11 CL E G H3207605432Radioulnar synostosis with amegakaryocytic thrombocytopenia605432C1854273OMIM1485101142958
HP:0000407HP:0000407Sensorineural hearing impairment0HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1315111142968
HP:0000407HP:0000407Sensorineural hearing impairment0HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12024800300256
HP:0000407HP:0000407Sensorineural hearing impairment0HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12134800300256
HP:0000407HP:0000407Sensorineural hearing impairment0HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM15605213601860
HP:0000407HP:0000407Sensorineural hearing impairment0HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM16395213601860
HP:0000407HP:0000407Sensorineural hearing impairment0IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM117729685612801
HP:0000407HP:0000407Sensorineural hearing impairment0IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM124629685612801
HP:0000407HP:0000407Sensorineural hearing impairment0IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11595385604526
HP:0000407HP:0000407Sensorineural hearing impairment0IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12025385604526
HP:0000407HP:0000407Sensorineural hearing impairment0IDUA CL E G H342593476ORPHA19715391252800
HP:0000407HP:0000407Sensorineural hearing impairment0IDUA CL E G H342593476ORPHA111145391252800
HP:0000407HP:0000407Sensorineural hearing impairment0IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA185129077614620
HP:0000407HP:0000407Sensorineural hearing impairment0IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1109829077614620
HP:0000407HP:0000407Sensorineural hearing impairment0IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158730391607386
HP:0000407HP:0000407Sensorineural hearing impairment0IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA180530391607386
HP:0000407HP:0000407Sensorineural hearing impairment0IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16120606600595
HP:0000407HP:0000407Sensorineural hearing impairment0IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110720606600595
HP:0000407HP:0000407Sensorineural hearing impairment0IGBP1 CL E G H347652055ORPHA11535461300139
HP:0000407HP:0000407Sensorineural hearing impairment0IGBP1 CL E G H347652055ORPHA11565461300139
HP:0000407HP:0000407Sensorineural hearing impairment0IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM11535461300139
HP:0000407HP:0000407Sensorineural hearing impairment0IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM11565461300139
HP:0000407HP:0000407Sensorineural hearing impairment0IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM11705464147440
HP:0000407HP:0000407Sensorineural hearing impairment0IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM11785464147440
HP:0000407HP:0000407Sensorineural hearing impairment0ILDR1 CL E G H286676609646Deafness, autosomal recessive 42609646C1864818OMIM114928741609739
HP:0000407HP:0000407Sensorineural hearing impairment0ILDR1 CL E G H286676609646Deafness, autosomal recessive 42609646C1864818OMIM116328741609739
HP:0000407HP:0000407Sensorineural hearing impairment0IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12836052146690
HP:0000407HP:0000407Sensorineural hearing impairment0IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13456052146690
HP:0000407HP:0000407Sensorineural hearing impairment0IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149818362607056
HP:0000407HP:0000407Sensorineural hearing impairment0IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA162618362607056
HP:0000407HP:0000407Sensorineural hearing impairment0IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM14914361606195
HP:0000407HP:0000407Sensorineural hearing impairment0KCNJ10 CL E G H3766705ORPHA12896256602208
HP:0000407HP:0000407Sensorineural hearing impairment0KCNJ10 CL E G H3766705ORPHA13196256602208
HP:0000407HP:0000407Sensorineural hearing impairment0KCNJ10 CL E G H3766199343ORPHA12896256602208
HP:0000407HP:0000407Sensorineural hearing impairment0KCNJ10 CL E G H3766199343ORPHA13196256602208
HP:0000407HP:0000407Sensorineural hearing impairment0KCNJ10 CL E G H3766600791Enlarged vestibular aqueduct600791C1863752OMIM12896256602208
HP:0000407HP:0000407Sensorineural hearing impairment0KCNJ10 CL E G H3766600791Enlarged vestibular aqueduct600791C1863752OMIM13196256602208
HP:0000407HP:0000407Sensorineural hearing impairment0KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM12896256602208
HP:0000407HP:0000407Sensorineural hearing impairment0KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13196256602208
HP:0000407HP:0000407Sensorineural hearing impairment0KDM6A CL E G H74032322ORPHA150212637300128
HP:0000407HP:0000407Sensorineural hearing impairment0KDM6A CL E G H74032322ORPHA156212637300128
HP:0000407HP:0000407Sensorineural hearing impairment0KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA160922219613344
HP:0000407HP:0000407Sensorineural hearing impairment0KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA183722219613344
HP:0000407HP:0000407Sensorineural hearing impairment0KITLG CL E G H4254895ORPHA1666343184745
HP:0000407HP:0000407Sensorineural hearing impairment0KITLG CL E G H4254895ORPHA1736343184745
HP:0000407HP:0000407Sensorineural hearing impairment0KITLG CL E G H4254616697Deafness, autosomal dominant 69616697C4225241OMIM1666343184745
HP:0000407HP:0000407Sensorineural hearing impairment0KITLG CL E G H4254616697Deafness, autosomal dominant 69616697C4225241OMIM1736343184745
HP:0000407HP:0000407Sensorineural hearing impairment0KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA118215865615757
HP:0000407HP:0000407Sensorineural hearing impairment0KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA126215865615757
HP:0000407HP:0000407Sensorineural hearing impairment0KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA117615646611119
HP:0000407HP:0000407Sensorineural hearing impairment0KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA121115646611119
HP:0000407HP:0000407Sensorineural hearing impairment0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA16737132159555
HP:0000407HP:0000407Sensorineural hearing impairment0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA19747132159555
HP:0000407HP:0000407Sensorineural hearing impairment0KMT2D CL E G H80852322ORPHA118287133602113
HP:0000407HP:0000407Sensorineural hearing impairment0KMT2D CL E G H80852322ORPHA123717133602113
HP:0000407HP:0000407Sensorineural hearing impairment0LHX3 CL E G H8022231720ORPHA12826595600577
HP:0000407HP:0000407Sensorineural hearing impairment0LHX3 CL E G H8022231720ORPHA13006595600577
HP:0000407HP:0000407Sensorineural hearing impairment0LHX3 CL E G H8022221750Pituitary hormone deficiency, combined 3221750C3489787OMIM12826595600577
HP:0000407HP:0000407Sensorineural hearing impairment0LHX3 CL E G H8022221750Pituitary hormone deficiency, combined 3221750C3489787OMIM13006595600577
HP:0000407HP:0000407Sensorineural hearing impairment0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA11966613601329
HP:0000407HP:0000407Sensorineural hearing impairment0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA11976613601329
HP:0000407HP:0000407Sensorineural hearing impairment0LMNA CL E G H4000740Aortic arch interruptionORPHA113476636150330
HP:0000407HP:0000407Sensorineural hearing impairment0LMNA CL E G H4000740Aortic arch interruptionORPHA114866636150330
HP:0000407HP:0000407Sensorineural hearing impairment0LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM13746654602575
HP:0000407HP:0000407Sensorineural hearing impairment0LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM14306654602575
HP:0000407HP:0000407Sensorineural hearing impairment0LONP1 CL E G H93611458ORPHA12219479605490
HP:0000407HP:0000407Sensorineural hearing impairment0LONP1 CL E G H93611458ORPHA13579479605490
HP:0000407HP:0000407Sensorineural hearing impairment0LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11826685604863
HP:0000407HP:0000407Sensorineural hearing impairment0LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12056685604863
HP:0000407HP:0000407Sensorineural hearing impairment0LRP2 CL E G H40362143Junctional epidermolysis bullosa inversaORPHA19666694600073
HP:0000407HP:0000407Sensorineural hearing impairment0LRP2 CL E G H40362143Junctional epidermolysis bullosa inversaORPHA116276694600073
HP:0000407HP:0000407Sensorineural hearing impairment0LRP4 CL E G H40383152Kuster syndromeORPHA15346696604270
HP:0000407HP:0000407Sensorineural hearing impairment0LRP4 CL E G H40383152Kuster syndromeORPHA16766696604270
HP:0000407HP:0000407Sensorineural hearing impairment0LRP5 CL E G H40413416Mathieu De Broca Bony syndromeORPHA18616697603506
HP:0000407HP:0000407Sensorineural hearing impairment0LRP5 CL E G H40413416Mathieu De Broca Bony syndromeORPHA111276697603506
HP:0000407HP:0000407Sensorineural hearing impairment0LRP5 CL E G H4041144750Worth disease144750C0432273OMIM18616697603506
HP:0000407HP:0000407Sensorineural hearing impairment0LRP5 CL E G H4041144750Worth disease144750C0432273OMIM111276697603506
HP:0000407HP:0000407Sensorineural hearing impairment0MAF CL E G H4094601088Ayme-gripp syndrome601088C1832812OMIM12476776177075
HP:0000407HP:0000407Sensorineural hearing impairment0MAF CL E G H4094601088Ayme-gripp syndrome601088C1832812OMIM12786776177075
HP:0000407HP:0000407Sensorineural hearing impairment0MAFB CL E G H9935233D ercole syndromeORPHA11056408608968
HP:0000407HP:0000407Sensorineural hearing impairment0MAFB CL E G H9935233D ercole syndromeORPHA11126408608968
HP:0000407HP:0000407Sensorineural hearing impairment0MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12436816154235
HP:0000407HP:0000407Sensorineural hearing impairment0MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13176816154235
HP:0000407HP:0000407Sensorineural hearing impairment0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM16536826609458
HP:0000407HP:0000407Sensorineural hearing impairment0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM17906826609458
HP:0000407HP:0000407Sensorineural hearing impairment0MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM13066840176872
HP:0000407HP:0000407Sensorineural hearing impairment0MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM13366840176872
HP:0000407HP:0000407Sensorineural hearing impairment0MAP3K20 CL E G H51776616890Split-foot malformation with mesoaxial polydactyly616890C4225167OMIM17617797609479
HP:0000407HP:0000407Sensorineural hearing impairment0MAP3K20 CL E G H51776616890Split-foot malformation with mesoaxial polydactyly616890C4225167OMIM116217797609479
HP:0000407HP:0000407Sensorineural hearing impairment0MAP3K7 CL E G H68851826Dexamethasone sensitive hypertensionORPHA11166859602614
HP:0000407HP:0000407Sensorineural hearing impairment0MAP3K7 CL E G H68851826Dexamethasone sensitive hypertensionORPHA11306859602614
HP:0000407HP:0000407Sensorineural hearing impairment0MBTPS2 CL E G H51360659AmyoplasiaORPHA123115455300294
HP:0000407HP:0000407Sensorineural hearing impairment0MBTPS2 CL E G H51360659AmyoplasiaORPHA124215455300294
HP:0000407HP:0000407Sensorineural hearing impairment0MED12 CL E G H9968305450FG syndrome305450C0220769OMIM194111957300188
HP:0000407HP:0000407Sensorineural hearing impairment0MED12 CL E G H9968305450FG syndrome305450C0220769OMIM1103411957300188
HP:0000407HP:0000407Sensorineural hearing impairment0MEOX1 CL E G H4222214300Klippel-Feil syndrome 2, autosomal recessive214300C1859209OMIM1427013600147
HP:0000407HP:0000407Sensorineural hearing impairment0MEOX1 CL E G H4222214300Klippel-Feil syndrome 2, autosomal recessive214300C1859209OMIM1687013600147
HP:0000407HP:0000407Sensorineural hearing impairment0MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14637027604705
HP:0000407HP:0000407Sensorineural hearing impairment0MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15747027604705
HP:0000407HP:0000407Sensorineural hearing impairment0MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11157045602616
HP:0000407HP:0000407Sensorineural hearing impairment0MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11197045602616
HP:0000407HP:0000407Sensorineural hearing impairment0MIR96 CL E G H407053613074Deafness, autosomal dominant 50613074C3888123OMIM13631648611606
HP:0000407HP:0000407Sensorineural hearing impairment0MIR96 CL E G H407053613074Deafness, autosomal dominant 50613074C3888123OMIM13931648611606
HP:0000407HP:0000407Sensorineural hearing impairment0MITF CL E G H4286895ORPHA13417105156845
HP:0000407HP:0000407Sensorineural hearing impairment0MITF CL E G H4286895ORPHA13497105156845
HP:0000407HP:0000407Sensorineural hearing impairment0MITF CL E G H4286103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM13417105156845
HP:0000407HP:0000407Sensorineural hearing impairment0MITF CL E G H4286103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM13497105156845
HP:0000407HP:0000407Sensorineural hearing impairment0MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM120012744605678
HP:0000407HP:0000407Sensorineural hearing impairment0MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM120112744605678
HP:0000407HP:0000407Sensorineural hearing impairment0MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM123924862601336
HP:0000407HP:0000407Sensorineural hearing impairment0MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM129924862601336
HP:0000407HP:0000407Sensorineural hearing impairment0MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM14937225159440
HP:0000407HP:0000407Sensorineural hearing impairment0MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM15227225159440
HP:0000407HP:0000407Sensorineural hearing impairment0MT-CO1 CL E G H4512550ORPHA17419516030
HP:0000407HP:0000407Sensorineural hearing impairment0MT-CO2 CL E G H4513550ORPHA17421516040
HP:0000407HP:0000407Sensorineural hearing impairment0MT-CO3 CL E G H4514550ORPHA17422516050
HP:0000407HP:0000407Sensorineural hearing impairment0MT-ND1 CL E G H4535550ORPHA17455516000
HP:0000407HP:0000407Sensorineural hearing impairment0MT-ND4 CL E G H4538550ORPHA17459516003
HP:0000407HP:0000407Sensorineural hearing impairment0MT-ND5 CL E G H4540550ORPHA17461516005
HP:0000407HP:0000407Sensorineural hearing impairment0MT-ND5 CL E G H4540551ORPHA17461516005
HP:0000407HP:0000407Sensorineural hearing impairment0MT-ND6 CL E G H4541550ORPHA17462516006
HP:0000407HP:0000407Sensorineural hearing impairment0MT-RNR1 CL E G H4549551ORPHA17470180450
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TE CL E G H4556225Radial ray agenesisORPHA17479590025
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TF CL E G H4558550ORPHA17481590070
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TF CL E G H4558551ORPHA17481590070
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TH CL E G H4564550ORPHA17487590040
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TH CL E G H4564551ORPHA17487590040
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TK CL E G H4566551ORPHA17489590060
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TK CL E G H4566225Radial ray agenesisORPHA17489590060
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TL1 CL E G H4567550ORPHA17490590050
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TL1 CL E G H4567551ORPHA17490590050
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TL1 CL E G H4567225Radial ray agenesisORPHA17490590050
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TP CL E G H4571551ORPHA17494590075
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TQ CL E G H4572550ORPHA17495590030
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TQ CL E G H4572551ORPHA17495590030
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TS1 CL E G H4574550ORPHA17497590080
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TS1 CL E G H4574551ORPHA17497590080
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TS1 CL E G H45742202Exostoses anetodermia brachydactyly type EORPHA17497590080
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TS2 CL E G H4575550ORPHA17498590085
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TS2 CL E G H4575551ORPHA17498590085
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TS2 CL E G H4575231183ORPHA17498590085
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TW CL E G H4578550ORPHA17501590095
HP:0000407HP:0000407Sensorineural hearing impairment0MYO7A CL E G H4647231169ORPHA122237606276903
HP:0000407HP:0000407Sensorineural hearing impairment0MYO7A CL E G H4647231169ORPHA125167606276903
HP:0000407HP:0000407Sensorineural hearing impairment0MYO7A CL E G H4647231178ORPHA122237606276903
HP:0000407HP:0000407Sensorineural hearing impairment0MYO7A CL E G H4647231178ORPHA125167606276903
HP:0000407HP:0000407Sensorineural hearing impairment0MYO7A CL E G H4647600060Deafness, autosomal recessive 2600060C1838701OMIM122237606276903
HP:0000407HP:0000407Sensorineural hearing impairment0MYO7A CL E G H4647600060Deafness, autosomal recessive 2600060C1838701OMIM125167606276903
HP:0000407HP:0000407Sensorineural hearing impairment0MYO7A CL E G H4647276900Usher syndrome, type 1276900C1568247OMIM122237606276903
HP:0000407HP:0000407Sensorineural hearing impairment0MYO7A CL E G H4647276900Usher syndrome, type 1276900C1568247OMIM125167606276903
HP:0000407HP:0000407Sensorineural hearing impairment0NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM11577631104170
HP:0000407HP:0000407Sensorineural hearing impairment0NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM11697631104170
HP:0000407HP:0000407Sensorineural hearing impairment0NDP CL E G H4693310600Atrophia bulborum hereditaria310600C0266526OMIM12457678300658
HP:0000407HP:0000407Sensorineural hearing impairment0NDP CL E G H4693310600Atrophia bulborum hereditaria310600C0266526OMIM12637678300658
HP:0000407HP:0000407Sensorineural hearing impairment0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM1977711602694
HP:0000407HP:0000407Sensorineural hearing impairment0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11017711602694
HP:0000407HP:0000407Sensorineural hearing impairment0NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1397745604043
HP:0000407HP:0000407Sensorineural hearing impairment0NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11047745604043
HP:0000407HP:0000407Sensorineural hearing impairment0NEU1 CL E G H4758812ORPHA11157758608272
HP:0000407HP:0000407Sensorineural hearing impairment0NEU1 CL E G H4758812ORPHA11347758608272
HP:0000407HP:0000407Sensorineural hearing impairment0NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11157758608272
HP:0000407HP:0000407Sensorineural hearing impairment0NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11347758608272
HP:0000407HP:0000407Sensorineural hearing impairment0NF2 CL E G H4771637ORPHA110167773607379
HP:0000407HP:0000407Sensorineural hearing impairment0NF2 CL E G H4771637ORPHA111677773607379
HP:0000407HP:0000407Sensorineural hearing impairment0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1100328862608667
HP:0000407HP:0000407Sensorineural hearing impairment0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1106928862608667
HP:0000407HP:0000407Sensorineural hearing impairment0NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1100328862608667
HP:0000407HP:0000407Sensorineural hearing impairment0NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1106928862608667
HP:0000407HP:0000407Sensorineural hearing impairment0NLRC4 CL E G H584841451ORPHA132116412606831
HP:0000407HP:0000407Sensorineural hearing impairment0NLRC4 CL E G H584841451ORPHA140916412606831
HP:0000407HP:0000407Sensorineural hearing impairment0NLRP12 CL E G H91662611762Familial cold autoinflammatory syndrome 2611762C2673198OMIM159722938609648
HP:0000407HP:0000407Sensorineural hearing impairment0NLRP12 CL E G H91662611762Familial cold autoinflammatory syndrome 2611762C2673198OMIM173322938609648
HP:0000407HP:0000407Sensorineural hearing impairment0NLRP3 CL E G H1145481451ORPHA160516400606416
HP:0000407HP:0000407Sensorineural hearing impairment0NLRP3 CL E G H1145481451ORPHA167616400606416
HP:0000407HP:0000407Sensorineural hearing impairment0NOG CL E G H92413250ORPHA1637866602991
HP:0000407HP:0000407Sensorineural hearing impairment0NOG CL E G H92413250ORPHA1827866602991
HP:0000407HP:0000407Sensorineural hearing impairment0NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13637974604485
HP:0000407HP:0000407Sensorineural hearing impairment0NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14227974604485
HP:0000407HP:0000407Sensorineural hearing impairment0NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM12127989164790
HP:0000407HP:0000407Sensorineural hearing impairment0NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM12267989164790
HP:0000407HP:0000407Sensorineural hearing impairment0NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11648002162080
HP:0000407HP:0000407Sensorineural hearing impairment0NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12178002162080
HP:0000407HP:0000407Sensorineural hearing impairment0OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16472567300170
HP:0000407HP:0000407Sensorineural hearing impairment0OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17232567300170
HP:0000407HP:0000407Sensorineural hearing impairment0OPA1 CL E G H49761215Cerebro reno digital syndromeORPHA15988140605290
HP:0000407HP:0000407Sensorineural hearing impairment0OPA1 CL E G H49761215Cerebro reno digital syndromeORPHA17398140605290
HP:0000407HP:0000407Sensorineural hearing impairment0OPA1 CL E G H4976616896Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)616896C4225163OMIM15988140605290
HP:0000407HP:0000407Sensorineural hearing impairment0OPA1 CL E G H4976616896Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)616896C4225163OMIM17398140605290
HP:0000407HP:0000407Sensorineural hearing impairment0OSBPL2 CL E G H9885616340Deafness, autosomal dominant 67616340C4084712OMIM114315761606731
HP:0000407HP:0000407Sensorineural hearing impairment0OSBPL2 CL E G H9885616340Deafness, autosomal dominant 67616340C4084712OMIM115115761606731
HP:0000407HP:0000407Sensorineural hearing impairment0OTOA CL E G H146183607039Deafness, autosomal recessive 22607039C1846896OMIM132116378607038
HP:0000407HP:0000407Sensorineural hearing impairment0OTOA CL E G H146183607039Deafness, autosomal recessive 22607039C1846896OMIM136116378607038
HP:0000407HP:0000407Sensorineural hearing impairment0OTOF CL E G H9381601071Deafness, autosomal recessive 9601071C1832828OMIM17798515603681
HP:0000407HP:0000407Sensorineural hearing impairment0OTOF CL E G H9381601071Deafness, autosomal recessive 9601071C1832828OMIM18638515603681
HP:0000407HP:0000407Sensorineural hearing impairment0PAX2 CL E G H5076120330Renal coloboma syndrome120330C1852759OMIM11948616167409
HP:0000407HP:0000407Sensorineural hearing impairment0PAX2 CL E G H5076120330Renal coloboma syndrome120330C1852759OMIM12508616167409
HP:0000407HP:0000407Sensorineural hearing impairment0PAX3 CL E G H50771529ORPHA12568617606597
HP:0000407HP:0000407Sensorineural hearing impairment0PAX3 CL E G H50771529ORPHA12768617606597
HP:0000407HP:0000407Sensorineural hearing impairment0PAX3 CL E G H5077122880Craniofacial deafness hand syndrome122880C1852510OMIM12568617606597
HP:0000407HP:0000407Sensorineural hearing impairment0PAX3 CL E G H5077122880Craniofacial deafness hand syndrome122880C1852510OMIM12768617606597
HP:0000407HP:0000407Sensorineural hearing impairment0PAX3 CL E G H5077148820Klein-Waardenberg's syndrome148820C0342680OMIM12568617606597
HP:0000407HP:0000407Sensorineural hearing impairment0PAX3 CL E G H5077148820Klein-Waardenberg's syndrome148820C0342680OMIM12768617606597
HP:0000407HP:0000407Sensorineural hearing impairment0PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA160334383613425
HP:0000407HP:0000407Sensorineural hearing impairment0PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA177534383613425
HP:0000407HP:0000407Sensorineural hearing impairment0PCDH15 CL E G H65217231169ORPHA1170914674605514
HP:0000407HP:0000407Sensorineural hearing impairment0PCDH15 CL E G H65217231169ORPHA1198514674605514
HP:0000407HP:0000407Sensorineural hearing impairment0PCDH15 CL E G H65217609533Deafness, autosomal recessive 23609533C1836027OMIM1170914674605514
HP:0000407HP:0000407Sensorineural hearing impairment0PCDH15 CL E G H65217609533Deafness, autosomal recessive 23609533C1836027OMIM1198514674605514
HP:0000407HP:0000407Sensorineural hearing impairment0PCNT CL E G H51162637HemimegalencephalyORPHA1112616068605925
HP:0000407HP:0000407Sensorineural hearing impairment0PCNT CL E G H51162637HemimegalencephalyORPHA1136116068605925
HP:0000407HP:0000407Sensorineural hearing impairment0PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14968785180071
HP:0000407HP:0000407Sensorineural hearing impairment0PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16088785180071
HP:0000407HP:0000407Sensorineural hearing impairment0PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16988786180072
HP:0000407HP:0000407Sensorineural hearing impairment0PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18498786180072
HP:0000407HP:0000407Sensorineural hearing impairment0PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1708789180073
HP:0000407HP:0000407Sensorineural hearing impairment0PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1818789180073
HP:0000407HP:0000407Sensorineural hearing impairment0PDGFRB CL E G H5159601812Premature aging syndrome, Penttinen type601812C1866182OMIM12838804173410
HP:0000407HP:0000407Sensorineural hearing impairment0PDGFRB CL E G H5159601812Premature aging syndrome, Penttinen type601812C1866182OMIM13048804173410
HP:0000407HP:0000407Sensorineural hearing impairment0PDZD7 CL E G H79955231178ORPHA143326257612971
HP:0000407HP:0000407Sensorineural hearing impairment0PDZD7 CL E G H79955231178ORPHA160726257612971
HP:0000407HP:0000407Sensorineural hearing impairment0PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM14340038614770
HP:0000407HP:0000407Sensorineural hearing impairment0PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15140038614770
HP:0000407HP:0000407Sensorineural hearing impairment0PEX1 CL E G H5189772ORPHA17938850602136
HP:0000407HP:0000407Sensorineural hearing impairment0PEX1 CL E G H5189772ORPHA19518850602136
HP:0000407HP:0000407Sensorineural hearing impairment0PEX1 CL E G H5189912ORPHA17938850602136
HP:0000407HP:0000407Sensorineural hearing impairment0PEX1 CL E G H5189912ORPHA19518850602136
HP:0000407HP:0000407Sensorineural hearing impairment0PEX1 CL E G H51893220ORPHA17938850602136
HP:0000407HP:0000407Sensorineural hearing impairment0PEX1 CL E G H51893220ORPHA19518850602136
HP:0000407HP:0000407Sensorineural hearing impairment0PEX1 CL E G H5189234580Deafness enamel hypoplasia nail defects234580C1856186OMIM17938850602136
HP:0000407HP:0000407Sensorineural hearing impairment0PEX1 CL E G H5189234580Deafness enamel hypoplasia nail defects234580C1856186OMIM19518850602136
HP:0000407HP:0000407Sensorineural hearing impairment0PEX1 CL E G H518944MYBPC1-related conditionORPHA17938850602136
HP:0000407HP:0000407Sensorineural hearing impairment0PEX1 CL E G H518944MYBPC1-related conditionORPHA19518850602136
HP:0000407HP:0000407Sensorineural hearing impairment0PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM17938850602136
HP:0000407HP:0000407Sensorineural hearing impairment0PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM19518850602136
HP:0000407HP:0000407Sensorineural hearing impairment0PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM17938850602136
HP:0000407HP:0000407Sensorineural hearing impairment0PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM19518850602136
HP:0000407HP:0000407Sensorineural hearing impairment0PEX10 CL E G H5192772ORPHA14808851602859
HP:0000407HP:0000407Sensorineural hearing impairment0PEX10 CL E G H5192772ORPHA15788851602859
HP:0000407HP:0000407Sensorineural hearing impairment0PEX10 CL E G H5192912ORPHA14808851602859
HP:0000407HP:0000407Sensorineural hearing impairment0PEX10 CL E G H5192912ORPHA15788851602859
HP:0000407HP:0000407Sensorineural hearing impairment0PEX10 CL E G H519244MYBPC1-related conditionORPHA14808851602859
HP:0000407HP:0000407Sensorineural hearing impairment0PEX10 CL E G H519244MYBPC1-related conditionORPHA15788851602859
HP:0000407HP:0000407Sensorineural hearing impairment0PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM14808851602859
HP:0000407HP:0000407Sensorineural hearing impairment0PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM15788851602859
HP:0000407HP:0000407Sensorineural hearing impairment0PEX11B CL E G H8799772ORPHA12848853603867
HP:0000407HP:0000407Sensorineural hearing impairment0PEX11B CL E G H8799772ORPHA13328853603867
HP:0000407HP:0000407Sensorineural hearing impairment0PEX11B CL E G H8799912ORPHA12848853603867
HP:0000407HP:0000407Sensorineural hearing impairment0PEX11B CL E G H8799912ORPHA13328853603867
HP:0000407HP:0000407Sensorineural hearing impairment0PEX11B CL E G H879944MYBPC1-related conditionORPHA12848853603867
HP:0000407HP:0000407Sensorineural hearing impairment0PEX11B CL E G H879944MYBPC1-related conditionORPHA13328853603867
HP:0000407HP:0000407Sensorineural hearing impairment0PEX12 CL E G H5193772ORPHA12458854601758
HP:0000407HP:0000407Sensorineural hearing impairment0PEX12 CL E G H5193772ORPHA13208854601758
HP:0000407HP:0000407Sensorineural hearing impairment0PEX12 CL E G H5193912ORPHA12458854601758
HP:0000407HP:0000407Sensorineural hearing impairment0PEX12 CL E G H5193912ORPHA13208854601758
HP:0000407HP:0000407Sensorineural hearing impairment0PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM12458854601758
HP:0000407HP:0000407Sensorineural hearing impairment0PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM13208854601758
HP:0000407HP:0000407Sensorineural hearing impairment0PEX12 CL E G H519344MYBPC1-related conditionORPHA12458854601758
HP:0000407HP:0000407Sensorineural hearing impairment0PEX12 CL E G H519344MYBPC1-related conditionORPHA13208854601758
HP:0000407HP:0000407Sensorineural hearing impairment0PEX13 CL E G H5194772ORPHA12348855601789
HP:0000407HP:0000407Sensorineural hearing impairment0PEX13 CL E G H5194772ORPHA13428855601789
HP:0000407HP:0000407Sensorineural hearing impairment0PEX13 CL E G H5194912ORPHA12348855601789
HP:0000407HP:0000407Sensorineural hearing impairment0PEX13 CL E G H5194912ORPHA13428855601789
HP:0000407HP:0000407Sensorineural hearing impairment0PEX13 CL E G H519444MYBPC1-related conditionORPHA12348855601789
HP:0000407HP:0000407Sensorineural hearing impairment0PEX13 CL E G H519444MYBPC1-related conditionORPHA13428855601789
HP:0000407HP:0000407Sensorineural hearing impairment0PEX14 CL E G H5195772ORPHA12348856601791
HP:0000407HP:0000407Sensorineural hearing impairment0PEX14 CL E G H5195772ORPHA13118856601791
HP:0000407HP:0000407Sensorineural hearing impairment0PEX14 CL E G H5195912ORPHA12348856601791
HP:0000407HP:0000407Sensorineural hearing impairment0PEX14 CL E G H5195912ORPHA13118856601791
HP:0000407HP:0000407Sensorineural hearing impairment0PEX14 CL E