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 2N613287C2750090OMIM12120601065
HP:0000407HP:0000407Sensorineural hearing impairment0ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11280151134601691
HP:0000407HP:0000407Sensorineural hearing impairment0ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM12116115868613599
HP:0000407HP:0000407Sensorineural hearing impairment0ABHD5 CL E G H5109998907ORPHA13915521396604780
HP:0000407HP:0000407Sensorineural hearing impairment0ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM13915521396604780
HP:0000407HP:0000407Sensorineural hearing impairment0ACOX1 CL E G H512971ORPHA126257119609751
HP:0000407HP:0000407Sensorineural hearing impairment0ACTB CL E G H6079107ORPHA165224132102630
HP:0000407HP:0000407Sensorineural hearing impairment0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM165224132102630
HP:0000407HP:0000407Sensorineural hearing impairment0ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM165224132102630
HP:0000407HP:0000407Sensorineural hearing impairment0ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM120104171102576
HP:0000407HP:0000407Sensorineural hearing impairment0ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM11557177104620
HP:0000407HP:0000407Sensorineural hearing impairment0ADGRV1 CL E G H84059231178ORPHA1249147917416602851
HP:0000407HP:0000407Sensorineural hearing impairment0AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1911426147615900
HP:0000407HP:0000407Sensorineural hearing impairment0AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19642221575608894
HP:0000407HP:0000407Sensorineural hearing impairment0AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14116348600253
HP:0000407HP:0000407Sensorineural hearing impairment0ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM11626319358607144
HP:0000407HP:0000407Sensorineural hearing impairment0AMMECR1 CL E G H9949300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis300990C4310810OMIM15181467300195
HP:0000407HP:0000407Sensorineural hearing impairment0AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM114204560300629
HP:0000407HP:0000407Sensorineural hearing impairment0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM19320492616003
HP:0000407HP:0000407Sensorineural hearing impairment0ARHGDIA CL E G H396615244Nephrotic syndrome, type 8615244C3808953OMIM1336678601925
HP:0000407HP:0000407Sensorineural hearing impairment0ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1715117090616432
HP:0000407HP:0000407Sensorineural hearing impairment0ARID1B CL E G H57492251056ORPHA118857518040614556
HP:0000407HP:0000407Sensorineural hearing impairment0ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153517146615407
HP:0000407HP:0000407Sensorineural hearing impairment0ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1333694604695
HP:0000407HP:0000407Sensorineural hearing impairment0ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1217913210608845
HP:0000407HP:0000407Sensorineural hearing impairment0ARSG CL E G H22901231183ORPHA137324102610008
HP:0000407HP:0000407Sensorineural hearing impairment0ATP1A3 CL E G H4781171ORPHA1122407801182350
HP:0000407HP:0000407Sensorineural hearing impairment0ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1122407801182350
HP:0000407HP:0000407Sensorineural hearing impairment0ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM15233868300197
HP:0000407HP:0000407Sensorineural hearing impairment0ATP6V1B1 CL E G H525267300Renal tubular acidosis with progressive nerve deafness267300C0403554OMIM161160853192132
HP:0000407HP:0000407Sensorineural hearing impairment0ATP6V1B2 CL E G H526124480Deafness, congenital, with onychodystrophy, autosomal dominant124480C2675730OMIM1493854606939
HP:0000407HP:0000407Sensorineural hearing impairment0ATP6V1B2 CL E G H526616455Zimmermann-Laband syndrome 2616455C4225321OMIM1493854606939
HP:0000407HP:0000407Sensorineural hearing impairment0ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM1170663886300032
HP:0000407HP:0000407Sensorineural hearing impairment0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM1170663886300032
HP:0000407HP:0000407Sensorineural hearing impairment0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA15187961605681
HP:0000407HP:0000407Sensorineural hearing impairment0BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA196277967606151
HP:0000407HP:0000407Sensorineural hearing impairment0BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM1924716695300398
HP:0000407HP:0000407Sensorineural hearing impairment0BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM15541520893300485
HP:0000407HP:0000407Sensorineural hearing impairment0BCS1L CL E G H617123ORPHA1371741020603647
HP:0000407HP:0000407Sensorineural hearing impairment0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM1371741020603647
HP:0000407HP:0000407Sensorineural hearing impairment0BCS1L CL E G H617262000Pili torti-deafness syndrome262000C0266006OMIM1371741020603647
HP:0000407HP:0000407Sensorineural hearing impairment0BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131935412703607854
HP:0000407HP:0000407Sensorineural hearing impairment0BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM1684901097164757
HP:0000407HP:0000407Sensorineural hearing impairment0BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM1684901097164757
HP:0000407HP:0000407Sensorineural hearing impairment0BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM12411416512606412
HP:0000407HP:0000407Sensorineural hearing impairment0BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM12483711122609019
HP:0000407HP:0000407Sensorineural hearing impairment0BTK CL E G H69547ORPHA19104211133300300
HP:0000407HP:0000407Sensorineural hearing impairment0C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11711927232614477
HP:0000407HP:0000407Sensorineural hearing impairment0CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110851375114760
HP:0000407HP:0000407Sensorineural hearing impairment0CASK CL E G H8573163937ORPHA11194461497300172
HP:0000407HP:0000407Sensorineural hearing impairment0CATSPER2 CL E G H11715594064ORPHA178918810607249
HP:0000407HP:0000407Sensorineural hearing impairment0CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM11330529426612753
HP:0000407HP:0000407Sensorineural hearing impairment0CCDC50 CL E G H152137607453Deafness, autosomal dominant 44607453C1843895OMIM1410218111611051
HP:0000407HP:0000407Sensorineural hearing impairment0CD151 CL E G H977609057Nephropathy with pretibial epidermolysis bullosa and deafness609057C1836823OMIM16451630602243
HP:0000407HP:0000407Sensorineural hearing impairment0CD164 CL E G H8763616969Deafness, autosomal dominant 66616969C4283893OMIM11311632603356
HP:0000407HP:0000407Sensorineural hearing impairment0CDH23 CL E G H64072231169ORPHA1361143713733605516
HP:0000407HP:0000407Sensorineural hearing impairment0CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14934614550609502
HP:0000407HP:0000407Sensorineural hearing impairment0CEP78 CL E G H84131231183ORPHA11015525740617110
HP:0000407HP:0000407Sensorineural hearing impairment0CEP78 CL E G H84131617236Cone-rod dystrophy and hearing loss617236C4310657OMIM11015525740617110
HP:0000407HP:0000407Sensorineural hearing impairment0CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13925021699608381
HP:0000407HP:0000407Sensorineural hearing impairment0CHD7 CL E G H55636612370Kallmann syndrome 5612370C2675302OMIM1884126620626608892
HP:0000407HP:0000407Sensorineural hearing impairment0CHN1 CL E G H1123233D ercole syndromeORPHA1111111943118423
HP:0000407HP:0000407Sensorineural hearing impairment0CIB2 CL E G H10518231169ORPHA1186524579605564
HP:0000407HP:0000407Sensorineural hearing impairment0CISD2 CL E G H4938563463ORPHA142324212611507
HP:0000407HP:0000407Sensorineural hearing impairment0CISD2 CL E G H493856604928Wolfram syndrome 2604928C1858028OMIM142324212611507
HP:0000407HP:0000407Sensorineural hearing impairment0CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM161052026602024
HP:0000407HP:0000407Sensorineural hearing impairment0CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM11521662027602023
HP:0000407HP:0000407Sensorineural hearing impairment0CLDN14 CL E G H23562614035Deafness, autosomal recessive 29614035C3279660OMIM1131422035605608
HP:0000407HP:0000407Sensorineural hearing impairment0CLIC5 CL E G H53405616042Deafness, autosomal recessive 103616042C4015050OMIM124813517607293
HP:0000407HP:0000407Sensorineural hearing impairment0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA111742586603432
HP:0000407HP:0000407Sensorineural hearing impairment0CLRN1 CL E G H7401231183ORPHA13917512605606397
HP:0000407HP:0000407Sensorineural hearing impairment0CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13917512605606397
HP:0000407HP:0000407Sensorineural hearing impairment0CLRN1 CL E G H7401276902Usher syndrome, type 3A276902C1568248OMIM13917512605606397
HP:0000407HP:0000407Sensorineural hearing impairment0CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1331672148123825
HP:0000407HP:0000407Sensorineural hearing impairment0CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1624202151600724
HP:0000407HP:0000407Sensorineural hearing impairment0COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM171925716615623
HP:0000407HP:0000407Sensorineural hearing impairment0COCH CL E G H1690618094DEAFNESS, AUTOSOMAL RECESSIVE 110618094CN253427OMIM1291202180603196
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A1 CL E G H130190654ORPHA11065602186120280
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A1 CL E G H1301250984ORPHA11065602186120280
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A1 CL E G H1301440354ORPHA11065602186120280
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A1 CL E G H1301560ORPHA11065602186120280
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM11065602186120280
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM11065602186120280
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A2 CL E G H13021427ORPHA1594712187120290
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A2 CL E G H1302166100ORPHA1594712187120290
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A2 CL E G H1302601868Deafness, autosomal dominant 13601868C1866095OMIM1594712187120290
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A2 CL E G H1302609706Deafness, autosomal recessive 53609706C1864746OMIM1594712187120290
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A2 CL E G H1302215150Otospondylomegaepiphyseal dysplasia215150C0432210OMIM1594712187120290
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A2 CL E G H1302184840Stickler syndrome, type 3184840C1861481OMIM1594712187120290
HP:0000407HP:0000407Sensorineural hearing impairment0COL25A1 CL E G H84570233D ercole syndromeORPHA144118603610004
HP:0000407HP:0000407Sensorineural hearing impairment0COL2A1 CL E G H128090653ORPHA15707312200120140
HP:0000407HP:0000407Sensorineural hearing impairment0COL2A1 CL E G H1280271700Spondyloperipheral dysplasia271700C0796173OMIM15707312200120140
HP:0000407HP:0000407Sensorineural hearing impairment0COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM15707312200120140
HP:0000407HP:0000407Sensorineural hearing impairment0COL4A3 CL E G H1285104200Alport syndrome, autosomal dominant104200C1567743OMIM12726132204120070
HP:0000407HP:0000407Sensorineural hearing impairment0COL4A5 CL E G H1287301050Alport syndrome, X-linked recessive301050C1567742OMIM1100013572207303630
HP:0000407HP:0000407Sensorineural hearing impairment0COL9A1 CL E G H1297250984ORPHA162812217120210
HP:0000407HP:0000407Sensorineural hearing impairment0COL9A1 CL E G H1297614134Stickler syndrome, type 4614134C3279941OMIM162812217120210
HP:0000407HP:0000407Sensorineural hearing impairment0COL9A2 CL E G H1298250984ORPHA1132152218120260
HP:0000407HP:0000407Sensorineural hearing impairment0COL9A2 CL E G H1298614284Stickler syndrome, type 5614284C3280342OMIM1132152218120260
HP:0000407HP:0000407Sensorineural hearing impairment0COL9A3 CL E G H1299250984ORPHA1171842219120270
HP:0000407HP:0000407Sensorineural hearing impairment0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM13310225223609825
HP:0000407HP:0000407Sensorineural hearing impairment0COQ6 CL E G H51004614650Coenzyme Q10 deficiency, primary, 6614650C3553349OMIM1168220233614647
HP:0000407HP:0000407Sensorineural hearing impairment0COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1132082260602125
HP:0000407HP:0000407Sensorineural hearing impairment0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM1132082260602125
HP:0000407HP:0000407Sensorineural hearing impairment0COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111428216614478
HP:0000407HP:0000407Sensorineural hearing impairment0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM151882263603646
HP:0000407HP:0000407Sensorineural hearing impairment0COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1112726970614698
HP:0000407HP:0000407Sensorineural hearing impairment0COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13342280124089
HP:0000407HP:0000407Sensorineural hearing impairment0COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM11122294123870
HP:0000407HP:0000407Sensorineural hearing impairment0CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13475442343604210
HP:0000407HP:0000407Sensorineural hearing impairment0CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11072982383602225
HP:0000407HP:0000407Sensorineural hearing impairment0CRYM CL E G H1428616357Deafness, autosomal dominant 40616357C4084708OMIM14542418123740
HP:0000407HP:0000407Sensorineural hearing impairment0DAB1 CL E G H1600363710ORPHA12482661603448
HP:0000407HP:0000407Sensorineural hearing impairment0DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM11817525784612515
HP:0000407HP:0000407Sensorineural hearing impairment0DCDC2 CL E G H51473610212Deafness, autosomal recessive 66610212C1857750OMIM11110618141605755
HP:0000407HP:0000407Sensorineural hearing impairment0DCHS1 CL E G H8642601390601390601390OMIM12418013681603057
HP:0000407HP:0000407Sensorineural hearing impairment0DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA117672718600811
HP:0000407HP:0000407Sensorineural hearing impairment0DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM1641222858601465
HP:0000407HP:0000407Sensorineural hearing impairment0DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1812220603608172
HP:0000407HP:0000407Sensorineural hearing impairment0DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1214117211605584
HP:0000407HP:0000407Sensorineural hearing impairment0DIABLO CL E G H56616614152Deafness, autosomal dominant 64614152C3279948OMIM124821528605219
HP:0000407HP:0000407Sensorineural hearing impairment0DIAPH1 CL E G H1729124900Deafness, autosomal dominant 1124900C1852282OMIM1153592876602121
HP:0000407HP:0000407Sensorineural hearing impairment0DIAPH3 CL E G H81624609129Auditory neuropathy, autosomal dominant, 1609129C1836743OMIM1912615480614567
HP:0000407HP:0000407Sensorineural hearing impairment0DLX5 CL E G H1749220600Split-hand/foot malformation 1 with sensorineural hearing loss220600C1857344OMIM111272918600028
HP:0000407HP:0000407Sensorineural hearing impairment0DMP1 CL E G H1758289176ORPHA1111072932600980
HP:0000407HP:0000407Sensorineural hearing impairment0DMP1 CL E G H1758241520Autosomal recessive hypophosphatemic vitamin D refractory rickets241520C0342643OMIM1111072932600980
HP:0000407HP:0000407Sensorineural hearing impairment0DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM14809439601184
HP:0000407HP:0000407Sensorineural hearing impairment0DNMT1 CL E G H1786314404ORPHA1235102976126375
HP:0000407HP:0000407Sensorineural hearing impairment0DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM1235102976126375
HP:0000407HP:0000407Sensorineural hearing impairment0DNMT1 CL E G H1786614116Hereditary sensory neuropathy type IE614116C3279885OMIM1235102976126375
HP:0000407HP:0000407Sensorineural hearing impairment0DUX4 CL E G H100288687269ORPHA150800606009
HP:0000407HP:0000407Sensorineural hearing impairment0EDN3 CL E G H1908613265Waardenburg syndrome type 4B613265C2750457OMIM1211173178131242
HP:0000407HP:0000407Sensorineural hearing impairment0EDNRB CL E G H1910895ORPHA1701913180131244
HP:0000407HP:0000407Sensorineural hearing impairment0EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM1701913180131244
HP:0000407HP:0000407Sensorineural hearing impairment0EFNB1 CL E G H19471520ORPHA11181813226300035
HP:0000407HP:0000407Sensorineural hearing impairment0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA11275233327130160
HP:0000407HP:0000407Sensorineural hearing impairment0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM11275233327130160
HP:0000407HP:0000407Sensorineural hearing impairment0ENPP1 CL E G H5167289176ORPHA1772743356173335
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC1 CL E G H20671466ORPHA18533433126380
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC2 CL E G H20681466ORPHA11082273434126340
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA11082273434126340
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM11082273434126340
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA1201223435133510
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM1201223435133510
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA1723483436133520
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC5 CL E G H20731466ORPHA1592633437133530
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA1592633437133530
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC6 CL E G H20741466ORPHA11404993438609413
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM11404993438609413
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM11404993438609413
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM11404993438609413
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM1701993439609412
HP:0000407HP:0000407Sensorineural hearing impairment0ESPN CL E G H83715609006Deafness, autosomal recessive 36, with or without vestibular involvement609006C1837007OMIM11515813281606351
HP:0000407HP:0000407Sensorineural hearing impairment0ESRRB CL E G H2103608565Deafness, autosomal recessive 35608565C1837857OMIM1201483473602167
HP:0000407HP:0000407Sensorineural hearing impairment0EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM125917097602238
HP:0000407HP:0000407Sensorineural hearing impairment0EYA1 CL E G H213852429ORPHA12212903519601653
HP:0000407HP:0000407Sensorineural hearing impairment0EYA1 CL E G H2138602588Branchiootic syndrome602588C1865143OMIM12212903519601653
HP:0000407HP:0000407Sensorineural hearing impairment0EYA4 CL E G H2070601316Deafness, autosomal dominant 10601316C1832476OMIM1293103522603550
HP:0000407HP:0000407Sensorineural hearing impairment0EYA4 CL E G H2070605362Dilated cardiomyopathy 1J605362C1854368OMIM1293103522603550
HP:0000407HP:0000407Sensorineural hearing impairment0EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1338106421555612424
HP:0000407HP:0000407Sensorineural hearing impairment0FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12020725808613596
HP:0000407HP:0000407Sensorineural hearing impairment0FAS CL E G H3553437ORPHA114216911920134637
HP:0000407HP:0000407Sensorineural hearing impairment0FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1323529160612322
HP:0000407HP:0000407Sensorineural hearing impairment0FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM13731723109612411
HP:0000407HP:0000407Sensorineural hearing impairment0FGF3 CL E G H224890024ORPHA120353681164950
HP:0000407HP:0000407Sensorineural hearing impairment0FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM12653883688136350
HP:0000407HP:0000407Sensorineural hearing impairment0FGFR3 CL E G H226153271ORPHA1774313690134934
HP:0000407HP:0000407Sensorineural hearing impairment0FGFR3 CL E G H2261610474Camptodactyly, tall stature, and hearing loss syndrome610474C1864852OMIM1774313690134934
HP:0000407HP:0000407Sensorineural hearing impairment0FGFR3 CL E G H2261602849Muenke syndrome602849C1864436OMIM1774313690134934
HP:0000407HP:0000407Sensorineural hearing impairment0FKBP14 CL E G H55033300179ORPHA168618625614505
HP:0000407HP:0000407Sensorineural hearing impairment0FLNA CL E G H23161826Dexamethasone sensitive hypertensionORPHA127114723754300017
HP:0000407HP:0000407Sensorineural hearing impairment0FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM127114723754300017
HP:0000407HP:0000407Sensorineural hearing impairment0FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM11225203755603381
HP:0000407HP:0000407Sensorineural hearing impairment0FOXC1 CL E G H2296602482Axenfeld-Rieger syndrome type 3602482C2678503OMIM11392153800601090
HP:0000407HP:0000407Sensorineural hearing impairment0FOXI1 CL E G H2299705ORPHA111833815601093
HP:0000407HP:0000407Sensorineural hearing impairment0FOXI1 CL E G H2299600791Enlarged vestibular aqueduct600791C1863752OMIM111833815601093
HP:0000407HP:0000407Sensorineural hearing impairment0FRG1 CL E G H2483269ORPHA121193954601278
HP:0000407HP:0000407Sensorineural hearing impairment0FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM121193954601278
HP:0000407HP:0000407Sensorineural hearing impairment0FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1151673960607643
HP:0000407HP:0000407Sensorineural hearing impairment0FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM11614824678610966
HP:0000407HP:0000407Sensorineural hearing impairment0GAB1 CL E G H2549605428Deafness, autosomal recessive 26605428C1854275OMIM14264066604439
HP:0000407HP:0000407Sensorineural hearing impairment0GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM1271124116606953
HP:0000407HP:0000407Sensorineural hearing impairment0GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA11515164171137295
HP:0000407HP:0000407Sensorineural hearing impairment0GDF5 CL E G H82003250ORPHA159984220601146
HP:0000407HP:0000407Sensorineural hearing impairment0GFER CL E G H2671613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay613076C2751320OMIM16964236600924
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H2706477ORPHA14103854284121011
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H2706494ORPHA14103854284121011
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H27062698ORPHA14103854284121011
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H2706601544Deafness, autosomal dominant 3a601544C2675750OMIM14103854284121011
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H2706220290Deafness, autosomal recessive 1A220290C2673759OMIM14103854284121011
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H27062202Exostoses anetodermia brachydactyly type EORPHA14103854284121011
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H2706602540Hystrix-like ichthyosis with deafness602540C1865234OMIM14103854284121011
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H2706148210Keratitis-ichthyosis-deafness syndrome, autosomal dominant148210C1835678OMIM14103854284121011
HP:0000407HP:0000407Sensorineural hearing impairment0GJB3 CL E G H2707220290Deafness, autosomal recessive 1A220290C2673759OMIM1401224285603324
HP:0000407HP:0000407Sensorineural hearing impairment0GJB6 CL E G H10804477ORPHA1341574288604418
HP:0000407HP:0000407Sensorineural hearing impairment0GJB6 CL E G H10804220290Deafness, autosomal recessive 1A220290C2673759OMIM1341574288604418
HP:0000407HP:0000407Sensorineural hearing impairment0GJC2 CL E G H57165320401ORPHA15713317494608803
HP:0000407HP:0000407Sensorineural hearing impairment0GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM15713317494608803
HP:0000407HP:0000407Sensorineural hearing impairment0GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM14915122932615320
HP:0000407HP:0000407Sensorineural hearing impairment0GRHL2 CL E G H79977608641Deafness, autosomal dominant 28608641C1837640OMIM113962799608576
HP:0000407HP:0000407Sensorineural hearing impairment0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA111574659601679
HP:0000407HP:0000407Sensorineural hearing impairment0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA162064661604318
HP:0000407HP:0000407Sensorineural hearing impairment0GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA171074679602275
HP:0000407HP:0000407Sensorineural hearing impairment0GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM12433884689600179
HP:0000407HP:0000407Sensorineural hearing impairment0HACE1 CL E G H57531464282ORPHA1136321033610876
HP:0000407HP:0000407Sensorineural hearing impairment0HARS CL E G H3035231183ORPHA1134816142810
HP:0000407HP:0000407Sensorineural hearing impairment0HARS2 CL E G H23438614926Perrault syndrome 2614926C3554105OMIM13764817600783
HP:0000407HP:0000407Sensorineural hearing impairment0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA15622713315300269
HP:0000407HP:0000407Sensorineural hearing impairment0HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17237126527610453
HP:0000407HP:0000407Sensorineural hearing impairment0HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM181105099142955
HP:0000407HP:0000407Sensorineural hearing impairment0HOXA11 CL E G H3207605432Radioulnar synostosis with amegakaryocytic thrombocytopenia605432C1854273OMIM12405101142958
HP:0000407HP:0000407Sensorineural hearing impairment0HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM16275111142968
HP:0000407HP:0000407Sensorineural hearing impairment0HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM1171794800300256
HP:0000407HP:0000407Sensorineural hearing impairment0HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM11013055213601860
HP:0000407HP:0000407Sensorineural hearing impairment0IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM1911429685612801
HP:0000407HP:0000407Sensorineural hearing impairment0IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141025385604526
HP:0000407HP:0000407Sensorineural hearing impairment0IDUA CL E G H342593476ORPHA12916225391252800
HP:0000407HP:0000407Sensorineural hearing impairment0IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17253029077614620
HP:0000407HP:0000407Sensorineural hearing impairment0IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12726930391607386
HP:0000407HP:0000407Sensorineural hearing impairment0IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA165520606600595
HP:0000407HP:0000407Sensorineural hearing impairment0IGBP1 CL E G H347652055ORPHA121425461300139
HP:0000407HP:0000407Sensorineural hearing impairment0IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM121425461300139
HP:0000407HP:0000407Sensorineural hearing impairment0IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM1131675464147440
HP:0000407HP:0000407Sensorineural hearing impairment0ILDR1 CL E G H286676609646Deafness, autosomal recessive 42609646C1864818OMIM12710628741609739
HP:0000407HP:0000407Sensorineural hearing impairment0IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1241986052146690
HP:0000407HP:0000407Sensorineural hearing impairment0IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14234618362607056
HP:0000407HP:0000407Sensorineural hearing impairment0IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM164014361606195
HP:0000407HP:0000407Sensorineural hearing impairment0KCNJ10 CL E G H3766199343ORPHA1332336256602208
HP:0000407HP:0000407Sensorineural hearing impairment0KCNJ10 CL E G H3766705ORPHA1332336256602208
HP:0000407HP:0000407Sensorineural hearing impairment0KCNJ10 CL E G H3766600791Enlarged vestibular aqueduct600791C1863752OMIM1332336256602208
HP:0000407HP:0000407Sensorineural hearing impairment0KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM1332336256602208
HP:0000407HP:0000407Sensorineural hearing impairment0KDM6A CL E G H74032322ORPHA18131112637300128
HP:0000407HP:0000407Sensorineural hearing impairment0KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1927322219613344
HP:0000407HP:0000407Sensorineural hearing impairment0KITLG CL E G H4254895ORPHA115406343184745
HP:0000407HP:0000407Sensorineural hearing impairment0KITLG CL E G H4254616697Deafness, autosomal dominant 69616697C4225241OMIM115406343184745
HP:0000407HP:0000407Sensorineural hearing impairment0KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA148615865615757
HP:0000407HP:0000407Sensorineural hearing impairment0KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11412715646611119
HP:0000407HP:0000407Sensorineural hearing impairment0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA11273797132159555
HP:0000407HP:0000407Sensorineural hearing impairment0KMT2D CL E G H80852322ORPHA171213507133602113
HP:0000407HP:0000407Sensorineural hearing impairment0LHX3 CL E G H8022231720ORPHA1181756595600577
HP:0000407HP:0000407Sensorineural hearing impairment0LHX3 CL E G H8022221750Pituitary hormone deficiency, combined 3221750C3489787OMIM1181756595600577
HP:0000407HP:0000407Sensorineural hearing impairment0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA171936613601329
HP:0000407HP:0000407Sensorineural hearing impairment0LMNA CL E G H4000740Aortic arch interruptionORPHA157411526636150330
HP:0000407HP:0000407Sensorineural hearing impairment0LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM11953046654602575
HP:0000407HP:0000407Sensorineural hearing impairment0LONP1 CL E G H93611458ORPHA1191319479605490
HP:0000407HP:0000407Sensorineural hearing impairment0LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1241586685604863
HP:0000407HP:0000407Sensorineural hearing impairment0LRP2 CL E G H40362143Junctional epidermolysis bullosa inversaORPHA1466006694600073
HP:0000407HP:0000407Sensorineural hearing impairment0LRP4 CL E G H40383152Kuster syndromeORPHA1343756696604270
HP:0000407HP:0000407Sensorineural hearing impairment0LRP5 CL E G H40413416Mathieu De Broca Bony syndromeORPHA12214116697603506
HP:0000407HP:0000407Sensorineural hearing impairment0LRP5 CL E G H4041144750Worth disease144750C0432273OMIM12214116697603506
HP:0000407HP:0000407Sensorineural hearing impairment0MAF CL E G H4094601088Ayme-gripp syndrome601088C1832812OMIM1221726776177075
HP:0000407HP:0000407Sensorineural hearing impairment0MAFB CL E G H9935233D ercole syndromeORPHA1251056408608968
HP:0000407HP:0000407Sensorineural hearing impairment0MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1241416816154235
HP:0000407HP:0000407Sensorineural hearing impairment0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM11513936826609458
HP:0000407HP:0000407Sensorineural hearing impairment0MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM1232136840176872
HP:0000407HP:0000407Sensorineural hearing impairment0MAP3K20 CL E G H51776616890Split-foot malformation with mesoaxial polydactyly616890C4225167OMIM173617797609479
HP:0000407HP:0000407Sensorineural hearing impairment0MAP3K7 CL E G H68851826Dexamethasone sensitive hypertensionORPHA113646859602614
HP:0000407HP:0000407Sensorineural hearing impairment0MBTPS2 CL E G H51360659AmyoplasiaORPHA12620715455300294
HP:0000407HP:0000407Sensorineural hearing impairment0MED12 CL E G H9968305450FG syndrome305450C0220769OMIM13465011957300188
HP:0000407HP:0000407Sensorineural hearing impairment0MEOX1 CL E G H4222214300Klippel-Feil syndrome 2, autosomal recessive214300C1859209OMIM14397013600147
HP:0000407HP:0000407Sensorineural hearing impairment0MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1893177027604705
HP:0000407HP:0000407Sensorineural hearing impairment0MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM151077045602616
HP:0000407HP:0000407Sensorineural hearing impairment0MIR96 CL E G H407053613074Deafness, autosomal dominant 50613074C3888123OMIM143031648611606
HP:0000407HP:0000407Sensorineural hearing impairment0MITF CL E G H4286895ORPHA1612407105156845
HP:0000407HP:0000407Sensorineural hearing impairment0MITF CL E G H4286103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM1612407105156845
HP:0000407HP:0000407Sensorineural hearing impairment0MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM1619712744605678
HP:0000407HP:0000407Sensorineural hearing impairment0MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM1817324862601336
HP:0000407HP:0000407Sensorineural hearing impairment0MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM12464447225159440
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 H4558551ORPHA17481590070
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TF CL E G H4558550ORPHA17481590070
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 H4567551ORPHA17490590050
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TL1 CL E G H4567550ORPHA17490590050
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 H4572551ORPHA17495590030
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TQ CL E G H4572550ORPHA17495590030
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TS1 CL E G H4574551ORPHA17497590080
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TS1 CL E G H4574550ORPHA17497590080
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 H4575551ORPHA17498590085
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TS2 CL E G H4575550ORPHA17498590085
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 H4647231169ORPHA152712577606276903
HP:0000407HP:0000407Sensorineural hearing impairment0MYO7A CL E G H4647231178ORPHA152712577606276903
HP:0000407HP:0000407Sensorineural hearing impairment0MYO7A CL E G H4647600060Deafness, autosomal recessive 2600060C1838701OMIM152712577606276903
HP:0000407HP:0000407Sensorineural hearing impairment0MYO7A CL E G H4647276900Usher syndrome, type 1276900C1568247OMIM152712577606276903
HP:0000407HP:0000407Sensorineural hearing impairment0NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM1111307631104170
HP:0000407HP:0000407Sensorineural hearing impairment0NDP CL E G H4693310600Atrophia bulborum hereditaria310600C0266526OMIM11672077678300658
HP:0000407HP:0000407Sensorineural hearing impairment0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM117697711602694
HP:0000407HP:0000407Sensorineural hearing impairment0NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11287745604043
HP:0000407HP:0000407Sensorineural hearing impairment0NEU1 CL E G H4758812ORPHA1641027758608272
HP:0000407HP:0000407Sensorineural hearing impairment0NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM1641027758608272
HP:0000407HP:0000407Sensorineural hearing impairment0NF2 CL E G H4771637ORPHA14377777773607379
HP:0000407HP:0000407Sensorineural hearing impairment0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA143780928862608667
HP:0000407HP:0000407Sensorineural hearing impairment0NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM143780928862608667
HP:0000407HP:0000407Sensorineural hearing impairment0NLRC4 CL E G H584841451ORPHA1921416412606831
HP:0000407HP:0000407Sensorineural hearing impairment0NLRP12 CL E G H91662611762Familial cold autoinflammatory syndrome 2611762C2673198OMIM11243122938609648
HP:0000407HP:0000407Sensorineural hearing impairment0NLRP3 CL E G H1145481451ORPHA114248816400606416
HP:0000407HP:0000407Sensorineural hearing impairment0NOG CL E G H92413250ORPHA164477866602991
HP:0000407HP:0000407Sensorineural hearing impairment0NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1802267974604485
HP:0000407HP:0000407Sensorineural hearing impairment0NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM1141817989164790
HP:0000407HP:0000407Sensorineural hearing impairment0NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1251338002162080
HP:0000407HP:0000407Sensorineural hearing impairment0OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11625102567300170
HP:0000407HP:0000407Sensorineural hearing impairment0OPA1 CL E G H49761215Cerebro reno digital syndromeORPHA13944418140605290
HP:0000407HP:0000407Sensorineural hearing impairment0OPA1 CL E G H4976616896Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)616896C4225163OMIM13944418140605290
HP:0000407HP:0000407Sensorineural hearing impairment0OSBPL2 CL E G H9885616340Deafness, autosomal dominant 67616340C4084712OMIM135415761606731
HP:0000407HP:0000407Sensorineural hearing impairment0OTOA CL E G H146183607039Deafness, autosomal recessive 22607039C1846896OMIM12822616378607038
HP:0000407HP:0000407Sensorineural hearing impairment0OTOF CL E G H9381601071Deafness, autosomal recessive 9601071C1832828OMIM11675998515603681
HP:0000407HP:0000407Sensorineural hearing impairment0PAX2 CL E G H5076120330Renal coloboma syndrome120330C1852759OMIM198938616167409
HP:0000407HP:0000407Sensorineural hearing impairment0PAX3 CL E G H50771529ORPHA11531818617606597
HP:0000407HP:0000407Sensorineural hearing impairment0PAX3 CL E G H5077122880Craniofacial deafness hand syndrome122880C1852510OMIM11531818617606597
HP:0000407HP:0000407Sensorineural hearing impairment0PAX3 CL E G H5077148820Klein-Waardenberg's syndrome148820C0342680OMIM11531818617606597
HP:0000407HP:0000407Sensorineural hearing impairment0PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15341834383613425
HP:0000407HP:0000407Sensorineural hearing impairment0PCDH15 CL E G H65217231169ORPHA1122104914674605514
HP:0000407HP:0000407Sensorineural hearing impairment0PCDH15 CL E G H65217609533Deafness, autosomal recessive 23609533C1836027OMIM1122104914674605514
HP:0000407HP:0000407Sensorineural hearing impairment0PCNT CL E G H51162637HemimegalencephalyORPHA18888516068605925
HP:0000407HP:0000407Sensorineural hearing impairment0PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1513438785180071
HP:0000407HP:0000407Sensorineural hearing impairment0PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11334748786180072
HP:0000407HP:0000407Sensorineural hearing impairment0PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12598789180073
HP:0000407HP:0000407Sensorineural hearing impairment0PDGFRB CL E G H5159601812Premature aging syndrome, Penttinen type601812C1866182OMIM1241508804173410
HP:0000407HP:0000407Sensorineural hearing impairment0PDZD7 CL E G H79955231178ORPHA11920526257612971
HP:0000407HP:0000407Sensorineural hearing impairment0PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM122840038614770
HP:0000407HP:0000407Sensorineural hearing impairment0PEX1 CL E G H51893220ORPHA11404898850602136
HP:0000407HP:0000407Sensorineural hearing impairment0PEX1 CL E G H5189912ORPHA11404898850602136
HP:0000407HP:0000407Sensorineural hearing impairment0PEX1 CL E G H5189772ORPHA11404898850602136
HP:0000407HP:0000407Sensorineural hearing impairment0PEX1 CL E G H5189234580Deafness enamel hypoplasia nail defects234580C1856186OMIM11404898850602136
HP:0000407HP:0000407Sensorineural hearing impairment0PEX1 CL E G H518944MYBPC1-related conditionORPHA11404898850602136
HP:0000407HP:0000407Sensorineural hearing impairment0PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM11404898850602136
HP:0000407HP:0000407Sensorineural hearing impairment0PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM11404898850602136
HP:0000407HP:0000407Sensorineural hearing impairment0PEX10 CL E G H5192912ORPHA1323478851602859
HP:0000407HP:0000407Sensorineural hearing impairment0PEX10 CL E G H5192772ORPHA1323478851602859
HP:0000407HP:0000407Sensorineural hearing impairment0PEX10 CL E G H519244MYBPC1-related conditionORPHA1323478851602859
HP:0000407HP:0000407Sensorineural hearing impairment0PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM1323478851602859
HP:0000407HP:0000407Sensorineural hearing impairment0PEX11B CL E G H8799912ORPHA182478853603867
HP:0000407HP:0000407Sensorineural hearing impairment0PEX11B CL E G H8799772ORPHA182478853603867
HP:0000407HP:0000407Sensorineural hearing impairment0PEX11B CL E G H879944MYBPC1-related conditionORPHA182478853603867
HP:0000407HP:0000407Sensorineural hearing impairment0PEX12 CL E G H5193772ORPHA1371818854601758
HP:0000407HP:0000407Sensorineural hearing impairment0PEX12 CL E G H5193912ORPHA1371818854601758
HP:0000407HP:0000407Sensorineural hearing impairment0PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM1371818854601758
HP:0000407HP:0000407Sensorineural hearing impairment0PEX12 CL E G H519344MYBPC1-related conditionORPHA1371818854601758
HP:0000407HP:0000407Sensorineural hearing impairment0PEX13 CL E G H5194912ORPHA1101968855601789
HP:0000407HP:0000407Sensorineural hearing impairment0PEX13 CL E G H5194772ORPHA1101968855601789
HP:0000407HP:0000407Sensorineural hearing impairment0PEX13 CL E G H519444MYBPC1-related conditionORPHA1101968855601789
HP:0000407HP:0000407Sensorineural hearing impairment0PEX14 CL E G H5195912ORPHA151768856601791
HP:0000407HP:0000407Sensorineural hearing impairment0PEX14 CL E G H5195772ORPHA151768856601791
HP:0000407HP:0000407Sensorineural hearing impairment0PEX14 CL E G H519544MYBPC1-related conditionORPHA151768856601791
HP:0000407HP:0000407Sensorineural hearing impairment0PEX16 CL E G H9409772ORPHA1151498857603360
HP:0000407HP:0000407Sensorineural hearing impairment0PEX16 CL E G H9409912ORPHA1151498857603360
HP:0000407HP:0000407Sensorineural hearing impairment0PEX16 CL E G H940944MYBPC1-related conditionORPHA1151498857603360
HP:0000407HP:0000407Sensorineural hearing impairment0PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM1151498857603360
HP:0000407HP:0000407Sensorineural hearing impairment0PEX19 CL E G H5824912ORPHA141339713600279
HP:0000407HP:0000407Sensorineural hearing impairment0PEX19 CL E G H5824772ORPHA141339713600279
HP:0000407HP:0000407Sensorineural hearing impairment0PEX19 CL E G H582444MYBPC1-related conditionORPHA141339713600279
HP:0000407HP:0000407Sensorineural hearing impairment0PEX2 CL E G H5828912ORPHA1182089717170993
HP:0000407HP:0000407Sensorineural hearing impairment0PEX2 CL E G H5828772ORPHA1182089717170993
HP:0000407HP:0000407Sensorineural hearing impairment0PEX2 CL E G H582844MYBPC1-related conditionORPHA1182089717170993
HP:0000407HP:0000407Sensorineural hearing impairment0PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM1182089717170993
HP:0000407HP:0000407Sensorineural hearing impairment0PEX26 CL E G H55670772ORPHA12727722965608666
HP:0000407HP:0000407Sensorineural hearing impairment0PEX26 CL E G H55670912ORPHA12727722965608666
HP:0000407HP:0000407Sensorineural hearing impairment0PEX26 CL E G H5567044MYBPC1-related conditionORPHA12727722965608666
HP:0000407HP:0000407Sensorineural hearing impairment0PEX26 CL E G H55670614873Peroxisome biogenesis disorder 7B614873C3553951OMIM12727722965608666
HP:0000407HP:0000407Sensorineural hearing impairment0PEX3 CL E G H8504912ORPHA1101168858603164
HP:0000407HP:0000407Sensorineural hearing impairment0PEX3 CL E G H8504772ORPHA1101168858603164
HP:0000407HP:0000407Sensorineural hearing impairment0PEX3 CL E G H850444MYBPC1-related conditionORPHA1101168858603164
HP:0000407HP:0000407Sensorineural hearing impairment0PEX5 CL E G H5830912ORPHA1142809719600414
HP:0000407HP:0000407Sensorineural hearing impairment0PEX5 CL E G H5830772ORPHA1142809719600414
HP:0000407HP:0000407Sensorineural hearing impairment0PEX5 CL E G H583044MYBPC1-related conditionORPHA1142809719600414
HP:0000407HP:0000407Sensorineural hearing impairment0PEX6 CL E G H5190912ORPHA11093758859601498
HP:0000407HP:0000407Sensorineural hearing impairment0PEX6 CL E G H5190772ORPHA11093758859601498
HP:0000407HP:0000407Sensorineural hearing impairment0PEX6 CL E G H51903220ORPHA11093758859601498
HP:0000407HP:0000407Sensorineural hearing impairment0PEX6 CL E G H519044MYBPC1-related conditionORPHA11093758859601498
HP:0000407HP:0000407Sensorineural hearing impairment0PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM11093758859601498
HP:0000407HP:0000407Sensorineural hearing impairment0PEX7 CL E G H5191773ORPHA1531878860601757
HP:0000407HP:0000407Sensorineural hearing impairment0PEX7 CL E G H5191614879Peroxisome biogenesis disorder 9B614879CN159238OMIM1531878860601757
HP:0000407HP:0000407Sensorineural hearing impairment0PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM1531878860601757
HP:0000407HP:0000407Sensorineural hearing impairment0PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM1531878860601757
HP:0000407HP:0000407Sensorineural hearing impairment0PGM3 CL E G H5238615816Immunodeficiency 23615816C4014371OMIM1161088907172100
HP:0000407HP:0000407Sensorineural hearing impairment0PHYH CL E G H5264773ORPHA1371278940602026
HP:0000407HP:0000407Sensorineural hearing impairment0PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM1371278940602026
HP:0000407HP:0000407Sensorineural hearing impairment0PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA1291568979171833
HP:0000407HP:0000407Sensorineural hearing impairment0PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM1291568979171833
HP:0000407HP:0000407Sensorineural hearing impairment0PJVK CL E G H494513610220Deafness, autosomal recessive 59610220C1857744OMIM12011429502610219
HP:0000407HP:0000407Sensorineural hearing impairment0PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM11653379118601097
HP:0000407HP:0000407Sensorineural hearing impairment0PNPLA6 CL E G H109082377ORPHA16137916268603197
HP:0000407HP:0000407Sensorineural hearing impairment0POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM13222499175174761
HP:0000407HP:0000407Sensorineural hearing impairment0POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM130011969179174763
HP:0000407HP:0000407Sensorineural hearing impairment0POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM130011969179174763
HP:0000407HP:0000407Sensorineural hearing impairment0POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA130011969179174763
HP:0000407HP:0000407Sensorineural hearing impairment0POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM130011969179174763
HP:0000407HP:0000407Sensorineural hearing impairment0POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18946119139606822
HP:0000407HP:0000407Sensorineural hearing impairment0POU3F4 CL E G H54561435Coloboma of lens ala nasiORPHA1842119217300039
HP:0000407HP:0000407Sensorineural hearing impairment0PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA179232528610598
HP:0000407HP:0000407Sensorineural hearing impairment0PRDM5 CL E G H1110790354ORPHA1131319349614161
HP:0000407HP:0000407Sensorineural hearing impairment0PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1833409454604365
HP:0000407HP:0000407Sensorineural hearing impairment0PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA177917348607301
HP:0000407HP:0000407Sensorineural hearing impairment0PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA117523215446606419
HP:0000407HP:0000407Sensorineural hearing impairment0PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147317349607795
HP:0000407HP:0000407Sensorineural hearing impairment0PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11117015860613979
HP:0000407HP:0000407Sensorineural hearing impairment0PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15333917340607300
HP:0000407HP:0000407Sensorineural hearing impairment0PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11813449942179605
HP:0000407HP:0000407Sensorineural hearing impairment0PRPS1 CL E G H56311187Cerebellar agenesisORPHA1322599462311850
HP:0000407HP:0000407Sensorineural hearing impairment0PRPS1 CL E G H5631311070Charcot-Marie-Tooth disease, X-linked recessive, type 5311070C1839566OMIM1322599462311850
HP:0000407HP:0000407Sensorineural hearing impairment0PRPS1 CL E G H5631304500Deafness, X-linked 1304500C1844677OMIM1322599462311850
HP:0000407HP:0000407Sensorineural hearing impairment0PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM1322599462311850
HP:0000407HP:0000407Sensorineural hearing impairment0PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM17609587612792
HP:0000407HP:0000407Sensorineural hearing impairment0PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM11434759644176876
HP:0000407HP:0000407Sensorineural hearing impairment0PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM11434759644176876
HP:0000407HP:0000407Sensorineural hearing impairment0PTPN22 CL E G H261913437ORPHA114289652600716
HP:0000407HP:0000407Sensorineural hearing impairment0PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM123424265608625
HP:0000407HP:0000407Sensorineural hearing impairment0RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM11510514263606144
HP:0000407HP:0000407Sensorineural hearing impairment0RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM117699801602048
HP:0000407HP:0000407Sensorineural hearing impairment0RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA1131499811606462
HP:0000407HP:0000407Sensorineural hearing impairment0RAP1A CL E G H59062322ORPHA12209855179520
HP:0000407HP:0000407Sensorineural hearing impairment0RAP1B CL E G H59082322ORPHA11199857179530
HP:0000407HP:0000407Sensorineural hearing impairment0RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1183779921180290
HP:0000407HP:0000407Sensorineural hearing impairment0RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110917819977608830
HP:0000407HP:0000407Sensorineural hearing impairment0REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA186930078609346
HP:0000407HP:0000407Sensorineural hearing impairment0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA141739970600404
HP:0000407HP:0000407Sensorineural hearing impairment0RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM11317930220611908
HP:0000407HP:0000407Sensorineural hearing impairment0RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1111149990600342
HP:0000407HP:0000407Sensorineural hearing impairment0RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA121926710012180380
HP:0000407HP:0000407Sensorineural hearing impairment0RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13713910024180090
HP:0000407HP:0000407Sensorineural hearing impairment0ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11811310254180721
HP:0000407HP:0000407Sensorineural hearing impairment0RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA119045810263603937
HP:0000407HP:0000407Sensorineural hearing impairment0RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA112128910274300757
HP:0000407HP:0000407Sensorineural hearing impairment0RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA145010288607331
HP:0000407HP:0000407Sensorineural hearing impairment0RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120832710294180069
HP:0000407HP:0000407Sensorineural hearing impairment0RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA124566210295312610
HP:0000407HP:0000407Sensorineural hearing impairment0RPL10 CL E G H6134435938ORPHA1624210298312173
HP:0000407HP:0000407Sensorineural hearing impairment0RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM117130910432300075
HP:0000407HP:0000407Sensorineural hearing impairment0RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA14321617296604712
HP:0000407HP:0000407Sensorineural hearing impairment0S1PR2 CL E G H9294610419Deafness, autosomal recessive 68610419C1835854OMIM13343169605111
HP:0000407HP:0000407Sensorineural hearing impairment0SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11613210521181031
HP:0000407HP:0000407Sensorineural hearing impairment0SALL4 CL E G H57167959ORPHA15714815924607343
HP:0000407HP:0000407Sensorineural hearing impairment0SALL4 CL E G H57167607323Duane-radial ray syndrome607323C1623209OMIM15714815924607343
HP:0000407HP:0000407Sensorineural hearing impairment0SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM1297172135607697
HP:0000407HP:0000407Sensorineural hearing impairment0SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA187113081611611
HP:0000407HP:0000407Sensorineural hearing impairment0SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1510110603603644
HP:0000407HP:0000407Sensorineural hearing impairment0SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM191127910680600857
HP:0000407HP:0000407Sensorineural hearing impairment0SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11714010729607292
HP:0000407HP:0000407Sensorineural hearing impairment0SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM15214021061614725
HP:0000407HP:0000407Sensorineural hearing impairment0SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA13823625566615743
HP:0000407HP:0000407Sensorineural hearing impairment0SIX1 CL E G H649552429ORPHA12010210887601205
HP:0000407HP:0000407Sensorineural hearing impairment0SIX1 CL E G H6495608389Branchiootic syndrome 3608389C1842124OMIM12010210887601205
HP:0000407HP:0000407Sensorineural hearing impairment0SIX1 CL E G H6495605192Deafness, autosomal dominant 23605192C1854594OMIM12010210887601205
HP:0000407HP:0000407Sensorineural hearing impairment0SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM1115910892606326
HP:0000407HP:0000407Sensorineural hearing impairment0SLC17A8 CL E G H246213605583Deafness, autosomal dominant 25605583C1854158OMIM1812520151607557
HP:0000407HP:0000407Sensorineural hearing impairment0SLC19A2 CL E G H1056049827ORPHA15113710938603941
HP:0000407HP:0000407Sensorineural hearing impairment0SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM15113710938603941
HP:0000407HP:0000407Sensorineural hearing impairment0SLC26A4 CL E G H5172705ORPHA15645608818605646
HP:0000407HP:0000407Sensorineural hearing impairment0SLC26A4 CL E G H5172600791Enlarged vestibular aqueduct600791C1863752OMIM15645608818605646
HP:0000407HP:0000407Sensorineural hearing impairment0SLC26A5 CL E G H375611613865Deafness, autosomal recessive 61613865C3151230OMIM17649359604943
HP:0000407HP:0000407Sensorineural hearing impairment0SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM12619023096612373
HP:0000407HP:0000407Sensorineural hearing impairment0SLC39A14 CL E G H23516144755Hyperostosis cranialis interna144755C1840404OMIM1910320858608736
HP:0000407HP:0000407Sensorineural hearing impairment0SLC44A4 CL E G H80736617606DEAFNESS, AUTOSOMAL DOMINANT 72617606C4539886OMIM111913941606107
HP:0000407HP:0000407Sensorineural hearing impairment0SLC4A11 CL E G H839591490Congenital ichtyosiform erythrodermaORPHA19525016438610206
HP:0000407HP:0000407Sensorineural hearing impairment0SLC4A11 CL E G H83959217400Corneal dystrophy and perceptive deafness217400C1857572OMIM19525016438610206
HP:0000407HP:0000407Sensorineural hearing impairment0SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM12726030224607882
HP:0000407HP:0000407Sensorineural hearing impairment0SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM14424316187613350
HP:0000407HP:0000407Sensorineural hearing impairment0SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1810929326615720
HP:0000407HP:0000407Sensorineural hearing impairment0SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA110048411111300040
HP:0000407HP:0000407Sensorineural hearing impairment0SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA1282132468606062
HP:0000407HP:0000407Sensorineural hearing impairment0SMCHD1 CL E G H23347269ORPHA112550029090614982
HP:0000407HP:0000407Sensorineural hearing impairment0SMPX CL E G H23676300066Deafness, X-linked 4300066C1848204OMIM11518511122300226
HP:0000407HP:0000407Sensorineural hearing impairment0SNAI2 CL E G H6591895ORPHA146811094602150
HP:0000407HP:0000407Sensorineural hearing impairment0SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM11352711133604202
HP:0000407HP:0000407Sensorineural hearing impairment0SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13529930859601664
HP:0000407HP:0000407Sensorineural hearing impairment0SOST CL E G H509643152Kuster syndromeORPHA1177013771605740
HP:0000407HP:0000407Sensorineural hearing impairment0SOST CL E G H509643416Mathieu De Broca Bony syndromeORPHA1177013771605740
HP:0000407HP:0000407Sensorineural hearing impairment0SOX10 CL E G H6663895ORPHA115119211190602229
HP:0000407HP:0000407Sensorineural hearing impairment0SOX10 CL E G H6663163746ORPHA115119211190602229
HP:0000407HP:0000407Sensorineural hearing impairment0SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM115119211190602229
HP:0000407HP:0000407Sensorineural hearing impairment0SOX10 CL E G H6663613266Waardenburg syndrome type 4C613266C2750452OMIM115119211190602229
HP:0000407HP:0000407Sensorineural hearing impairment0SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM110510511195184429
HP:0000407HP:0000407Sensorineural hearing impairment0SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM12828618119613940
HP:0000407HP:0000407Sensorineural hearing impairment0SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13915220423609868
HP:0000407HP:0000407Sensorineural hearing impairment0SPTLC1 CL E G H10558162400Neuropathy hereditary sensory and autonomic type 1162400C0020071OMIM11220811277605712
HP:0000407HP:0000407Sensorineural hearing impairment0STRC CL E G H16149794064ORPHA18720816035606440
HP:0000407HP:0000407Sensorineural hearing impairment0STRC CL E G H161497603720Deafness, autosomal recessive 16603720C1863561OMIM18720816035606440
HP:0000407HP:0000407Sensorineural hearing impairment0SUCLA2 CL E G H88031933ORPHA12918911448603921
HP:0000407HP:0000407Sensorineural hearing impairment0SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM12918911448603921
HP:0000407HP:0000407Sensorineural hearing impairment0SUMF1 CL E G H285362585ORPHA15526520376607939
HP:0000407HP:0000407Sensorineural hearing impairment0SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM112818911474185620
HP:0000407HP:0000407Sensorineural hearing impairment0SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM112818911474185620
HP:0000407HP:0000407Sensorineural hearing impairment0TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM135724316612958
HP:0000407HP:0000407Sensorineural hearing impairment0TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM15656429203613577
HP:0000407HP:0000407Sensorineural hearing impairment0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA115911586605842
HP:0000407HP:0000407Sensorineural hearing impairment0TBX22 CL E G H50945921Bone dysplasia corpus callosum agenesisORPHA13018811600300307
HP:0000407HP:0000407Sensorineural hearing impairment0TECTA CL E G H7007601543Deafness, autosomal dominant 12601543C1832187OMIM112042611720602574
HP:0000407HP:0000407Sensorineural hearing impairment0TECTA CL E G H7007603629Deafness, autosomal recessive 21603629C1863655OMIM112042611720602574
HP:0000407HP:0000407Sensorineural hearing impairment0TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM1448211742107580
HP:0000407HP:0000407Sensorineural hearing impairment0THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA117129511799190160
HP:0000407HP:0000407Sensorineural hearing impairment0TMC1 CL E G H117531606705Deafness, autosomal dominant 36606705C1847626OMIM19522316513606706
HP:0000407HP:0000407Sensorineural hearing impairment0TMC1 CL E G H117531600974Deafness, autosomal recessive 7600974C1832978OMIM19522316513606706
HP:0000407HP:0000407Sensorineural hearing impairment0TMPRSS3 CL E G H64699601072Deafness, autosomal recessive 8601072C1832827OMIM18425911877605511
HP:0000407HP:0000407Sensorineural hearing impairment0TNFRSF11B CL E G H4982239000Hyperphosphatasemia with bone disease239000C0268414OMIM12511911909602643
HP:0000407HP:0000407Sensorineural hearing impairment0TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12222921653609507
HP:0000407HP:0000407Sensorineural hearing impairment0TPRN CL E G H286262613307Deafness, autosomal recessive 79613307C2750082OMIM11214026894613354
HP:0000407HP:0000407Sensorineural hearing impairment0TRPV3 CL E G H162514659AmyoplasiaORPHA11727718084607066
HP:0000407HP:0000407Sensorineural hearing impairment0TRPV4 CL E G H59341606071Charcot-Marie-Tooth disease type 2C606071C2079540OMIM18253918083605427
HP:0000407HP:0000407Sensorineural hearing impairment0TSPEAR CL E G H54084614861Deafness, autosomal recessive 98614861C3553932OMIM192031268612920
HP:0000407HP:0000407Sensorineural hearing impairment0TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11612820087608132
HP:0000407HP:0000407Sensorineural hearing impairment0TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA139812406601197
HP:0000407HP:0000407Sensorineural hearing impairment0TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17520812423602280
HP:0000407HP:0000407Sensorineural hearing impairment0TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM1831941160606075
HP:0000407HP:0000407Sensorineural hearing impairment0TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM1953813148131222
HP:0000407HP:0000407Sensorineural hearing impairment0TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA1953813148131222
HP:0000407HP:0000407Sensorineural hearing impairment0TYR CL E G H7299103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM144522612442606933
HP:0000407HP:0000407Sensorineural hearing impairment0UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA1719816808605981
HP:0000407HP:0000407Sensorineural hearing impairment0UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM1719816808605981
HP:0000407HP:0000407Sensorineural hearing impairment0USH1C CL E G H10083231169ORPHA15147712597605242
HP:0000407HP:0000407Sensorineural hearing impairment0USH1C CL E G H10083602092Deafness, autosomal recessive 18602092C1865870OMIM15147712597605242
HP:0000407HP:0000407Sensorineural hearing impairment0USH1C CL E G H10083276900Usher syndrome, type 1276900C1568247OMIM15147712597605242
HP:0000407HP:0000407Sensorineural hearing impairment0USH1G CL E G H124590231169ORPHA13217116356607696
HP:0000407HP:0000407Sensorineural hearing impairment0USH1G CL E G H124590606943Usher syndrome, type 1G606943C1847089OMIM13217116356607696
HP:0000407HP:0000407Sensorineural hearing impairment0USH2A CL E G H7399231178ORPHA11234235412601608400
HP:0000407HP:0000407Sensorineural hearing impairment0USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11234235412601608400
HP:0000407HP:0000407Sensorineural hearing impairment0VHL CL E G H7428892Billet Bear syndromeORPHA1617109712687608537
HP:0000407HP:0000407Sensorineural hearing impairment0VHL CL E G H7428193300Von Hippel-Lindau syndrome193300C0019562OMIM1617109712687608537
HP:0000407HP:0000407Sensorineural hearing impairment0VPS11 CL E G H55823466934ORPHA135414583608549
HP:0000407HP:0000407Sensorineural hearing impairment0WFS1 CL E G H74663463ORPHA139371412762606201
HP:0000407HP:0000407Sensorineural hearing impairment0WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM139371412762606201
HP:0000407HP:0000407Sensorineural hearing impairment0WHRN CL E G H25861231178ORPHA13234816361607928
HP:0000407HP:0000407Sensorineural hearing impairment0WHRN CL E G H25861607084Deafness, autosomal recessive 31607084C1846839OMIM13234816361607928
HP:0000407HP:0000407Sensorineural hearing impairment0XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA15115512814611153
HP:0000407HP:0000407Sensorineural hearing impairment0XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM15115512814611153
HP:0000407HP:0000407Sensorineural hearing impairment0XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA110030712816613208
HP:0000407HP:0000407Sensorineural hearing impairment0XYLT2 CL E G H64132605822Spondyloocular syndrome, autosomal recessive605822C1853925OMIM1135715517608125
HP:0000407HP:0000407Sensorineural hearing impairment0YAP1 CL E G H104131473Congenital articular rigidityORPHA1123816262606608
HP:0000407HP:0000407Sensorineural hearing impairment0ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA13413612877606480
HP:0000407HP:0000407Sensorineural hearing impairment0ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11411220041616454
HP:0000407HP:0000407Sensorineural hearing impairment0ZNF469 CL E G H8462790354ORPHA16964123216612078
HP:0000407HP:0000407Sensorineural hearing impairment0ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1312026498613598
HP:0000407HP:0000407Sensorineural hearing impairment1AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM12120601065
HP:0000407HP:0000407Sensorineural hearing impairment1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11280151134601691
HP:0000407HP:0000407Sensorineural hearing impairment1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM12116115868613599
HP:0000407HP:0000407Sensorineural hearing impairment1ABHD5 CL E G H5109998907ORPHA13915521396604780
HP:0000407HP:0000407Sensorineural hearing impairment1ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM13915521396604780
HP:0000407HP:0000407Sensorineural hearing impairment1ACOX1 CL E G H512971ORPHA126257119609751
HP:0000407HP:0000407Sensorineural hearing impairment1ACTB CL E G H6079107ORPHA165224132102630
HP:0000407HP:0000407Sensorineural hearing impairment1ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM165224132102630
HP:0000407HP:0000407Sensorineural hearing impairment1ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM165224132102630
HP:0000407HP:0000407Sensorineural hearing impairment1ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM120104171102576
HP:0000407HP:0000407Sensorineural hearing impairment1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM11557177104620
HP:0000407HP:0000407Sensorineural hearing impairment1ADGRV1 CL E G H84059231178ORPHA1249147917416602851
HP:0000407HP:0000407Sensorineural hearing impairment1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1911426147615900
HP:0000407HP:0000407Sensorineural hearing impairment1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19642221575608894
HP:0000407HP:0000407Sensorineural hearing impairment1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14116348600253
HP:0000407HP:0000407Sensorineural hearing impairment1ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM11626319358607144
HP:0000407HP:0000407Sensorineural hearing impairment1AMMECR1 CL E G H9949300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis300990C4310810OMIM15181467300195
HP:0000407HP:0000407Sensorineural hearing impairment1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM114204560300629
HP:0000407HP:0000407Sensorineural hearing impairment1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM19320492616003
HP:0000407HP:0000407Sensorineural hearing impairment1ARHGDIA CL E G H396615244Nephrotic syndrome, type 8615244C3808953OMIM1336678601925
HP:0000407HP:0000407Sensorineural hearing impairment1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1715117090616432
HP:0000407HP:0000407Sensorineural hearing impairment1ARID1B CL E G H57492251056ORPHA118857518040614556
HP:0000407HP:0000407Sensorineural hearing impairment1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153517146615407
HP:0000407HP:0000407Sensorineural hearing impairment1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1333694604695
HP:0000407HP:0000407Sensorineural hearing impairment1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1217913210608845
HP:0000407HP:0000407Sensorineural hearing impairment1ARSG CL E G H22901231183ORPHA137324102610008
HP:0000407HP:0000407Sensorineural hearing impairment1ATP1A3 CL E G H4781171ORPHA1122407801182350
HP:0000407HP:0000407Sensorineural hearing impairment1ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1122407801182350
HP:0000407HP:0000407Sensorineural hearing impairment1ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM15233868300197
HP:0000407HP:0000407Sensorineural hearing impairment1ATP6V1B1 CL E G H525267300Renal tubular acidosis with progressive nerve deafness267300C0403554OMIM161160853192132
HP:0000407HP:0000407Sensorineural hearing impairment1ATP6V1B2 CL E G H526124480Deafness, congenital, with onychodystrophy, autosomal dominant124480C2675730OMIM1493854606939
HP:0000407HP:0000407Sensorineural hearing impairment1ATP6V1B2 CL E G H526616455Zimmermann-Laband syndrome 2616455C4225321OMIM1493854606939
HP:0000407HP:0000407Sensorineural hearing impairment1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM1170663886300032
HP:0000407HP:0000407Sensorineural hearing impairment1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM1170663886300032
HP:0000407HP:0000407Sensorineural hearing impairment1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA15187961605681
HP:0000407HP:0000407Sensorineural hearing impairment1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA196277967606151
HP:0000407HP:0000407Sensorineural hearing impairment1BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM1924716695300398
HP:0000407HP:0000407Sensorineural hearing impairment1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM15541520893300485
HP:0000407HP:0000407Sensorineural hearing impairment1BCS1L CL E G H617123ORPHA1371741020603647
HP:0000407HP:0000407Sensorineural hearing impairment1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM1371741020603647
HP:0000407HP:0000407Sensorineural hearing impairment1BCS1L CL E G H617262000Pili torti-deafness syndrome262000C0266006OMIM1371741020603647
HP:0000407HP:0000407Sensorineural hearing impairment1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131935412703607854
HP:0000407HP:0000407Sensorineural hearing impairment1BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM1684901097164757
HP:0000407HP:0000407Sensorineural hearing impairment1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM1684901097164757
HP:0000407HP:0000407Sensorineural hearing impairment1BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM12411416512606412
HP:0000407HP:0000407Sensorineural hearing impairment1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM12483711122609019
HP:0000407HP:0000407Sensorineural hearing impairment1BTK CL E G H69547ORPHA19104211133300300
HP:0000407HP:0000407Sensorineural hearing impairment1C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11711927232614477
HP:0000407HP:0000407Sensorineural hearing impairment1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110851375114760
HP:0000407HP:0000407Sensorineural hearing impairment1CASK CL E G H8573163937ORPHA11194461497300172
HP:0000407HP:0000407Sensorineural hearing impairment1CATSPER2 CL E G H11715594064ORPHA178918810607249
HP:0000407HP:0000407Sensorineural hearing impairment1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM11330529426612753
HP:0000407HP:0000407Sensorineural hearing impairment1CCDC50 CL E G H152137607453Deafness, autosomal dominant 44607453C1843895OMIM1410218111611051
HP:0000407HP:0000407Sensorineural hearing impairment1CD151 CL E G H977609057Nephropathy with pretibial epidermolysis bullosa and deafness609057C1836823OMIM16451630602243
HP:0000407HP:0000407Sensorineural hearing impairment1CD164 CL E G H8763616969Deafness, autosomal dominant 66616969C4283893OMIM11311632603356
HP:0000407HP:0000407Sensorineural hearing impairment1CDH23 CL E G H64072231169ORPHA1361143713733605516
HP:0000407HP:0000407Sensorineural hearing impairment1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14934614550609502
HP:0000407HP:0000407Sensorineural hearing impairment1CEP78 CL E G H84131231183ORPHA11015525740617110
HP:0000407HP:0000407Sensorineural hearing impairment1CEP78 CL E G H84131617236Cone-rod dystrophy and hearing loss617236C4310657OMIM11015525740617110
HP:0000407HP:0000407Sensorineural hearing impairment1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13925021699608381
HP:0000407HP:0000407Sensorineural hearing impairment1CHD7 CL E G H55636612370Kallmann syndrome 5612370C2675302OMIM1884126620626608892
HP:0000407HP:0000407Sensorineural hearing impairment1CHN1 CL E G H1123233D ercole syndromeORPHA1111111943118423
HP:0000407HP:0000407Sensorineural hearing impairment1CIB2 CL E G H10518231169ORPHA1186524579605564
HP:0000407HP:0000407Sensorineural hearing impairment1CISD2 CL E G H4938563463ORPHA142324212611507
HP:0000407HP:0000407Sensorineural hearing impairment1CISD2 CL E G H493856604928Wolfram syndrome 2604928C1858028OMIM142324212611507
HP:0000407HP:0000407Sensorineural hearing impairment1CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM161052026602024
HP:0000407HP:0000407Sensorineural hearing impairment1CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM11521662027602023
HP:0000407HP:0000407Sensorineural hearing impairment1CLDN14 CL E G H23562614035Deafness, autosomal recessive 29614035C3279660OMIM1131422035605608
HP:0000407HP:0000407Sensorineural hearing impairment1CLIC5 CL E G H53405616042Deafness, autosomal recessive 103616042C4015050OMIM124813517607293
HP:0000407HP:0000407Sensorineural hearing impairment1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA111742586603432
HP:0000407HP:0000407Sensorineural hearing impairment1CLRN1 CL E G H7401231183ORPHA13917512605606397
HP:0000407HP:0000407Sensorineural hearing impairment1CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13917512605606397
HP:0000407HP:0000407Sensorineural hearing impairment1CLRN1 CL E G H7401276902Usher syndrome, type 3A276902C1568248OMIM13917512605606397
HP:0000407HP:0000407Sensorineural hearing impairment1CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1331672148123825
HP:0000407HP:0000407Sensorineural hearing impairment1CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1624202151600724
HP:0000407HP:0000407Sensorineural hearing impairment1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM171925716615623
HP:0000407HP:0000407Sensorineural hearing impairment1COCH CL E G H1690618094DEAFNESS, AUTOSOMAL RECESSIVE 110618094CN253427OMIM1291202180603196
HP:0000407HP:0000407Sensorineural hearing impairment1COL11A1 CL E G H130190654ORPHA11065602186120280
HP:0000407HP:0000407Sensorineural hearing impairment1COL11A1 CL E G H1301250984ORPHA11065602186120280
HP:0000407HP:0000407Sensorineural hearing impairment1COL11A1 CL E G H1301440354ORPHA11065602186120280
HP:0000407HP:0000407Sensorineural hearing impairment1COL11A1 CL E G H1301560ORPHA11065602186120280
HP:0000407HP:0000407Sensorineural hearing impairment1COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM11065602186120280
HP:0000407HP:0000407Sensorineural hearing impairment1COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM11065602186120280
HP:0000407HP:0000407Sensorineural hearing impairment1COL11A2 CL E G H13021427ORPHA1594712187120290
HP:0000407HP:0000407Sensorineural hearing impairment1COL11A2 CL E G H1302166100ORPHA1594712187120290
HP:0000407HP:0000407Sensorineural hearing impairment1COL11A2 CL E G H1302601868Deafness, autosomal dominant 13601868C1866095OMIM1594712187120290
HP:0000407HP:0000407Sensorineural hearing impairment1COL11A2 CL E G H1302609706Deafness, autosomal recessive 53609706C1864746OMIM1594712187120290
HP:0000407HP:0000407Sensorineural hearing impairment1COL11A2 CL E G H1302215150Otospondylomegaepiphyseal dysplasia215150C0432210OMIM1594712187120290
HP:0000407HP:0000407Sensorineural hearing impairment1COL11A2 CL E G H1302184840Stickler syndrome, type 3184840C1861481OMIM1594712187120290
HP:0000407HP:0000407Sensorineural hearing impairment1COL25A1 CL E G H84570233D ercole syndromeORPHA144118603610004
HP:0000407HP:0000407Sensorineural hearing impairment1COL2A1 CL E G H128090653ORPHA15707312200120140
HP:0000407HP:0000407Sensorineural hearing impairment1COL2A1 CL E G H1280271700Spondyloperipheral dysplasia271700C0796173OMIM15707312200120140
HP:0000407HP:0000407Sensorineural hearing impairment1COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM15707312200120140
HP:0000407HP:0000407Sensorineural hearing impairment1COL4A3 CL E G H1285104200Alport syndrome, autosomal dominant104200C1567743OMIM12726132204120070
HP:0000407HP:0000407Sensorineural hearing impairment1COL4A5 CL E G H1287301050Alport syndrome, X-linked recessive301050C1567742OMIM1100013572207303630
HP:0000407HP:0000407Sensorineural hearing impairment1COL9A1 CL E G H1297250984ORPHA162812217120210
HP:0000407HP:0000407Sensorineural hearing impairment1COL9A1 CL E G H1297614134Stickler syndrome, type 4614134C3279941OMIM162812217120210
HP:0000407HP:0000407Sensorineural hearing impairment1COL9A2 CL E G H1298250984ORPHA1132152218120260
HP:0000407HP:0000407Sensorineural hearing impairment1COL9A2 CL E G H1298614284Stickler syndrome, type 5614284C3280342OMIM1132152218120260
HP:0000407HP:0000407Sensorineural hearing impairment1COL9A3 CL E G H1299250984ORPHA1171842219120270
HP:0000407HP:0000407Sensorineural hearing impairment1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM13310225223609825
HP:0000407HP:0000407Sensorineural hearing impairment1COQ6 CL E G H51004614650Coenzyme Q10 deficiency, primary, 6614650C3553349OMIM1168220233614647
HP:0000407HP:0000407Sensorineural hearing impairment1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1132082260602125
HP:0000407HP:0000407Sensorineural hearing impairment1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM1132082260602125
HP:0000407HP:0000407Sensorineural hearing impairment1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111428216614478
HP:0000407HP:0000407Sensorineural hearing impairment1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM151882263603646
HP:0000407HP:0000407Sensorineural hearing impairment1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1112726970614698
HP:0000407HP:0000407Sensorineural hearing impairment1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13342280124089
HP:0000407HP:0000407Sensorineural hearing impairment1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM11122294123870
HP:0000407HP:0000407Sensorineural hearing impairment1CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13475442343604210
HP:0000407HP:0000407Sensorineural hearing impairment1CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11072982383602225
HP:0000407HP:0000407Sensorineural hearing impairment1CRYM CL E G H1428616357Deafness, autosomal dominant 40616357C4084708OMIM14542418123740
HP:0000407HP:0000407Sensorineural hearing impairment1DAB1 CL E G H1600363710ORPHA12482661603448
HP:0000407HP:0000407Sensorineural hearing impairment1DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM11817525784612515
HP:0000407HP:0000407Sensorineural hearing impairment1DCDC2 CL E G H51473610212Deafness, autosomal recessive 66610212C1857750OMIM11110618141605755
HP:0000407HP:0000407Sensorineural hearing impairment1DCHS1 CL E G H8642601390601390601390OMIM12418013681603057
HP:0000407HP:0000407Sensorineural hearing impairment1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA117672718600811
HP:0000407HP:0000407Sensorineural hearing impairment1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM1641222858601465
HP:0000407HP:0000407Sensorineural hearing impairment1DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1812220603608172
HP:0000407HP:0000407Sensorineural hearing impairment1DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1214117211605584
HP:0000407HP:0000407Sensorineural hearing impairment1DIABLO CL E G H56616614152Deafness, autosomal dominant 64614152C3279948OMIM124821528605219
HP:0000407HP:0000407Sensorineural hearing impairment1DIAPH1 CL E G H1729124900Deafness, autosomal dominant 1124900C1852282OMIM1153592876602121
HP:0000407HP:0000407Sensorineural hearing impairment1DIAPH3 CL E G H81624609129Auditory neuropathy, autosomal dominant, 1609129C1836743OMIM1912615480614567
HP:0000407HP:0000407Sensorineural hearing impairment1DLX5 CL E G H1749220600Split-hand/foot malformation 1 with sensorineural hearing loss220600C1857344OMIM111272918600028
HP:0000407HP:0000407Sensorineural hearing impairment1DMP1 CL E G H1758289176ORPHA1111072932600980
HP:0000407HP:0000407Sensorineural hearing impairment1DMP1 CL E G H1758241520Autosomal recessive hypophosphatemic vitamin D refractory rickets241520C0342643OMIM1111072932600980
HP:0000407HP:0000407Sensorineural hearing impairment1DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM14809439601184
HP:0000407HP:0000407Sensorineural hearing impairment1DNMT1 CL E G H1786314404ORPHA1235102976126375
HP:0000407HP:0000407Sensorineural hearing impairment1DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM1235102976126375
HP:0000407HP:0000407Sensorineural hearing impairment1DNMT1 CL E G H1786614116Hereditary sensory neuropathy type IE614116C3279885OMIM1235102976126375
HP:0000407HP:0000407Sensorineural hearing impairment1DUX4 CL E G H100288687269ORPHA150800606009
HP:0000407HP:0000407Sensorineural hearing impairment1EDN3 CL E G H1908613265Waardenburg syndrome type 4B613265C2750457OMIM1211173178131242
HP:0000407HP:0000407Sensorineural hearing impairment1EDNRB CL E G H1910895ORPHA1701913180131244
HP:0000407HP:0000407Sensorineural hearing impairment1EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM170