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

 Sister Nodes: 
..expandAminoglycoside-induced hearing loss (HP:0011975) help
..expandConductive hearing impairment (HP:0000405) help
..expandHigh-frequency hearing impairment (HP:0005101) help
..expandLow-frequency hearing loss (HP:0008542) help
..expandMid-frequency hearing loss (HP:0012781) help
..expandMild hearing impairment (HP:0012712) help
..expandModerate hearing impairment (HP:0012713) help
..expandProfound hearing impairment (HP:0012715) help
..expandProgressive hearing impairment (HP:0001730) help
..expandSevere hearing impairment (HP:0012714) help
..expandTransient hearing impairment (HP:0012779) help
..expandUnilateral deafness (HP:0009900) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000407HP:0000407Sensorineural hearing impairment0AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM120601065
HP:0000407HP:0000407Sensorineural hearing impairment0ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1323334601691
HP:0000407HP:0000407Sensorineural hearing impairment0ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0000407HP:0000407Sensorineural hearing impairment0ABHD5 CL E G H5109998907ORPHA129121396604780
HP:0000407HP:0000407Sensorineural hearing impairment0ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM129121396604780
HP:0000407HP:0000407Sensorineural hearing impairment0ACOX1 CL E G H512971ORPHA1665119609751
HP:0000407HP:0000407Sensorineural hearing impairment0ACTB CL E G H6079107ORPHA1512132102630
HP:0000407HP:0000407Sensorineural hearing impairment0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1512132102630
HP:0000407HP:0000407Sensorineural hearing impairment0ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM1512132102630
HP:0000407HP:0000407Sensorineural hearing impairment0ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1241171102576
HP:0000407HP:0000407Sensorineural hearing impairment0ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM1153177104620
HP:0000407HP:0000407Sensorineural hearing impairment0ADGRV1 CL E G H84059231178ORPHA1456117416602851
HP:0000407HP:0000407Sensorineural hearing impairment0AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA160126147615900
HP:0000407HP:0000407Sensorineural hearing impairment0AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1119421575608894
HP:0000407HP:0000407Sensorineural hearing impairment0AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1479348600253
HP:0000407HP:0000407Sensorineural hearing impairment0ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM165919358607144
HP:0000407HP:0000407Sensorineural hearing impairment0AMMECR1 CL E G H9949300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis300990C4310810OMIM1218467300195
HP:0000407HP:0000407Sensorineural hearing impairment0AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0000407HP:0000407Sensorineural hearing impairment0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0000407HP:0000407Sensorineural hearing impairment0ARHGDIA CL E G H396615244Nephrotic syndrome, type 8615244C3808953OMIM165678601925
HP:0000407HP:0000407Sensorineural hearing impairment0ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA191217090616432
HP:0000407HP:0000407Sensorineural hearing impairment0ARID1B CL E G H57492251056ORPHA1175918040614556
HP:0000407HP:0000407Sensorineural hearing impairment0ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111317146615407
HP:0000407HP:0000407Sensorineural hearing impairment0ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1137694604695
HP:0000407HP:0000407Sensorineural hearing impairment0ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120113210608845
HP:0000407HP:0000407Sensorineural hearing impairment0ARSG CL E G H22901231183ORPHA141824102610008
HP:0000407HP:0000407Sensorineural hearing impairment0ATP1A3 CL E G H4781171ORPHA1993801182350
HP:0000407HP:0000407Sensorineural hearing impairment0ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0000407HP:0000407Sensorineural hearing impairment0ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1407868300197
HP:0000407HP:0000407Sensorineural hearing impairment0ATP6V1B1 CL E G H525267300Renal tubular acidosis with progressive nerve deafness267300C0403554OMIM1525853192132
HP:0000407HP:0000407Sensorineural hearing impairment0ATP6V1B2 CL E G H526124480Deafness, congenital, with onychodystrophy, autosomal dominant124480C2675730OMIM1167854606939
HP:0000407HP:0000407Sensorineural hearing impairment0ATP6V1B2 CL E G H526616455Zimmermann-Laband syndrome 2616455C4225321OMIM1167854606939
HP:0000407HP:0000407Sensorineural hearing impairment0ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0000407HP:0000407Sensorineural hearing impairment0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11925886300032
HP:0000407HP:0000407Sensorineural hearing impairment0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0000407HP:0000407Sensorineural hearing impairment0BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1894967606151
HP:0000407HP:0000407Sensorineural hearing impairment0BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM137516695300398
HP:0000407HP:0000407Sensorineural hearing impairment0BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM168820893300485
HP:0000407HP:0000407Sensorineural hearing impairment0BCS1L CL E G H617123ORPHA14131020603647
HP:0000407HP:0000407Sensorineural hearing impairment0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0000407HP:0000407Sensorineural hearing impairment0BCS1L CL E G H617262000Pili torti-deafness syndrome262000C0266006OMIM14131020603647
HP:0000407HP:0000407Sensorineural hearing impairment0BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA179312703607854
HP:0000407HP:0000407Sensorineural hearing impairment0BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM111821097164757
HP:0000407HP:0000407Sensorineural hearing impairment0BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM111821097164757
HP:0000407HP:0000407Sensorineural hearing impairment0BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM130316512606412
HP:0000407HP:0000407Sensorineural hearing impairment0BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM15981122609019
HP:0000407HP:0000407Sensorineural hearing impairment0BTK CL E G H69547ORPHA16751133300300
HP:0000407HP:0000407Sensorineural hearing impairment0C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127232614477
HP:0000407HP:0000407Sensorineural hearing impairment0CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12831375114760
HP:0000407HP:0000407Sensorineural hearing impairment0CASK CL E G H8573163937ORPHA18441497300172
HP:0000407HP:0000407Sensorineural hearing impairment0CATSPER2 CL E G H11715594064ORPHA114018810607249
HP:0000407HP:0000407Sensorineural hearing impairment0CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM154029426612753
HP:0000407HP:0000407Sensorineural hearing impairment0CCDC50 CL E G H152137607453Deafness, autosomal dominant 44607453C1843895OMIM125618111611051
HP:0000407HP:0000407Sensorineural hearing impairment0CD151 CL E G H977609057Nephropathy with pretibial epidermolysis bullosa and deafness609057C1836823OMIM11671630602243
HP:0000407HP:0000407Sensorineural hearing impairment0CD164 CL E G H8763616969Deafness, autosomal dominant 66616969C4283893OMIM11071632603356
HP:0000407HP:0000407Sensorineural hearing impairment0CDH23 CL E G H64072231169ORPHA1452213733605516
HP:0000407HP:0000407Sensorineural hearing impairment0CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA189014550609502
HP:0000407HP:0000407Sensorineural hearing impairment0CEP78 CL E G H84131231183ORPHA155925740617110
HP:0000407HP:0000407Sensorineural hearing impairment0CEP78 CL E G H84131617236Cone-rod dystrophy and hearing loss617236C4310657OMIM155925740617110
HP:0000407HP:0000407Sensorineural hearing impairment0CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178221699608381
HP:0000407HP:0000407Sensorineural hearing impairment0CHD7 CL E G H55636612370Kallmann syndrome 5612370C2675302OMIM1293020626608892
HP:0000407HP:0000407Sensorineural hearing impairment0CHN1 CL E G H1123233D ercole syndromeORPHA11351943118423
HP:0000407HP:0000407Sensorineural hearing impairment0CIB2 CL E G H10518231169ORPHA122724579605564
HP:0000407HP:0000407Sensorineural hearing impairment0CISD2 CL E G H4938563463ORPHA17124212611507
HP:0000407HP:0000407Sensorineural hearing impairment0CISD2 CL E G H493856604928Wolfram syndrome 2604928C1858028OMIM17124212611507
HP:0000407HP:0000407Sensorineural hearing impairment0CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM12302026602024
HP:0000407HP:0000407Sensorineural hearing impairment0CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM14782027602023
HP:0000407HP:0000407Sensorineural hearing impairment0CLDN14 CL E G H23562614035Deafness, autosomal recessive 29614035C3279660OMIM11972035605608
HP:0000407HP:0000407Sensorineural hearing impairment0CLIC5 CL E G H53405616042Deafness, autosomal recessive 103616042C4015050OMIM112913517607293
HP:0000407HP:0000407Sensorineural hearing impairment0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0000407HP:0000407Sensorineural hearing impairment0CLRN1 CL E G H7401231183ORPHA135812605606397
HP:0000407HP:0000407Sensorineural hearing impairment0CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA135812605606397
HP:0000407HP:0000407Sensorineural hearing impairment0CLRN1 CL E G H7401276902Usher syndrome, type 3A276902C1568248OMIM135812605606397
HP:0000407HP:0000407Sensorineural hearing impairment0CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14562148123825
HP:0000407HP:0000407Sensorineural hearing impairment0CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111792151600724
HP:0000407HP:0000407Sensorineural hearing impairment0COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0000407HP:0000407Sensorineural hearing impairment0COCH CL E G H1690618094DEAFNESS, AUTOSOMAL RECESSIVE 110618094CN253427OMIM12422180603196
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A1 CL E G H1301560ORPHA122532186120280
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A1 CL E G H130190654ORPHA122532186120280
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A1 CL E G H1301250984ORPHA122532186120280
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A1 CL E G H1301440354ORPHA122532186120280
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM122532186120280
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM122532186120280
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A2 CL E G H13021427ORPHA117592187120290
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A2 CL E G H1302166100ORPHA117592187120290
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A2 CL E G H1302601868Deafness, autosomal dominant 13601868C1866095OMIM117592187120290
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A2 CL E G H1302609706Deafness, autosomal recessive 53609706C1864746OMIM117592187120290
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A2 CL E G H1302215150Otospondylomegaepiphyseal dysplasia215150C0432210OMIM117592187120290
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A2 CL E G H1302184840Stickler syndrome, type 3184840C1861481OMIM117592187120290
HP:0000407HP:0000407Sensorineural hearing impairment0COL25A1 CL E G H84570233D ercole syndromeORPHA17818603610004
HP:0000407HP:0000407Sensorineural hearing impairment0COL2A1 CL E G H128090653ORPHA123802200120140
HP:0000407HP:0000407Sensorineural hearing impairment0COL2A1 CL E G H1280271700Spondyloperipheral dysplasia271700C0796173OMIM123802200120140
HP:0000407HP:0000407Sensorineural hearing impairment0COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM123802200120140
HP:0000407HP:0000407Sensorineural hearing impairment0COL4A3 CL E G H1285104200Alport syndrome, autosomal dominant104200C1567743OMIM120402204120070
HP:0000407HP:0000407Sensorineural hearing impairment0COL4A5 CL E G H1287301050Alport syndrome, X-linked recessive301050C1567742OMIM121612207303630
HP:0000407HP:0000407Sensorineural hearing impairment0COL9A1 CL E G H1297250984ORPHA111302217120210
HP:0000407HP:0000407Sensorineural hearing impairment0COL9A1 CL E G H1297614134Stickler syndrome, type 4614134C3279941OMIM111302217120210
HP:0000407HP:0000407Sensorineural hearing impairment0COL9A2 CL E G H1298250984ORPHA18322218120260
HP:0000407HP:0000407Sensorineural hearing impairment0COL9A2 CL E G H1298614284Stickler syndrome, type 5614284C3280342OMIM18322218120260
HP:0000407HP:0000407Sensorineural hearing impairment0COL9A3 CL E G H1299250984ORPHA112412219120270
HP:0000407HP:0000407Sensorineural hearing impairment0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0000407HP:0000407Sensorineural hearing impairment0COQ6 CL E G H51004614650Coenzyme Q10 deficiency, primary, 6614650C3553349OMIM127320233614647
HP:0000407HP:0000407Sensorineural hearing impairment0COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0000407HP:0000407Sensorineural hearing impairment0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0000407HP:0000407Sensorineural hearing impairment0COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0000407HP:0000407Sensorineural hearing impairment0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0000407HP:0000407Sensorineural hearing impairment0COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0000407HP:0000407Sensorineural hearing impairment0COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0000407HP:0000407Sensorineural hearing impairment0COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0000407HP:0000407Sensorineural hearing impairment0CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA116332343604210
HP:0000407HP:0000407Sensorineural hearing impairment0CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14992383602225
HP:0000407HP:0000407Sensorineural hearing impairment0CRYM CL E G H1428616357Deafness, autosomal dominant 40616357C4084708OMIM11152418123740
HP:0000407HP:0000407Sensorineural hearing impairment0DAB1 CL E G H1600363710ORPHA11072661603448
HP:0000407HP:0000407Sensorineural hearing impairment0DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0000407HP:0000407Sensorineural hearing impairment0DCDC2 CL E G H51473610212Deafness, autosomal recessive 66610212C1857750OMIM126118141605755
HP:0000407HP:0000407Sensorineural hearing impairment0DCHS1 CL E G H8642601390601390601390OMIM1120513681603057
HP:0000407HP:0000407Sensorineural hearing impairment0DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11422718600811
HP:0000407HP:0000407Sensorineural hearing impairment0DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM12392858601465
HP:0000407HP:0000407Sensorineural hearing impairment0DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143420603608172
HP:0000407HP:0000407Sensorineural hearing impairment0DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA176417211605584
HP:0000407HP:0000407Sensorineural hearing impairment0DIABLO CL E G H56616614152Deafness, autosomal dominant 64614152C3279948OMIM112821528605219
HP:0000407HP:0000407Sensorineural hearing impairment0DIAPH1 CL E G H1729124900Deafness, autosomal dominant 1124900C1852282OMIM112212876602121
HP:0000407HP:0000407Sensorineural hearing impairment0DIAPH3 CL E G H81624609129Auditory neuropathy, autosomal dominant, 1609129C1836743OMIM141515480614567
HP:0000407HP:0000407Sensorineural hearing impairment0DLX5 CL E G H1749220600Split-hand/foot malformation 1 with sensorineural hearing loss220600C1857344OMIM1582918600028
HP:0000407HP:0000407Sensorineural hearing impairment0DMP1 CL E G H1758289176ORPHA12092932600980
HP:0000407HP:0000407Sensorineural hearing impairment0DMP1 CL E G H1758241520Autosomal recessive hypophosphatemic vitamin D refractory rickets241520C0342643OMIM12092932600980
HP:0000407HP:0000407Sensorineural hearing impairment0DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0000407HP:0000407Sensorineural hearing impairment0DNMT1 CL E G H1786314404ORPHA111962976126375
HP:0000407HP:0000407Sensorineural hearing impairment0DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0000407HP:0000407Sensorineural hearing impairment0DNMT1 CL E G H1786614116Hereditary sensory neuropathy type IE614116C3279885OMIM111962976126375
HP:0000407HP:0000407Sensorineural hearing impairment0DUX4 CL E G H100288687269ORPHA1250800606009
HP:0000407HP:0000407Sensorineural hearing impairment0EDN3 CL E G H1908613265Waardenburg syndrome type 4B613265C2750457OMIM11703178131242
HP:0000407HP:0000407Sensorineural hearing impairment0EDNRB CL E G H1910895ORPHA13163180131244
HP:0000407HP:0000407Sensorineural hearing impairment0EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM13163180131244
HP:0000407HP:0000407Sensorineural hearing impairment0EFNB1 CL E G H19471520ORPHA12573226300035
HP:0000407HP:0000407Sensorineural hearing impairment0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0000407HP:0000407Sensorineural hearing impairment0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0000407HP:0000407Sensorineural hearing impairment0ENPP1 CL E G H5167289176ORPHA15893356173335
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC1 CL E G H20671466ORPHA11613433126380
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC2 CL E G H20681466ORPHA115723434126340
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA115723434126340
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA15233435133510
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM15233435133510
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA17263436133520
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC5 CL E G H20731466ORPHA14913437133530
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA14913437133530
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC6 CL E G H20741466ORPHA116453438609413
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM116453438609413
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM116453438609413
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM14843439609412
HP:0000407HP:0000407Sensorineural hearing impairment0ESPN CL E G H83715609006Deafness, autosomal recessive 36, with or without vestibular involvement609006C1837007OMIM143013281606351
HP:0000407HP:0000407Sensorineural hearing impairment0ESRRB CL E G H2103608565Deafness, autosomal recessive 35608565C1837857OMIM12553473602167
HP:0000407HP:0000407Sensorineural hearing impairment0EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM127717097602238
HP:0000407HP:0000407Sensorineural hearing impairment0EYA1 CL E G H213852429ORPHA15133519601653
HP:0000407HP:0000407Sensorineural hearing impairment0EYA1 CL E G H2138602588Branchiootic syndrome602588C1865143OMIM15133519601653
HP:0000407HP:0000407Sensorineural hearing impairment0EYA4 CL E G H2070601316Deafness, autosomal dominant 10601316C1832476OMIM18373522603550
HP:0000407HP:0000407Sensorineural hearing impairment0EYA4 CL E G H2070605362Dilated cardiomyopathy 1J605362C1854368OMIM18373522603550
HP:0000407HP:0000407Sensorineural hearing impairment0EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1383021555612424
HP:0000407HP:0000407Sensorineural hearing impairment0FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA169925808613596
HP:0000407HP:0000407Sensorineural hearing impairment0FAS CL E G H3553437ORPHA138711920134637
HP:0000407HP:0000407Sensorineural hearing impairment0FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0000407HP:0000407Sensorineural hearing impairment0FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM1219423109612411
HP:0000407HP:0000407Sensorineural hearing impairment0FGF3 CL E G H224890024ORPHA11073681164950
HP:0000407HP:0000407Sensorineural hearing impairment0FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM19363688136350
HP:0000407HP:0000407Sensorineural hearing impairment0FGFR3 CL E G H226153271ORPHA19163690134934
HP:0000407HP:0000407Sensorineural hearing impairment0FGFR3 CL E G H2261610474Camptodactyly, tall stature, and hearing loss syndrome610474C1864852OMIM19163690134934
HP:0000407HP:0000407Sensorineural hearing impairment0FGFR3 CL E G H2261602849Muenke syndrome602849C1864436OMIM19163690134934
HP:0000407HP:0000407Sensorineural hearing impairment0FKBP14 CL E G H55033300179ORPHA122018625614505
HP:0000407HP:0000407Sensorineural hearing impairment0FLNA CL E G H23161826Dexamethasone sensitive hypertensionORPHA130333754300017
HP:0000407HP:0000407Sensorineural hearing impairment0FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM130333754300017
HP:0000407HP:0000407Sensorineural hearing impairment0FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM116243755603381
HP:0000407HP:0000407Sensorineural hearing impairment0FOXC1 CL E G H2296602482Axenfeld-Rieger syndrome type 3602482C2678503OMIM15573800601090
HP:0000407HP:0000407Sensorineural hearing impairment0FOXI1 CL E G H2299705ORPHA11533815601093
HP:0000407HP:0000407Sensorineural hearing impairment0FOXI1 CL E G H2299600791Enlarged vestibular aqueduct600791C1863752OMIM11533815601093
HP:0000407HP:0000407Sensorineural hearing impairment0FRG1 CL E G H2483269ORPHA11363954601278
HP:0000407HP:0000407Sensorineural hearing impairment0FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM11363954601278
HP:0000407HP:0000407Sensorineural hearing impairment0FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15803960607643
HP:0000407HP:0000407Sensorineural hearing impairment0FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0000407HP:0000407Sensorineural hearing impairment0GAB1 CL E G H2549605428Deafness, autosomal recessive 26605428C1854275OMIM1654066604439
HP:0000407HP:0000407Sensorineural hearing impairment0GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0000407HP:0000407Sensorineural hearing impairment0GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA113144171137295
HP:0000407HP:0000407Sensorineural hearing impairment0GDF5 CL E G H82003250ORPHA12454220601146
HP:0000407HP:0000407Sensorineural hearing impairment0GFER CL E G H2671613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay613076C2751320OMIM12004236600924
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H2706477ORPHA15714284121011
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H2706494ORPHA15714284121011
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H27062698ORPHA15714284121011
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H2706601544Deafness, autosomal dominant 3a601544C2675750OMIM15714284121011
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H2706220290Deafness, autosomal recessive 1A220290C2673759OMIM15714284121011
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H27062202Exostoses anetodermia brachydactyly type EORPHA15714284121011
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H2706602540Hystrix-like ichthyosis with deafness602540C1865234OMIM15714284121011
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H2706148210Keratitis-ichthyosis-deafness syndrome, autosomal dominant148210C1835678OMIM15714284121011
HP:0000407HP:0000407Sensorineural hearing impairment0GJB3 CL E G H2707220290Deafness, autosomal recessive 1A220290C2673759OMIM11954285603324
HP:0000407HP:0000407Sensorineural hearing impairment0GJB6 CL E G H10804477ORPHA12564288604418
HP:0000407HP:0000407Sensorineural hearing impairment0GJB6 CL E G H10804220290Deafness, autosomal recessive 1A220290C2673759OMIM12564288604418
HP:0000407HP:0000407Sensorineural hearing impairment0GJC2 CL E G H57165320401ORPHA132317494608803
HP:0000407HP:0000407Sensorineural hearing impairment0GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM132317494608803
HP:0000407HP:0000407Sensorineural hearing impairment0GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM136422932615320
HP:0000407HP:0000407Sensorineural hearing impairment0GRHL2 CL E G H79977608641Deafness, autosomal dominant 28608641C1837640OMIM12372799608576
HP:0000407HP:0000407Sensorineural hearing impairment0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0000407HP:0000407Sensorineural hearing impairment0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0000407HP:0000407Sensorineural hearing impairment0GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12154679602275
HP:0000407HP:0000407Sensorineural hearing impairment0GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM110484689600179
HP:0000407HP:0000407Sensorineural hearing impairment0HACE1 CL E G H57531464282ORPHA122721033610876
HP:0000407HP:0000407Sensorineural hearing impairment0HARS CL E G H3035231183ORPHA14816142810
HP:0000407HP:0000407Sensorineural hearing impairment0HARS2 CL E G H23438614926Perrault syndrome 2614926C3554105OMIM11984817600783
HP:0000407HP:0000407Sensorineural hearing impairment0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0000407HP:0000407Sensorineural hearing impairment0HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1104926527610453
HP:0000407HP:0000407Sensorineural hearing impairment0HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11435099142955
HP:0000407HP:0000407Sensorineural hearing impairment0HOXA11 CL E G H3207605432Radioulnar synostosis with amegakaryocytic thrombocytopenia605432C1854273OMIM1715101142958
HP:0000407HP:0000407Sensorineural hearing impairment0HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1445111142968
HP:0000407HP:0000407Sensorineural hearing impairment0HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0000407HP:0000407Sensorineural hearing impairment0HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM19835213601860
HP:0000407HP:0000407Sensorineural hearing impairment0IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM146429685612801
HP:0000407HP:0000407Sensorineural hearing impairment0IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12995385604526
HP:0000407HP:0000407Sensorineural hearing impairment0IDUA CL E G H342593476ORPHA117885391252800
HP:0000407HP:0000407Sensorineural hearing impairment0IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1168629077614620
HP:0000407HP:0000407Sensorineural hearing impairment0IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1135630391607386
HP:0000407HP:0000407Sensorineural hearing impairment0IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA139020606600595
HP:0000407HP:0000407Sensorineural hearing impairment0IGBP1 CL E G H347652055ORPHA11625461300139
HP:0000407HP:0000407Sensorineural hearing impairment0IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM11625461300139
HP:0000407HP:0000407Sensorineural hearing impairment0IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM11975464147440
HP:0000407HP:0000407Sensorineural hearing impairment0ILDR1 CL E G H286676609646Deafness, autosomal recessive 42609646C1864818OMIM123728741609739
HP:0000407HP:0000407Sensorineural hearing impairment0IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15426052146690
HP:0000407HP:0000407Sensorineural hearing impairment0IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA190918362607056
HP:0000407HP:0000407Sensorineural hearing impairment0IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM110414361606195
HP:0000407HP:0000407Sensorineural hearing impairment0KCNJ10 CL E G H3766705ORPHA13816256602208
HP:0000407HP:0000407Sensorineural hearing impairment0KCNJ10 CL E G H3766199343ORPHA13816256602208
HP:0000407HP:0000407Sensorineural hearing impairment0KCNJ10 CL E G H3766600791Enlarged vestibular aqueduct600791C1863752OMIM13816256602208
HP:0000407HP:0000407Sensorineural hearing impairment0KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0000407HP:0000407Sensorineural hearing impairment0KDM6A CL E G H74032322ORPHA191612637300128
HP:0000407HP:0000407Sensorineural hearing impairment0KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1132722219613344
HP:0000407HP:0000407Sensorineural hearing impairment0KITLG CL E G H4254895ORPHA11006343184745
HP:0000407HP:0000407Sensorineural hearing impairment0KITLG CL E G H4254616697Deafness, autosomal dominant 69616697C4225241OMIM11006343184745
HP:0000407HP:0000407Sensorineural hearing impairment0KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141615865615757
HP:0000407HP:0000407Sensorineural hearing impairment0KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA133715646611119
HP:0000407HP:0000407Sensorineural hearing impairment0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0000407HP:0000407Sensorineural hearing impairment0KMT2D CL E G H80852322ORPHA143237133602113
HP:0000407HP:0000407Sensorineural hearing impairment0LHX3 CL E G H8022231720ORPHA14806595600577
HP:0000407HP:0000407Sensorineural hearing impairment0LHX3 CL E G H8022221750Pituitary hormone deficiency, combined 3221750C3489787OMIM14806595600577
HP:0000407HP:0000407Sensorineural hearing impairment0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0000407HP:0000407Sensorineural hearing impairment0LMNA CL E G H4000740Aortic arch interruptionORPHA118146636150330
HP:0000407HP:0000407Sensorineural hearing impairment0LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM15506654602575
HP:0000407HP:0000407Sensorineural hearing impairment0LONP1 CL E G H93611458ORPHA17499479605490
HP:0000407HP:0000407Sensorineural hearing impairment0LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12426685604863
HP:0000407HP:0000407Sensorineural hearing impairment0LRP2 CL E G H40362143Junctional epidermolysis bullosa inversaORPHA129376694600073
HP:0000407HP:0000407Sensorineural hearing impairment0LRP4 CL E G H40383152Kuster syndromeORPHA110516696604270
HP:0000407HP:0000407Sensorineural hearing impairment0LRP5 CL E G H40413416Mathieu De Broca Bony syndromeORPHA118196697603506
HP:0000407HP:0000407Sensorineural hearing impairment0LRP5 CL E G H4041144750Worth disease144750C0432273OMIM118196697603506
HP:0000407HP:0000407Sensorineural hearing impairment0MAF CL E G H4094601088Ayme-gripp syndrome601088C1832812OMIM13786776177075
HP:0000407HP:0000407Sensorineural hearing impairment0MAFB CL E G H9935233D ercole syndromeORPHA11536408608968
HP:0000407HP:0000407Sensorineural hearing impairment0MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14456816154235
HP:0000407HP:0000407Sensorineural hearing impairment0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0000407HP:0000407Sensorineural hearing impairment0MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM14936840176872
HP:0000407HP:0000407Sensorineural hearing impairment0MAP3K20 CL E G H51776616890Split-foot malformation with mesoaxial polydactyly616890C4225167OMIM136817797609479
HP:0000407HP:0000407Sensorineural hearing impairment0MAP3K7 CL E G H68851826Dexamethasone sensitive hypertensionORPHA12356859602614
HP:0000407HP:0000407Sensorineural hearing impairment0MBTPS2 CL E G H51360659AmyoplasiaORPHA130915455300294
HP:0000407HP:0000407Sensorineural hearing impairment0MED12 CL E G H9968305450FG syndrome305450C0220769OMIM1157311957300188
HP:0000407HP:0000407Sensorineural hearing impairment0MEOX1 CL E G H4222214300Klippel-Feil syndrome 2, autosomal recessive214300C1859209OMIM11047013600147
HP:0000407HP:0000407Sensorineural hearing impairment0MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18157027604705
HP:0000407HP:0000407Sensorineural hearing impairment0MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0000407HP:0000407Sensorineural hearing impairment0MIR96 CL E G H407053613074Deafness, autosomal dominant 50613074C3888123OMIM14131648611606
HP:0000407HP:0000407Sensorineural hearing impairment0MITF CL E G H4286895ORPHA15397105156845
HP:0000407HP:0000407Sensorineural hearing impairment0MITF CL E G H4286103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM15397105156845
HP:0000407HP:0000407Sensorineural hearing impairment0MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0000407HP:0000407Sensorineural hearing impairment0MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM147324862601336
HP:0000407HP:0000407Sensorineural hearing impairment0MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM16077225159440
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 H4549551ORPHA117470180450
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TE CL E G H4556225Radial ray agenesisORPHA17479590025
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TF CL E G H4558550ORPHA17481590070
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TF CL E G H4558551ORPHA17481590070
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TH CL E G H4564550ORPHA17487590040
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TH CL E G H4564551ORPHA17487590040
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TK CL E G H4566551ORPHA17489590060
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TK CL E G H4566225Radial ray agenesisORPHA17489590060
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TL1 CL E G H4567550ORPHA17490590050
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TL1 CL E G H4567551ORPHA17490590050
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TL1 CL E G H4567225Radial ray agenesisORPHA17490590050
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TP CL E G H4571551ORPHA17494590075
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TQ CL E G H4572550ORPHA17495590030
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TQ CL E G H4572551ORPHA17495590030
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TS1 CL E G H4574550ORPHA17497590080
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TS1 CL E G H4574551ORPHA17497590080
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TS1 CL E G H45742202Exostoses anetodermia brachydactyly type EORPHA17497590080
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TS2 CL E G H4575550ORPHA17498590085
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TS2 CL E G H4575551ORPHA17498590085
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TS2 CL E G H4575231183ORPHA17498590085
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TW CL E G H4578550ORPHA17501590095
HP:0000407HP:0000407Sensorineural hearing impairment0MYO7A CL E G H4647231169ORPHA135997606276903
HP:0000407HP:0000407Sensorineural hearing impairment0MYO7A CL E G H4647231178ORPHA135997606276903
HP:0000407HP:0000407Sensorineural hearing impairment0MYO7A CL E G H4647600060Deafness, autosomal recessive 2600060C1838701OMIM135997606276903
HP:0000407HP:0000407Sensorineural hearing impairment0MYO7A CL E G H4647276900Usher syndrome, type 1276900C1568247OMIM135997606276903
HP:0000407HP:0000407Sensorineural hearing impairment0NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM12307631104170
HP:0000407HP:0000407Sensorineural hearing impairment0NDP CL E G H4693310600Atrophia bulborum hereditaria310600C0266526OMIM12997678300658
HP:0000407HP:0000407Sensorineural hearing impairment0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0000407HP:0000407Sensorineural hearing impairment0NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12167745604043
HP:0000407HP:0000407Sensorineural hearing impairment0NEU1 CL E G H4758812ORPHA11857758608272
HP:0000407HP:0000407Sensorineural hearing impairment0NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0000407HP:0000407Sensorineural hearing impairment0NF2 CL E G H4771637ORPHA117837773607379
HP:0000407HP:0000407Sensorineural hearing impairment0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0000407HP:0000407Sensorineural hearing impairment0NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0000407HP:0000407Sensorineural hearing impairment0NLRC4 CL E G H584841451ORPHA164316412606831
HP:0000407HP:0000407Sensorineural hearing impairment0NLRP12 CL E G H91662611762Familial cold autoinflammatory syndrome 2611762C2673198OMIM1103622938609648
HP:0000407HP:0000407Sensorineural hearing impairment0NLRP3 CL E G H1145481451ORPHA191716400606416
HP:0000407HP:0000407Sensorineural hearing impairment0NOG CL E G H92413250ORPHA11337866602991
HP:0000407HP:0000407Sensorineural hearing impairment0NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16077974604485
HP:0000407HP:0000407Sensorineural hearing impairment0NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM12817989164790
HP:0000407HP:0000407Sensorineural hearing impairment0NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13588002162080
HP:0000407HP:0000407Sensorineural hearing impairment0OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110202567300170
HP:0000407HP:0000407Sensorineural hearing impairment0OPA1 CL E G H49761215Cerebro reno digital syndromeORPHA112248140605290
HP:0000407HP:0000407Sensorineural hearing impairment0OPA1 CL E G H4976616896Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)616896C4225163OMIM112248140605290
HP:0000407HP:0000407Sensorineural hearing impairment0OSBPL2 CL E G H9885616340Deafness, autosomal dominant 67616340C4084712OMIM121315761606731
HP:0000407HP:0000407Sensorineural hearing impairment0OTOA CL E G H146183607039Deafness, autosomal recessive 22607039C1846896OMIM144616378607038
HP:0000407HP:0000407Sensorineural hearing impairment0OTOF CL E G H9381601071Deafness, autosomal recessive 9601071C1832828OMIM111298515603681
HP:0000407HP:0000407Sensorineural hearing impairment0PAX2 CL E G H5076120330Renal coloboma syndrome120330C1852759OMIM14068616167409
HP:0000407HP:0000407Sensorineural hearing impairment0PAX3 CL E G H50771529ORPHA13388617606597
HP:0000407HP:0000407Sensorineural hearing impairment0PAX3 CL E G H5077122880Craniofacial deafness hand syndrome122880C1852510OMIM13388617606597
HP:0000407HP:0000407Sensorineural hearing impairment0PAX3 CL E G H5077148820Klein-Waardenberg's syndrome148820C0342680OMIM13388617606597
HP:0000407HP:0000407Sensorineural hearing impairment0PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1102234383613425
HP:0000407HP:0000407Sensorineural hearing impairment0PCDH15 CL E G H65217231169ORPHA1291714674605514
HP:0000407HP:0000407Sensorineural hearing impairment0PCDH15 CL E G H65217609533Deafness, autosomal recessive 23609533C1836027OMIM1291714674605514
HP:0000407HP:0000407Sensorineural hearing impairment0PCNT CL E G H51162637HemimegalencephalyORPHA1200116068605925
HP:0000407HP:0000407Sensorineural hearing impairment0PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18348785180071
HP:0000407HP:0000407Sensorineural hearing impairment0PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111428786180072
HP:0000407HP:0000407Sensorineural hearing impairment0PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11258789180073
HP:0000407HP:0000407Sensorineural hearing impairment0PDGFRB CL E G H5159601812Premature aging syndrome, Penttinen type601812C1866182OMIM15318804173410
HP:0000407HP:0000407Sensorineural hearing impairment0PDZD7 CL E G H79955231178ORPHA192726257612971
HP:0000407HP:0000407Sensorineural hearing impairment0PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0000407HP:0000407Sensorineural hearing impairment0PEX1 CL E G H5189772ORPHA115378850602136
HP:0000407HP:0000407Sensorineural hearing impairment0PEX1 CL E G H5189912ORPHA115378850602136
HP:0000407HP:0000407Sensorineural hearing impairment0PEX1 CL E G H51893220ORPHA115378850602136
HP:0000407HP:0000407Sensorineural hearing impairment0PEX1 CL E G H5189234580Deafness enamel hypoplasia nail defects234580C1856186OMIM115378850602136
HP:0000407HP:0000407Sensorineural hearing impairment0PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0000407HP:0000407Sensorineural hearing impairment0PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM115378850602136
HP:0000407HP:0000407Sensorineural hearing impairment0PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM115378850602136
HP:0000407HP:0000407Sensorineural hearing impairment0PEX10 CL E G H5192772ORPHA18038851602859
HP:0000407HP:0000407Sensorineural hearing impairment0PEX10 CL E G H5192912ORPHA18038851602859
HP:0000407HP:0000407Sensorineural hearing impairment0PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0000407HP:0000407Sensorineural hearing impairment0PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM18038851602859
HP:0000407HP:0000407Sensorineural hearing impairment0PEX11B CL E G H8799772ORPHA14158853603867
HP:0000407HP:0000407Sensorineural hearing impairment0PEX11B CL E G H8799912ORPHA14158853603867
HP:0000407HP:0000407Sensorineural hearing impairment0PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0000407HP:0000407Sensorineural hearing impairment0PEX12 CL E G H5193772ORPHA14598854601758
HP:0000407HP:0000407Sensorineural hearing impairment0PEX12 CL E G H5193912ORPHA14598854601758
HP:0000407HP:0000407Sensorineural hearing impairment0PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM14598854601758
HP:0000407HP:0000407Sensorineural hearing impairment0PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0000407HP:0000407Sensorineural hearing impairment0PEX13 CL E G H5194772ORPHA14978855601789
HP:0000407HP:0000407Sensorineural hearing impairment0PEX13 CL E G H5194912ORPHA14978855601789
HP:0000407HP:0000407Sensorineural hearing impairment0PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0000407HP:0000407Sensorineural hearing impairment0PEX14 CL E G H5195772ORPHA14748856601791
HP:0000407HP:0000407Sensorineural hearing impairment0PEX14 CL E G H5195912ORPHA14748856601791
HP:0000407HP:0000407Sensorineural hearing impairment0PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0000407HP:0000407Sensorineural hearing impairment0PEX16 CL E G H9409772ORPHA14708857603360
HP:0000407HP:0000407Sensorineural hearing impairment0PEX16 CL E G H9409912ORPHA14708857603360
HP:0000407HP:0000407Sensorineural hearing impairment0PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0000407HP:0000407Sensorineural hearing impairment0PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM14708857603360
HP:0000407HP:0000407Sensorineural hearing impairment0PEX19 CL E G H5824772ORPHA13799713600279
HP:0000407HP:0000407Sensorineural hearing impairment0PEX19 CL E G H5824912ORPHA13799713600279
HP:0000407HP:0000407Sensorineural hearing impairment0PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0000407HP:0000407Sensorineural hearing impairment0PEX2 CL E G H5828772ORPHA14639717170993
HP:0000407HP:0000407Sensorineural hearing impairment0PEX2 CL E G H5828912ORPHA14639717170993
HP:0000407HP:0000407Sensorineural hearing impairment0PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0000407HP:0000407Sensorineural hearing impairment0PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM14639717170993
HP:0000407HP:0000407Sensorineural hearing impairment0PEX26 CL E G H55670772ORPHA152222965608666
HP:0000407HP:0000407Sensorineural hearing impairment0PEX26 CL E G H55670912ORPHA152222965608666
HP:0000407HP:0000407Sensorineural hearing impairment0PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0000407HP:0000407Sensorineural hearing impairment0PEX26 CL E G H55670614873Peroxisome biogenesis disorder 7B614873C3553951OMIM152222965608666
HP:0000407HP:0000407Sensorineural hearing impairment0PEX3 CL E G H8504772ORPHA13588858603164
HP:0000407HP:0000407Sensorineural hearing impairment0PEX3 CL E G H8504912ORPHA13588858603164
HP:0000407HP:0000407Sensorineural hearing impairment0PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0000407HP:0000407Sensorineural hearing impairment0PEX5 CL E G H5830772ORPHA18589719600414
HP:0000407HP:0000407Sensorineural hearing impairment0PEX5 CL E G H5830912ORPHA18589719600414
HP:0000407HP:0000407Sensorineural hearing impairment0PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0000407HP:0000407Sensorineural hearing impairment0PEX6 CL E G H5190772ORPHA114588859601498
HP:0000407HP:0000407Sensorineural hearing impairment0PEX6 CL E G H5190912ORPHA114588859601498
HP:0000407HP:0000407Sensorineural hearing impairment0PEX6 CL E G H51903220ORPHA114588859601498
HP:0000407HP:0000407Sensorineural hearing impairment0PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0000407HP:0000407Sensorineural hearing impairment0PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM114588859601498
HP:0000407HP:0000407Sensorineural hearing impairment0PEX7 CL E G H5191773ORPHA15508860601757
HP:0000407HP:0000407Sensorineural hearing impairment0PEX7 CL E G H5191614879Peroxisome biogenesis disorder 9B614879CN159238OMIM15508860601757
HP:0000407HP:0000407Sensorineural hearing impairment0PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM15508860601757
HP:0000407HP:0000407Sensorineural hearing impairment0PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0000407HP:0000407Sensorineural hearing impairment0PGM3 CL E G H5238615816Immunodeficiency 23615816C4014371OMIM13598907172100
HP:0000407HP:0000407Sensorineural hearing impairment0PHYH CL E G H5264773ORPHA13828940602026
HP:0000407HP:0000407Sensorineural hearing impairment0PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM13828940602026
HP:0000407HP:0000407Sensorineural hearing impairment0PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA14578979171833
HP:0000407HP:0000407Sensorineural hearing impairment0PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM14578979171833
HP:0000407HP:0000407Sensorineural hearing impairment0PJVK CL E G H494513610220Deafness, autosomal recessive 59610220C1857744OMIM117229502610219
HP:0000407HP:0000407Sensorineural hearing impairment0PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM14929118601097
HP:0000407HP:0000407Sensorineural hearing impairment0PNPLA6 CL E G H109082377ORPHA1121616268603197
HP:0000407HP:0000407Sensorineural hearing impairment0POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM143789175174761
HP:0000407HP:0000407Sensorineural hearing impairment0POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM123249179174763
HP:0000407HP:0000407Sensorineural hearing impairment0POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0000407HP:0000407Sensorineural hearing impairment0POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0000407HP:0000407Sensorineural hearing impairment0POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM123249179174763
HP:0000407HP:0000407Sensorineural hearing impairment0POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1117419139606822
HP:0000407HP:0000407Sensorineural hearing impairment0POU3F4 CL E G H54561435Coloboma of lens ala nasiORPHA12599217300039
HP:0000407HP:0000407Sensorineural hearing impairment0PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA114432528610598
HP:0000407HP:0000407Sensorineural hearing impairment0PRDM5 CL E G H1110790354ORPHA14449349614161
HP:0000407HP:0000407Sensorineural hearing impairment0PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19289454604365
HP:0000407HP:0000407Sensorineural hearing impairment0PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA132517348607301
HP:0000407HP:0000407Sensorineural hearing impairment0PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA162915446606419
HP:0000407HP:0000407Sensorineural hearing impairment0PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA130517349607795
HP:0000407HP:0000407Sensorineural hearing impairment0PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158115860613979
HP:0000407HP:0000407Sensorineural hearing impairment0PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1124017340607300
HP:0000407HP:0000407Sensorineural hearing impairment0PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17029942179605
HP:0000407HP:0000407Sensorineural hearing impairment0PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0000407HP:0000407Sensorineural hearing impairment0PRPS1 CL E G H5631311070Charcot-Marie-Tooth disease, X-linked recessive, type 5311070C1839566OMIM14159462311850
HP:0000407HP:0000407Sensorineural hearing impairment0PRPS1 CL E G H5631304500Deafness, X-linked 1304500C1844677OMIM14159462311850
HP:0000407HP:0000407Sensorineural hearing impairment0PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM14159462311850
HP:0000407HP:0000407Sensorineural hearing impairment0PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM11909587612792
HP:0000407HP:0000407Sensorineural hearing impairment0PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM18549644176876
HP:0000407HP:0000407Sensorineural hearing impairment0PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM18549644176876
HP:0000407HP:0000407Sensorineural hearing impairment0PTPN22 CL E G H261913437ORPHA1639652600716
HP:0000407HP:0000407Sensorineural hearing impairment0PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM14924265608625
HP:0000407HP:0000407Sensorineural hearing impairment0RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM122514263606144
HP:0000407HP:0000407Sensorineural hearing impairment0RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM11129801602048
HP:0000407HP:0000407Sensorineural hearing impairment0RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0000407HP:0000407Sensorineural hearing impairment0RAP1A CL E G H59062322ORPHA1419855179520
HP:0000407HP:0000407Sensorineural hearing impairment0RAP1B CL E G H59082322ORPHA1359857179530
HP:0000407HP:0000407Sensorineural hearing impairment0RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110389921180290
HP:0000407HP:0000407Sensorineural hearing impairment0RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149519977608830
HP:0000407HP:0000407Sensorineural hearing impairment0REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA126630078609346
HP:0000407HP:0000407Sensorineural hearing impairment0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0000407HP:0000407Sensorineural hearing impairment0RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0000407HP:0000407Sensorineural hearing impairment0RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12799990600342
HP:0000407HP:0000407Sensorineural hearing impairment0RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153710012180380
HP:0000407HP:0000407Sensorineural hearing impairment0RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131410024180090
HP:0000407HP:0000407Sensorineural hearing impairment0ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131110254180721
HP:0000407HP:0000407Sensorineural hearing impairment0RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1131810263603937
HP:0000407HP:0000407Sensorineural hearing impairment0RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA148410274300757
HP:0000407HP:0000407Sensorineural hearing impairment0RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA113210288607331
HP:0000407HP:0000407Sensorineural hearing impairment0RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178310294180069
HP:0000407HP:0000407Sensorineural hearing impairment0RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1143310295312610
HP:0000407HP:0000407Sensorineural hearing impairment0RPL10 CL E G H6134435938ORPHA128110298312173
HP:0000407HP:0000407Sensorineural hearing impairment0RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM151510432300075
HP:0000407HP:0000407Sensorineural hearing impairment0RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0000407HP:0000407Sensorineural hearing impairment0S1PR2 CL E G H9294610419Deafness, autosomal recessive 68610419C1835854OMIM1943169605111
HP:0000407HP:0000407Sensorineural hearing impairment0SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143010521181031
HP:0000407HP:0000407Sensorineural hearing impairment0SALL4 CL E G H57167959ORPHA130115924607343
HP:0000407HP:0000407Sensorineural hearing impairment0SALL4 CL E G H57167607323Duane-radial ray syndrome607323C1623209OMIM130115924607343
HP:0000407HP:0000407Sensorineural hearing impairment0SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM114562135607697
HP:0000407HP:0000407Sensorineural hearing impairment0SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA115713081611611
HP:0000407HP:0000407Sensorineural hearing impairment0SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0000407HP:0000407Sensorineural hearing impairment0SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0000407HP:0000407Sensorineural hearing impairment0SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153010729607292
HP:0000407HP:0000407Sensorineural hearing impairment0SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0000407HP:0000407Sensorineural hearing impairment0SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0000407HP:0000407Sensorineural hearing impairment0SIX1 CL E G H649552429ORPHA119510887601205
HP:0000407HP:0000407Sensorineural hearing impairment0SIX1 CL E G H6495608389Branchiootic syndrome 3608389C1842124OMIM119510887601205
HP:0000407HP:0000407Sensorineural hearing impairment0SIX1 CL E G H6495605192Deafness, autosomal dominant 23605192C1854594OMIM119510887601205
HP:0000407HP:0000407Sensorineural hearing impairment0SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM112810892606326
HP:0000407HP:0000407Sensorineural hearing impairment0SLC17A8 CL E G H246213605583Deafness, autosomal dominant 25605583C1854158OMIM126120151607557
HP:0000407HP:0000407Sensorineural hearing impairment0SLC19A2 CL E G H1056049827ORPHA124610938603941
HP:0000407HP:0000407Sensorineural hearing impairment0SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM124610938603941
HP:0000407HP:0000407Sensorineural hearing impairment0SLC26A4 CL E G H5172705ORPHA112228818605646
HP:0000407HP:0000407Sensorineural hearing impairment0SLC26A4 CL E G H5172600791Enlarged vestibular aqueduct600791C1863752OMIM112228818605646
HP:0000407HP:0000407Sensorineural hearing impairment0SLC26A5 CL E G H375611613865Deafness, autosomal recessive 61613865C3151230OMIM12209359604943
HP:0000407HP:0000407Sensorineural hearing impairment0SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM144723096612373
HP:0000407HP:0000407Sensorineural hearing impairment0SLC39A14 CL E G H23516144755Hyperostosis cranialis interna144755C1840404OMIM127020858608736
HP:0000407HP:0000407Sensorineural hearing impairment0SLC44A4 CL E G H80736617606DEAFNESS, AUTOSOMAL DOMINANT 72617606C4539886OMIM117013941606107
HP:0000407HP:0000407Sensorineural hearing impairment0SLC4A11 CL E G H839591490Congenital ichtyosiform erythrodermaORPHA180916438610206
HP:0000407HP:0000407Sensorineural hearing impairment0SLC4A11 CL E G H83959217400Corneal dystrophy and perceptive deafness217400C1857572OMIM180916438610206
HP:0000407HP:0000407Sensorineural hearing impairment0SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM152030224607882
HP:0000407HP:0000407Sensorineural hearing impairment0SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0000407HP:0000407Sensorineural hearing impairment0SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA146129326615720
HP:0000407HP:0000407Sensorineural hearing impairment0SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0000407HP:0000407Sensorineural hearing impairment0SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0000407HP:0000407Sensorineural hearing impairment0SMCHD1 CL E G H23347269ORPHA1134129090614982
HP:0000407HP:0000407Sensorineural hearing impairment0SMPX CL E G H23676300066Deafness, X-linked 4300066C1848204OMIM121711122300226
HP:0000407HP:0000407Sensorineural hearing impairment0SNAI2 CL E G H6591895ORPHA110111094602150
HP:0000407HP:0000407Sensorineural hearing impairment0SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0000407HP:0000407Sensorineural hearing impairment0SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1107330859601664
HP:0000407HP:0000407Sensorineural hearing impairment0SOST CL E G H509643152Kuster syndromeORPHA19913771605740
HP:0000407HP:0000407Sensorineural hearing impairment0SOST CL E G H509643416Mathieu De Broca Bony syndromeORPHA19913771605740
HP:0000407HP:0000407Sensorineural hearing impairment0SOX10 CL E G H6663895ORPHA137811190602229
HP:0000407HP:0000407Sensorineural hearing impairment0SOX10 CL E G H6663163746ORPHA137811190602229
HP:0000407HP:0000407Sensorineural hearing impairment0SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0000407HP:0000407Sensorineural hearing impairment0SOX10 CL E G H6663613266Waardenburg syndrome type 4C613266C2750452OMIM137811190602229
HP:0000407HP:0000407Sensorineural hearing impairment0SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM121111195184429
HP:0000407HP:0000407Sensorineural hearing impairment0SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0000407HP:0000407Sensorineural hearing impairment0SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143220423609868
HP:0000407HP:0000407Sensorineural hearing impairment0SPTLC1 CL E G H10558162400Neuropathy hereditary sensory and autonomic type 1162400C0020071OMIM139111277605712
HP:0000407HP:0000407Sensorineural hearing impairment0STRC CL E G H16149794064ORPHA130416035606440
HP:0000407HP:0000407Sensorineural hearing impairment0STRC CL E G H161497603720Deafness, autosomal recessive 16603720C1863561OMIM130416035606440
HP:0000407HP:0000407Sensorineural hearing impairment0SUCLA2 CL E G H88031933ORPHA141311448603921
HP:0000407HP:0000407Sensorineural hearing impairment0SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0000407HP:0000407Sensorineural hearing impairment0SUMF1 CL E G H285362585ORPHA174620376607939
HP:0000407HP:0000407Sensorineural hearing impairment0SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0000407HP:0000407Sensorineural hearing impairment0SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0000407HP:0000407Sensorineural hearing impairment0TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0000407HP:0000407Sensorineural hearing impairment0TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM189329203613577
HP:0000407HP:0000407Sensorineural hearing impairment0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0000407HP:0000407Sensorineural hearing impairment0TBX22 CL E G H50945921Bone dysplasia corpus callosum agenesisORPHA122811600300307
HP:0000407HP:0000407Sensorineural hearing impairment0TECTA CL E G H7007601543Deafness, autosomal dominant 12601543C1832187OMIM192911720602574
HP:0000407HP:0000407Sensorineural hearing impairment0TECTA CL E G H7007603629Deafness, autosomal recessive 21603629C1863655OMIM192911720602574
HP:0000407HP:0000407Sensorineural hearing impairment0TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM121111742107580
HP:0000407HP:0000407Sensorineural hearing impairment0THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000407HP:0000407Sensorineural hearing impairment0TMC1 CL E G H117531606705Deafness, autosomal dominant 36606705C1847626OMIM146616513606706
HP:0000407HP:0000407Sensorineural hearing impairment0TMC1 CL E G H117531600974Deafness, autosomal recessive 7600974C1832978OMIM146616513606706
HP:0000407HP:0000407Sensorineural hearing impairment0TMPRSS3 CL E G H64699601072Deafness, autosomal recessive 8601072C1832827OMIM142511877605511
HP:0000407HP:0000407Sensorineural hearing impairment0TNFRSF11B CL E G H4982239000Hyperphosphatasemia with bone disease239000C0268414OMIM120811909602643
HP:0000407HP:0000407Sensorineural hearing impairment0TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158321653609507
HP:0000407HP:0000407Sensorineural hearing impairment0TPRN CL E G H286262613307Deafness, autosomal recessive 79613307C2750082OMIM132626894613354
HP:0000407HP:0000407Sensorineural hearing impairment0TRPV3 CL E G H162514659AmyoplasiaORPHA139718084607066
HP:0000407HP:0000407Sensorineural hearing impairment0TRPV4 CL E G H59341606071Charcot-Marie-Tooth disease type 2C606071C2079540OMIM1101818083605427
HP:0000407HP:0000407Sensorineural hearing impairment0TSPEAR CL E G H54084614861Deafness, autosomal recessive 98614861C3553932OMIM17661268612920
HP:0000407HP:0000407Sensorineural hearing impairment0TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA142720087608132
HP:0000407HP:0000407Sensorineural hearing impairment0TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147712406601197
HP:0000407HP:0000407Sensorineural hearing impairment0TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158712423602280
HP:0000407HP:0000407Sensorineural hearing impairment0TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM14501160606075
HP:0000407HP:0000407Sensorineural hearing impairment0TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0000407HP:0000407Sensorineural hearing impairment0TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0000407HP:0000407Sensorineural hearing impairment0TYR CL E G H7299103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM151712442606933
HP:0000407HP:0000407Sensorineural hearing impairment0UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA135016808605981
HP:0000407HP:0000407Sensorineural hearing impairment0UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0000407HP:0000407Sensorineural hearing impairment0USH1C CL E G H10083231169ORPHA1114612597605242
HP:0000407HP:0000407Sensorineural hearing impairment0USH1C CL E G H10083602092Deafness, autosomal recessive 18602092C1865870OMIM1114612597605242
HP:0000407HP:0000407Sensorineural hearing impairment0USH1C CL E G H10083276900Usher syndrome, type 1276900C1568247OMIM1114612597605242
HP:0000407HP:0000407Sensorineural hearing impairment0USH1G CL E G H124590231169ORPHA142016356607696
HP:0000407HP:0000407Sensorineural hearing impairment0USH1G CL E G H124590606943Usher syndrome, type 1G606943C1847089OMIM142016356607696
HP:0000407HP:0000407Sensorineural hearing impairment0USH2A CL E G H7399231178ORPHA1704012601608400
HP:0000407HP:0000407Sensorineural hearing impairment0USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1704012601608400
HP:0000407HP:0000407Sensorineural hearing impairment0VHL CL E G H7428892Billet Bear syndromeORPHA1180512687608537
HP:0000407HP:0000407Sensorineural hearing impairment0VHL CL E G H7428193300Von Hippel-Lindau syndrome193300C0019562OMIM1180512687608537
HP:0000407HP:0000407Sensorineural hearing impairment0VPS11 CL E G H55823466934ORPHA122814583608549
HP:0000407HP:0000407Sensorineural hearing impairment0WFS1 CL E G H74663463ORPHA1163412762606201
HP:0000407HP:0000407Sensorineural hearing impairment0WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1163412762606201
HP:0000407HP:0000407Sensorineural hearing impairment0WHRN CL E G H25861231178ORPHA184816361607928
HP:0000407HP:0000407Sensorineural hearing impairment0WHRN CL E G H25861607084Deafness, autosomal recessive 31607084C1846839OMIM184816361607928
HP:0000407HP:0000407Sensorineural hearing impairment0XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA132112814611153
HP:0000407HP:0000407Sensorineural hearing impairment0XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0000407HP:0000407Sensorineural hearing impairment0XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA178812816613208
HP:0000407HP:0000407Sensorineural hearing impairment0XYLT2 CL E G H64132605822Spondyloocular syndrome, autosomal recessive605822C1853925OMIM132715517608125
HP:0000407HP:0000407Sensorineural hearing impairment0YAP1 CL E G H104131473Congenital articular rigidityORPHA18216262606608
HP:0000407HP:0000407Sensorineural hearing impairment0ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA120912877606480
HP:0000407HP:0000407Sensorineural hearing impairment0ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149420041616454
HP:0000407HP:0000407Sensorineural hearing impairment0ZNF469 CL E G H8462790354ORPHA1316323216612078
HP:0000407HP:0000407Sensorineural hearing impairment0ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137626498613598
HP:0000407HP:0000410Mixed hearing impairment1AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM120601065
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM120601065
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM120601065
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM120601065
HP:0000407HP:0008527Congenital sensorineural hearing impairment1AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM120601065
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM120601065
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM120601065
HP:0000407HP:0008587Mild neurosensory hearing impairment1AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM120601065
HP:0000407HP:0008504Moderate sensorineural hearing impairment1AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM120601065
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM120601065
HP:0000407HP:0011476Profound sensorineural hearing impairment1AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM120601065
HP:0000407HP:0000408Progressive sensorineural hearing impairment1AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM120601065
HP:0000407HP:0008625Severe sensorineural hearing impairment1AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM120601065
HP:0000407HP:0000410Mixed hearing impairment1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1323334601691
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1323334601691
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1323334601691
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1323334601691
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1323334601691
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1323334601691
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1323334601691
HP:0000407HP:0008587Mild neurosensory hearing impairment1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1323334601691
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1323334601691
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1323334601691
HP:0000407HP:0011476Profound sensorineural hearing impairment1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1323334601691
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1323334601691
HP:0000407HP:0008625Severe sensorineural hearing impairment1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1323334601691
HP:0000407HP:0000410Mixed hearing impairment1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0000407HP:0008587Mild neurosensory hearing impairment1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0000407HP:0011476Profound sensorineural hearing impairment1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0000407HP:0008625Severe sensorineural hearing impairment1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0000407HP:0000410Mixed hearing impairment1ABHD5 CL E G H5109998907ORPHA129121396604780
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ABHD5 CL E G H5109998907ORPHA129121396604780
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ABHD5 CL E G H5109998907ORPHA129121396604780
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ABHD5 CL E G H5109998907ORPHA129121396604780
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ABHD5 CL E G H5109998907ORPHA129121396604780
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ABHD5 CL E G H5109998907ORPHA129121396604780
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ABHD5 CL E G H5109998907ORPHA129121396604780
HP:0000407HP:0008587Mild neurosensory hearing impairment1ABHD5 CL E G H5109998907ORPHA129121396604780
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ABHD5 CL E G H5109998907ORPHA129121396604780
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ABHD5 CL E G H5109998907ORPHA129121396604780
HP:0000407HP:0011476Profound sensorineural hearing impairment1ABHD5 CL E G H5109998907ORPHA129121396604780
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ABHD5 CL E G H5109998907ORPHA129121396604780
HP:0000407HP:0008625Severe sensorineural hearing impairment1ABHD5 CL E G H5109998907ORPHA129121396604780
HP:0000407HP:0000410Mixed hearing impairment1ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM129121396604780
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM129121396604780
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM129121396604780
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM129121396604780
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM129121396604780
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM129121396604780
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM129121396604780
HP:0000407HP:0008587Mild neurosensory hearing impairment1ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM129121396604780
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM129121396604780
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM129121396604780
HP:0000407HP:0011476Profound sensorineural hearing impairment1ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM129121396604780
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM129121396604780
HP:0000407HP:0008625Severe sensorineural hearing impairment1ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM129121396604780
HP:0000407HP:0000410Mixed hearing impairment1ACOX1 CL E G H512971ORPHA1665119609751
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ACOX1 CL E G H512971ORPHA1665119609751
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ACOX1 CL E G H512971ORPHA1665119609751
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ACOX1 CL E G H512971ORPHA1665119609751
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ACOX1 CL E G H512971ORPHA1665119609751
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ACOX1 CL E G H512971ORPHA1665119609751
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ACOX1 CL E G H512971ORPHA1665119609751
HP:0000407HP:0008587Mild neurosensory hearing impairment1ACOX1 CL E G H512971ORPHA1665119609751
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ACOX1 CL E G H512971ORPHA1665119609751
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ACOX1 CL E G H512971ORPHA1665119609751
HP:0000407HP:0011476Profound sensorineural hearing impairment1ACOX1 CL E G H512971ORPHA1665119609751
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ACOX1 CL E G H512971ORPHA1665119609751
HP:0000407HP:0008625Severe sensorineural hearing impairment1ACOX1 CL E G H512971ORPHA1665119609751
HP:0000407HP:0000410Mixed hearing impairment1ACTB CL E G H6079107ORPHA1512132102630
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ACTB CL E G H6079107ORPHA1512132102630
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ACTB CL E G H6079107ORPHA1512132102630
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ACTB CL E G H6079107ORPHA1512132102630
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ACTB CL E G H6079107ORPHA1512132102630
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ACTB CL E G H6079107ORPHA1512132102630
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ACTB CL E G H6079107ORPHA1512132102630
HP:0000407HP:0008587Mild neurosensory hearing impairment1ACTB CL E G H6079107ORPHA1512132102630
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ACTB CL E G H6079107ORPHA1512132102630
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ACTB CL E G H6079107ORPHA1512132102630
HP:0000407HP:0011476Profound sensorineural hearing impairment1ACTB CL E G H6079107ORPHA1512132102630
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ACTB CL E G H6079107ORPHA1512132102630
HP:0000407HP:0008625Severe sensorineural hearing impairment1ACTB CL E G H6079107ORPHA1512132102630
HP:0000407HP:0000410Mixed hearing impairment1ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1512132102630
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1512132102630
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1512132102630
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1512132102630
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1512132102630
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1512132102630
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1512132102630
HP:0000407HP:0008587Mild neurosensory hearing impairment1ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1512132102630
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1512132102630
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1512132102630
HP:0000407HP:0011476Profound sensorineural hearing impairment1ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1512132102630
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1512132102630
HP:0000407HP:0008625Severe sensorineural hearing impairment1ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1512132102630
HP:0000407HP:0000410Mixed hearing impairment1ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM1512132102630
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM1512132102630
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM1512132102630
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM1512132102630
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM1512132102630
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM1512132102630
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM1512132102630
HP:0000407HP:0008587Mild neurosensory hearing impairment1ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM1512132102630
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM1512132102630
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM1512132102630
HP:0000407HP:0011476Profound sensorineural hearing impairment1ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM1512132102630
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM1512132102630
HP:0000407HP:0008625Severe sensorineural hearing impairment1ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM1512132102630
HP:0000407HP:0000410Mixed hearing impairment1ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1241171102576
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1241171102576
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1241171102576
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1241171102576
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1241171102576
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1241171102576
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1241171102576
HP:0000407HP:0008587Mild neurosensory hearing impairment1ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1241171102576
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1241171102576
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1241171102576
HP:0000407HP:0011476Profound sensorineural hearing impairment1ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1241171102576
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1241171102576
HP:0000407HP:0008625Severe sensorineural hearing impairment1ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1241171102576
HP:0000407HP:0000410Mixed hearing impairment1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM1153177104620
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM1153177104620
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM1153177104620
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM1153177104620
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM1153177104620
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM1153177104620
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM1153177104620
HP:0000407HP:0008587Mild neurosensory hearing impairment1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM1153177104620
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM1153177104620
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM1153177104620
HP:0000407HP:0011476Profound sensorineural hearing impairment1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM1153177104620
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM1153177104620
HP:0000407HP:0008625Severe sensorineural hearing impairment1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM1153177104620
HP:0000407HP:0000410Mixed hearing impairment1ADGRV1 CL E G H84059231178ORPHA1456117416602851
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ADGRV1 CL E G H84059231178ORPHA1456117416602851
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ADGRV1 CL E G H84059231178ORPHA1456117416602851
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ADGRV1 CL E G H84059231178ORPHA1456117416602851
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ADGRV1 CL E G H84059231178ORPHA1456117416602851
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ADGRV1 CL E G H84059231178ORPHA1456117416602851
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ADGRV1 CL E G H84059231178ORPHA1456117416602851
HP:0000407HP:0008587Mild neurosensory hearing impairment1ADGRV1 CL E G H84059231178ORPHA1456117416602851
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ADGRV1 CL E G H84059231178ORPHA1456117416602851
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ADGRV1 CL E G H84059231178ORPHA1456117416602851
HP:0000407HP:0011476Profound sensorineural hearing impairment1ADGRV1 CL E G H84059231178ORPHA1456117416602851
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ADGRV1 CL E G H84059231178ORPHA1456117416602851
HP:0000407HP:0008625Severe sensorineural hearing impairment1ADGRV1 CL E G H84059231178ORPHA1456117416602851
HP:0000407HP:0000410Mixed hearing impairment1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA160126147615900
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA160126147615900
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA160126147615900
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA160126147615900
HP:0000407HP:0008527Congenital sensorineural hearing impairment1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA160126147615900
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA160126147615900
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA160126147615900
HP:0000407HP:0008587Mild neurosensory hearing impairment1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA160126147615900
HP:0000407HP:0008504Moderate sensorineural hearing impairment1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA160126147615900
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA160126147615900
HP:0000407HP:0011476Profound sensorineural hearing impairment1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA160126147615900
HP:0000407HP:0000408Progressive sensorineural hearing impairment1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA160126147615900
HP:0000407HP:0008625Severe sensorineural hearing impairment1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA160126147615900
HP:0000407HP:0000410Mixed hearing impairment1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1119421575608894
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1119421575608894
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1119421575608894
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1119421575608894
HP:0000407HP:0008527Congenital sensorineural hearing impairment1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1119421575608894
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1119421575608894
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1119421575608894
HP:0000407HP:0008587Mild neurosensory hearing impairment1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1119421575608894
HP:0000407HP:0008504Moderate sensorineural hearing impairment1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1119421575608894
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1119421575608894
HP:0000407HP:0011476Profound sensorineural hearing impairment1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1119421575608894
HP:0000407HP:0000408Progressive sensorineural hearing impairment1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1119421575608894
HP:0000407HP:0008625Severe sensorineural hearing impairment1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1119421575608894
HP:0000407HP:0000410Mixed hearing impairment1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1479348600253
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1479348600253
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1479348600253
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1479348600253
HP:0000407HP:0008527Congenital sensorineural hearing impairment1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1479348600253
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1479348600253
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1479348600253
HP:0000407HP:0008587Mild neurosensory hearing impairment1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1479348600253
HP:0000407HP:0008504Moderate sensorineural hearing impairment1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1479348600253
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1479348600253
HP:0000407HP:0011476Profound sensorineural hearing impairment1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1479348600253
HP:0000407HP:0000408Progressive sensorineural hearing impairment1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1479348600253
HP:0000407HP:0008625Severe sensorineural hearing impairment1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1479348600253
HP:0000407HP:0000410Mixed hearing impairment1ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM165919358607144
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM165919358607144
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM165919358607144
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM165919358607144
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM165919358607144
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM165919358607144
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM165919358607144
HP:0000407HP:0008587Mild neurosensory hearing impairment1ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM165919358607144
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM165919358607144
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM165919358607144
HP:0000407HP:0011476Profound sensorineural hearing impairment1ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM165919358607144
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM165919358607144
HP:0000407HP:0008625Severe sensorineural hearing impairment1ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM165919358607144
HP:0000407HP:0000410Mixed hearing impairment1AMMECR1 CL E G H9949300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis300990C4310810OMIM1218467300195
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1AMMECR1 CL E G H9949300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis300990C4310810OMIM1218467300195
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1AMMECR1 CL E G H9949300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis300990C4310810OMIM1218467300195
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1AMMECR1 CL E G H9949300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis300990C4310810OMIM1218467300195
HP:0000407HP:0008527Congenital sensorineural hearing impairment1AMMECR1 CL E G H9949300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis300990C4310810OMIM1218467300195
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1AMMECR1 CL E G H9949300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis300990C4310810OMIM1218467300195
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1AMMECR1 CL E G H9949300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis300990C4310810OMIM1218467300195
HP:0000407HP:0008587Mild neurosensory hearing impairment1AMMECR1 CL E G H9949300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis300990C4310810OMIM1218467300195
HP:0000407HP:0008504Moderate sensorineural hearing impairment1AMMECR1 CL E G H9949300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis300990C4310810OMIM1218467300195
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1AMMECR1 CL E G H9949300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis300990C4310810OMIM1218467300195
HP:0000407HP:0011476Profound sensorineural hearing impairment1AMMECR1 CL E G H9949300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis300990C4310810OMIM1218467300195
HP:0000407HP:0000408Progressive sensorineural hearing impairment1AMMECR1 CL E G H9949300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis300990C4310810OMIM1218467300195
HP:0000407HP:0008625Severe sensorineural hearing impairment1AMMECR1 CL E G H9949300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis300990C4310810OMIM1218467300195
HP:0000407HP:0000410Mixed hearing impairment1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0000407HP:0008527Congenital sensorineural hearing impairment1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0000407HP:0008587Mild neurosensory hearing impairment1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0000407HP:0008504Moderate sensorineural hearing impairment1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0000407HP:0011476Profound sensorineural hearing impairment1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0000407HP:0000408Progressive sensorineural hearing impairment1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0000407HP:0008625Severe sensorineural hearing impairment1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0000407HP:0000410Mixed hearing impairment1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0000407HP:0008527Congenital sensorineural hearing impairment1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0000407HP:0008587Mild neurosensory hearing impairment1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0000407HP:0008504Moderate sensorineural hearing impairment1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0000407HP:0011476Profound sensorineural hearing impairment1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0000407HP:0000408Progressive sensorineural hearing impairment1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0000407HP:0008625Severe sensorineural hearing impairment1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0000407HP:0000410Mixed hearing impairment1ARHGDIA CL E G H396615244Nephrotic syndrome, type 8615244C3808953OMIM165678601925
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ARHGDIA CL E G H396615244Nephrotic syndrome, type 8615244C3808953OMIM165678601925
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ARHGDIA CL E G H396615244Nephrotic syndrome, type 8615244C3808953OMIM165678601925
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ARHGDIA CL E G H396615244Nephrotic syndrome, type 8615244C3808953OMIM165678601925
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ARHGDIA CL E G H396615244Nephrotic syndrome, type 8615244C3808953OMIM165678601925
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ARHGDIA CL E G H396615244Nephrotic syndrome, type 8615244C3808953OMIM165678601925
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ARHGDIA CL E G H396615244Nephrotic syndrome, type 8615244C3808953OMIM165678601925
HP:0000407HP:0008587Mild neurosensory hearing impairment1ARHGDIA CL E G H396615244Nephrotic syndrome, type 8615244C3808953OMIM165678601925
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ARHGDIA CL E G H396615244Nephrotic syndrome, type 8615244C3808953OMIM165678601925
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ARHGDIA CL E G H396615244Nephrotic syndrome, type 8615244C3808953OMIM165678601925
HP:0000407HP:0011476Profound sensorineural hearing impairment1ARHGDIA CL E G H396615244Nephrotic syndrome, type 8615244C3808953OMIM165678601925
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ARHGDIA CL E G H396615244Nephrotic syndrome, type 8615244C3808953OMIM165678601925
HP:0000407HP:0008625Severe sensorineural hearing impairment1ARHGDIA CL E G H396615244Nephrotic syndrome, type 8615244C3808953OMIM165678601925
HP:0000407HP:0000410Mixed hearing impairment1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA191217090616432
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA191217090616432
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA191217090616432
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA191217090616432
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA191217090616432
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA191217090616432
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA191217090616432
HP:0000407HP:0008587Mild neurosensory hearing impairment1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA191217090616432
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA191217090616432
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA191217090616432
HP:0000407HP:0011476Profound sensorineural hearing impairment1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA191217090616432
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA191217090616432
HP:0000407HP:0008625Severe sensorineural hearing impairment1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA191217090616432
HP:0000407HP:0000410Mixed hearing impairment1ARID1B CL E G H57492251056ORPHA1175918040614556
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ARID1B CL E G H57492251056ORPHA1175918040614556
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ARID1B CL E G H57492251056ORPHA1175918040614556
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ARID1B CL E G H57492251056ORPHA1175918040614556
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ARID1B CL E G H57492251056ORPHA1175918040614556
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ARID1B CL E G H57492251056ORPHA1175918040614556
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ARID1B CL E G H57492251056ORPHA1175918040614556
HP:0000407HP:0008587Mild neurosensory hearing impairment1ARID1B CL E G H57492251056ORPHA1175918040614556
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ARID1B CL E G H57492251056ORPHA1175918040614556
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ARID1B CL E G H57492251056ORPHA1175918040614556
HP:0000407HP:0011476Profound sensorineural hearing impairment1ARID1B CL E G H57492251056ORPHA1175918040614556
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ARID1B CL E G H57492251056ORPHA1175918040614556
HP:0000407HP:0008625Severe sensorineural hearing impairment1ARID1B CL E G H57492251056ORPHA1175918040614556
HP:0000407HP:0000410Mixed hearing impairment1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111317146615407
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111317146615407
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111317146615407
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111317146615407
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111317146615407
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111317146615407
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111317146615407
HP:0000407HP:0008587Mild neurosensory hearing impairment1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111317146615407
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111317146615407
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111317146615407
HP:0000407HP:0011476Profound sensorineural hearing impairment1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111317146615407
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111317146615407
HP:0000407HP:0008625Severe sensorineural hearing impairment1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111317146615407
HP:0000407HP:0000410Mixed hearing impairment1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1137694604695
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1137694604695
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1137694604695
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1137694604695
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1137694604695
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1137694604695
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1137694604695
HP:0000407HP:0008587Mild neurosensory hearing impairment1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1137694604695
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1137694604695
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1137694604695
HP:0000407HP:0011476Profound sensorineural hearing impairment1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1137694604695
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1137694604695
HP:0000407HP:0008625Severe sensorineural hearing impairment1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1137694604695
HP:0000407HP:0000410Mixed hearing impairment1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120113210608845
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120113210608845
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120113210608845
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120113210608845
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120113210608845
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120113210608845
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120113210608845
HP:0000407HP:0008587Mild neurosensory hearing impairment1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120113210608845
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120113210608845
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120113210608845
HP:0000407HP:0011476Profound sensorineural hearing impairment1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120113210608845
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120113210608845
HP:0000407HP:0008625Severe sensorineural hearing impairment1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120113210608845
HP:0000407HP:0000410Mixed hearing impairment1ARSG CL E G H22901231183ORPHA141824102610008
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ARSG CL E G H22901231183ORPHA141824102610008
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ARSG CL E G H22901231183ORPHA141824102610008
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ARSG CL E G H22901231183ORPHA141824102610008
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ARSG CL E G H22901231183ORPHA141824102610008
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ARSG CL E G H22901231183ORPHA141824102610008
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ARSG CL E G H22901231183ORPHA141824102610008
HP:0000407HP:0008587Mild neurosensory hearing impairment1ARSG CL E G H22901231183ORPHA141824102610008
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ARSG CL E G H22901231183ORPHA141824102610008
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ARSG CL E G H22901231183ORPHA141824102610008
HP:0000407HP:0011476Profound sensorineural hearing impairment1ARSG CL E G H22901231183ORPHA141824102610008
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ARSG CL E G H22901231183ORPHA141824102610008
HP:0000407HP:0008625Severe sensorineural hearing impairment1ARSG CL E G H22901231183ORPHA141824102610008
HP:0000407HP:0000410Mixed hearing impairment1ATP1A3 CL E G H4781171ORPHA1993801182350
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ATP1A3 CL E G H4781171ORPHA1993801182350
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ATP1A3 CL E G H4781171ORPHA1993801182350
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ATP1A3 CL E G H4781171ORPHA1993801182350
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ATP1A3 CL E G H4781171ORPHA1993801182350
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ATP1A3 CL E G H4781171ORPHA1993801182350
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ATP1A3 CL E G H4781171ORPHA1993801182350
HP:0000407HP:0008587Mild neurosensory hearing impairment1ATP1A3 CL E G H4781171ORPHA1993801182350
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ATP1A3 CL E G H4781171ORPHA1993801182350
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ATP1A3 CL E G H4781171ORPHA1993801182350
HP:0000407HP:0011476Profound sensorineural hearing impairment1ATP1A3 CL E G H4781171ORPHA1993801182350
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ATP1A3 CL E G H4781171ORPHA1993801182350
HP:0000407HP:0008625Severe sensorineural hearing impairment1ATP1A3 CL E G H4781171ORPHA1993801182350
HP:0000407HP:0000410Mixed hearing impairment1ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0000407HP:0008587Mild neurosensory hearing impairment1ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0000407HP:0011476Profound sensorineural hearing impairment1ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0000407HP:0008625Severe sensorineural hearing impairment1ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0000407HP:0000410Mixed hearing impairment1ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1407868300197
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1407868300197
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1407868300197
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1407868300197
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1407868300197
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1407868300197
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1407868300197
HP:0000407HP:0008587Mild neurosensory hearing impairment1ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1407868300197
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1407868300197
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1407868300197
HP:0000407HP:0011476Profound sensorineural hearing impairment1ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1407868300197
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1407868300197
HP:0000407HP:0008625Severe sensorineural hearing impairment1ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1407868300197
HP:0000407HP:0000410Mixed hearing impairment1ATP6V1B1 CL E G H525267300Renal tubular acidosis with progressive nerve deafness267300C0403554OMIM1525853192132
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ATP6V1B1 CL E G H525267300Renal tubular acidosis with progressive nerve deafness267300C0403554OMIM1525853192132
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ATP6V1B1 CL E G H525267300Renal tubular acidosis with progressive nerve deafness267300C0403554OMIM1525853192132
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ATP6V1B1 CL E G H525267300Renal tubular acidosis with progressive nerve deafness267300C0403554OMIM1525853192132
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ATP6V1B1 CL E G H525267300Renal tubular acidosis with progressive nerve deafness267300C0403554OMIM1525853192132
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ATP6V1B1 CL E G H525267300Renal tubular acidosis with progressive nerve deafness267300C0403554OMIM1525853192132
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ATP6V1B1 CL E G H525267300Renal tubular acidosis with progressive nerve deafness267300C0403554OMIM1525853192132
HP:0000407HP:0008587Mild neurosensory hearing impairment1ATP6V1B1 CL E G H525267300Renal tubular acidosis with progressive nerve deafness267300C0403554OMIM1525853192132
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ATP6V1B1 CL E G H525267300Renal tubular acidosis with progressive nerve deafness267300C0403554OMIM1525853192132
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ATP6V1B1 CL E G H525267300Renal tubular acidosis with progressive nerve deafness267300C0403554OMIM1525853192132
HP:0000407HP:0011476Profound sensorineural hearing impairment1ATP6V1B1 CL E G H525267300Renal tubular acidosis with progressive nerve deafness267300C0403554OMIM1525853192132
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ATP6V1B1 CL E G H525267300Renal tubular acidosis with progressive nerve deafness267300C0403554OMIM1525853192132
HP:0000407HP:0008625Severe sensorineural hearing impairment1ATP6V1B1 CL E G H525267300Renal tubular acidosis with progressive nerve deafness267300C0403554OMIM1525853192132
HP:0000407HP:0000410Mixed hearing impairment1ATP6V1B2 CL E G H526124480Deafness, congenital, with onychodystrophy, autosomal dominant124480C2675730OMIM1167854606939
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ATP6V1B2 CL E G H526124480Deafness, congenital, with onychodystrophy, autosomal dominant124480C2675730OMIM1167854606939
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ATP6V1B2 CL E G H526124480Deafness, congenital, with onychodystrophy, autosomal dominant124480C2675730OMIM1167854606939
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ATP6V1B2 CL E G H526124480Deafness, congenital, with onychodystrophy, autosomal dominant124480C2675730OMIM1167854606939
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ATP6V1B2 CL E G H526124480Deafness, congenital, with onychodystrophy, autosomal dominant124480C2675730OMIM1167854606939
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ATP6V1B2 CL E G H526124480Deafness, congenital, with onychodystrophy, autosomal dominant124480C2675730OMIM1167854606939
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ATP6V1B2 CL E G H526124480Deafness, congenital, with onychodystrophy, autosomal dominant124480C2675730OMIM1167854606939
HP:0000407HP:0008587Mild neurosensory hearing impairment1ATP6V1B2 CL E G H526124480Deafness, congenital, with onychodystrophy, autosomal dominant124480C2675730OMIM1167854606939
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ATP6V1B2 CL E G H526124480Deafness, congenital, with onychodystrophy, autosomal dominant124480C2675730OMIM1167854606939
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ATP6V1B2 CL E G H526124480Deafness, congenital, with onychodystrophy, autosomal dominant124480C2675730OMIM1167854606939
HP:0000407HP:0011476Profound sensorineural hearing impairment1ATP6V1B2 CL E G H526124480Deafness, congenital, with onychodystrophy, autosomal dominant124480C2675730OMIM1167854606939
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ATP6V1B2 CL E G H526124480Deafness, congenital, with onychodystrophy, autosomal dominant124480C2675730OMIM1167854606939
HP:0000407HP:0008625Severe sensorineural hearing impairment1ATP6V1B2 CL E G H526124480Deafness, congenital, with onychodystrophy, autosomal dominant124480C2675730OMIM1167854606939
HP:0000407HP:0000410Mixed hearing impairment1ATP6V1B2 CL E G H526616455Zimmermann-Laband syndrome 2616455C4225321OMIM1167854606939
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ATP6V1B2 CL E G H526616455Zimmermann-Laband syndrome 2616455C4225321OMIM1167854606939
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ATP6V1B2 CL E G H526616455Zimmermann-Laband syndrome 2616455C4225321OMIM1167854606939
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ATP6V1B2 CL E G H526616455Zimmermann-Laband syndrome 2616455C4225321OMIM1167854606939
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ATP6V1B2 CL E G H526616455Zimmermann-Laband syndrome 2616455C4225321OMIM1167854606939
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ATP6V1B2 CL E G H526616455Zimmermann-Laband syndrome 2616455C4225321OMIM1167854606939
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ATP6V1B2 CL E G H526616455Zimmermann-Laband syndrome 2616455C4225321OMIM1167854606939
HP:0000407HP:0008587Mild neurosensory hearing impairment1ATP6V1B2 CL E G H526616455Zimmermann-Laband syndrome 2616455C4225321OMIM1167854606939
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ATP6V1B2 CL E G H526616455Zimmermann-Laband syndrome 2616455C4225321OMIM1167854606939
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ATP6V1B2 CL E G H526616455Zimmermann-Laband syndrome 2616455C4225321OMIM1167854606939
HP:0000407HP:0011476Profound sensorineural hearing impairment1ATP6V1B2 CL E G H526616455Zimmermann-Laband syndrome 2616455C4225321OMIM1167854606939
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ATP6V1B2 CL E G H526616455Zimmermann-Laband syndrome 2616455C4225321OMIM1167854606939
HP:0000407HP:0008625Severe sensorineural hearing impairment1ATP6V1B2 CL E G H526616455Zimmermann-Laband syndrome 2616455C4225321OMIM1167854606939
HP:0000407HP:0000410Mixed hearing impairment1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0000407HP:0008587Mild neurosensory hearing impairment1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0000407HP:0011476Profound sensorineural hearing impairment1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0000407HP:0008625Severe sensorineural hearing impairment1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0000407HP:0000410Mixed hearing impairment1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11925886300032
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11925886300032
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11925886300032
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11925886300032
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11925886300032
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11925886300032
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11925886300032
HP:0000407HP:0008587Mild neurosensory hearing impairment1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11925886300032
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11925886300032
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11925886300032
HP:0000407HP:0011476Profound sensorineural hearing impairment1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11925886300032
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11925886300032
HP:0000407HP:0008625Severe sensorineural hearing impairment1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11925886300032
HP:0000407HP:0000410Mixed hearing impairment1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0000407HP:0008527Congenital sensorineural hearing impairment1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0000407HP:0008587Mild neurosensory hearing impairment1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0000407HP:0008504Moderate sensorineural hearing impairment1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0000407HP:0011476Profound sensorineural hearing impairment1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0000407HP:0000408Progressive sensorineural hearing impairment1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0000407HP:0008625Severe sensorineural hearing impairment1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0000407HP:0000410Mixed hearing impairment1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1894967606151
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1894967606151
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1894967606151
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1894967606151
HP:0000407HP:0008527Congenital sensorineural hearing impairment1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1894967606151
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1894967606151
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1894967606151
HP:0000407HP:0008587Mild neurosensory hearing impairment1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1894967606151
HP:0000407HP:0008504Moderate sensorineural hearing impairment1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1894967606151
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1894967606151
HP:0000407HP:0011476Profound sensorineural hearing impairment1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1894967606151
HP:0000407HP:0000408Progressive sensorineural hearing impairment1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1894967606151
HP:0000407HP:0008625Severe sensorineural hearing impairment1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1894967606151
HP:0000407HP:0000410Mixed hearing impairment1BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM137516695300398
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM137516695300398
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM137516695300398
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM137516695300398
HP:0000407HP:0008527Congenital sensorineural hearing impairment1BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM137516695300398
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM137516695300398
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM137516695300398
HP:0000407HP:0008587Mild neurosensory hearing impairment1BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM137516695300398
HP:0000407HP:0008504Moderate sensorineural hearing impairment1BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM137516695300398
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM137516695300398
HP:0000407HP:0011476Profound sensorineural hearing impairment1BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM137516695300398
HP:0000407HP:0000408Progressive sensorineural hearing impairment1BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM137516695300398
HP:0000407HP:0008625Severe sensorineural hearing impairment1BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM137516695300398
HP:0000407HP:0000410Mixed hearing impairment1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM168820893300485
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM168820893300485
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM168820893300485
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM168820893300485
HP:0000407HP:0008527Congenital sensorineural hearing impairment1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM168820893300485
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM168820893300485
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM168820893300485
HP:0000407HP:0008587Mild neurosensory hearing impairment1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM168820893300485
HP:0000407HP:0008504Moderate sensorineural hearing impairment1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM168820893300485
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM168820893300485
HP:0000407HP:0011476Profound sensorineural hearing impairment1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM168820893300485
HP:0000407HP:0000408Progressive sensorineural hearing impairment1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM168820893300485
HP:0000407HP:0008625Severe sensorineural hearing impairment1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM168820893300485
HP:0000407HP:0000410Mixed hearing impairment1BCS1L CL E G H617123ORPHA14131020603647
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1BCS1L CL E G H617123ORPHA14131020603647
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1BCS1L CL E G H617123ORPHA14131020603647
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1BCS1L CL E G H617123ORPHA14131020603647
HP:0000407HP:0008527Congenital sensorineural hearing impairment1BCS1L CL E G H617123ORPHA14131020603647
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1BCS1L CL E G H617123ORPHA14131020603647
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1BCS1L CL E G H617123ORPHA14131020603647
HP:0000407HP:0008587Mild neurosensory hearing impairment1BCS1L CL E G H617123ORPHA14131020603647
HP:0000407HP:0008504Moderate sensorineural hearing impairment1BCS1L CL E G H617123ORPHA14131020603647
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1BCS1L CL E G H617123ORPHA14131020603647
HP:0000407HP:0011476Profound sensorineural hearing impairment1BCS1L CL E G H617123ORPHA14131020603647
HP:0000407HP:0000408Progressive sensorineural hearing impairment1BCS1L CL E G H617123ORPHA14131020603647
HP:0000407HP:0008625Severe sensorineural hearing impairment1BCS1L CL E G H617123ORPHA14131020603647
HP:0000407HP:0000410Mixed hearing impairment1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0000407HP:0008527Congenital sensorineural hearing impairment1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0000407HP:0008587Mild neurosensory hearing impairment1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0000407HP:0008504Moderate sensorineural hearing impairment1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0000407HP:0011476Profound sensorineural hearing impairment1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0000407HP:0000408Progressive sensorineural hearing impairment1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0000407HP:0008625Severe sensorineural hearing impairment1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0000407HP:0000410Mixed hearing impairment1BCS1L CL E G H617262000Pili torti-deafness syndrome262000C0266006OMIM14131020603647
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1BCS1L CL E G H617262000Pili torti-deafness syndrome262000C0266006OMIM14131020603647
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1BCS1L CL E G H617262000Pili torti-deafness syndrome262000C0266006OMIM14131020603647
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1BCS1L CL E G H617262000Pili torti-deafness syndrome262000C0266006OMIM14131020603647
HP:0000407HP:0008527Congenital sensorineural hearing impairment1BCS1L CL E G H617262000Pili torti-deafness syndrome262000C0266006OMIM14131020603647
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1BCS1L CL E G H617262000Pili torti-deafness syndrome262000C0266006OMIM14131020603647
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1BCS1L CL E G H617262000Pili torti-deafness syndrome262000C0266006OMIM14131020603647
HP:0000407HP:0008587Mild neurosensory hearing impairment1BCS1L CL E G H617262000Pili torti-deafness syndrome262000C0266006OMIM14131020603647
HP:0000407HP:0008504Moderate sensorineural hearing impairment1BCS1L CL E G H617262000Pili torti-deafness syndrome262000C0266006OMIM14131020603647
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1BCS1L CL E G H617262000Pili torti-deafness syndrome262000C0266006OMIM14131020603647
HP:0000407HP:0011476Profound sensorineural hearing impairment1BCS1L CL E G H617262000Pili torti-deafness syndrome262000C0266006OMIM14131020603647
HP:0000407HP:0000408Progressive sensorineural hearing impairment1BCS1L CL E G H617262000Pili torti-deafness syndrome262000C0266006OMIM14131020603647
HP:0000407HP:0008625Severe sensorineural hearing impairment1BCS1L CL E G H617262000Pili torti-deafness syndrome262000C0266006OMIM14131020603647
HP:0000407HP:0000410Mixed hearing impairment1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA179312703607854
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA179312703607854
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA179312703607854
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA179312703607854
HP:0000407HP:0008527Congenital sensorineural hearing impairment1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA179312703607854
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA179312703607854
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA179312703607854
HP:0000407HP:0008587Mild neurosensory hearing impairment1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA179312703607854
HP:0000407HP:0008504Moderate sensorineural hearing impairment1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA179312703607854
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA179312703607854
HP:0000407HP:0011476Profound sensorineural hearing impairment1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA179312703607854
HP:0000407HP:0000408Progressive sensorineural hearing impairment1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA179312703607854
HP:0000407HP:0008625Severe sensorineural hearing impairment1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA179312703607854
HP:0000407HP:0000410Mixed hearing impairment1BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM111821097164757
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM111821097164757
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM111821097164757
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM111821097164757
HP:0000407HP:0008527Congenital sensorineural hearing impairment1BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM111821097164757
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM111821097164757
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM111821097164757
HP:0000407HP:0008587Mild neurosensory hearing impairment1BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM111821097164757
HP:0000407HP:0008504Moderate sensorineural hearing impairment1BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM111821097164757
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM111821097164757
HP:0000407HP:0011476Profound sensorineural hearing impairment1BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM111821097164757
HP:0000407HP:0000408Progressive sensorineural hearing impairment1BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM111821097164757
HP:0000407HP:0008625Severe sensorineural hearing impairment1BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM111821097164757
HP:0000407HP:0000410Mixed hearing impairment1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM111821097164757
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM111821097164757
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM111821097164757
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM111821097164757
HP:0000407HP:0008527Congenital sensorineural hearing impairment1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM111821097164757
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM111821097164757
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM111821097164757
HP:0000407HP:0008587Mild neurosensory hearing impairment1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM111821097164757
HP:0000407HP:0008504Moderate sensorineural hearing impairment1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM111821097164757
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM111821097164757
HP:0000407HP:0011476Profound sensorineural hearing impairment1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM111821097164757
HP:0000407HP:0000408Progressive sensorineural hearing impairment1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM111821097164757
HP:0000407HP:0008625Severe sensorineural hearing impairment1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM111821097164757
HP:0000407HP:0000410Mixed hearing impairment1BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM130316512606412
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM130316512606412
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM130316512606412
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM130316512606412
HP:0000407HP:0008527Congenital sensorineural hearing impairment1BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM130316512606412
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM130316512606412
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM130316512606412
HP:0000407HP:0008587Mild neurosensory hearing impairment1BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM130316512606412
HP:0000407HP:0008504Moderate sensorineural hearing impairment1BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM130316512606412
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM130316512606412
HP:0000407HP:0011476Profound sensorineural hearing impairment1BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM130316512606412
HP:0000407HP:0000408Progressive sensorineural hearing impairment1BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM130316512606412
HP:0000407HP:0008625Severe sensorineural hearing impairment1BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM130316512606412
HP:0000407HP:0000410Mixed hearing impairment1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM15981122609019
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM15981122609019
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM15981122609019
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM15981122609019
HP:0000407HP:0008527Congenital sensorineural hearing impairment1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM15981122609019
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM15981122609019
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM15981122609019
HP:0000407HP:0008587Mild neurosensory hearing impairment1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM15981122609019
HP:0000407HP:0008504Moderate sensorineural hearing impairment1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM15981122609019
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM15981122609019
HP:0000407HP:0011476Profound sensorineural hearing impairment1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM15981122609019
HP:0000407HP:0000408Progressive sensorineural hearing impairment1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM15981122609019
HP:0000407HP:0008625Severe sensorineural hearing impairment1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM15981122609019
HP:0000407HP:0000410Mixed hearing impairment1BTK CL E G H69547ORPHA16751133300300
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1BTK CL E G H69547ORPHA16751133300300
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1BTK CL E G H69547ORPHA16751133300300
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1BTK CL E G H69547ORPHA16751133300300
HP:0000407HP:0008527Congenital sensorineural hearing impairment1BTK CL E G H69547ORPHA16751133300300
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1BTK CL E G H69547ORPHA16751133300300
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1BTK CL E G H69547ORPHA16751133300300
HP:0000407HP:0008587Mild neurosensory hearing impairment1BTK CL E G H69547ORPHA16751133300300
HP:0000407HP:0008504Moderate sensorineural hearing impairment1BTK CL E G H69547ORPHA16751133300300
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1BTK CL E G H69547ORPHA16751133300300
HP:0000407HP:0011476Profound sensorineural hearing impairment1BTK CL E G H69547ORPHA16751133300300
HP:0000407HP:0000408Progressive sensorineural hearing impairment1BTK CL E G H69547ORPHA16751133300300
HP:0000407HP:0008625Severe sensorineural hearing impairment1BTK CL E G H69547ORPHA16751133300300
HP:0000407HP:0000410Mixed hearing impairment1C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127232614477
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127232614477
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127232614477
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127232614477
HP:0000407HP:0008527Congenital sensorineural hearing impairment1C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127232614477
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127232614477
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127232614477
HP:0000407HP:0008587Mild neurosensory hearing impairment1C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127232614477
HP:0000407HP:0008504Moderate sensorineural hearing impairment1C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127232614477
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127232614477
HP:0000407HP:0011476Profound sensorineural hearing impairment1C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127232614477
HP:0000407HP:0000408Progressive sensorineural hearing impairment1C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127232614477
HP:0000407HP:0008625Severe sensorineural hearing impairment1C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127232614477
HP:0000407HP:0000410Mixed hearing impairment1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12831375114760
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12831375114760
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12831375114760
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12831375114760
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12831375114760
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12831375114760
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12831375114760
HP:0000407HP:0008587Mild neurosensory hearing impairment1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12831375114760
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12831375114760
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12831375114760
HP:0000407HP:0011476Profound sensorineural hearing impairment1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12831375114760
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12831375114760
HP:0000407HP:0008625Severe sensorineural hearing impairment1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12831375114760
HP:0000407HP:0000410Mixed hearing impairment1CASK CL E G H8573163937ORPHA18441497300172
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CASK CL E G H8573163937ORPHA18441497300172
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CASK CL E G H8573163937ORPHA18441497300172
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CASK CL E G H8573163937ORPHA18441497300172
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CASK CL E G H8573163937ORPHA18441497300172
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CASK CL E G H8573163937ORPHA18441497300172
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CASK CL E G H8573163937ORPHA18441497300172
HP:0000407HP:0008587Mild neurosensory hearing impairment1CASK CL E G H8573163937ORPHA18441497300172
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CASK CL E G H8573163937ORPHA18441497300172
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CASK CL E G H8573163937ORPHA18441497300172
HP:0000407HP:0011476Profound sensorineural hearing impairment1CASK CL E G H8573163937ORPHA18441497300172
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CASK CL E G H8573163937ORPHA18441497300172
HP:0000407HP:0008625Severe sensorineural hearing impairment1CASK CL E G H8573163937ORPHA18441497300172
HP:0000407HP:0000410Mixed hearing impairment1CATSPER2 CL E G H11715594064ORPHA114018810607249
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CATSPER2 CL E G H11715594064ORPHA114018810607249
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CATSPER2 CL E G H11715594064ORPHA114018810607249
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CATSPER2 CL E G H11715594064ORPHA114018810607249
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CATSPER2 CL E G H11715594064ORPHA114018810607249
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CATSPER2 CL E G H11715594064ORPHA114018810607249
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CATSPER2 CL E G H11715594064ORPHA114018810607249
HP:0000407HP:0008587Mild neurosensory hearing impairment1CATSPER2 CL E G H11715594064ORPHA114018810607249
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CATSPER2 CL E G H11715594064ORPHA114018810607249
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CATSPER2 CL E G H11715594064ORPHA114018810607249
HP:0000407HP:0011476Profound sensorineural hearing impairment1CATSPER2 CL E G H11715594064ORPHA114018810607249
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CATSPER2 CL E G H11715594064ORPHA114018810607249
HP:0000407HP:0008625Severe sensorineural hearing impairment1CATSPER2 CL E G H11715594064ORPHA114018810607249
HP:0000407HP:0000410Mixed hearing impairment1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM154029426612753
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM154029426612753
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM154029426612753
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM154029426612753
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM154029426612753
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM154029426612753
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM154029426612753
HP:0000407HP:0008587Mild neurosensory hearing impairment1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM154029426612753
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM154029426612753
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM154029426612753
HP:0000407HP:0011476Profound sensorineural hearing impairment1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM154029426612753
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM154029426612753
HP:0000407HP:0008625Severe sensorineural hearing impairment1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM154029426612753
HP:0000407HP:0000410Mixed hearing impairment1CCDC50 CL E G H152137607453Deafness, autosomal dominant 44607453C1843895OMIM125618111611051
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CCDC50 CL E G H152137607453Deafness, autosomal dominant 44607453C1843895OMIM125618111611051
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CCDC50 CL E G H152137607453Deafness, autosomal dominant 44607453C1843895OMIM125618111611051
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CCDC50 CL E G H152137607453Deafness, autosomal dominant 44607453C1843895OMIM125618111611051
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CCDC50 CL E G H152137607453Deafness, autosomal dominant 44607453C1843895OMIM125618111611051
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CCDC50 CL E G H152137607453Deafness, autosomal dominant 44607453C1843895OMIM125618111611051
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CCDC50 CL E G H152137607453Deafness, autosomal dominant 44607453C1843895OMIM125618111611051
HP:0000407HP:0008587Mild neurosensory hearing impairment1CCDC50 CL E G H152137607453Deafness, autosomal dominant 44607453C1843895OMIM125618111611051
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CCDC50 CL E G H152137607453Deafness, autosomal dominant 44607453C1843895OMIM125618111611051
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CCDC50 CL E G H152137607453Deafness, autosomal dominant 44607453C1843895OMIM125618111611051
HP:0000407HP:0011476Profound sensorineural hearing impairment1CCDC50 CL E G H152137607453Deafness, autosomal dominant 44607453C1843895OMIM125618111611051
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CCDC50 CL E G H152137607453Deafness, autosomal dominant 44607453C1843895OMIM125618111611051
HP:0000407HP:0008625Severe sensorineural hearing impairment1CCDC50 CL E G H152137607453Deafness, autosomal dominant 44607453C1843895OMIM125618111611051
HP:0000407HP:0000410Mixed hearing impairment1CD151 CL E G H977609057Nephropathy with pretibial epidermolysis bullosa and deafness609057C1836823OMIM11671630602243
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CD151 CL E G H977609057Nephropathy with pretibial epidermolysis bullosa and deafness609057C1836823OMIM11671630602243
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CD151 CL E G H977609057Nephropathy with pretibial epidermolysis bullosa and deafness609057C1836823OMIM11671630602243
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CD151 CL E G H977609057Nephropathy with pretibial epidermolysis bullosa and deafness609057C1836823OMIM11671630602243
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CD151 CL E G H977609057Nephropathy with pretibial epidermolysis bullosa and deafness609057C1836823OMIM11671630602243
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CD151 CL E G H977609057Nephropathy with pretibial epidermolysis bullosa and deafness609057C1836823OMIM11671630602243
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CD151 CL E G H977609057Nephropathy with pretibial epidermolysis bullosa and deafness609057C1836823OMIM11671630602243
HP:0000407HP:0008587Mild neurosensory hearing impairment1CD151 CL E G H977609057Nephropathy with pretibial epidermolysis bullosa and deafness609057C1836823OMIM11671630602243
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CD151 CL E G H977609057Nephropathy with pretibial epidermolysis bullosa and deafness609057C1836823OMIM11671630602243
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CD151 CL E G H977609057Nephropathy with pretibial epidermolysis bullosa and deafness609057C1836823OMIM11671630602243
HP:0000407HP:0011476Profound sensorineural hearing impairment1CD151 CL E G H977609057Nephropathy with pretibial epidermolysis bullosa and deafness609057C1836823OMIM11671630602243
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CD151 CL E G H977609057Nephropathy with pretibial epidermolysis bullosa and deafness609057C1836823OMIM11671630602243
HP:0000407HP:0008625Severe sensorineural hearing impairment1CD151 CL E G H977609057Nephropathy with pretibial epidermolysis bullosa and deafness609057C1836823OMIM11671630602243
HP:0000407HP:0000410Mixed hearing impairment1CD164 CL E G H8763616969Deafness, autosomal dominant 66616969C4283893OMIM11071632603356
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CD164 CL E G H8763616969Deafness, autosomal dominant 66616969C4283893OMIM11071632603356
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CD164 CL E G H8763616969Deafness, autosomal dominant 66616969C4283893OMIM11071632603356
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CD164 CL E G H8763616969Deafness, autosomal dominant 66616969C4283893OMIM11071632603356
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CD164 CL E G H8763616969Deafness, autosomal dominant 66616969C4283893OMIM11071632603356
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CD164 CL E G H8763616969Deafness, autosomal dominant 66616969C4283893OMIM11071632603356
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CD164 CL E G H8763616969Deafness, autosomal dominant 66616969C4283893OMIM11071632603356
HP:0000407HP:0008587Mild neurosensory hearing impairment1CD164 CL E G H8763616969Deafness, autosomal dominant 66616969C4283893OMIM11071632603356
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CD164 CL E G H8763616969Deafness, autosomal dominant 66616969C4283893OMIM11071632603356
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CD164 CL E G H8763616969Deafness, autosomal dominant 66616969C4283893OMIM11071632603356
HP:0000407HP:0011476Profound sensorineural hearing impairment1CD164 CL E G H8763616969Deafness, autosomal dominant 66616969C4283893OMIM11071632603356
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CD164 CL E G H8763616969Deafness, autosomal dominant 66616969C4283893OMIM11071632603356
HP:0000407HP:0008625Severe sensorineural hearing impairment1CD164 CL E G H8763616969Deafness, autosomal dominant 66616969C4283893OMIM11071632603356
HP:0000407HP:0000410Mixed hearing impairment1CDH23 CL E G H64072231169ORPHA1452213733605516
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CDH23 CL E G H64072231169ORPHA1452213733605516
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CDH23 CL E G H64072231169ORPHA1452213733605516
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CDH23 CL E G H64072231169ORPHA1452213733605516
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CDH23 CL E G H64072231169ORPHA1452213733605516
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CDH23 CL E G H64072231169ORPHA1452213733605516
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CDH23 CL E G H64072231169ORPHA1452213733605516
HP:0000407HP:0008587Mild neurosensory hearing impairment1CDH23 CL E G H64072231169ORPHA1452213733605516
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CDH23 CL E G H64072231169ORPHA1452213733605516
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CDH23 CL E G H64072231169ORPHA1452213733605516
HP:0000407HP:0011476Profound sensorineural hearing impairment1CDH23 CL E G H64072231169ORPHA1452213733605516
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CDH23 CL E G H64072231169ORPHA1452213733605516
HP:0000407HP:0008625Severe sensorineural hearing impairment1CDH23 CL E G H64072231169ORPHA1452213733605516
HP:0000407HP:0000410Mixed hearing impairment1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA189014550609502
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA189014550609502
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA189014550609502
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA189014550609502
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA189014550609502
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA189014550609502
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA189014550609502
HP:0000407HP:0008587Mild neurosensory hearing impairment1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA189014550609502
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA189014550609502
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA189014550609502
HP:0000407HP:0011476Profound sensorineural hearing impairment1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA189014550609502
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA189014550609502
HP:0000407HP:0008625Severe sensorineural hearing impairment1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA189014550609502
HP:0000407HP:0000410Mixed hearing impairment1CEP78 CL E G H84131231183ORPHA155925740617110
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CEP78 CL E G H84131231183ORPHA155925740617110
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CEP78 CL E G H84131231183ORPHA155925740617110
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CEP78 CL E G H84131231183ORPHA155925740617110
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CEP78 CL E G H84131231183ORPHA155925740617110
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CEP78 CL E G H84131231183ORPHA155925740617110
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CEP78 CL E G H84131231183ORPHA155925740617110
HP:0000407HP:0008587Mild neurosensory hearing impairment1CEP78 CL E G H84131231183ORPHA155925740617110
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CEP78 CL E G H84131231183ORPHA155925740617110
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CEP78 CL E G H84131231183ORPHA155925740617110
HP:0000407HP:0011476Profound sensorineural hearing impairment1CEP78 CL E G H84131231183ORPHA155925740617110
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CEP78 CL E G H84131231183ORPHA155925740617110
HP:0000407HP:0008625Severe sensorineural hearing impairment1CEP78 CL E G H84131231183ORPHA155925740617110
HP:0000407HP:0000410Mixed hearing impairment1CEP78 CL E G H84131617236Cone-rod dystrophy and hearing loss617236C4310657OMIM155925740617110
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CEP78 CL E G H84131617236Cone-rod dystrophy and hearing loss617236C4310657OMIM155925740617110
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CEP78 CL E G H84131617236Cone-rod dystrophy and hearing loss617236C4310657OMIM155925740617110
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CEP78 CL E G H84131617236Cone-rod dystrophy and hearing loss617236C4310657OMIM155925740617110
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CEP78 CL E G H84131617236Cone-rod dystrophy and hearing loss617236C4310657OMIM155925740617110
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CEP78 CL E G H84131617236Cone-rod dystrophy and hearing loss617236C4310657OMIM155925740617110
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CEP78 CL E G H84131617236Cone-rod dystrophy and hearing loss617236C4310657OMIM155925740617110
HP:0000407HP:0008587Mild neurosensory hearing impairment1CEP78 CL E G H84131617236Cone-rod dystrophy and hearing loss617236C4310657OMIM155925740617110
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CEP78 CL E G H84131617236Cone-rod dystrophy and hearing loss617236C4310657OMIM155925740617110
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CEP78 CL E G H84131617236Cone-rod dystrophy and hearing loss617236C4310657OMIM155925740617110
HP:0000407HP:0011476Profound sensorineural hearing impairment1CEP78 CL E G H84131617236Cone-rod dystrophy and hearing loss617236C4310657OMIM155925740617110
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CEP78 CL E G H84131617236Cone-rod dystrophy and hearing loss617236C4310657OMIM155925740617110
HP:0000407HP:0008625Severe sensorineural hearing impairment1CEP78 CL E G H84131617236Cone-rod dystrophy and hearing loss617236C4310657OMIM155925740617110
HP:0000407HP:0000410Mixed hearing impairment1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178221699608381
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178221699608381
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178221699608381
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178221699608381
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178221699608381
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178221699608381
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178221699608381
HP:0000407HP:0008587Mild neurosensory hearing impairment1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178221699608381
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178221699608381
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178221699608381
HP:0000407HP:0011476Profound sensorineural hearing impairment1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178221699608381
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178221699608381
HP:0000407HP:0008625Severe sensorineural hearing impairment1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178221699608381
HP:0000407HP:0000410Mixed hearing impairment1CHD7 CL E G H55636612370Kallmann syndrome 5612370C2675302OMIM1293020626608892
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CHD7 CL E G H55636612370Kallmann syndrome 5612370C2675302OMIM1293020626608892
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CHD7 CL E G H55636612370Kallmann syndrome 5612370C2675302OMIM1293020626608892
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CHD7 CL E G H55636612370Kallmann syndrome 5612370C2675302OMIM1293020626608892
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CHD7 CL E G H55636612370Kallmann syndrome 5612370C2675302OMIM1293020626608892
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CHD7 CL E G H55636612370Kallmann syndrome 5612370C2675302OMIM1293020626608892
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CHD7 CL E G H55636612370Kallmann syndrome 5612370C2675302OMIM1293020626608892
HP:0000407HP:0008587Mild neurosensory hearing impairment1CHD7 CL E G H55636612370Kallmann syndrome 5612370C2675302OMIM1293020626608892
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CHD7 CL E G H55636612370Kallmann syndrome 5612370C2675302OMIM1293020626608892
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CHD7 CL E G H55636612370Kallmann syndrome 5612370C2675302OMIM1293020626608892
HP:0000407HP:0011476Profound sensorineural hearing impairment1CHD7 CL E G H55636612370Kallmann syndrome 5612370C2675302OMIM1293020626608892
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CHD7 CL E G H55636612370Kallmann syndrome 5612370C2675302OMIM1293020626608892
HP:0000407HP:0008625Severe sensorineural hearing impairment1CHD7 CL E G H55636612370Kallmann syndrome 5612370C2675302OMIM1293020626608892
HP:0000407HP:0000410Mixed hearing impairment1CHN1 CL E G H1123233D ercole syndromeORPHA11351943118423
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CHN1 CL E G H1123233D ercole syndromeORPHA11351943118423
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CHN1 CL E G H1123233D ercole syndromeORPHA11351943118423
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CHN1 CL E G H1123233D ercole syndromeORPHA11351943118423
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CHN1 CL E G H1123233D ercole syndromeORPHA11351943118423
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CHN1 CL E G H1123233D ercole syndromeORPHA11351943118423
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CHN1 CL E G H1123233D ercole syndromeORPHA11351943118423
HP:0000407HP:0008587Mild neurosensory hearing impairment1CHN1 CL E G H1123233D ercole syndromeORPHA11351943118423
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CHN1 CL E G H1123233D ercole syndromeORPHA11351943118423
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CHN1 CL E G H1123233D ercole syndromeORPHA11351943118423
HP:0000407HP:0011476Profound sensorineural hearing impairment1CHN1 CL E G H1123233D ercole syndromeORPHA11351943118423
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CHN1 CL E G H1123233D ercole syndromeORPHA11351943118423
HP:0000407HP:0008625Severe sensorineural hearing impairment1CHN1 CL E G H1123233D ercole syndromeORPHA11351943118423
HP:0000407HP:0000410Mixed hearing impairment1CIB2 CL E G H10518231169ORPHA122724579605564
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CIB2 CL E G H10518231169ORPHA122724579605564
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CIB2 CL E G H10518231169ORPHA122724579605564
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CIB2 CL E G H10518231169ORPHA122724579605564
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CIB2 CL E G H10518231169ORPHA122724579605564
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CIB2 CL E G H10518231169ORPHA122724579605564
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CIB2 CL E G H10518231169ORPHA122724579605564
HP:0000407HP:0008587Mild neurosensory hearing impairment1CIB2 CL E G H10518231169ORPHA122724579605564
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CIB2 CL E G H10518231169ORPHA122724579605564
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CIB2 CL E G H10518231169ORPHA122724579605564
HP:0000407HP:0011476Profound sensorineural hearing impairment1CIB2 CL E G H10518231169ORPHA122724579605564
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CIB2 CL E G H10518231169ORPHA122724579605564
HP:0000407HP:0008625Severe sensorineural hearing impairment1CIB2 CL E G H10518231169ORPHA122724579605564
HP:0000407HP:0000410Mixed hearing impairment1CISD2 CL E G H4938563463ORPHA17124212611507
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CISD2 CL E G H4938563463ORPHA17124212611507
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CISD2 CL E G H4938563463ORPHA17124212611507
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CISD2 CL E G H4938563463ORPHA17124212611507
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CISD2 CL E G H4938563463ORPHA17124212611507
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CISD2 CL E G H4938563463ORPHA17124212611507
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CISD2 CL E G H4938563463ORPHA17124212611507
HP:0000407HP:0008587Mild neurosensory hearing impairment1CISD2 CL E G H4938563463ORPHA17124212611507
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CISD2 CL E G H4938563463ORPHA17124212611507
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CISD2 CL E G H4938563463ORPHA17124212611507
HP:0000407HP:0011476Profound sensorineural hearing impairment1CISD2 CL E G H4938563463ORPHA17124212611507
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CISD2 CL E G H4938563463ORPHA17124212611507
HP:0000407HP:0008625Severe sensorineural hearing impairment1CISD2 CL E G H4938563463ORPHA17124212611507
HP:0000407HP:0000410Mixed hearing impairment1CISD2 CL E G H493856604928Wolfram syndrome 2604928C1858028OMIM17124212611507
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CISD2 CL E G H493856604928Wolfram syndrome 2604928C1858028OMIM17124212611507
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CISD2 CL E G H493856604928Wolfram syndrome 2604928C1858028OMIM17124212611507
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CISD2 CL E G H493856604928Wolfram syndrome 2604928C1858028OMIM17124212611507
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CISD2 CL E G H493856604928Wolfram syndrome 2604928C1858028OMIM17124212611507
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CISD2 CL E G H493856604928Wolfram syndrome 2604928C1858028OMIM17124212611507
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CISD2 CL E G H493856604928Wolfram syndrome 2604928C1858028OMIM17124212611507
HP:0000407HP:0008587Mild neurosensory hearing impairment1CISD2 CL E G H493856604928Wolfram syndrome 2604928C1858028OMIM17124212611507
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CISD2 CL E G H493856604928Wolfram syndrome 2604928C1858028OMIM17124212611507
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CISD2 CL E G H493856604928Wolfram syndrome 2604928C1858028OMIM17124212611507
HP:0000407HP:0011476Profound sensorineural hearing impairment1CISD2 CL E G H493856604928Wolfram syndrome 2604928C1858028OMIM17124212611507
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CISD2 CL E G H493856604928Wolfram syndrome 2604928C1858028OMIM17124212611507
HP:0000407HP:0008625Severe sensorineural hearing impairment1CISD2 CL E G H493856604928Wolfram syndrome 2604928C1858028OMIM17124212611507
HP:0000407HP:0000410Mixed hearing impairment1CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM12302026602024
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM12302026602024
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM12302026602024
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM12302026602024
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM12302026602024
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM12302026602024
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM12302026602024
HP:0000407HP:0008587Mild neurosensory hearing impairment1CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM12302026602024
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM12302026602024
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM12302026602024
HP:0000407HP:0011476Profound sensorineural hearing impairment1CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM12302026602024
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM12302026602024
HP:0000407HP:0008625Severe sensorineural hearing impairment1CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM12302026602024
HP:0000407HP:0000410Mixed hearing impairment1CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM14782027602023
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM14782027602023
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM14782027602023
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM14782027602023
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM14782027602023
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM14782027602023
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM14782027602023
HP:0000407HP:0008587Mild neurosensory hearing impairment1CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM14782027602023
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM14782027602023
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM14782027602023
HP:0000407HP:0011476Profound sensorineural hearing impairment1CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM14782027602023
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM14782027602023
HP:0000407HP:0008625Severe sensorineural hearing impairment1CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM14782027602023
HP:0000407HP:0000410Mixed hearing impairment1CLDN14 CL E G H23562614035Deafness, autosomal recessive 29614035C3279660OMIM11972035605608
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CLDN14 CL E G H23562614035Deafness, autosomal recessive 29614035C3279660OMIM11972035605608
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CLDN14 CL E G H23562614035Deafness, autosomal recessive 29614035C3279660OMIM11972035605608
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CLDN14 CL E G H23562614035Deafness, autosomal recessive 29614035C3279660OMIM11972035605608
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CLDN14 CL E G H23562614035Deafness, autosomal recessive 29614035C3279660OMIM11972035605608
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CLDN14 CL E G H23562614035Deafness, autosomal recessive 29614035C3279660OMIM11972035605608
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CLDN14 CL E G H23562614035Deafness, autosomal recessive 29614035C3279660OMIM11972035605608
HP:0000407HP:0008587Mild neurosensory hearing impairment1CLDN14 CL E G H23562614035Deafness, autosomal recessive 29614035C3279660OMIM11972035605608
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CLDN14 CL E G H23562614035Deafness, autosomal recessive 29614035C3279660OMIM11972035605608
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CLDN14 CL E G H23562614035Deafness, autosomal recessive 29614035C3279660OMIM11972035605608
HP:0000407HP:0011476Profound sensorineural hearing impairment1CLDN14 CL E G H23562614035Deafness, autosomal recessive 29614035C3279660OMIM11972035605608
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CLDN14 CL E G H23562614035Deafness, autosomal recessive 29614035C3279660OMIM11972035605608
HP:0000407HP:0008625Severe sensorineural hearing impairment1CLDN14 CL E G H23562614035Deafness, autosomal recessive 29614035C3279660OMIM11972035605608
HP:0000407HP:0000410Mixed hearing impairment1CLIC5 CL E G H53405616042Deafness, autosomal recessive 103616042C4015050OMIM112913517607293
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CLIC5 CL E G H53405616042Deafness, autosomal recessive 103616042C4015050OMIM112913517607293
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CLIC5 CL E G H53405616042Deafness, autosomal recessive 103616042C4015050OMIM112913517607293
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CLIC5 CL E G H53405616042Deafness, autosomal recessive 103616042C4015050OMIM112913517607293
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CLIC5 CL E G H53405616042Deafness, autosomal recessive 103616042C4015050OMIM112913517607293
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CLIC5 CL E G H53405616042Deafness, autosomal recessive 103616042C4015050OMIM112913517607293
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CLIC5 CL E G H53405616042Deafness, autosomal recessive 103616042C4015050OMIM112913517607293
HP:0000407HP:0008587Mild neurosensory hearing impairment1CLIC5 CL E G H53405616042Deafness, autosomal recessive 103616042C4015050OMIM112913517607293
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CLIC5 CL E G H53405616042Deafness, autosomal recessive 103616042C4015050OMIM112913517607293
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CLIC5 CL E G H53405616042Deafness, autosomal recessive 103616042C4015050OMIM112913517607293
HP:0000407HP:0011476Profound sensorineural hearing impairment1CLIC5 CL E G H53405616042Deafness, autosomal recessive 103616042C4015050OMIM112913517607293
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CLIC5 CL E G H53405616042Deafness, autosomal recessive 103616042C4015050OMIM112913517607293
HP:0000407HP:0008625Severe sensorineural hearing impairment1CLIC5 CL E G H53405616042Deafness, autosomal recessive 103616042C4015050OMIM112913517607293
HP:0000407HP:0000410Mixed hearing impairment1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0000407HP:0008587Mild neurosensory hearing impairment1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0000407HP:0011476Profound sensorineural hearing impairment1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0000407HP:0008625Severe sensorineural hearing impairment1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0000407HP:0000410Mixed hearing impairment1CLRN1 CL E G H7401231183ORPHA135812605606397
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CLRN1 CL E G H7401231183ORPHA135812605606397
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CLRN1 CL E G H7401231183ORPHA135812605606397
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CLRN1 CL E G H7401231183ORPHA135812605606397
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CLRN1 CL E G H7401231183ORPHA135812605606397
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CLRN1 CL E G H7401231183ORPHA135812605606397
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CLRN1 CL E G H7401231183ORPHA135812605606397
HP:0000407HP:0008587Mild neurosensory hearing impairment1CLRN1 CL E G H7401231183ORPHA135812605606397
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CLRN1 CL E G H7401231183ORPHA135812605606397
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CLRN1 CL E G H7401231183ORPHA135812605606397
HP:0000407HP:0011476Profound sensorineural hearing impairment1CLRN1 CL E G H7401231183ORPHA135812605606397
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CLRN1 CL E G H7401231183ORPHA135812605606397
HP:0000407HP:0008625Severe sensorineural hearing impairment1CLRN1 CL E G H7401231183ORPHA135812605606397
HP:0000407HP:0000410Mixed hearing impairment1CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA135812605606397
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA135812605606397
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA135812605606397
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA135812605606397
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA135812605606397
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA135812605606397
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA135812605606397
HP:0000407HP:0008587Mild neurosensory hearing impairment1CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA135812605606397
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA135812605606397
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA135812605606397
HP:0000407HP:0011476Profound sensorineural hearing impairment1CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA135812605606397
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA135812605606397
HP:0000407HP:0008625Severe sensorineural hearing impairment1CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA135812605606397
HP:0000407HP:0000410Mixed hearing impairment1CLRN1 CL E G H7401276902Usher syndrome, type 3A276902C1568248OMIM135812605606397
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CLRN1 CL E G H7401276902Usher syndrome, type 3A276902C1568248OMIM135812605606397
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CLRN1 CL E G H7401276902Usher syndrome, type 3A276902C1568248OMIM135812605606397
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CLRN1 CL E G H7401276902Usher syndrome, type 3A276902C1568248OMIM135812605606397
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CLRN1 CL E G H7401276902Usher syndrome, type 3A276902C1568248OMIM135812605606397
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CLRN1 CL E G H7401276902Usher syndrome, type 3A276902C1568248OMIM135812605606397
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CLRN1 CL E G H7401276902Usher syndrome, type 3A276902C1568248OMIM135812605606397
HP:0000407HP:0008587Mild neurosensory hearing impairment1CLRN1 CL E G H7401276902Usher syndrome, type 3A276902C1568248OMIM135812605606397
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CLRN1 CL E G H7401276902Usher syndrome, type 3A276902C1568248OMIM135812605606397
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CLRN1 CL E G H7401276902Usher syndrome, type 3A276902C1568248OMIM135812605606397
HP:0000407HP:0011476Profound sensorineural hearing impairment1CLRN1 CL E G H7401276902Usher syndrome, type 3A276902C1568248OMIM135812605606397
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CLRN1 CL E G H7401276902Usher syndrome, type 3A276902C1568248OMIM135812605606397
HP:0000407HP:0008625Severe sensorineural hearing impairment1CLRN1 CL E G H7401276902Usher syndrome, type 3A276902C1568248OMIM135812605606397
HP:0000407HP:0000410Mixed hearing impairment1CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14562148123825
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14562148123825
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14562148123825
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14562148123825
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14562148123825
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14562148123825
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14562148123825
HP:0000407HP:0008587Mild neurosensory hearing impairment1CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14562148123825
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14562148123825
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14562148123825
HP:0000407HP:0011476Profound sensorineural hearing impairment1CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14562148123825
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14562148123825
HP:0000407HP:0008625Severe sensorineural hearing impairment1CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14562148123825
HP:0000407HP:0000410Mixed hearing impairment1CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111792151600724
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111792151600724
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111792151600724
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111792151600724
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111792151600724
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111792151600724
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111792151600724
HP:0000407HP:0008587Mild neurosensory hearing impairment1CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111792151600724
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111792151600724
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111792151600724
HP:0000407HP:0011476Profound sensorineural hearing impairment1CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111792151600724
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111792151600724
HP:0000407HP:0008625Severe sensorineural hearing impairment1CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111792151600724
HP:0000407HP:0000410Mixed hearing impairment1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0000407HP:0008527Congenital sensorineural hearing impairment1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0000407HP:0008587Mild neurosensory hearing impairment1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0000407HP:0008504Moderate sensorineural hearing impairment1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0000407HP:0011476Profound sensorineural hearing impairment1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0000407HP:0000408Progressive sensorineural hearing impairment1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0000407HP:0008625Severe sensorineural hearing impairment1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0000407HP:0000410Mixed hearing impairment1COCH CL E G H1690618094DEAFNESS, AUTOSOMAL RECESSIVE 110618094CN253427OMIM12422180603196
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1COCH CL E G H1690618094DEAFNESS, AUTOSOMAL RECESSIVE 110618094CN253427OMIM12422180603196
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1COCH CL E G H1690618094DEAFNESS, AUTOSOMAL RECESSIVE 110618094CN253427OMIM12422180603196
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1COCH CL E G H1690618094DEAFNESS, AUTOSOMAL RECESSIVE 110618094CN253427OMIM12422180603196
HP:0000407HP:0008527Congenital sensorineural hearing impairment1COCH CL E G H1690618094DEAFNESS, AUTOSOMAL RECESSIVE 110618094CN253427OMIM12422180603196
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1COCH CL E G H1690618094DEAFNESS, AUTOSOMAL RECESSIVE 110618094CN253427OMIM12422180603196
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1COCH CL E G H1690618094DEAFNESS, AUTOSOMAL RECESSIVE 110618094CN253427OMIM12422180603196
HP:0000407HP:0008587Mild neurosensory hearing impairment1COCH CL E G H1690618094DEAFNESS, AUTOSOMAL RECESSIVE 110618094CN253427OMIM12422180603196
HP:0000407HP:0008504Moderate sensorineural hearing impairment1COCH CL E G H1690618094DEAFNESS, AUTOSOMAL RECESSIVE 110618094CN253427OMIM12422180603196
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1COCH CL E G H1690618094DEAFNESS, AUTOSOMAL RECESSIVE 110618094CN253427OMIM12422180603196
HP:0000407HP:0011476Profound sensorineural hearing impairment1COCH CL E G H1690618094DEAFNESS, AUTOSOMAL RECESSIVE 110618094CN253427OMIM12422180603196
HP:0000407HP:0000408Progressive sensorineural hearing impairment1COCH CL E G H1690618094DEAFNESS, AUTOSOMAL RECESSIVE 110618094CN253427OMIM12422180603196
HP:0000407HP:0008625Severe sensorineural hearing impairment1COCH CL E G H1690618094DEAFNESS, AUTOSOMAL RECESSIVE 110618094CN253427OMIM12422180603196
HP:0000407HP:0000410Mixed hearing impairment1COL11A1 CL E G H1301560ORPHA122532186120280
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1COL11A1 CL E G H1301560ORPHA122532186120280
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1COL11A1 CL E G H1301560ORPHA122532186120280
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1COL11A1 CL E G H1301560ORPHA122532186120280
HP:0000407HP:0008527Congenital sensorineural hearing impairment1COL11A1 CL E G H1301560ORPHA122532186120280
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1COL11A1 CL E G H1301560ORPHA122532186120280
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1COL11A1 CL E G H1301560ORPHA122532186120280
HP:0000407HP:0008587Mild neurosensory hearing impairment1COL11A1 CL E G H1301560ORPHA122532186120280
HP:0000407HP:0008504Moderate sensorineural hearing impairment1COL11A1 CL E G H1301560ORPHA122532186120280
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1COL11A1 CL E G H1301560ORPHA122532186120280
HP:0000407HP:0011476Profound sensorineural hearing impairment1COL11A1 CL E G H1301560ORPHA122532186120280
HP:0000407HP:0000408Progressive sensorineural hearing impairment1COL11A1 CL E G H1301560ORPHA122532186120280
HP:0000407HP:0008625Severe sensorineural hearing impairment1COL11A1 CL E G H1301560ORPHA122532186120280
HP:0000407HP:0000410Mixed hearing impairment1COL11A1 CL E G H130190654ORPHA122532186120280
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1COL11A1 CL E G H130190654ORPHA122532186120280
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1COL11A1 CL E G H130190654ORPHA122532186120280
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1COL11A1 CL E G H130190654ORPHA122532186120280
HP:0000407HP:0008527Congenital sensorineural hearing impairment1COL11A1 CL E G H130190654ORPHA122532186120280
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1COL11A1 CL E G H130190654ORPHA122532186120280
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1COL11A1 CL E G H130190654ORPHA122532186120280
HP:0000407HP:0008587Mild neurosensory hearing impairment1COL11A1 CL E G H130190654ORPHA122532186120280
HP:0000407HP:0008504Moderate sensorineural hearing impairment1COL11A1 CL E G H130190654ORPHA122532186120280
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1COL11A1 CL E G H130190654ORPHA122532186120280
HP:0000407HP:0011476Profound sensorineural hearing impairment1COL11A1 CL E G H130190654ORPHA122532186120280
HP:0000407HP:0000408Progressive sensorineural hearing impairment1COL11A1 CL E G H130190654ORPHA122532186120280
HP:0000407HP:0008625Severe sensorineural hearing impairment1COL11A1 CL E G H130190654ORPHA122532186120280
HP:0000407HP:0000410Mixed hearing impairment1COL11A1 CL E G H1301250984ORPHA122532186120280
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1COL11A1 CL E G H1301250984ORPHA122532186120280
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1COL11A1 CL E G H1301250984ORPHA122532186120280
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1COL11A1 CL E G H1301250984ORPHA122532186120280
HP:0000407HP:0008527Congenital sensorineural hearing impairment1COL11A1 CL E G H1301250984ORPHA122532186120280
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1COL11A1 CL E G H1301250984ORPHA122532186120280
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1COL11A1 CL E G H1301250984ORPHA122532186120280
HP:0000407HP:0008587Mild neurosensory hearing impairment1COL11A1 CL E G H1301250984ORPHA122532186120280
HP:0000407HP:0008504Moderate sensorineural hearing impairment1COL11A1 CL E G H1301250984ORPHA122532186120280
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1COL11A1 CL E G H1301250984ORPHA122532186120280
HP:0000407HP:0011476Profound sensorineural hearing impairment1COL11A1 CL E G H1301250984ORPHA122532186120280
HP:0000407HP:0000408Progressive sensorineural hearing impairment1COL11A1 CL E G H1301250984ORPHA122532186120280
HP:0000407HP:0008625Severe sensorineural hearing impairment1COL11A1 CL E G H1301250984ORPHA122532186120280
HP:0000407HP:0000410Mixed hearing impairment1COL11A1 CL E G H1301440354ORPHA122532186120280
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1COL11A1 CL E G H1301440354ORPHA122532186120280
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1COL11A1 CL E G H1301440354ORPHA122532186120280
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1COL11A1 CL E G H1301440354ORPHA122532186120280
HP:0000407HP:0008527Congenital sensorineural hearing impairment1COL11A1 CL E G H1301440354ORPHA122532186120280
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1COL11A1 CL E G H1301440354ORPHA122532186120280
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1COL11A1 CL E G H1301440354ORPHA122532186120280
HP:0000407HP:0008587Mild neurosensory hearing impairment1COL11A1 CL E G H1301440354ORPHA122532186120280
HP:0000407HP:0008504Moderate sensorineural hearing impairment1COL11A1 CL E G H1301440354ORPHA122532186120280
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1COL11A1 CL E G H1301440354ORPHA122532186120280
HP:0000407HP:0011476Profound sensorineural hearing impairment1COL11A1 CL E G H1301440354ORPHA122532186120280
HP:0000407HP:0000408Progressive sensorineural hearing impairment1COL11A1 CL E G H1301440354ORPHA122532186120280
HP:0000407HP:0008625Severe sensorineural hearing impairment1COL11A1 CL E G H1301440354ORPHA122532186120280
HP:0000407HP:0000410Mixed hearing impairment1COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM122532186120280
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM122532186120280
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM122532186120280
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM122532186120280
HP:0000407HP:0008527Congenital sensorineural hearing impairment1COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM122532186120280
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM122532186120280
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM122532186120280
HP:0000407HP:0008587Mild neurosensory hearing impairment1COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM122532186120280
HP:0000407HP:0008504Moderate sensorineural hearing impairment1COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM122532186120280
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM122532186120280
HP:0000407HP:0011476Profound sensorineural hearing impairment1COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM122532186120280
HP:0000407HP:0000408Progressive sensorineural hearing impairment1COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM122532186120280
HP:0000407HP:0008625Severe sensorineural hearing impairment1COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM122532186120280
HP:0000407HP:0000410Mixed hearing impairment1COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM122532186120280
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM122532186120280
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM122532186120280
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM122532186120280
HP:0000407HP:0008527Congenital sensorineural hearing impairment1COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM122532186120280
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM122532186120280
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM122532186120280
HP:0000407HP:0008587Mild neurosensory hearing impairment1COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM122532186120280
HP:0000407HP:0008504Moderate sensorineural hearing impairment1COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM122532186120280
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM122532186120280
HP:0000407HP:0011476Profound sensorineural hearing impairment1COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM122532186120280
HP:0000407HP:0000408Progressive sensorineural hearing impairment1COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM122532186120280
HP:0000407HP:0008625Severe sensorineural hearing impairment1COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM122532186120280
HP:0000407HP:0000410Mixed hearing impairment1COL11A2 CL E G H13021427ORPHA117592187120290
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1COL11A2 CL E G H13021427ORPHA117592187120290
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1COL11A2 CL E G H13021427ORPHA117592187120290
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1COL11A2 CL E G H13021427ORPHA117592187120290
HP:0000407HP:0008527Congenital sensorineural hearing impairment1COL11A2 CL E G H13021427ORPHA117592187120290
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1COL11A2 CL E G H13021427ORPHA117592187120290
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1COL11A2 CL E G H13021427ORPHA117592187120290
HP:0000407HP:0008587Mild neurosensory hearing impairment1COL11A2 CL E G H13021427ORPHA117592187120290
HP:0000407HP:0008504Moderate sensorineural hearing impairment1COL11A2 CL E G H13021427ORPHA117592187120290
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1COL11A2 CL E G H13021427ORPHA117592187120290
HP:0000407HP:0011476Profound sensorineural hearing impairment1COL11A2 CL E G H13021427ORPHA117592187120290
HP:0000407HP:0000408Progressive sensorineural hearing impairment1COL11A2 CL E G H13021427ORPHA117592187120290
HP:0000407HP:0008625Severe sensorineural hearing impairment1COL11A2 CL E G H13021427ORPHA117592187120290
HP:0000407HP:0000410Mixed hearing impairment1COL11A2 CL E G H1302166100ORPHA117592187120290
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1COL11A2 CL E G H1302166100ORPHA117592187120290
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1COL11A2 CL E G H1302166100ORPHA117592187120290
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1COL11A2 CL E G H1302166100ORPHA117592187120290
HP:0000407HP:0008527Congenital sensorineural hearing impairment1COL11A2 CL E G H1302166100ORPHA117592187120290
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1COL11A2 CL E G H1302166100ORPHA117592187120290
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1COL11A2 CL E G H1302166100ORPHA117592187120290
HP:0000407HP:0008587Mild neurosensory hearing impairment1COL11A2 CL E G H1302166100ORPHA117592187120290
HP:0000407HP:0008504Moderate sensorineural hearing impairment1COL11A2 CL E G H1302166100ORPHA117592187120290
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1COL11A2 CL E G H1302166100ORPHA117592187120290
HP:0000407HP:0011476Profound sensorineural hearing impairment1COL11A2 CL E G H1302166100ORPHA117592187120290
HP:0000407HP:0000408Progressive sensorineural hearing impairment1COL11A2 CL E G H1302166100ORPHA117592187120290
HP:0000407HP:0008625Severe sensorineural hearing impairment1COL11A2 CL E G H1302166100ORPHA117592187120290
HP:0000407HP:0000410Mixed hearing impairment1COL11A2 CL E G H1302601868Deafness, autosomal dominant 13601868C1866095OMIM117592187120290
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1COL11A2 CL E G H1302601868Deafness, autosomal dominant 13601868C1866095OMIM117592187120290
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1COL11A2 CL E G H1302601868Deafness, autosomal dominant 13601868C1866095OMIM117592187120290
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1COL11A2 CL E G H1302601868Deafness, autosomal dominant 13601868C1866095OMIM117592187120290
HP:0000407HP:0008527Congenital sensorineural hearing impairment1COL11A2 CL E G H1302601868Deafness, autosomal dominant 13601868C1866095OMIM117592187120290
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1COL11A2 CL E G H1302601868Deafness, autosomal dominant 13601868C1866095OMIM117592187120290
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1COL11A2 CL E G H1302601868Deafness, autosomal dominant 13601868C1866095OMIM117592187120290
HP:0000407HP:0008587Mild neurosensory hearing impairment1COL11A2 CL E G H1302601868Deafness, autosomal dominant 13601868C1866095OMIM117592187120290
HP:0000407HP:0008504Moderate sensorineural hearing impairment1COL11A2 CL E G H1302601868Deafness, autosomal dominant 13601868C1866095OMIM117592187120290
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1COL11A2 CL E G H1302601868Deafness, autosomal dominant 13601868C1866095OMIM117592187120290
HP:0000407HP:0011476Profound sensorineural hearing impairment1COL11A2 CL E G H1302601868Deafness, autosomal dominant 13601868C1866095OMIM117592187120290
HP:0000407HP:0000408Progressive sensorineural hearing impairment1COL11A2 CL E G H1302601868Deafness, autosomal dominant 13601868C1866095OMIM117592187120290
HP:0000407HP:0008625Severe sensorineural hearing impairment1COL11A2 CL E G H1302601868Deafness, autosomal dominant 13601868C1866095OMIM117592187120290
HP:0000407HP:0000410Mixed hearing impairment1COL11A2 CL E G H1302609706Deafness, autosomal recessive 53609706C1864746OMIM117592187120290
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1COL11A2 CL E G H1302609706Deafness, autosomal recessive 53609706C1864746OMIM117592187120290
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1COL11A2 CL E G H1302609706Deafness, autosomal recessive 53609706C1864746OMIM117592187120290
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1COL11A2 CL E G H1302609706Deafness, autosomal recessive 53609706C1864746OMIM117592187120290
HP:0000407HP:0008527Congenital sensorineural hearing impairment1COL11A2 CL E G H1302609706Deafness, autosomal recessive 53609706C1864746OMIM117592187120290
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1COL11A2 CL E G H1302609706Deafness, autosomal recessive 53609706C1864746OMIM117592187120290
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1COL11A2 CL E G H1302609706Deafness, autosomal recessive 53609706C1864746OMIM117592187120290
HP:0000407HP:0008587Mild neurosensory hearing impairment1COL11A2 CL E G H1302609706Deafness, autosomal recessive 53609706C1864746OMIM117592187120290
HP:0000407HP:0008504Moderate sensorineural hearing impairment1COL11A2 CL E G H1302609706Deafness, autosomal recessive 53609706C1864746OMIM117592187120290
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1COL11A2 CL E G H1302609706Deafness, autosomal recessive 53609706C1864746OMIM117592187120290
HP:0000407HP:0011476Profound sensorineural hearing impairment1COL11A2 CL E G H1302609706Deafness, autosomal recessive 53609706C1864746OMIM117592187120290
HP:0000407HP:0000408Progressive sensorineural hearing impairment1COL11A2 CL E G H1302609706Deafness, autosomal recessive 53609706C1864746OMIM117592187120290
HP:0000407HP:0008625Severe sensorineural hearing impairment1COL11A2 CL E G H1302609706Deafness, autosomal recessive 53609706C1864746OMIM117592187120290
HP:0000407HP:0000410Mixed hearing impairment1COL11A2 CL E G H1302215150Otospondylomegaepiphyseal dysplasia215150C0432210OMIM117592187120290
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1COL11A2 CL E G H1302215150Otospondylomegaepiphyseal dysplasia215150C0432210OMIM117592187120290
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1COL11A2 CL E G H1302215150Otospondylomegaepiphyseal dysplasia215150C0432210OMIM117592187120290
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1COL11A2 CL E G H1302215150Otospondylomegaepiphyseal dysplasia215150C0432210OMIM117592187120290
HP:0000407HP:0008527Congenital sensorineural hearing impairment1COL11A2 CL E G H1302215150Otospondylomegaepiphyseal dysplasia215150C0432210OMIM117592187120290
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1COL11A2 CL E G H1302215150Otospondylomegaepiphyseal dysplasia215150C0432210OMIM117592187120290
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1COL11A2 CL E G H1302215150Otospondylomegaepiphyseal dysplasia215150C0432210OMIM117592187120290
HP:0000407HP:0008587Mild neurosensory hearing impairment1COL11A2 CL E G H1302215150Otospondylomegaepiphyseal dysplasia215150C0432210OMIM117592187120290
HP:0000407HP:0008504Moderate sensorineural hearing impairment1COL11A2 CL E G H1302215150Otospondylomegaepiphyseal dysplasia215150C0432210OMIM117592187120290
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1COL11A2 CL E G H1302215150Otospondylomegaepiphyseal dysplasia215150C0432210OMIM117592187120290
HP:0000407HP:0011476Profound sensorineural hearing impairment1COL11A2 CL E G H1302215150Otospondylomegaepiphyseal dysplasia215150C0432210OMIM117592187120290
HP:0000407HP:0000408Progressive sensorineural hearing impairment1COL11A2 CL E G H1302215150Otospondylomegaepiphyseal dysplasia215150C0432210OMIM117592187120290
HP:0000407HP:0008625Severe sensorineural hearing impairment1COL11A2 CL E G H1302215150Otospondylomegaepiphyseal dysplasia215150C0432210OMIM117592187120290
HP:0000407HP:0000410Mixed hearing impairment1COL11A2 CL E G H1302184840Stickler syndrome, type 3184840C1861481OMIM117592187120290
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1COL11A2 CL E G H1302184840Stickler syndrome, type 3184840C1861481OMIM117592187120290
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1COL11A2 CL E G H1302184840Stickler syndrome, type 3184840C1861481OMIM117592187120290
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1COL11A2 CL E G H1302184840Stickler syndrome, type 3184840C1861481OMIM117592187120290
HP:0000407HP:0008527Congenital sensorineural hearing impairment1COL11A2 CL E G H1302184840Stickler syndrome, type 3184840C1861481OMIM117592187120290
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1COL11A2 CL E G H1302184840Stickler syndrome, type 3184840C1861481OMIM117592187120290
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1COL11A2 CL E G H1302184840Stickler syndrome, type 3184840C1861481OMIM117592187120290
HP:0000407HP:0008587Mild neurosensory hearing impairment1COL11A2 CL E G H1302184840Stickler syndrome, type 3184840C1861481OMIM117592187120290
HP:0000407HP:0008504Moderate sensorineural hearing impairment1COL11A2 CL E G H1302184840Stickler syndrome, type 3184840C1861481OMIM117592187120290
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1COL11A2 CL E G H1302184840Stickler syndrome, type 3184840C1861481OMIM117592187120290
HP:0000407HP:0011476Profound sensorineural hearing impairment1COL11A2 CL E G H1302184840Stickler syndrome, type 3184840C1861481OMIM117592187120290
HP:0000407HP:0000408Progressive sensorineural hearing impairment1COL11A2 CL E G H1302184840Stickler syndrome, type 3184840C1861481OMIM117592187120290
HP:0000407HP:0008625Severe sensorineural hearing impairment1COL11A2 CL E G H1302184840Stickler syndrome, type 3184840C1861481OMIM117592187120290
HP:0000407HP:0000410Mixed hearing impairment1COL25A1 CL E G H84570233D ercole syndromeORPHA17818603610004
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1COL25A1 CL E G H84570233D ercole syndromeORPHA17818603610004
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1COL25A1 CL E G H84570233D ercole syndromeORPHA17818603610004
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1COL25A1 CL E G H84570233D ercole syndromeORPHA17818603610004
HP:0000407HP:0008527Congenital sensorineural hearing impairment1COL25A1 CL E G H84570233D ercole syndromeORPHA17818603610004
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1COL25A1 CL E G H84570233D ercole syndromeORPHA17818603610004
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1COL25A1 CL E G H84570233D ercole syndromeORPHA17818603610004
HP:0000407HP:0008587Mild neurosensory hearing impairment1COL25A1 CL E G H84570233D ercole syndromeORPHA17818603610004
HP:0000407HP:0008504Moderate sensorineural hearing impairment1COL25A1 CL E G H84570233D ercole syndromeORPHA17818603610004
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1COL25A1 CL E G H84570233D ercole syndromeORPHA17818603610004
HP:0000407HP:0011476Profound sensorineural hearing impairment1COL25A1 CL E G H84570233D ercole syndromeORPHA17818603610004
HP:0000407HP:0000408Progressive sensorineural hearing impairment1COL25A1 CL E G H84570233D ercole syndromeORPHA17818603610004
HP:0000407HP:0008625Severe sensorineural hearing impairment1COL25A1 CL E G H84570233D ercole syndromeORPHA17818603610004
HP:0000407HP:0000410Mixed hearing impairment1COL2A1 CL E G H128090653ORPHA123802200120140
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1COL2A1 CL E G H128090653ORPHA123802200120140
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1COL2A1 CL E G H128090653ORPHA123802200120140
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1COL2A1 CL E G H128090653ORPHA123802200120140
HP:0000407HP:0008527Congenital sensorineural hearing impairment1COL2A1 CL E G H128090653ORPHA123802200120140
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1COL2A1 CL E G H128090653ORPHA123802200120140
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1COL2A1 CL E G H128090653ORPHA123802200120140
HP:0000407HP:0008587Mild neurosensory hearing impairment1COL2A1 CL E G H128090653ORPHA123802200120140
HP:0000407HP:0008504Moderate sensorineural hearing impairment1COL2A1 CL E G H128090653ORPHA123802200120140
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1COL2A1 CL E G H128090653ORPHA123802200120140
HP:0000407HP:0011476Profound sensorineural hearing impairment1COL2A1 CL E G H128090653ORPHA123802200120140
HP:0000407HP:0000408Progressive sensorineural hearing impairment1COL2A1 CL E G H128090653ORPHA123802200120140
HP:0000407HP:0008625Severe sensorineural hearing impairment1COL2A1 CL E G H128090653ORPHA123802200120140
HP:0000407HP:0000410Mixed hearing impairment1COL2A1 CL E G H1280271700Spondyloperipheral dysplasia271700C0796173OMIM123802200120140
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1COL2A1 CL E G H1280271700Spondyloperipheral dysplasia271700C0796173OMIM123802200120140
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1COL2A1 CL E G H1280271700Spondyloperipheral dysplasia271700C0796173OMIM123802200120140
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1COL2A1 CL E G H1280271700Spondyloperipheral dysplasia271700C0796173OMIM123802200120140
HP:0000407HP:0008527Congenital sensorineural hearing impairment1COL2A1 CL E G H1280271700Spondyloperipheral dysplasia271700C0796173OMIM123802200120140
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1COL2A1 CL E G H1280271700Spondyloperipheral dysplasia271700C0796173OMIM123802200120140
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1COL2A1 CL E G H1280271700Spondyloperipheral dysplasia271700C0796173OMIM123802200120140
HP:0000407HP:0008587Mild neurosensory hearing impairment1COL2A1 CL E G H1280271700Spondyloperipheral dysplasia271700C0796173OMIM123802200120140
HP:0000407HP:0008504Moderate sensorineural hearing impairment1COL2A1 CL E G H1280271700Spondyloperipheral dysplasia271700C0796173OMIM123802200120140
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1COL2A1 CL E G H1280271700Spondyloperipheral dysplasia271700C0796173OMIM123802200120140
HP:0000407HP:0011476Profound sensorineural hearing impairment1COL2A1 CL E G H1280271700Spondyloperipheral dysplasia271700C0796173OMIM123802200120140
HP:0000407HP:0000408Progressive sensorineural hearing impairment1COL2A1 CL E G H1280271700Spondyloperipheral dysplasia271700C0796173OMIM123802200120140
HP:0000407HP:0008625Severe sensorineural hearing impairment1COL2A1 CL E G H1280271700Spondyloperipheral dysplasia271700C0796173OMIM123802200120140
HP:0000407HP:0000410Mixed hearing impairment1COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM123802200120140
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM123802200120140
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM123802200120140
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM123802200120140
HP:0000407HP:0008527Congenital sensorineural hearing impairment1COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM123802200120140
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM123802200120140
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM123802200120140
HP:0000407HP:0008587Mild neurosensory hearing impairment1COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM123802200120140
HP:0000407HP:0008504Moderate sensorineural hearing impairment1COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM123802200120140
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM123802200120140
HP:0000407HP:0011476Profound sensorineural hearing impairment1COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM123802200120140
HP:0000407HP:0000408Progressive sensorineural hearing impairment1COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM123802200120140
HP:0000407HP:0008625Severe sensorineural hearing impairment1COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM123802200120140
HP:0000407HP:0000410Mixed hearing impairment1COL4A3 CL E G H1285104200Alport syndrome, autosomal dominant104200C1567743OMIM120402204120070
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1COL4A3 CL E G H1285104200Alport syndrome, autosomal dominant104200C1567743OMIM120402204120070
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1COL4A3 CL E G H1285104200Alport syndrome, autosomal dominant104200C1567743OMIM120402204120070
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1COL4A3 CL E G H1285104200Alport syndrome, autosomal dominant104200C1567743OMIM120402204120070
HP:0000407HP:0008527Congenital sensorineural hearing impairment1COL4A3 CL E G H1285104200Alport syndrome, autosomal dominant104200C1567743OMIM120402204120070
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1COL4A3 CL E G H1285104200Alport syndrome, autosomal dominant104200C1567743OMIM120402204120070
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1COL4A3 CL E G H1285104200Alport syndrome, autosomal dominant104200C1567743OMIM120402204120070
HP:0000407HP:0008587Mild neurosensory hearing impairment1COL4A3 CL E G H1285104200Alport syndrome, autosomal dominant104200C1567743OMIM120402204120070
HP:0000407HP:0008504Moderate sensorineural hearing impairment1COL4A3 CL E G H1285104200Alport syndrome, autosomal dominant104200C1567743OMIM120402204120070
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1COL4A3 CL E G H1285104200Alport syndrome, autosomal dominant104200C1567743OMIM120402204120070
HP:0000407HP:0011476Profound sensorineural hearing impairment1COL4A3 CL E G H1285104200Alport syndrome, autosomal dominant104200C1567743OMIM120402204120070
HP:0000407HP:0000408Progressive sensorineural hearing impairment1COL4A3 CL E G H1285104200Alport syndrome, autosomal dominant104200C1567743OMIM120402204120070
HP:0000407HP:0008625Severe sensorineural hearing impairment1COL4A3 CL E G H1285104200Alport syndrome, autosomal dominant104200C1567743OMIM120402204120070
HP:0000407HP:0000410Mixed hearing impairment1COL4A5 CL E G H1287301050Alport syndrome, X-linked recessive301050C1567742OMIM121612207303630
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1COL4A5 CL E G H1287301050Alport syndrome, X-linked recessive301050C1567742OMIM121612207303630
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1COL4A5 CL E G H1287301050Alport syndrome, X-linked recessive301050C1567742OMIM121612207303630
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1COL4A5 CL E G H1287301050Alport syndrome, X-linked recessive301050C1567742OMIM121612207303630
HP:0000407HP:0008527Congenital sensorineural hearing impairment1COL4A5 CL E G H1287301050Alport syndrome, X-linked recessive301050C1567742OMIM121612207303630
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1COL4A5 CL E G H1287301050Alport syndrome, X-linked recessive301050C1567742OMIM121612207303630
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1COL4A5 CL E G H1287301050Alport syndrome, X-linked recessive301050C1567742OMIM121612207303630
HP:0000407HP:0008587Mild neurosensory hearing impairment1COL4A5 CL E G H1287301050Alport syndrome, X-linked recessive301050C1567742OMIM121612207303630
HP:0000407HP:0008504Moderate sensorineural hearing impairment1COL4A5 CL E G H1287301050Alport syndrome, X-linked recessive301050C1567742OMIM121612207303630
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1COL4A5 CL E G H1287301050Alport syndrome, X-linked recessive301050C1567742OMIM121612207303630
HP:0000407HP:0011476Profound sensorineural hearing impairment1COL4A5 CL E G H1287301050Alport syndrome, X-linked recessive301050C1567742OMIM121612207303630
HP:0000407HP:0000408Progressive sensorineural hearing impairment1COL4A5 CL E G H1287301050Alport syndrome, X-linked recessive301050C1567742OMIM121612207303630
HP:0000407HP:0008625Severe sensorineural hearing impairment1COL4A5 CL E G H1287301050Alport syndrome, X-linked recessive301050C1567742OMIM121612207303630
HP:0000407HP:0000410Mixed hearing impairment1COL9A1 CL E G H1297250984ORPHA111302217120210
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1COL9A1 CL E G H1297250984ORPHA111302217120210
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1COL9A1 CL E G H1297250984ORPHA111302217120210
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1COL9A1 CL E G H1297250984ORPHA111302217120210
HP:0000407HP:0008527Congenital sensorineural hearing impairment1COL9A1 CL E G H1297250984ORPHA111302217120210
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1COL9A1 CL E G H1297250984ORPHA111302217120210
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1COL9A1 CL E G H1297250984ORPHA111302217120210
HP:0000407HP:0008587Mild neurosensory hearing impairment1COL9A1 CL E G H1297250984ORPHA111302217120210
HP:0000407HP:0008504Moderate sensorineural hearing impairment1COL9A1 CL E G H1297250984ORPHA111302217120210
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1COL9A1 CL E G H1297250984ORPHA111302217120210
HP:0000407HP:0011476Profound sensorineural hearing impairment1COL9A1 CL E G H1297250984ORPHA111302217120210
HP:0000407HP:0000408Progressive sensorineural hearing impairment1COL9A1 CL E G H1297250984ORPHA111302217120210
HP:0000407HP:0008625Severe sensorineural hearing impairment1COL9A1 CL E G H1297250984ORPHA111302217120210
HP:0000407HP:0000410Mixed hearing impairment1COL9A1 CL E G H1297614134Stickler syndrome, type 4614134C3279941OMIM111302217120210
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1COL9A1 CL E G H1297614134Stickler syndrome, type 4614134C3279941OMIM111302217120210
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1COL9A1 CL E G H1297614134Stickler syndrome, type 4614134C3279941OMIM111302217120210
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1COL9A1 CL E G H1297614134Stickler syndrome, type 4614134C3279941OMIM111302217120210
HP:0000407HP:0008527Congenital sensorineural hearing impairment1COL9A1 CL E G H1297614134Stickler syndrome, type 4614134C3279941OMIM111302217120210
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1COL9A1 CL E G H1297614134Stickler syndrome, type 4614134C3279941OMIM111302217120210
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1COL9A1 CL E G H1297614134Stickler syndrome, type 4614134C3279941OMIM111302217120210
HP:0000407HP:0008587Mild neurosensory hearing impairment1COL9A1 CL E G H1297614134Stickler syndrome, type 4614134C3279941OMIM111302217120210
HP:0000407HP:0008504Moderate sensorineural hearing impairment1COL9A1 CL E G H1297614134Stickler syndrome, type 4614134C3279941OMIM111302217120210
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1COL9A1 CL E G H1297614134Stickler syndrome, type 4614134C3279941OMIM111302217120210
HP:0000407HP:0011476Profound sensorineural hearing impairment1COL9A1 CL E G H1297614134Stickler syndrome, type 4614134C3279941OMIM111302217120210
HP:0000407HP:0000408Progressive sensorineural hearing impairment1COL9A1 CL E G H1297614134Stickler syndrome, type 4614134C3279941OMIM111302217120210
HP:0000407HP:0008625Severe sensorineural hearing impairment1COL9A1 CL E G H1297614134Stickler syndrome, type 4614134C3279941OMIM111302217120210
HP:0000407HP:0000410Mixed hearing impairment1COL9A2 CL E G H1298250984ORPHA18322218120260
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1COL9A2 CL E G H1298250984ORPHA18322218120260
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1COL9A2 CL E G H1298250984ORPHA18322218120260
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1COL9A2 CL E G H1298250984ORPHA18322218120260
HP:0000407HP:0008527Congenital sensorineural hearing impairment1COL9A2 CL E G H1298250984ORPHA18322218120260
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1COL9A2 CL E G H1298250984ORPHA18322218120260
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1COL9A2 CL E G H1298250984ORPHA18322218120260
HP:0000407HP:0008587Mild neurosensory hearing impairment1COL9A2 CL E G H1298250984ORPHA18322218120260
HP:0000407HP:0008504Moderate sensorineural hearing impairment1COL9A2 CL E G H1298250984ORPHA18322218120260
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1COL9A2 CL E G H1298250984ORPHA18322218120260
HP:0000407HP:0011476Profound sensorineural hearing impairment1COL9A2 CL E G H1298250984ORPHA18322218120260
HP:0000407HP:0000408Progressive sensorineural hearing impairment1COL9A2 CL E G H1298250984ORPHA18322218120260
HP:0000407HP:0008625Severe sensorineural hearing impairment1COL9A2 CL E G H1298250984ORPHA18322218120260
HP:0000407HP:0000410Mixed hearing impairment1COL9A2 CL E G H1298614284Stickler syndrome, type 5614284C3280342OMIM18322218120260
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1COL9A2 CL E G H1298614284Stickler syndrome, type 5614284C3280342OMIM18322218120260
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1COL9A2 CL E G H1298614284Stickler syndrome, type 5614284C3280342OMIM18322218120260
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1COL9A2 CL E G H1298614284Stickler syndrome, type 5614284C3280342OMIM18322218120260
HP:0000407HP:0008527Congenital sensorineural hearing impairment1COL9A2 CL E G H1298614284Stickler syndrome, type 5614284C3280342OMIM18322218120260
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1COL9A2 CL E G H1298614284Stickler syndrome, type 5614284C3280342OMIM18322218120260
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1COL9A2 CL E G H1298614284Stickler syndrome, type 5614284C3280342OMIM18322218120260
HP:0000407HP:0008587Mild neurosensory hearing impairment1COL9A2 CL E G H1298614284Stickler syndrome, type 5614284C3280342OMIM18322218120260
HP:0000407HP:0008504Moderate sensorineural hearing impairment1COL9A2 CL E G H1298614284Stickler syndrome, type 5614284C3280342OMIM18322218120260
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1COL9A2 CL E G H1298614284Stickler syndrome, type 5614284C3280342OMIM18322218120260
HP:0000407HP:0011476Profound sensorineural hearing impairment1COL9A2 CL E G H1298614284Stickler syndrome, type 5614284C3280342OMIM18322218120260
HP:0000407HP:0000408Progressive sensorineural hearing impairment1COL9A2 CL E G H1298614284Stickler syndrome, type 5614284C3280342OMIM18322218120260
HP:0000407HP:0008625Severe sensorineural hearing impairment1COL9A2 CL E G H1298614284Stickler syndrome, type 5614284C3280342OMIM18322218120260
HP:0000407HP:0000410Mixed hearing impairment1COL9A3 CL E G H1299250984ORPHA112412219120270
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1COL9A3 CL E G H1299250984ORPHA112412219120270
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1COL9A3 CL E G H1299250984ORPHA112412219120270
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1COL9A3 CL E G H1299250984ORPHA112412219120270
HP:0000407HP:0008527Congenital sensorineural hearing impairment1COL9A3 CL E G H1299250984ORPHA112412219120270
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1COL9A3 CL E G H1299250984ORPHA112412219120270
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1COL9A3 CL E G H1299250984ORPHA112412219120270
HP:0000407HP:0008587Mild neurosensory hearing impairment1COL9A3 CL E G H1299250984ORPHA112412219120270
HP:0000407HP:0008504Moderate sensorineural hearing impairment1COL9A3 CL E G H1299250984ORPHA112412219120270
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1COL9A3 CL E G H1299250984ORPHA112412219120270
HP:0000407HP:0011476Profound sensorineural hearing impairment1COL9A3 CL E G H1299250984ORPHA112412219120270
HP:0000407HP:0000408Progressive sensorineural hearing impairment1COL9A3 CL E G H1299250984ORPHA112412219120270
HP:0000407HP:0008625Severe sensorineural hearing impairment1COL9A3 CL E G H1299250984ORPHA112412219120270
HP:0000407HP:0000410Mixed hearing impairment1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0000407HP:0008527Congenital sensorineural hearing impairment1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0000407HP:0008587Mild neurosensory hearing impairment1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0000407HP:0008504Moderate sensorineural hearing impairment1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0000407HP:0011476Profound sensorineural hearing impairment1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0000407HP:0000408Progressive sensorineural hearing impairment1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0000407HP:0008625Severe sensorineural hearing impairment1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0000407HP:0000410Mixed hearing impairment1COQ6 CL E G H51004614650Coenzyme Q10 deficiency, primary, 6614650C3553349OMIM127320233614647
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1COQ6 CL E G H51004614650Coenzyme Q10 deficiency, primary, 6614650C3553349OMIM127320233614647
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1COQ6 CL E G H51004614650Coenzyme Q10 deficiency, primary, 6614650C3553349OMIM127320233614647
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1COQ6 CL E G H51004614650Coenzyme Q10 deficiency, primary, 6614650C3553349OMIM127320233614647
HP:0000407HP:0008527Congenital sensorineural hearing impairment1COQ6 CL E G H51004614650Coenzyme Q10 deficiency, primary, 6614650C3553349OMIM127320233614647
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1COQ6 CL E G H51004614650Coenzyme Q10 deficiency, primary, 6614650C3553349OMIM127320233614647
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1COQ6 CL E G H51004614650Coenzyme Q10 deficiency, primary, 6614650C3553349OMIM127320233614647
HP:0000407HP:0008587Mild neurosensory hearing impairment1COQ6 CL E G H51004614650Coenzyme Q10 deficiency, primary, 6614650C3553349OMIM127320233614647
HP:0000407HP:0008504Moderate sensorineural hearing impairment1COQ6 CL E G H51004614650Coenzyme Q10 deficiency, primary, 6614650C3553349OMIM127320233614647
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1COQ6 CL E G H51004614650Coenzyme Q10 deficiency, primary, 6614650C3553349OMIM127320233614647
HP:0000407HP:0011476Profound sensorineural hearing impairment1COQ6 CL E G H51004614650Coenzyme Q10 deficiency, primary, 6614650C3553349OMIM127320233614647
HP:0000407HP:0000408Progressive sensorineural hearing impairment1COQ6 CL E G H51004614650Coenzyme Q10 deficiency, primary, 6614650C3553349OMIM127320233614647
HP:0000407HP:0008625Severe sensorineural hearing impairment1COQ6 CL E G H51004614650Coenzyme Q10 deficiency, primary, 6614650C3553349OMIM127320233614647
HP:0000407HP:0000410Mixed hearing impairment1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0000407HP:0008527Congenital sensorineural hearing impairment1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0000407HP:0008587Mild neurosensory hearing impairment1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0000407HP:0008504Moderate sensorineural hearing impairment1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0000407HP:0011476Profound sensorineural hearing impairment1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0000407HP:0000408Progressive sensorineural hearing impairment1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0000407HP:0008625Severe sensorineural hearing impairment1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0000407HP:0000410Mixed hearing impairment1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0000407HP:0008527Congenital sensorineural hearing impairment1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0000407HP:0008587Mild neurosensory hearing impairment1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0000407HP:0008504Moderate sensorineural hearing impairment1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0000407HP:0011476Profound sensorineural hearing impairment1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0000407HP:0000408Progressive sensorineural hearing impairment1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0000407HP:0008625Severe sensorineural hearing impairment1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0000407HP:0000410Mixed hearing impairment1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0000407HP:0008527Congenital sensorineural hearing impairment1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0000407HP:0008587Mild neurosensory hearing impairment1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0000407HP:0008504Moderate sensorineural hearing impairment1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0000407HP:0011476Profound sensorineural hearing impairment1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0000407HP:0000408Progressive sensorineural hearing impairment1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0000407HP:0008625Severe sensorineural hearing impairment1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0000407HP:0000410Mixed hearing impairment1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0000407HP:0008527Congenital sensorineural hearing impairment1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0000407HP:0008587Mild neurosensory hearing impairment1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0000407HP:0008504Moderate sensorineural hearing impairment1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0000407HP:0011476Profound sensorineural hearing impairment1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0000407HP:0000408Progressive sensorineural hearing impairment1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0000407HP:0008625Severe sensorineural hearing impairment1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0000407HP:0000410Mixed hearing impairment1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0000407HP:0008527Congenital sensorineural hearing impairment1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0000407HP:0008587Mild neurosensory hearing impairment1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0000407HP:0008504Moderate sensorineural hearing impairment1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0000407HP:0011476Profound sensorineural hearing impairment1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0000407HP:0000408Progressive sensorineural hearing impairment1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0000407HP:0008625Severe sensorineural hearing impairment1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0000407HP:0000410Mixed hearing impairment1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0000407HP:0008527Congenital sensorineural hearing impairment1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0000407HP:0008587Mild neurosensory hearing impairment1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0000407HP:0008504Moderate sensorineural hearing impairment1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0000407HP:0011476Profound sensorineural hearing impairment1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0000407HP:0000408Progressive sensorineural hearing impairment1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0000407HP:0008625Severe sensorineural hearing impairment1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0000407HP:0000410Mixed hearing impairment1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0000407HP:0008527Congenital sensorineural hearing impairment1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0000407HP:0008587Mild neurosensory hearing impairment1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0000407HP:0008504Moderate sensorineural hearing impairment1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0000407HP:0011476Profound sensorineural hearing impairment1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0000407HP:0000408Progressive sensorineural hearing impairment1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0000407HP:0008625Severe sensorineural hearing impairment1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0000407HP:0000410Mixed hearing impairment1CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA116332343604210
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA116332343604210
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA116332343604210
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA116332343604210
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA116332343604210
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA116332343604210
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA116332343604210
HP:0000407HP:0008587Mild neurosensory hearing impairment1CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA116332343604210
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA116332343604210
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA116332343604210
HP:0000407HP:0011476Profound sensorineural hearing impairment1CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA116332343604210
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA116332343604210
HP:0000407HP:0008625Severe sensorineural hearing impairment1CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA116332343604210
HP:0000407HP:0000410Mixed hearing impairment1CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14992383602225
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14992383602225
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14992383602225
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14992383602225
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14992383602225
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14992383602225
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14992383602225
HP:0000407HP:0008587Mild neurosensory hearing impairment1CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14992383602225
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14992383602225
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14992383602225
HP:0000407HP:0011476Profound sensorineural hearing impairment1CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14992383602225
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14992383602225
HP:0000407HP:0008625Severe sensorineural hearing impairment1CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14992383602225
HP:0000407HP:0000410Mixed hearing impairment1CRYM CL E G H1428616357Deafness, autosomal dominant 40616357C4084708OMIM11152418123740
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CRYM CL E G H1428616357Deafness, autosomal dominant 40616357C4084708OMIM11152418123740
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CRYM CL E G H1428616357Deafness, autosomal dominant 40616357C4084708OMIM11152418123740
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CRYM CL E G H1428616357Deafness, autosomal dominant 40616357C4084708OMIM11152418123740
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CRYM CL E G H1428616357Deafness, autosomal dominant 40616357C4084708OMIM11152418123740
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CRYM CL E G H1428616357Deafness, autosomal dominant 40616357C4084708OMIM11152418123740
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CRYM CL E G H1428616357Deafness, autosomal dominant 40616357C4084708OMIM11152418123740
HP:0000407HP:0008587Mild neurosensory hearing impairment1CRYM CL E G H1428616357Deafness, autosomal dominant 40616357C4084708OMIM11152418123740
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CRYM CL E G H1428616357Deafness, autosomal dominant 40616357C4084708OMIM11152418123740
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CRYM CL E G H1428616357Deafness, autosomal dominant 40616357C4084708OMIM11152418123740
HP:0000407HP:0011476Profound sensorineural hearing impairment1CRYM CL E G H1428616357Deafness, autosomal dominant 40616357C4084708OMIM11152418123740
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CRYM CL E G H1428616357Deafness, autosomal dominant 40616357C4084708OMIM11152418123740
HP:0000407HP:0008625Severe sensorineural hearing impairment1CRYM CL E G H1428616357Deafness, autosomal dominant 40616357C4084708OMIM11152418123740
HP:0000407HP:0000410Mixed hearing impairment1DAB1 CL E G H1600363710ORPHA11072661603448
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1DAB1 CL E G H1600363710ORPHA11072661603448
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1DAB1 CL E G H1600363710ORPHA11072661603448
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1DAB1 CL E G H1600363710ORPHA11072661603448
HP:0000407HP:0008527Congenital sensorineural hearing impairment1DAB1 CL E G H1600363710ORPHA11072661603448
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1DAB1 CL E G H1600363710ORPHA11072661603448
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1DAB1 CL E G H1600363710ORPHA11072661603448
HP:0000407HP:0008587Mild neurosensory hearing impairment1DAB1 CL E G H1600363710ORPHA11072661603448
HP:0000407HP:0008504Moderate sensorineural hearing impairment1DAB1 CL E G H1600363710ORPHA11072661603448
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1DAB1 CL E G H1600363710ORPHA11072661603448
HP:0000407HP:0011476Profound sensorineural hearing impairment1DAB1 CL E G H1600363710ORPHA11072661603448
HP:0000407HP:0000408Progressive sensorineural hearing impairment1DAB1 CL E G H1600363710ORPHA11072661603448
HP:0000407HP:0008625Severe sensorineural hearing impairment1DAB1 CL E G H1600363710ORPHA11072661603448
HP:0000407HP:0000410Mixed hearing impairment1DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0000407HP:0008527Congenital sensorineural hearing impairment1DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0000407HP:0008587Mild neurosensory hearing impairment1DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0000407HP:0008504Moderate sensorineural hearing impairment1DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0000407HP:0011476Profound sensorineural hearing impairment1DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0000407HP:0000408Progressive sensorineural hearing impairment1DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0000407HP:0008625Severe sensorineural hearing impairment1DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0000407HP:0000410Mixed hearing impairment1DCDC2 CL E G H51473610212Deafness, autosomal recessive 66610212C1857750OMIM126118141605755
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1DCDC2 CL E G H51473610212Deafness, autosomal recessive 66610212C1857750OMIM126118141605755
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1DCDC2 CL E G H51473610212Deafness, autosomal recessive 66610212C1857750OMIM126118141605755
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1DCDC2 CL E G H51473610212Deafness, autosomal recessive 66610212C1857750OMIM126118141605755
HP:0000407HP:0008527Congenital sensorineural hearing impairment1DCDC2 CL E G H51473610212Deafness, autosomal recessive 66610212C1857750OMIM126118141605755
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1DCDC2 CL E G H51473610212Deafness, autosomal recessive 66610212C1857750OMIM126118141605755
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1DCDC2 CL E G H51473610212Deafness, autosomal recessive 66610212C1857750OMIM126118141605755
HP:0000407HP:0008587Mild neurosensory hearing impairment1DCDC2 CL E G H51473610212Deafness, autosomal recessive 66610212C1857750OMIM126118141605755
HP:0000407HP:0008504Moderate sensorineural hearing impairment1DCDC2 CL E G H51473610212Deafness, autosomal recessive 66610212C1857750OMIM126118141605755
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1DCDC2 CL E G H51473610212Deafness, autosomal recessive 66610212C1857750OMIM126118141605755
HP:0000407HP:0011476Profound sensorineural hearing impairment1DCDC2 CL E G H51473610212Deafness, autosomal recessive 66610212C1857750OMIM126118141605755
HP:0000407HP:0000408Progressive sensorineural hearing impairment1DCDC2 CL E G H51473610212Deafness, autosomal recessive 66610212C1857750OMIM126118141605755
HP:0000407HP:0008625Severe sensorineural hearing impairment1DCDC2 CL E G H51473610212Deafness, autosomal recessive 66610212C1857750OMIM126118141605755
HP:0000407HP:0000410Mixed hearing impairment1DCHS1 CL E G H8642601390601390601390OMIM1120513681603057
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1DCHS1 CL E G H8642601390601390601390OMIM1120513681603057
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1DCHS1 CL E G H8642601390601390601390OMIM1120513681603057
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1DCHS1 CL E G H8642601390601390601390OMIM1120513681603057
HP:0000407HP:0008527Congenital sensorineural hearing impairment1DCHS1 CL E G H8642601390601390601390OMIM1120513681603057
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1DCHS1 CL E G H8642601390601390601390OMIM1120513681603057
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1DCHS1 CL E G H8642601390601390601390OMIM1120513681603057
HP:0000407HP:0008587Mild neurosensory hearing impairment1DCHS1 CL E G H8642601390601390601390OMIM1120513681603057
HP:0000407HP:0008504Moderate sensorineural hearing impairment1DCHS1 CL E G H8642601390601390601390OMIM1120513681603057
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1DCHS1 CL E G H8642601390601390601390OMIM1120513681603057
HP:0000407HP:0011476Profound sensorineural hearing impairment1DCHS1 CL E G H8642601390601390601390OMIM1120513681603057
HP:0000407HP:0000408Progressive sensorineural hearing impairment1DCHS1 CL E G H8642601390601390601390OMIM1120513681603057
HP:0000407HP:0008625Severe sensorineural hearing impairment1DCHS1 CL E G H8642601390601390601390OMIM1120513681603057
HP:0000407HP:0000410Mixed hearing impairment1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11422718600811
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11422718600811
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11422718600811
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11422718600811
HP:0000407HP:0008527Congenital sensorineural hearing impairment1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11422718600811
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11422718600811
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11422718600811
HP:0000407HP:0008587Mild neurosensory hearing impairment1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11422718600811
HP:0000407HP:0008504Moderate sensorineural hearing impairment1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11422718600811
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11422718600811
HP:0000407HP:0011476Profound sensorineural hearing impairment1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11422718600811
HP:0000407HP:0000408Progressive sensorineural hearing impairment1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11422718600811
HP:0000407HP:0008625Severe sensorineural hearing impairment1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11422718600811
HP:0000407HP:0000410Mixed hearing impairment1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM12392858601465
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM12392858601465
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM12392858601465
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM12392858601465
HP:0000407HP:0008527Congenital sensorineural hearing impairment1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM12392858601465
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM12392858601465
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM12392858601465
HP:0000407HP:0008587Mild neurosensory hearing impairment1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM12392858601465
HP:0000407HP:0008504Moderate sensorineural hearing impairment1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM12392858601465
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM12392858601465
HP:0000407HP:0011476Profound sensorineural hearing impairment1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM12392858601465
HP:0000407HP:0000408Progressive sensorineural hearing impairment1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM12392858601465
HP:0000407HP:0008625Severe sensorineural hearing impairment1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM12392858601465
HP:0000407HP:0000410Mixed hearing impairment1DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143420603608172
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143420603608172
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143420603608172
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143420603608172
HP:0000407HP:0008527Congenital sensorineural hearing impairment1DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143420603608172
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143420603608172
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143420603608172
HP:0000407HP:0008587Mild neurosensory hearing impairment1DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143420603608172
HP:0000407HP:0008504Moderate sensorineural hearing impairment1DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143420603608172
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143420603608172
HP:0000407HP:0011476Profound sensorineural hearing impairment1DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143420603608172
HP:0000407HP:0000408Progressive sensorineural hearing impairment1DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143420603608172
HP:0000407HP:0008625Severe sensorineural hearing impairment1DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143420603608172
HP:0000407HP:0000410Mixed hearing impairment1DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA176417211605584
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA176417211605584
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA176417211605584
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA176417211605584
HP:0000407HP:0008527Congenital sensorineural hearing impairment1DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA176417211605584
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA176417211605584
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA176417211605584
HP:0000407HP:0008587Mild neurosensory hearing impairment1DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA176417211605584
HP:0000407HP:0008504Moderate sensorineural hearing impairment1DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA176417211605584
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA176417211605584
HP:0000407HP:0011476Profound sensorineural hearing impairment1DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA176417211605584
HP:0000407HP:0000408Progressive sensorineural hearing impairment1DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA176417211605584
HP:0000407HP:0008625Severe sensorineural hearing impairment1DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA176417211605584
HP:0000407HP:0000410Mixed hearing impairment1DIABLO CL E G H56616614152Deafness, autosomal dominant 64614152C3279948OMIM112821528605219
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1DIABLO CL E G H56616614152Deafness, autosomal dominant 64614152C3279948OMIM112821528605219
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1DIABLO CL E G H56616614152Deafness, autosomal dominant 64614152C3279948OMIM112821528605219
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1DIABLO CL E G H56616614152Deafness, autosomal dominant 64614152C3279948OMIM112821528605219
HP:0000407HP:0008527Congenital sensorineural hearing impairment1DIABLO CL E G H56616614152Deafness, autosomal dominant 64614152C3279948OMIM112821528605219
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1DIABLO CL E G H56616614152Deafness, autosomal dominant 64614152C3279948OMIM112821528605219
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1DIABLO CL E G H56616614152Deafness, autosomal dominant 64614152C3279948OMIM112821528605219
HP:0000407HP:0008587Mild neurosensory hearing impairment1DIABLO CL E G H56616614152Deafness, autosomal dominant 64614152C3279948OMIM112821528605219
HP:0000407HP:0008504Moderate sensorineural hearing impairment1DIABLO CL E G H56616614152Deafness, autosomal dominant 64614152C3279948OMIM112821528605219
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1DIABLO CL E G H56616614152Deafness, autosomal dominant 64614152C3279948OMIM112821528605219
HP:0000407HP:0011476Profound sensorineural hearing impairment1DIABLO CL E G H56616614152Deafness, autosomal dominant 64614152C3279948OMIM112821528605219
HP:0000407HP:0000408Progressive sensorineural hearing impairment1DIABLO CL E G H56616614152Deafness, autosomal dominant 64614152C3279948OMIM112821528605219
HP:0000407HP:0008625Severe sensorineural hearing impairment1DIABLO CL E G H56616614152Deafness, autosomal dominant 64614152C3279948OMIM112821528605219
HP:0000407HP:0000410Mixed hearing impairment1DIAPH1 CL E G H1729124900Deafness, autosomal dominant 1124900C1852282OMIM112212876602121
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1DIAPH1 CL E G H1729124900Deafness, autosomal dominant 1124900C1852282OMIM112212876602121
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1DIAPH1 CL E G H1729124900Deafness, autosomal dominant 1124900C1852282OMIM112212876602121
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1DIAPH1 CL E G H1729124900Deafness, autosomal dominant 1124900C1852282OMIM112212876602121
HP:0000407HP:0008527Congenital sensorineural hearing impairment1DIAPH1 CL E G H1729124900Deafness, autosomal dominant 1124900C1852282OMIM112212876602121
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1DIAPH1 CL E G H1729124900Deafness, autosomal dominant 1124900C1852282OMIM112212876602121
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1DIAPH1 CL E G H1729124900Deafness, autosomal dominant 1124900C1852282OMIM112212876602121
HP:0000407HP:0008587Mild neurosensory hearing impairment1DIAPH1 CL E G H1729124900Deafness, autosomal dominant 1124900C1852282OMIM112212876602121
HP:0000407HP:0008504Moderate sensorineural hearing impairment1DIAPH1 CL E G H1729124900Deafness, autosomal dominant 1124900C1852282OMIM112212876602121
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1DIAPH1 CL E G H1729124900Deafness, autosomal dominant 1124900C1852282OMIM112212876602121
HP:0000407HP:0011476Profound sensorineural hearing impairment1DIAPH1 CL E G H1729124900Deafness, autosomal dominant 1124900C1852282OMIM112212876602121
HP:0000407HP:0000408Progressive sensorineural hearing impairment1DIAPH1 CL E G H1729124900Deafness, autosomal dominant 1124900C1852282OMIM112212876602121
HP:0000407HP:0008625Severe sensorineural hearing impairment1DIAPH1 CL E G H1729124900Deafness, autosomal dominant 1124900C1852282OMIM112212876602121
HP:0000407HP:0000410Mixed hearing impairment1DIAPH3 CL E G H81624609129Auditory neuropathy, autosomal dominant, 1609129C1836743OMIM141515480614567
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1DIAPH3 CL E G H81624609129Auditory neuropathy, autosomal dominant, 1609129C1836743OMIM141515480614567
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1DIAPH3 CL E G H81624609129Auditory neuropathy, autosomal dominant, 1609129C1836743OMIM141515480614567
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1DIAPH3 CL E G H81624609129Auditory neuropathy, autosomal dominant, 1609129C1836743OMIM141515480614567
HP:0000407HP:0008527Congenital sensorineural hearing impairment1DIAPH3 CL E G H81624609129Auditory neuropathy, autosomal dominant, 1609129C1836743OMIM141515480614567
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1DIAPH3 CL E G H81624609129Auditory neuropathy, autosomal dominant, 1609129C1836743OMIM141515480614567
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1DIAPH3 CL E G H81624609129Auditory neuropathy, autosomal dominant, 1609129C1836743OMIM141515480614567
HP:0000407HP:0008587Mild neurosensory hearing impairment1DIAPH3 CL E G H81624609129Auditory neuropathy, autosomal dominant, 1609129C1836743OMIM141515480614567
HP:0000407HP:0008504Moderate sensorineural hearing impairment1DIAPH3 CL E G H81624609129Auditory neuropathy, autosomal dominant, 1609129C1836743OMIM141515480614567
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1DIAPH3 CL E G H81624609129Auditory neuropathy, autosomal dominant, 1609129C1836743OMIM141515480614567
HP:0000407HP:0011476Profound sensorineural hearing impairment1DIAPH3 CL E G H81624609129Auditory neuropathy, autosomal dominant, 1609129C1836743OMIM141515480614567
HP:0000407HP:0000408Progressive sensorineural hearing impairment1DIAPH3 CL E G H81624609129Auditory neuropathy, autosomal dominant, 1609129C1836743OMIM141515480614567
HP:0000407HP:0008625Severe sensorineural hearing impairment1DIAPH3 CL E G H81624609129Auditory neuropathy, autosomal dominant, 1609129C1836743OMIM141515480614567
HP:0000407HP:0000410Mixed hearing impairment1DLX5 CL E G H1749220600Split-hand/foot malformation 1 with sensorineural hearing loss220600C1857344OMIM1582918600028
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1DLX5 CL E G H1749220600Split-hand/foot malformation 1 with sensorineural hearing loss220600C1857344OMIM1582918600028
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1DLX5 CL E G H1749220600Split-hand/foot malformation 1 with sensorineural hearing loss220600C1857344OMIM1582918600028
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1DLX5 CL E G H1749220600Split-hand/foot malformation 1 with sensorineural hearing loss220600C1857344OMIM1582918600028
HP:0000407HP:0008527Congenital sensorineural hearing impairment1DLX5 CL E G H1749220600Split-hand/foot malformation 1 with sensorineural hearing loss220600C1857344OMIM1582918600028
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1DLX5 CL E G H1749220600Split-hand/foot malformation 1 with sensorineural hearing loss220600C1857344OMIM1582918600028
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1DLX5 CL E G H1749220600Split-hand/foot malformation 1 with sensorineural hearing loss220600C1857344OMIM1582918600028
HP:0000407HP:0008587Mild neurosensory hearing impairment1DLX5 CL E G H1749220600Split-hand/foot malformation 1 with sensorineural hearing loss220600C1857344OMIM1582918600028
HP:0000407HP:0008504Moderate sensorineural hearing impairment1DLX5 CL E G H1749220600Split-hand/foot malformation 1 with sensorineural hearing loss220600C1857344OMIM1582918600028
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1DLX5 CL E G H1749220600Split-hand/foot malformation 1 with sensorineural hearing loss220600C1857344OMIM1582918600028
HP:0000407HP:0011476Profound sensorineural hearing impairment1DLX5 CL E G H1749220600Split-hand/foot malformation 1 with sensorineural hearing loss220600C1857344OMIM1582918600028
HP:0000407HP:0000408Progressive sensorineural hearing impairment1DLX5 CL E G H1749220600Split-hand/foot malformation 1 with sensorineural hearing loss220600C1857344OMIM1582918600028
HP:0000407HP:0008625Severe sensorineural hearing impairment1DLX5 CL E G H1749220600Split-hand/foot malformation 1 with sensorineural hearing loss220600C1857344OMIM1582918600028
HP:0000407HP:0000410Mixed hearing impairment1DMP1 CL E G H1758289176ORPHA12092932600980
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1DMP1 CL E G H1758289176ORPHA12092932600980
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1DMP1 CL E G H1758289176ORPHA12092932600980
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1DMP1 CL E G H1758289176ORPHA12092932600980
HP:0000407HP:0008527Congenital sensorineural hearing impairment1DMP1 CL E G H1758289176ORPHA12092932600980
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1DMP1 CL E G H1758289176ORPHA12092932600980
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1DMP1 CL E G H1758289176ORPHA12092932600980
HP:0000407HP:0008587Mild neurosensory hearing impairment1DMP1 CL E G H1758289176ORPHA12092932600980
HP:0000407HP:0008504Moderate sensorineural hearing impairment1DMP1 CL E G H1758289176ORPHA12092932600980
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1DMP1 CL E G H1758289176ORPHA12092932600980
HP:0000407HP:0011476Profound sensorineural hearing impairment1DMP1 CL E G H1758289176ORPHA12092932600980
HP:0000407HP:0000408Progressive sensorineural hearing impairment1DMP1 CL E G H1758289176ORPHA12092932600980
HP:0000407HP:0008625Severe sensorineural hearing impairment1DMP1 CL E G H1758289176ORPHA12092932600980
HP:0000407HP:0000410Mixed hearing impairment1DMP1 CL E G H1758241520Autosomal recessive hypophosphatemic vitamin D refractory rickets241520C0342643OMIM12092932600980
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1DMP1 CL E G H1758241520Autosomal recessive hypophosphatemic vitamin D refractory rickets241520C0342643OMIM12092932600980
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1DMP1 CL E G H1758241520Autosomal recessive hypophosphatemic vitamin D refractory rickets241520C0342643OMIM12092932600980
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1DMP1 CL E G H1758241520Autosomal recessive hypophosphatemic vitamin D refractory rickets241520C0342643OMIM12092932600980
HP:0000407HP:0008527Congenital sensorineural hearing impairment1DMP1 CL E G H1758241520Autosomal recessive hypophosphatemic vitamin D refractory rickets241520C0342643OMIM12092932600980
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1DMP1 CL E G H1758241520Autosomal recessive hypophosphatemic vitamin D refractory rickets241520C0342643OMIM12092932600980
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1DMP1 CL E G H1758241520Autosomal recessive hypophosphatemic vitamin D refractory rickets241520C0342643OMIM12092932600980
HP:0000407HP:0008587Mild neurosensory hearing impairment1DMP1 CL E G H1758241520Autosomal recessive hypophosphatemic vitamin D refractory rickets241520C0342643OMIM12092932600980
HP:0000407HP:0008504Moderate sensorineural hearing impairment1DMP1 CL E G H1758241520Autosomal recessive hypophosphatemic vitamin D refractory rickets241520C0342643OMIM12092932600980
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1DMP1 CL E G H1758241520Autosomal recessive hypophosphatemic vitamin D refractory rickets241520C0342643OMIM12092932600980
HP:0000407HP:0011476Profound sensorineural hearing impairment1DMP1 CL E G H1758241520Autosomal recessive hypophosphatemic vitamin D refractory rickets241520C0342643OMIM12092932600980
HP:0000407HP:0000408Progressive sensorineural hearing impairment1DMP1 CL E G H1758241520Autosomal recessive hypophosphatemic vitamin D refractory rickets241520C0342643OMIM12092932600980
HP:0000407HP:0008625Severe sensorineural hearing impairment1DMP1 CL E G H1758241520Autosomal recessive hypophosphatemic vitamin D refractory rickets241520C0342643OMIM12092932600980
HP:0000407HP:0000410Mixed hearing impairment1DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0000407HP:0008527Congenital sensorineural hearing impairment1DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0000407HP:0008587Mild neurosensory hearing impairment1DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0000407HP:0008504Moderate sensorineural hearing impairment1DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0000407HP:0011476Profound sensorineural hearing impairment1DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0000407HP:0000408Progressive sensorineural hearing impairment1DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0000407HP:0008625Severe sensorineural hearing impairment1DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0000407HP:0000410Mixed hearing impairment1DNMT1 CL E G H1786314404ORPHA111962976126375
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1DNMT1 CL E G H1786314404ORPHA111962976126375
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1DNMT1 CL E G H1786314404ORPHA111962976126375
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1DNMT1 CL E G H1786314404ORPHA111962976126375
HP:0000407HP:0008527Congenital sensorineural hearing impairment1DNMT1 CL E G H1786314404ORPHA111962976126375
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1DNMT1 CL E G H1786314404ORPHA111962976126375
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1DNMT1 CL E G H1786314404ORPHA111962976126375
HP:0000407HP:0008587Mild neurosensory hearing impairment1DNMT1 CL E G H1786314404ORPHA111962976126375
HP:0000407HP:0008504Moderate sensorineural hearing impairment1DNMT1 CL E G H1786314404ORPHA111962976126375
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1DNMT1 CL E G H1786314404ORPHA111962976126375
HP:0000407HP:0011476Profound sensorineural hearing impairment1DNMT1 CL E G H1786314404ORPHA111962976126375
HP:0000407HP:0000408Progressive sensorineural hearing impairment1DNMT1 CL E G H1786314404ORPHA111962976126375
HP:0000407HP:0008625Severe sensorineural hearing impairment1DNMT1 CL E G H1786314404ORPHA111962976126375
HP:0000407HP:0000410Mixed hearing impairment1DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0000407HP:0008527Congenital sensorineural hearing impairment1DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0000407HP:0008587Mild neurosensory hearing impairment1DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0000407HP:0008504Moderate sensorineural hearing impairment1DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0000407HP:0011476Profound sensorineural hearing impairment1DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0000407HP:0000408Progressive sensorineural hearing impairment1DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0000407HP:0008625Severe sensorineural hearing impairment1DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0000407HP:0000410Mixed hearing impairment1DNMT1 CL E G H1786614116Hereditary sensory neuropathy type IE614116C3279885OMIM111962976126375
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1DNMT1 CL E G H1786614116Hereditary sensory neuropathy type IE614116C3279885OMIM111962976126375
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1DNMT1 CL E G H1786614116Hereditary sensory neuropathy type IE614116C3279885OMIM111962976126375
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1DNMT1 CL E G H1786614116Hereditary sensory neuropathy type IE614116C3279885OMIM111962976126375
HP:0000407HP:0008527Congenital sensorineural hearing impairment1DNMT1 CL E G H1786614116Hereditary sensory neuropathy type IE614116C3279885OMIM111962976126375
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1DNMT1 CL E G H1786614116Hereditary sensory neuropathy type IE614116C3279885OMIM111962976126375
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1DNMT1 CL E G H1786614116Hereditary sensory neuropathy type IE614116C3279885OMIM111962976126375
HP:0000407HP:0008587Mild neurosensory hearing impairment1DNMT1 CL E G H1786614116Hereditary sensory neuropathy type IE614116C3279885OMIM111962976126375
HP:0000407HP:0008504Moderate sensorineural hearing impairment1DNMT1 CL E G H1786614116Hereditary sensory neuropathy type IE614116C3279885OMIM111962976126375
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1DNMT1 CL E G H1786614116Hereditary sensory neuropathy type IE614116C3279885OMIM111962976126375
HP:0000407HP:0011476Profound sensorineural hearing impairment1DNMT1 CL E G H1786614116Hereditary sensory neuropathy type IE614116C3279885OMIM111962976126375
HP:0000407HP:0000408Progressive sensorineural hearing impairment1DNMT1 CL E G H1786614116Hereditary sensory neuropathy type IE614116C3279885OMIM111962976126375
HP:0000407HP:0008625Severe sensorineural hearing impairment1DNMT1 CL E G H1786614116Hereditary sensory neuropathy type IE614116C3279885OMIM111962976126375
HP:0000407HP:0000410Mixed hearing impairment1DUX4 CL E G H100288687269ORPHA1250800606009
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1DUX4 CL E G H100288687269ORPHA1250800606009
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1DUX4 CL E G H100288687269ORPHA1250800606009
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1DUX4 CL E G H100288687269ORPHA1250800606009
HP:0000407HP:0008527Congenital sensorineural hearing impairment1DUX4 CL E G H100288687269ORPHA1250800606009
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1DUX4 CL E G H100288687269ORPHA1250800606009
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1DUX4 CL E G H100288687269ORPHA1250800606009
HP:0000407HP:0008587Mild neurosensory hearing impairment1DUX4 CL E G H100288687269ORPHA1250800606009
HP:0000407HP:0008504Moderate sensorineural hearing impairment1DUX4 CL E G H100288687269ORPHA1250800606009
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1DUX4 CL E G H100288687269ORPHA1250800606009
HP:0000407HP:0011476Profound sensorineural hearing impairment1DUX4 CL E G H100288687269ORPHA1250800606009
HP:0000407HP:0000408Progressive sensorineural hearing impairment1DUX4 CL E G H100288687269ORPHA1250800606009
HP:0000407HP:0008625Severe sensorineural hearing impairment1DUX4 CL E G H100288687269ORPHA1250800606009
HP:0000407HP:0000410Mixed hearing impairment1EDN3 CL E G H1908613265Waardenburg syndrome type 4B613265C2750457OMIM11703178131242
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1EDN3 CL E G H1908613265Waardenburg syndrome type 4B613265C2750457OMIM11703178131242
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1EDN3 CL E G H1908613265Waardenburg syndrome type 4B613265C2750457OMIM11703178131242
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1EDN3 CL E G H1908613265Waardenburg syndrome type 4B613265C2750457OMIM11703178131242
HP:0000407HP:0008527Congenital sensorineural hearing impairment1EDN3 CL E G H1908613265Waardenburg syndrome type 4B613265C2750457OMIM11703178131242
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1EDN3 CL E G H1908613265Waardenburg syndrome type 4B613265C2750457OMIM11703178131242
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1EDN3 CL E G H1908613265Waardenburg syndrome type 4B613265C2750457OMIM11703178131242
HP:0000407HP:0008587Mild neurosensory hearing impairment1EDN3 CL E G H1908613265Waardenburg syndrome type 4B613265C2750457OMIM11703178131242
HP:0000407HP:0008504Moderate sensorineural hearing impairment1EDN3 CL E G H1908613265Waardenburg syndrome type 4B613265C2750457OMIM11703178131242
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1EDN3 CL E G H1908613265Waardenburg syndrome type 4B613265C2750457OMIM11703178131242
HP:0000407HP:0011476Profound sensorineural hearing impairment1EDN3 CL E G H1908613265Waardenburg syndrome type 4B613265C2750457OMIM11703178131242
HP:0000407HP:0000408Progressive sensorineural hearing impairment1EDN3 CL E G H1908613265Waardenburg syndrome type 4B613265C2750457OMIM11703178131242
HP:0000407HP:0008625Severe sensorineural hearing impairment1EDN3 CL E G H1908613265Waardenburg syndrome type 4B613265C2750457OMIM11703178131242
HP:0000407HP:0000410Mixed hearing impairment1EDNRB CL E G H1910895ORPHA13163180131244
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1EDNRB CL E G H1910895ORPHA13163180131244
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1EDNRB CL E G H1910895ORPHA13163180131244
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1EDNRB CL E G H1910895ORPHA13163180131244
HP:0000407HP:0008527Congenital sensorineural hearing impairment1EDNRB CL E G H1910895ORPHA13163180131244
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1EDNRB CL E G H1910895ORPHA13163180131244
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1EDNRB CL E G H1910895ORPHA13163180131244
HP:0000407HP:0008587Mild neurosensory hearing impairment1EDNRB CL E G H1910895ORPHA13163180131244
HP:0000407HP:0008504Moderate sensorineural hearing impairment1EDNRB CL E G H1910895ORPHA13163180131244
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1EDNRB CL E G H1910895ORPHA13163180131244
HP:0000407HP:0011476Profound sensorineural hearing impairment1EDNRB CL E G H1910895ORPHA13163180131244
HP:0000407HP:0000408Progressive sensorineural hearing impairment1EDNRB CL E G H1910895ORPHA13163180131244
HP:0000407HP:0008625Severe sensorineural hearing impairment1EDNRB CL E G H1910895ORPHA13163180131244
HP:0000407HP:0000410Mixed hearing impairment1EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM13163180131244
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM13163180131244
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM13163180131244
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM13163180131244
HP:0000407HP:0008527Congenital sensorineural hearing impairment1EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM13163180131244
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM13163180131244
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM13163180131244
HP:0000407HP:0008587Mild neurosensory hearing impairment1EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM13163180131244
HP:0000407HP:0008504Moderate sensorineural hearing impairment1EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM13163180131244
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM13163180131244
HP:0000407HP:0011476Profound sensorineural hearing impairment1EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM13163180131244
HP:0000407HP:0000408Progressive sensorineural hearing impairment1EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM13163180131244
HP:0000407HP:0008625Severe sensorineural hearing impairment1EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM13163180131244
HP:0000407HP:0000410Mixed hearing impairment1EFNB1 CL E G H19471520ORPHA12573226300035
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1EFNB1 CL E G H19471520ORPHA12573226300035
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1EFNB1 CL E G H19471520ORPHA12573226300035
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1EFNB1 CL E G H19471520ORPHA12573226300035
HP:0000407HP:0008527Congenital sensorineural hearing impairment1EFNB1 CL E G H19471520ORPHA12573226300035
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1EFNB1 CL E G H19471520ORPHA12573226300035
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1EFNB1 CL E G H19471520ORPHA12573226300035
HP:0000407HP:0008587Mild neurosensory hearing impairment1EFNB1 CL E G H19471520ORPHA12573226300035
HP:0000407HP:0008504Moderate sensorineural hearing impairment1EFNB1 CL E G H19471520ORPHA12573226300035
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1EFNB1 CL E G H19471520ORPHA12573226300035
HP:0000407HP:0011476Profound sensorineural hearing impairment1EFNB1 CL E G H19471520ORPHA12573226300035
HP:0000407HP:0000408Progressive sensorineural hearing impairment1EFNB1 CL E G H19471520ORPHA12573226300035
HP:0000407HP:0008625Severe sensorineural hearing impairment1EFNB1 CL E G H19471520ORPHA12573226300035
HP:0000407HP:0000410Mixed hearing impairment1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0000407HP:0008587Mild neurosensory hearing impairment1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0000407HP:0011476Profound sensorineural hearing impairment1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0000407HP:0008625Severe sensorineural hearing impairment1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0000407HP:0000410Mixed hearing impairment1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0000407HP:0008587Mild neurosensory hearing impairment1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0000407HP:0011476Profound sensorineural hearing impairment1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0000407HP:0008625Severe sensorineural hearing impairment1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0000407HP:0000410Mixed hearing impairment1ENPP1 CL E G H5167289176ORPHA15893356173335
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ENPP1 CL E G H5167289176ORPHA15893356173335
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ENPP1 CL E G H5167289176ORPHA15893356173335
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ENPP1 CL E G H5167289176ORPHA15893356173335
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ENPP1 CL E G H5167289176ORPHA15893356173335
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ENPP1 CL E G H5167289176ORPHA15893356173335
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ENPP1 CL E G H5167289176ORPHA15893356173335
HP:0000407HP:0008587Mild neurosensory hearing impairment1ENPP1 CL E G H5167289176ORPHA15893356173335
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ENPP1 CL E G H5167289176ORPHA15893356173335
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ENPP1 CL E G H5167289176ORPHA15893356173335
HP:0000407HP:0011476Profound sensorineural hearing impairment1ENPP1 CL E G H5167289176ORPHA15893356173335
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ENPP1 CL E G H5167289176ORPHA15893356173335
HP:0000407HP:0008625Severe sensorineural hearing impairment1ENPP1 CL E G H5167289176ORPHA15893356173335
HP:0000407HP:0000410Mixed hearing impairment1ERCC1 CL E G H20671466ORPHA11613433126380
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ERCC1 CL E G H20671466ORPHA11613433126380
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ERCC1 CL E G H20671466ORPHA11613433126380
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ERCC1 CL E G H20671466ORPHA11613433126380
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ERCC1 CL E G H20671466ORPHA11613433126380
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ERCC1 CL E G H20671466ORPHA11613433126380
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ERCC1 CL E G H20671466ORPHA11613433126380
HP:0000407HP:0008587Mild neurosensory hearing impairment1ERCC1 CL E G H20671466ORPHA11613433126380
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ERCC1 CL E G H20671466ORPHA11613433126380
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ERCC1 CL E G H20671466ORPHA11613433126380
HP:0000407HP:0011476Profound sensorineural hearing impairment1ERCC1 CL E G H20671466ORPHA11613433126380
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ERCC1 CL E G H20671466ORPHA11613433126380
HP:0000407HP:0008625Severe sensorineural hearing impairment1ERCC1 CL E G H20671466ORPHA11613433126380
HP:0000407HP:0000410Mixed hearing impairment1ERCC2 CL E G H20681466ORPHA115723434126340
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ERCC2 CL E G H20681466ORPHA115723434126340
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ERCC2 CL E G H20681466ORPHA115723434126340
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ERCC2 CL E G H20681466ORPHA115723434126340
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ERCC2 CL E G H20681466ORPHA115723434126340
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ERCC2 CL E G H20681466ORPHA115723434126340
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ERCC2 CL E G H20681466ORPHA115723434126340
HP:0000407HP:0008587Mild neurosensory hearing impairment1ERCC2 CL E G H20681466ORPHA115723434126340
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ERCC2 CL E G H20681466ORPHA115723434126340
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ERCC2 CL E G H20681466ORPHA115723434126340
HP:0000407HP:0011476Profound sensorineural hearing impairment1ERCC2 CL E G H20681466ORPHA115723434126340
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ERCC2 CL E G H20681466ORPHA115723434126340
HP:0000407HP:0008625Severe sensorineural hearing impairment1ERCC2 CL E G H20681466ORPHA115723434126340
HP:0000407HP:0000410Mixed hearing impairment1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA115723434126340
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA115723434126340
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA115723434126340
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA115723434126340
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA115723434126340
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA115723434126340
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA115723434126340
HP:0000407HP:0008587Mild neurosensory hearing impairment1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA115723434126340
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA115723434126340
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA115723434126340
HP:0000407HP:0011476Profound sensorineural hearing impairment1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA115723434126340
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA115723434126340
HP:0000407HP:0008625Severe sensorineural hearing impairment1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA115723434126340
HP:0000407HP:0000410Mixed hearing impairment1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0000407HP:0008587Mild neurosensory hearing impairment1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0000407HP:0011476Profound sensorineural hearing impairment1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0000407HP:0008625Severe sensorineural hearing impairment1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0000407HP:0000410Mixed hearing impairment1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA15233435133510
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA15233435133510
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA15233435133510
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA15233435133510
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA15233435133510
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA15233435133510
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA15233435133510
HP:0000407HP:0008587Mild neurosensory hearing impairment1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA15233435133510
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA15233435133510
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA15233435133510
HP:0000407HP:0011476Profound sensorineural hearing impairment1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA15233435133510
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA15233435133510
HP:0000407HP:0008625Severe sensorineural hearing impairment1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA15233435133510
HP:0000407HP:0000410Mixed hearing impairment1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM15233435133510
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM15233435133510
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM15233435133510
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM15233435133510
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM15233435133510
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM15233435133510
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM15233435133510
HP:0000407HP:0008587Mild neurosensory hearing impairment1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM15233435133510
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM15233435133510
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM15233435133510
HP:0000407HP:0011476Profound sensorineural hearing impairment1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM15233435133510
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM15233435133510
HP:0000407HP:0008625Severe sensorineural hearing impairment1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM15233435133510
HP:0000407HP:0000410Mixed hearing impairment1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA17263436133520
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA17263436133520
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA17263436133520
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA17263436133520
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA17263436133520
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA17263436133520
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA17263436133520
HP:0000407HP:0008587Mild neurosensory hearing impairment1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA17263436133520
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA17263436133520
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA17263436133520
HP:0000407HP:0011476Profound sensorineural hearing impairment1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA17263436133520
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA17263436133520
HP:0000407HP:0008625Severe sensorineural hearing impairment1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA17263436133520
HP:0000407HP:0000410Mixed hearing impairment1ERCC5 CL E G H20731466ORPHA14913437133530
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ERCC5 CL E G H20731466ORPHA14913437133530
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ERCC5 CL E G H20731466ORPHA14913437133530
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ERCC5 CL E G H20731466ORPHA14913437133530
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ERCC5 CL E G H20731466ORPHA14913437133530
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ERCC5 CL E G H20731466ORPHA14913437133530
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ERCC5 CL E G H20731466ORPHA14913437133530
HP:0000407HP:0008587Mild neurosensory hearing impairment1ERCC5 CL E G H20731466ORPHA14913437133530
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ERCC5 CL E G H20731466ORPHA14913437133530
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ERCC5 CL E G H20731466ORPHA14913437133530
HP:0000407HP:0011476Profound sensorineural hearing impairment1ERCC5 CL E G H20731466ORPHA14913437133530
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ERCC5 CL E G H20731466ORPHA14913437133530
HP:0000407HP:0008625Severe sensorineural hearing impairment1ERCC5 CL E G H20731466ORPHA14913437133530
HP:0000407HP:0000410Mixed hearing impairment1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA14913437133530
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA14913437133530
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA14913437133530
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA14913437133530
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA14913437133530
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA14913437133530
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA14913437133530
HP:0000407HP:0008587Mild neurosensory hearing impairment1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA14913437133530
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA14913437133530
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA14913437133530
HP:0000407HP:0011476Profound sensorineural hearing impairment1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA14913437133530
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA14913437133530
HP:0000407HP:0008625Severe sensorineural hearing impairment1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA14913437133530
HP:0000407HP:0000410Mixed hearing impairment1ERCC6 CL E G H20741466ORPHA116453438609413
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ERCC6 CL E G H20741466ORPHA116453438609413
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ERCC6 CL E G H20741466ORPHA116453438609413
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ERCC6 CL E G H20741466ORPHA116453438609413
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ERCC6 CL E G H20741466ORPHA116453438609413
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ERCC6 CL E G H20741466ORPHA116453438609413
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ERCC6 CL E G H20741466ORPHA116453438609413
HP:0000407HP:0008587Mild neurosensory hearing impairment1ERCC6 CL E G H20741466ORPHA116453438609413
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ERCC6 CL E G H20741466ORPHA116453438609413
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ERCC6 CL E G H20741466ORPHA116453438609413
HP:0000407HP:0011476Profound sensorineural hearing impairment1ERCC6 CL E G H20741466ORPHA116453438609413
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ERCC6 CL E G H20741466ORPHA116453438609413
HP:0000407HP:0008625Severe sensorineural hearing impairment1ERCC6 CL E G H20741466ORPHA116453438609413
HP:0000407HP:0000410Mixed hearing impairment1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM116453438609413
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM116453438609413
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM116453438609413
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM116453438609413
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM116453438609413
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM116453438609413
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM116453438609413
HP:0000407HP:0008587Mild neurosensory hearing impairment1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM116453438609413
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM116453438609413
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM116453438609413
HP:0000407HP:0011476Profound sensorineural hearing impairment1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM116453438609413
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM116453438609413
HP:0000407HP:0008625Severe sensorineural hearing impairment1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM116453438609413
HP:0000407HP:0000410Mixed hearing impairment1ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM116453438609413
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM116453438609413
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM116453438609413
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM116453438609413
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM116453438609413
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM116453438609413
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM116453438609413
HP:0000407HP:0008587Mild neurosensory hearing impairment1ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM116453438609413
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM116453438609413
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM116453438609413
HP:0000407HP:0011476Profound sensorineural hearing impairment1ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM116453438609413
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM116453438609413
HP:0000407HP:0008625Severe sensorineural hearing impairment1ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM116453438609413
HP:0000407HP:0000410Mixed hearing impairment1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0000407HP:0008587Mild neurosensory hearing impairment1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0000407HP:0011476Profound sensorineural hearing impairment1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0000407HP:0008625Severe sensorineural hearing impairment1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0000407HP:0000410Mixed hearing impairment1ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM14843439609412
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM14843439609412
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM14843439609412
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM14843439609412
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM14843439609412
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM14843439609412
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM14843439609412
HP:0000407HP:0008587Mild neurosensory hearing impairment1ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM14843439609412
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM14843439609412
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM14843439609412
HP:0000407HP:0011476Profound sensorineural hearing impairment1ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM14843439609412
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM14843439609412
HP:0000407HP:0008625Severe sensorineural hearing impairment1ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM14843439609412
HP:0000407HP:0000410Mixed hearing impairment1ESPN CL E G H83715609006Deafness, autosomal recessive 36, with or without vestibular involvement609006C1837007OMIM143013281606351
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ESPN CL E G H83715609006Deafness, autosomal recessive 36, with or without vestibular involvement609006C1837007OMIM143013281606351
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ESPN CL E G H83715609006Deafness, autosomal recessive 36, with or without vestibular involvement609006C1837007OMIM143013281606351
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ESPN CL E G H83715609006Deafness, autosomal recessive 36, with or without vestibular involvement609006C1837007OMIM143013281606351
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ESPN CL E G H83715609006Deafness, autosomal recessive 36, with or without vestibular involvement609006C1837007OMIM143013281606351
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ESPN CL E G H83715609006Deafness, autosomal recessive 36, with or without vestibular involvement609006C1837007OMIM143013281606351
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ESPN CL E G H83715609006Deafness, autosomal recessive 36, with or without vestibular involvement609006C1837007OMIM143013281606351
HP:0000407HP:0008587Mild neurosensory hearing impairment1ESPN CL E G H83715609006Deafness, autosomal recessive 36, with or without vestibular involvement609006C1837007OMIM143013281606351
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ESPN CL E G H83715609006Deafness, autosomal recessive 36, with or without vestibular involvement609006C1837007OMIM143013281606351
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ESPN CL E G H83715609006Deafness, autosomal recessive 36, with or without vestibular involvement609006C1837007OMIM143013281606351
HP:0000407HP:0011476Profound sensorineural hearing impairment1ESPN CL E G H83715609006Deafness, autosomal recessive 36, with or without vestibular involvement609006C1837007OMIM143013281606351
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ESPN CL E G H83715609006Deafness, autosomal recessive 36, with or without vestibular involvement609006C1837007OMIM143013281606351
HP:0000407HP:0008625Severe sensorineural hearing impairment1ESPN CL E G H83715609006Deafness, autosomal recessive 36, with or without vestibular involvement609006C1837007OMIM143013281606351
HP:0000407HP:0000410Mixed hearing impairment1ESRRB CL E G H2103608565Deafness, autosomal recessive 35608565C1837857OMIM12553473602167
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ESRRB CL E G H2103608565Deafness, autosomal recessive 35608565C1837857OMIM12553473602167
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ESRRB CL E G H2103608565Deafness, autosomal recessive 35608565C1837857OMIM12553473602167
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ESRRB CL E G H2103608565Deafness, autosomal recessive 35608565C1837857OMIM12553473602167
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ESRRB CL E G H2103608565Deafness, autosomal recessive 35608565C1837857OMIM12553473602167
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ESRRB CL E G H2103608565Deafness, autosomal recessive 35608565C1837857OMIM12553473602167
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ESRRB CL E G H2103608565Deafness, autosomal recessive 35608565C1837857OMIM12553473602167
HP:0000407HP:0008587Mild neurosensory hearing impairment1ESRRB CL E G H2103608565Deafness, autosomal recessive 35608565C1837857OMIM12553473602167
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ESRRB CL E G H2103608565Deafness, autosomal recessive 35608565C1837857OMIM12553473602167
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ESRRB CL E G H2103608565Deafness, autosomal recessive 35608565C1837857OMIM12553473602167
HP:0000407HP:0011476Profound sensorineural hearing impairment1ESRRB CL E G H2103608565Deafness, autosomal recessive 35608565C1837857OMIM12553473602167
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ESRRB CL E G H2103608565Deafness, autosomal recessive 35608565C1837857OMIM12553473602167
HP:0000407HP:0008625Severe sensorineural hearing impairment1ESRRB CL E G H2103608565Deafness, autosomal recessive 35608565C1837857OMIM12553473602167
HP:0000407HP:0000410Mixed hearing impairment1EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM127717097602238
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM127717097602238
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM127717097602238
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM127717097602238
HP:0000407HP:0008527Congenital sensorineural hearing impairment1EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM127717097602238
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM127717097602238
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM127717097602238
HP:0000407HP:0008587Mild neurosensory hearing impairment1EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM127717097602238
HP:0000407HP:0008504Moderate sensorineural hearing impairment1EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM127717097602238
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM127717097602238
HP:0000407HP:0011476Profound sensorineural hearing impairment1EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM127717097602238
HP:0000407HP:0000408Progressive sensorineural hearing impairment1EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM127717097602238
HP:0000407HP:0008625Severe sensorineural hearing impairment1EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM127717097602238
HP:0000407HP:0000410Mixed hearing impairment1EYA1 CL E G H213852429ORPHA15133519601653
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1EYA1 CL E G H213852429ORPHA15133519601653
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1EYA1 CL E G H213852429ORPHA15133519601653
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1EYA1 CL E G H213852429ORPHA15133519601653
HP:0000407HP:0008527Congenital sensorineural hearing impairment1EYA1 CL E G H213852429ORPHA15133519601653
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1EYA1 CL E G H213852429ORPHA15133519601653
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1EYA1 CL E G H213852429ORPHA15133519601653
HP:0000407HP:0008587Mild neurosensory hearing impairment1EYA1 CL E G H213852429ORPHA15133519601653
HP:0000407HP:0008504Moderate sensorineural hearing impairment1EYA1 CL E G H213852429ORPHA15133519601653
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1EYA1 CL E G H213852429ORPHA15133519601653
HP:0000407HP:0011476Profound sensorineural hearing impairment1EYA1 CL E G H213852429ORPHA15133519601653
HP:0000407HP:0000408Progressive sensorineural hearing impairment1EYA1 CL E G H213852429ORPHA15133519601653
HP:0000407HP:0008625Severe sensorineural hearing impairment1EYA1 CL E G H213852429ORPHA15133519601653
HP:0000407HP:0000410Mixed hearing impairment1EYA1 CL E G H2138602588Branchiootic syndrome602588C1865143OMIM15133519601653
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1EYA1 CL E G H2138602588Branchiootic syndrome602588C1865143OMIM15133519601653
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1EYA1 CL E G H2138602588Branchiootic syndrome602588C1865143OMIM15133519601653
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1EYA1 CL E G H2138602588Branchiootic syndrome602588C1865143OMIM15133519601653
HP:0000407HP:0008527Congenital sensorineural hearing impairment1EYA1 CL E G H2138602588Branchiootic syndrome602588C1865143OMIM15133519601653
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1EYA1 CL E G H2138602588Branchiootic syndrome602588C1865143OMIM15133519601653
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1EYA1 CL E G H2138602588Branchiootic syndrome602588C1865143OMIM15133519601653
HP:0000407HP:0008587Mild neurosensory hearing impairment1EYA1 CL E G H2138602588Branchiootic syndrome602588C1865143OMIM15133519601653
HP:0000407HP:0008504Moderate sensorineural hearing impairment1EYA1 CL E G H2138602588Branchiootic syndrome602588C1865143OMIM15133519601653
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1EYA1 CL E G H2138602588Branchiootic syndrome602588C1865143OMIM15133519601653
HP:0000407HP:0011476Profound sensorineural hearing impairment1EYA1 CL E G H2138602588Branchiootic syndrome602588C1865143OMIM15133519601653
HP:0000407HP:0000408Progressive sensorineural hearing impairment1EYA1 CL E G H2138602588Branchiootic syndrome602588C1865143OMIM15133519601653
HP:0000407HP:0008625Severe sensorineural hearing impairment1EYA1 CL E G H2138602588Branchiootic syndrome602588C1865143OMIM15133519601653
HP:0000407HP:0000410Mixed hearing impairment1EYA4 CL E G H2070601316Deafness, autosomal dominant 10601316C1832476OMIM18373522603550
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1EYA4 CL E G H2070601316Deafness, autosomal dominant 10601316C1832476OMIM18373522603550
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1EYA4 CL E G H2070601316Deafness, autosomal dominant 10601316C1832476OMIM18373522603550
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1EYA4 CL E G H2070601316Deafness, autosomal dominant 10601316C1832476OMIM18373522603550
HP:0000407HP:0008527Congenital sensorineural hearing impairment1EYA4 CL E G H2070601316Deafness, autosomal dominant 10601316C1832476OMIM18373522603550
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1EYA4 CL E G H2070601316Deafness, autosomal dominant 10601316C1832476OMIM18373522603550
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1EYA4 CL E G H2070601316Deafness, autosomal dominant 10601316C1832476OMIM18373522603550
HP:0000407HP:0008587Mild neurosensory hearing impairment1EYA4 CL E G H2070601316Deafness, autosomal dominant 10601316C1832476OMIM18373522603550
HP:0000407HP:0008504Moderate sensorineural hearing impairment1EYA4 CL E G H2070601316Deafness, autosomal dominant 10601316C1832476OMIM18373522603550
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1EYA4 CL E G H2070601316Deafness, autosomal dominant 10601316C1832476OMIM18373522603550
HP:0000407HP:0011476Profound sensorineural hearing impairment1EYA4 CL E G H2070601316Deafness, autosomal dominant 10601316C1832476OMIM18373522603550
HP:0000407HP:0000408Progressive sensorineural hearing impairment1EYA4 CL E G H2070601316Deafness, autosomal dominant 10601316C1832476OMIM18373522603550
HP:0000407HP:0008625Severe sensorineural hearing impairment1EYA4 CL E G H2070601316Deafness, autosomal dominant 10601316C1832476OMIM18373522603550
HP:0000407HP:0000410Mixed hearing impairment1EYA4 CL E G H2070605362Dilated cardiomyopathy 1J605362C1854368OMIM18373522603550
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1EYA4 CL E G H2070605362Dilated cardiomyopathy 1J605362C1854368OMIM18373522603550
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1EYA4 CL E G H2070605362Dilated cardiomyopathy 1J605362C1854368OMIM18373522603550
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1EYA4 CL E G H2070605362Dilated cardiomyopathy 1J605362C1854368OMIM18373522603550
HP:0000407HP:0008527Congenital sensorineural hearing impairment1EYA4 CL E G H2070605362Dilated cardiomyopathy 1J605362C1854368OMIM18373522603550
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1EYA4 CL E G H2070605362Dilated cardiomyopathy 1J605362C1854368OMIM18373522603550
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1EYA4 CL E G H2070605362Dilated cardiomyopathy 1J605362C1854368OMIM18373522603550
HP:0000407HP:0008587Mild neurosensory hearing impairment1EYA4 CL E G H2070605362Dilated cardiomyopathy 1J605362C1854368OMIM18373522603550
HP:0000407HP:0008504Moderate sensorineural hearing impairment1EYA4 CL E G H2070605362Dilated cardiomyopathy 1J605362C1854368OMIM18373522603550
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1EYA4 CL E G H2070605362Dilated cardiomyopathy 1J605362C1854368OMIM18373522603550
HP:0000407HP:0011476Profound sensorineural hearing impairment1EYA4 CL E G H2070605362Dilated cardiomyopathy 1J605362C1854368OMIM18373522603550
HP:0000407HP:0000408Progressive sensorineural hearing impairment1EYA4 CL E G H2070605362Dilated cardiomyopathy 1J605362C1854368OMIM18373522603550
HP:0000407HP:0008625Severe sensorineural hearing impairment1EYA4 CL E G H2070605362Dilated cardiomyopathy 1J605362C1854368OMIM18373522603550
HP:0000407HP:0000410Mixed hearing impairment1EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1383021555612424
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1383021555612424
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1383021555612424
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1383021555612424
HP:0000407HP:0008527Congenital sensorineural hearing impairment1EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1383021555612424
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1383021555612424
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1383021555612424
HP:0000407HP:0008587Mild neurosensory hearing impairment1EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1383021555612424
HP:0000407HP:0008504Moderate sensorineural hearing impairment1EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1383021555612424
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1383021555612424
HP:0000407HP:0011476Profound sensorineural hearing impairment1EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1383021555612424
HP:0000407HP:0000408Progressive sensorineural hearing impairment1EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1383021555612424
HP:0000407HP:0008625Severe sensorineural hearing impairment1EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1383021555612424
HP:0000407HP:0000410Mixed hearing impairment1FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA169925808613596
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA169925808613596
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA169925808613596
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA169925808613596
HP:0000407HP:0008527Congenital sensorineural hearing impairment1FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA169925808613596
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA169925808613596
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA169925808613596
HP:0000407HP:0008587Mild neurosensory hearing impairment1FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA169925808613596
HP:0000407HP:0008504Moderate sensorineural hearing impairment1FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA169925808613596
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA169925808613596
HP:0000407HP:0011476Profound sensorineural hearing impairment1FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA169925808613596
HP:0000407HP:0000408Progressive sensorineural hearing impairment1FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA169925808613596
HP:0000407HP:0008625Severe sensorineural hearing impairment1FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA169925808613596
HP:0000407HP:0000410Mixed hearing impairment1FAS CL E G H3553437ORPHA138711920134637
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1FAS CL E G H3553437ORPHA138711920134637
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1FAS CL E G H3553437ORPHA138711920134637
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1FAS CL E G H3553437ORPHA138711920134637
HP:0000407HP:0008527Congenital sensorineural hearing impairment1FAS CL E G H3553437ORPHA138711920134637
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1FAS CL E G H3553437ORPHA138711920134637
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1FAS CL E G H3553437ORPHA138711920134637
HP:0000407HP:0008587Mild neurosensory hearing impairment1FAS CL E G H3553437ORPHA138711920134637
HP:0000407HP:0008504Moderate sensorineural hearing impairment1FAS CL E G H3553437ORPHA138711920134637
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1FAS CL E G H3553437ORPHA138711920134637
HP:0000407HP:0011476Profound sensorineural hearing impairment1FAS CL E G H3553437ORPHA138711920134637
HP:0000407HP:0000408Progressive sensorineural hearing impairment1FAS CL E G H3553437ORPHA138711920134637
HP:0000407HP:0008625Severe sensorineural hearing impairment1FAS CL E G H3553437ORPHA138711920134637
HP:0000407HP:0000410Mixed hearing impairment1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0000407HP:0008527Congenital sensorineural hearing impairment1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0000407HP:0008587Mild neurosensory hearing impairment1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0000407HP:0008504Moderate sensorineural hearing impairment1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0000407HP:0011476Profound sensorineural hearing impairment1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0000407HP:0000408Progressive sensorineural hearing impairment1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0000407HP:0008625Severe sensorineural hearing impairment1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0000407HP:0000410Mixed hearing impairment1FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM1219423109612411
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM1219423109612411
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM1219423109612411
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM1219423109612411
HP:0000407HP:0008527Congenital sensorineural hearing impairment1FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM1219423109612411
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM1219423109612411
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM1219423109612411
HP:0000407HP:0008587Mild neurosensory hearing impairment1FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM1219423109612411
HP:0000407HP:0008504Moderate sensorineural hearing impairment1FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM1219423109612411
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM1219423109612411
HP:0000407HP:0011476Profound sensorineural hearing impairment1FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM1219423109612411
HP:0000407HP:0000408Progressive sensorineural hearing impairment1FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM1219423109612411
HP:0000407HP:0008625Severe sensorineural hearing impairment1FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM1219423109612411
HP:0000407HP:0000410Mixed hearing impairment1FGF3 CL E G H224890024ORPHA11073681164950
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1FGF3 CL E G H224890024ORPHA11073681164950
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1FGF3 CL E G H224890024ORPHA11073681164950
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1FGF3 CL E G H224890024ORPHA11073681164950
HP:0000407HP:0008527Congenital sensorineural hearing impairment1FGF3 CL E G H224890024ORPHA11073681164950
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1FGF3 CL E G H224890024ORPHA11073681164950
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1FGF3 CL E G H224890024ORPHA11073681164950
HP:0000407HP:0008587Mild neurosensory hearing impairment1FGF3 CL E G H224890024ORPHA11073681164950
HP:0000407HP:0008504Moderate sensorineural hearing impairment1FGF3 CL E G H224890024ORPHA11073681164950
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1FGF3 CL E G H224890024ORPHA11073681164950
HP:0000407HP:0011476Profound sensorineural hearing impairment1FGF3 CL E G H224890024ORPHA11073681164950
HP:0000407HP:0000408Progressive sensorineural hearing impairment1FGF3 CL E G H224890024ORPHA11073681164950
HP:0000407HP:0008625Severe sensorineural hearing impairment1FGF3 CL E G H224890024ORPHA11073681164950
HP:0000407HP:0000410Mixed hearing impairment1FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM19363688136350
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM19363688136350
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM19363688136350
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM19363688136350
HP:0000407HP:0008527Congenital sensorineural hearing impairment1FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM19363688136350
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM19363688136350
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM19363688136350
HP:0000407HP:0008587Mild neurosensory hearing impairment1FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM19363688136350
HP:0000407HP:0008504Moderate sensorineural hearing impairment1FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM19363688136350
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM19363688136350
HP:0000407HP:0011476Profound sensorineural hearing impairment1FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM19363688136350
HP:0000407HP:0000408Progressive sensorineural hearing impairment1FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM19363688136350
HP:0000407HP:0008625Severe sensorineural hearing impairment1FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM19363688136350
HP:0000407HP:0000410Mixed hearing impairment1FGFR3 CL E G H226153271ORPHA19163690134934
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1FGFR3 CL E G H226153271ORPHA19163690134934
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1FGFR3 CL E G H226153271ORPHA19163690134934
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1FGFR3 CL E G H226153271ORPHA19163690134934
HP:0000407HP:0008527Congenital sensorineural hearing impairment1FGFR3 CL E G H226153271ORPHA19163690134934
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1FGFR3 CL E G H226153271ORPHA19163690134934
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1FGFR3 CL E G H226153271ORPHA19163690134934
HP:0000407HP:0008587Mild neurosensory hearing impairment1FGFR3 CL E G H226153271ORPHA19163690134934
HP:0000407HP:0008504Moderate sensorineural hearing impairment1FGFR3 CL E G H226153271ORPHA19163690134934
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1FGFR3 CL E G H226153271ORPHA19163690134934
HP:0000407HP:0011476Profound sensorineural hearing impairment1FGFR3 CL E G H226153271ORPHA19163690134934
HP:0000407HP:0000408Progressive sensorineural hearing impairment1FGFR3 CL E G H226153271ORPHA19163690134934
HP:0000407HP:0008625Severe sensorineural hearing impairment1FGFR3 CL E G H226153271ORPHA19163690134934
HP:0000407HP:0000410Mixed hearing impairment1FGFR3 CL E G H2261610474Camptodactyly, tall stature, and hearing loss syndrome610474C1864852OMIM19163690134934
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1FGFR3 CL E G H2261610474Camptodactyly, tall stature, and hearing loss syndrome610474C1864852OMIM19163690134934
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1FGFR3 CL E G H2261610474Camptodactyly, tall stature, and hearing loss syndrome610474C1864852OMIM19163690134934
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1FGFR3 CL E G H2261610474Camptodactyly, tall stature, and hearing loss syndrome610474C1864852OMIM19163690134934
HP:0000407HP:0008527Congenital sensorineural hearing impairment1FGFR3 CL E G H2261610474Camptodactyly, tall stature, and hearing loss syndrome610474C1864852OMIM19163690134934
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1FGFR3 CL E G H2261610474Camptodactyly, tall stature, and hearing loss syndrome610474C1864852OMIM19163690134934
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1FGFR3 CL E G H2261610474Camptodactyly, tall stature, and hearing loss syndrome610474C1864852OMIM19163690134934
HP:0000407HP:0008587Mild neurosensory hearing impairment1FGFR3 CL E G H2261610474Camptodactyly, tall stature, and hearing loss syndrome610474C1864852OMIM19163690134934
HP:0000407HP:0008504Moderate sensorineural hearing impairment1FGFR3 CL E G H2261610474Camptodactyly, tall stature, and hearing loss syndrome610474C1864852OMIM19163690134934
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1FGFR3 CL E G H2261610474Camptodactyly, tall stature, and hearing loss syndrome610474C1864852OMIM19163690134934
HP:0000407HP:0011476Profound sensorineural hearing impairment1FGFR3 CL E G H2261610474Camptodactyly, tall stature, and hearing loss syndrome610474C1864852OMIM19163690134934
HP:0000407HP:0000408Progressive sensorineural hearing impairment1FGFR3 CL E G H2261610474Camptodactyly, tall stature, and hearing loss syndrome610474C1864852OMIM19163690134934
HP:0000407HP:0008625Severe sensorineural hearing impairment1FGFR3 CL E G H2261610474Camptodactyly, tall stature, and hearing loss syndrome610474C1864852OMIM19163690134934
HP:0000407HP:0000410Mixed hearing impairment1FGFR3 CL E G H2261602849Muenke syndrome602849C1864436OMIM19163690134934
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1FGFR3 CL E G H2261602849Muenke syndrome602849C1864436OMIM19163690134934
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1FGFR3 CL E G H2261602849Muenke syndrome602849C1864436OMIM19163690134934
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1FGFR3 CL E G H2261602849Muenke syndrome602849C1864436OMIM19163690134934
HP:0000407HP:0008527Congenital sensorineural hearing impairment1FGFR3 CL E G H2261602849Muenke syndrome602849C1864436OMIM19163690134934
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1FGFR3 CL E G H2261602849Muenke syndrome602849C1864436OMIM19163690134934
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1FGFR3 CL E G H2261602849Muenke syndrome602849C1864436OMIM19163690134934
HP:0000407HP:0008587Mild neurosensory hearing impairment1FGFR3 CL E G H2261602849Muenke syndrome602849C1864436OMIM19163690134934
HP:0000407HP:0008504Moderate sensorineural hearing impairment1FGFR3 CL E G H2261602849Muenke syndrome602849C1864436OMIM19163690134934
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1FGFR3 CL E G H2261602849Muenke syndrome602849C1864436OMIM19163690134934
HP:0000407HP:0011476Profound sensorineural hearing impairment1FGFR3 CL E G H2261602849Muenke syndrome602849C1864436OMIM19163690134934
HP:0000407HP:0000408Progressive sensorineural hearing impairment1FGFR3 CL E G H2261602849Muenke syndrome602849C1864436OMIM19163690134934
HP:0000407HP:0008625Severe sensorineural hearing impairment1FGFR3 CL E G H2261602849Muenke syndrome602849C1864436OMIM19163690134934
HP:0000407HP:0000410Mixed hearing impairment1FKBP14 CL E G H55033300179ORPHA122018625614505
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1FKBP14 CL E G H55033300179ORPHA122018625614505
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1FKBP14 CL E G H55033300179ORPHA122018625614505
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1FKBP14 CL E G H55033300179ORPHA122018625614505
HP:0000407HP:0008527Congenital sensorineural hearing impairment1FKBP14 CL E G H55033300179ORPHA122018625614505
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1FKBP14 CL E G H55033300179ORPHA122018625614505
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1FKBP14 CL E G H55033300179ORPHA122018625614505
HP:0000407HP:0008587Mild neurosensory hearing impairment1FKBP14 CL E G H55033300179ORPHA122018625614505
HP:0000407HP:0008504Moderate sensorineural hearing impairment1FKBP14 CL E G H55033300179ORPHA122018625614505
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1FKBP14 CL E G H55033300179ORPHA122018625614505
HP:0000407HP:0011476Profound sensorineural hearing impairment1FKBP14 CL E G H55033300179ORPHA122018625614505
HP:0000407HP:0000408Progressive sensorineural hearing impairment1FKBP14 CL E G H55033300179ORPHA122018625614505
HP:0000407HP:0008625Severe sensorineural hearing impairment1FKBP14 CL E G H55033300179ORPHA122018625614505
HP:0000407HP:0000410Mixed hearing impairment1FLNA CL E G H23161826Dexamethasone sensitive hypertensionORPHA130333754300017
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1FLNA CL E G H23161826Dexamethasone sensitive hypertensionORPHA130333754300017
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1FLNA CL E G H23161826Dexamethasone sensitive hypertensionORPHA130333754300017
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1FLNA CL E G H23161826Dexamethasone sensitive hypertensionORPHA130333754300017
HP:0000407HP:0008527Congenital sensorineural hearing impairment1FLNA CL E G H23161826Dexamethasone sensitive hypertensionORPHA130333754300017
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1FLNA CL E G H23161826Dexamethasone sensitive hypertensionORPHA130333754300017
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1FLNA CL E G H23161826Dexamethasone sensitive hypertensionORPHA130333754300017
HP:0000407HP:0008587Mild neurosensory hearing impairment1FLNA CL E G H23161826Dexamethasone sensitive hypertensionORPHA130333754300017
HP:0000407HP:0008504Moderate sensorineural hearing impairment1FLNA CL E G H23161826Dexamethasone sensitive hypertensionORPHA130333754300017
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1FLNA CL E G H23161826Dexamethasone sensitive hypertensionORPHA130333754300017
HP:0000407HP:0011476Profound sensorineural hearing impairment1FLNA CL E G H23161826Dexamethasone sensitive hypertensionORPHA130333754300017
HP:0000407HP:0000408Progressive sensorineural hearing impairment1FLNA CL E G H23161826Dexamethasone sensitive hypertensionORPHA130333754300017
HP:0000407HP:0008625Severe sensorineural hearing impairment1FLNA CL E G H23161826Dexamethasone sensitive hypertensionORPHA130333754300017
HP:0000407HP:0000410Mixed hearing impairment1FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM130333754300017
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM130333754300017
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM130333754300017
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM130333754300017
HP:0000407HP:0008527Congenital sensorineural hearing impairment1FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM130333754300017
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM130333754300017
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM130333754300017
HP:0000407HP:0008587Mild neurosensory hearing impairment1FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM130333754300017
HP:0000407HP:0008504Moderate sensorineural hearing impairment1FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM130333754300017
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM130333754300017
HP:0000407HP:0011476Profound sensorineural hearing impairment1FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM130333754300017
HP:0000407HP:0000408Progressive sensorineural hearing impairment1FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM130333754300017
HP:0000407HP:0008625Severe sensorineural hearing impairment1FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM130333754300017
HP:0000407HP:0000410Mixed hearing impairment1FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM116243755603381
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM116243755603381
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM116243755603381
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM116243755603381
HP:0000407HP:0008527Congenital sensorineural hearing impairment1FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM116243755603381
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM116243755603381
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM116243755603381
HP:0000407HP:0008587Mild neurosensory hearing impairment1FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM116243755603381
HP:0000407HP:0008504Moderate sensorineural hearing impairment1FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM116243755603381
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM116243755603381
HP:0000407HP:0011476Profound sensorineural hearing impairment1FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM116243755603381
HP:0000407HP:0000408Progressive sensorineural hearing impairment1FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM116243755603381
HP:0000407HP:0008625Severe sensorineural hearing impairment1FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM116243755603381
HP:0000407HP:0000410Mixed hearing impairment1FOXC1 CL E G H2296602482Axenfeld-Rieger syndrome type 3602482C2678503OMIM15573800601090
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1FOXC1 CL E G H2296602482Axenfeld-Rieger syndrome type 3602482C2678503OMIM15573800601090
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1FOXC1 CL E G H2296602482Axenfeld-Rieger syndrome type 3602482C2678503OMIM15573800601090
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1FOXC1 CL E G H2296602482Axenfeld-Rieger syndrome type 3602482C2678503OMIM15573800601090
HP:0000407HP:0008527Congenital sensorineural hearing impairment1FOXC1 CL E G H2296602482Axenfeld-Rieger syndrome type 3602482C2678503OMIM15573800601090
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1FOXC1 CL E G H2296602482Axenfeld-Rieger syndrome type 3602482C2678503OMIM15573800601090
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1FOXC1 CL E G H2296602482Axenfeld-Rieger syndrome type 3602482C2678503OMIM15573800601090
HP:0000407HP:0008587Mild neurosensory hearing impairment1FOXC1 CL E G H2296602482Axenfeld-Rieger syndrome type 3602482C2678503OMIM15573800601090
HP:0000407HP:0008504Moderate sensorineural hearing impairment1FOXC1 CL E G H2296602482Axenfeld-Rieger syndrome type 3602482C2678503OMIM15573800601090
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1FOXC1 CL E G H2296602482Axenfeld-Rieger syndrome type 3602482C2678503OMIM15573800601090
HP:0000407HP:0011476Profound sensorineural hearing impairment1FOXC1 CL E G H2296602482Axenfeld-Rieger syndrome type 3602482C2678503OMIM15573800601090
HP:0000407HP:0000408Progressive sensorineural hearing impairment1FOXC1 CL E G H2296602482Axenfeld-Rieger syndrome type 3602482C2678503OMIM15573800601090
HP:0000407HP:0008625Severe sensorineural hearing impairment1FOXC1 CL E G H2296602482Axenfeld-Rieger syndrome type 3602482C2678503OMIM15573800601090
HP:0000407HP:0000410Mixed hearing impairment1FOXI1 CL E G H2299705ORPHA11533815601093
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1FOXI1 CL E G H2299705ORPHA11533815601093
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1FOXI1 CL E G H2299705ORPHA11533815601093
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1FOXI1 CL E G H2299705ORPHA11533815601093
HP:0000407HP:0008527Congenital sensorineural hearing impairment1FOXI1 CL E G H2299705ORPHA11533815601093
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1FOXI1 CL E G H2299705ORPHA11533815601093
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1FOXI1 CL E G H2299705ORPHA11533815601093
HP:0000407HP:0008587Mild neurosensory hearing impairment1FOXI1 CL E G H2299705ORPHA11533815601093
HP:0000407HP:0008504Moderate sensorineural hearing impairment1FOXI1 CL E G H2299705ORPHA11533815601093
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1FOXI1 CL E G H2299705ORPHA11533815601093
HP:0000407HP:0011476Profound sensorineural hearing impairment1FOXI1 CL E G H2299705ORPHA11533815601093
HP:0000407HP:0000408Progressive sensorineural hearing impairment1FOXI1 CL E G H2299705ORPHA11533815601093
HP:0000407HP:0008625Severe sensorineural hearing impairment1FOXI1 CL E G H2299705ORPHA11533815601093
HP:0000407HP:0000410Mixed hearing impairment1FOXI1 CL E G H2299600791Enlarged vestibular aqueduct600791C1863752OMIM11533815601093
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1FOXI1 CL E G H2299600791Enlarged vestibular aqueduct600791C1863752OMIM11533815601093
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1FOXI1 CL E G H2299600791Enlarged vestibular aqueduct600791C1863752OMIM11533815601093
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1FOXI1 CL E G H2299600791Enlarged vestibular aqueduct600791C1863752OMIM11533815601093
HP:0000407HP:0008527Congenital sensorineural hearing impairment1FOXI1 CL E G H2299600791Enlarged vestibular aqueduct600791C1863752OMIM11533815601093
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1FOXI1 CL E G H2299600791Enlarged vestibular aqueduct600791C1863752OMIM11533815601093
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1FOXI1 CL E G H2299600791Enlarged vestibular aqueduct600791C1863752OMIM11533815601093
HP:0000407HP:0008587Mild neurosensory hearing impairment1FOXI1 CL E G H2299600791Enlarged vestibular aqueduct600791C1863752OMIM11533815601093
HP:0000407HP:0008504Moderate sensorineural hearing impairment1FOXI1 CL E G H2299600791Enlarged vestibular aqueduct600791C1863752OMIM11533815601093
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1FOXI1 CL E G H2299600791Enlarged vestibular aqueduct600791C1863752OMIM11533815601093
HP:0000407HP:0011476Profound sensorineural hearing impairment1FOXI1 CL E G H2299600791Enlarged vestibular aqueduct600791C1863752OMIM11533815601093
HP:0000407HP:0000408Progressive sensorineural hearing impairment1FOXI1 CL E G H2299600791Enlarged vestibular aqueduct600791C1863752OMIM11533815601093
HP:0000407HP:0008625Severe sensorineural hearing impairment1FOXI1 CL E G H2299600791Enlarged vestibular aqueduct600791C1863752OMIM11533815601093
HP:0000407HP:0000410Mixed hearing impairment1FRG1 CL E G H2483269ORPHA11363954601278
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1FRG1 CL E G H2483269ORPHA11363954601278
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1FRG1 CL E G H2483269ORPHA11363954601278
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1FRG1 CL E G H2483269ORPHA11363954601278
HP:0000407HP:0008527Congenital sensorineural hearing impairment1FRG1 CL E G H2483269ORPHA11363954601278
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1FRG1 CL E G H2483269ORPHA11363954601278
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1FRG1 CL E G H2483269ORPHA11363954601278
HP:0000407HP:0008587Mild neurosensory hearing impairment1FRG1 CL E G H2483269ORPHA11363954601278
HP:0000407HP:0008504Moderate sensorineural hearing impairment1FRG1 CL E G H2483269ORPHA11363954601278
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1FRG1 CL E G H2483269ORPHA11363954601278
HP:0000407HP:0011476Profound sensorineural hearing impairment1FRG1 CL E G H2483269ORPHA11363954601278
HP:0000407HP:0000408Progressive sensorineural hearing impairment1FRG1 CL E G H2483269ORPHA11363954601278
HP:0000407HP:0008625Severe sensorineural hearing impairment1FRG1 CL E G H2483269ORPHA11363954601278
HP:0000407HP:0000410Mixed hearing impairment1FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM11363954601278
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM11363954601278
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM11363954601278
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM11363954601278
HP:0000407HP:0008527Congenital sensorineural hearing impairment1FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM11363954601278
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM11363954601278
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM11363954601278
HP:0000407HP:0008587Mild neurosensory hearing impairment1FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM11363954601278
HP:0000407HP:0008504Moderate sensorineural hearing impairment1FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM11363954601278
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM11363954601278
HP:0000407HP:0011476Profound sensorineural hearing impairment1FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM11363954601278
HP:0000407HP:0000408Progressive sensorineural hearing impairment1FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM11363954601278
HP:0000407HP:0008625Severe sensorineural hearing impairment1FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM11363954601278
HP:0000407HP:0000410Mixed hearing impairment1FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15803960607643
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15803960607643
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15803960607643
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15803960607643
HP:0000407HP:0008527Congenital sensorineural hearing impairment1FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15803960607643
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15803960607643
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15803960607643
HP:0000407HP:0008587Mild neurosensory hearing impairment1FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15803960607643
HP:0000407HP:0008504Moderate sensorineural hearing impairment1FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15803960607643
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15803960607643
HP:0000407HP:0011476Profound sensorineural hearing impairment1FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15803960607643
HP:0000407HP:0000408Progressive sensorineural hearing impairment1FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15803960607643
HP:0000407HP:0008625Severe sensorineural hearing impairment1FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15803960607643
HP:0000407HP:0000410Mixed hearing impairment1FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0000407HP:0008527Congenital sensorineural hearing impairment1FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0000407HP:0008587Mild neurosensory hearing impairment1FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0000407HP:0008504Moderate sensorineural hearing impairment1FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0000407HP:0011476Profound sensorineural hearing impairment1FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0000407HP:0000408Progressive sensorineural hearing impairment1FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0000407HP:0008625Severe sensorineural hearing impairment1FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0000407HP:0000410Mixed hearing impairment1GAB1 CL E G H2549605428Deafness, autosomal recessive 26605428C1854275OMIM1654066604439
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1GAB1 CL E G H2549605428Deafness, autosomal recessive 26605428C1854275OMIM1654066604439
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1GAB1 CL E G H2549605428Deafness, autosomal recessive 26605428C1854275OMIM1654066604439
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1GAB1 CL E G H2549605428Deafness, autosomal recessive 26605428C1854275OMIM1654066604439
HP:0000407HP:0008527Congenital sensorineural hearing impairment1GAB1 CL E G H2549605428Deafness, autosomal recessive 26605428C1854275OMIM1654066604439
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1GAB1 CL E G H2549605428Deafness, autosomal recessive 26605428C1854275OMIM1654066604439
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1GAB1 CL E G H2549605428Deafness, autosomal recessive 26605428C1854275OMIM1654066604439
HP:0000407HP:0008587Mild neurosensory hearing impairment1GAB1 CL E G H2549605428Deafness, autosomal recessive 26605428C1854275OMIM1654066604439
HP:0000407HP:0008504Moderate sensorineural hearing impairment1GAB1 CL E G H2549605428Deafness, autosomal recessive 26605428C1854275OMIM1654066604439
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1GAB1 CL E G H2549605428Deafness, autosomal recessive 26605428C1854275OMIM1654066604439
HP:0000407HP:0011476Profound sensorineural hearing impairment1GAB1 CL E G H2549605428Deafness, autosomal recessive 26605428C1854275OMIM1654066604439
HP:0000407HP:0000408Progressive sensorineural hearing impairment1GAB1 CL E G H2549605428Deafness, autosomal recessive 26605428C1854275OMIM1654066604439
HP:0000407HP:0008625Severe sensorineural hearing impairment1GAB1 CL E G H2549605428Deafness, autosomal recessive 26605428C1854275OMIM1654066604439
HP:0000407HP:0000410Mixed hearing impairment1GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0000407HP:0008527Congenital sensorineural hearing impairment1GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0000407HP:0008587Mild neurosensory hearing impairment1GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0000407HP:0008504Moderate sensorineural hearing impairment1GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0000407HP:0011476Profound sensorineural hearing impairment1GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0000407HP:0000408Progressive sensorineural hearing impairment1GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0000407HP:0008625Severe sensorineural hearing impairment1GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0000407HP:0000410Mixed hearing impairment1GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA113144171137295
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA113144171137295
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA113144171137295
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA113144171137295
HP:0000407HP:0008527Congenital sensorineural hearing impairment1GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA113144171137295
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA113144171137295
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA113144171137295
HP:0000407HP:0008587Mild neurosensory hearing impairment1GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA113144171137295
HP:0000407HP:0008504Moderate sensorineural hearing impairment1GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA113144171137295
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA113144171137295
HP:0000407HP:0011476Profound sensorineural hearing impairment1GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA113144171137295
HP:0000407HP:0000408Progressive sensorineural hearing impairment1GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA113144171137295
HP:0000407HP:0008625Severe sensorineural hearing impairment1GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA113144171137295
HP:0000407HP:0000410Mixed hearing impairment1GDF5 CL E G H82003250ORPHA12454220601146
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1GDF5 CL E G H82003250ORPHA12454220601146
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1GDF5 CL E G H82003250ORPHA12454220601146
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1GDF5 CL E G H82003250ORPHA12454220601146
HP:0000407HP:0008527Congenital sensorineural hearing impairment1GDF5 CL E G H82003250ORPHA12454220601146
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1GDF5 CL E G H82003250ORPHA12454220601146
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1GDF5 CL E G H82003250ORPHA12454220601146
HP:0000407HP:0008587Mild neurosensory hearing impairment1GDF5 CL E G H82003250ORPHA12454220601146
HP:0000407HP:0008504Moderate sensorineural hearing impairment1GDF5 CL E G H82003250ORPHA12454220601146
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1GDF5 CL E G H82003250ORPHA12454220601146
HP:0000407HP:0011476Profound sensorineural hearing impairment1GDF5 CL E G H82003250ORPHA12454220601146
HP:0000407HP:0000408Progressive sensorineural hearing impairment1GDF5 CL E G H82003250ORPHA12454220601146
HP:0000407HP:0008625Severe sensorineural hearing impairment1GDF5 CL E G H82003250ORPHA12454220601146
HP:0000407HP:0000410Mixed hearing impairment1GFER CL E G H2671613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay613076C2751320OMIM12004236600924
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1GFER CL E G H2671613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay613076C2751320OMIM12004236600924
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1GFER CL E G H2671613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay613076C2751320OMIM12004236600924
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1GFER CL E G H2671613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay613076C2751320OMIM12004236600924
HP:0000407HP:0008527Congenital sensorineural hearing impairment1GFER CL E G H2671613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay613076C2751320OMIM12004236600924
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1GFER CL E G H2671613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay613076C2751320OMIM12004236600924
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1GFER CL E G H2671613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay613076C2751320OMIM12004236600924
HP:0000407HP:0008587Mild neurosensory hearing impairment1GFER CL E G H2671613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay613076C2751320OMIM12004236600924
HP:0000407HP:0008504Moderate sensorineural hearing impairment1GFER CL E G H2671613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay613076C2751320OMIM12004236600924
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1GFER CL E G H2671613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay613076C2751320OMIM12004236600924
HP:0000407HP:0011476Profound sensorineural hearing impairment1GFER CL E G H2671613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay613076C2751320OMIM12004236600924
HP:0000407HP:0000408Progressive sensorineural hearing impairment1GFER CL E G H2671613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay613076C2751320OMIM12004236600924
HP:0000407HP:0008625Severe sensorineural hearing impairment1GFER CL E G H2671613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay613076C2751320OMIM12004236600924
HP:0000407HP:0000410Mixed hearing impairment1GJB2 CL E G H2706477ORPHA15714284121011
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1GJB2 CL E G H2706477ORPHA15714284121011
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1GJB2 CL E G H2706477ORPHA15714284121011
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1GJB2 CL E G H2706477ORPHA15714284121011
HP:0000407HP:0008527Congenital sensorineural hearing impairment1GJB2 CL E G H2706477ORPHA15714284121011
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1GJB2 CL E G H2706477ORPHA15714284121011
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1GJB2 CL E G H2706477ORPHA15714284121011
HP:0000407HP:0008587Mild neurosensory hearing impairment1GJB2 CL E G H2706477ORPHA15714284121011
HP:0000407HP:0008504Moderate sensorineural hearing impairment1GJB2 CL E G H2706477ORPHA15714284121011
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1GJB2 CL E G H2706477ORPHA15714284121011
HP:0000407HP:0011476Profound sensorineural hearing impairment1GJB2 CL E G H2706477ORPHA15714284121011
HP:0000407HP:0000408Progressive sensorineural hearing impairment1GJB2 CL E G H2706477ORPHA15714284121011
HP:0000407HP:0008625Severe sensorineural hearing impairment1GJB2 CL E G H2706477ORPHA15714284121011
HP:0000407HP:0000410Mixed hearing impairment1GJB2 CL E G H2706494ORPHA15714284121011
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1GJB2 CL E G H2706494ORPHA15714284121011
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1GJB2 CL E G H2706494ORPHA15714284121011
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1GJB2 CL E G H2706494ORPHA15714284121011
HP:0000407HP:0008527Congenital sensorineural hearing impairment1GJB2 CL E G H2706494ORPHA15714284121011
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1GJB2 CL E G H2706494ORPHA15714284121011
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1GJB2 CL E G H2706494ORPHA15714284121011
HP:0000407HP:0008587Mild neurosensory hearing impairment1GJB2 CL E G H2706494ORPHA15714284121011
HP:0000407HP:0008504Moderate sensorineural hearing impairment1GJB2 CL E G H2706494ORPHA15714284121011
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1GJB2 CL E G H2706494ORPHA15714284121011
HP:0000407HP:0011476Profound sensorineural hearing impairment1GJB2 CL E G H2706494ORPHA15714284121011
HP:0000407HP:0000408Progressive sensorineural hearing impairment1GJB2 CL E G H2706494ORPHA15714284121011
HP:0000407HP:0008625Severe sensorineural hearing impairment1GJB2 CL E G H2706494ORPHA15714284121011
HP:0000407HP:0000410Mixed hearing impairment1GJB2 CL E G H27062698ORPHA15714284121011
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1GJB2 CL E G H27062698ORPHA15714284121011
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1GJB2 CL E G H27062698ORPHA15714284121011
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1GJB2 CL E G H27062698ORPHA15714284121011
HP:0000407HP:0008527Congenital sensorineural hearing impairment1GJB2 CL E G H27062698ORPHA15714284121011
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1GJB2 CL E G H27062698ORPHA15714284121011
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1GJB2 CL E G H27062698ORPHA15714284121011
HP:0000407HP:0008587Mild neurosensory hearing impairment1GJB2 CL E G H27062698ORPHA15714284121011
HP:0000407HP:0008504Moderate sensorineural hearing impairment1GJB2 CL E G H27062698ORPHA15714284121011
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1GJB2 CL E G H27062698ORPHA15714284121011
HP:0000407HP:0011476Profound sensorineural hearing impairment1GJB2 CL E G H27062698ORPHA15714284121011
HP:0000407HP:0000408Progressive sensorineural hearing impairment1GJB2 CL E G H27062698ORPHA15714284121011
HP:0000407HP:0008625Severe sensorineural hearing impairment1GJB2 CL E G H27062698ORPHA15714284121011
HP:0000407HP:0000410Mixed hearing impairment1GJB2 CL E G H2706601544Deafness, autosomal dominant 3a601544C2675750OMIM15714284121011
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1GJB2 CL E G H2706601544Deafness, autosomal dominant 3a601544C2675750OMIM15714284121011
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1GJB2 CL E G H2706601544Deafness, autosomal dominant 3a601544C2675750OMIM15714284121011
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1GJB2 CL E G H2706601544Deafness, autosomal dominant 3a601544C2675750OMIM15714284121011
HP:0000407HP:0008527Congenital sensorineural hearing impairment1GJB2 CL E G H2706601544Deafness, autosomal dominant 3a601544C2675750OMIM15714284121011
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1GJB2 CL E G H2706601544Deafness, autosomal dominant 3a601544C2675750OMIM15714284121011
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1GJB2 CL E G H2706601544Deafness, autosomal dominant 3a601544C2675750OMIM15714284121011
HP:0000407HP:0008587Mild neurosensory hearing impairment1GJB2 CL E G H2706601544Deafness, autosomal dominant 3a601544C2675750OMIM15714284121011
HP:0000407HP:0008504Moderate sensorineural hearing impairment1GJB2 CL E G H2706601544Deafness, autosomal dominant 3a601544C2675750OMIM15714284121011
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1GJB2 CL E G H2706601544Deafness, autosomal dominant 3a601544C2675750OMIM15714284121011
HP:0000407HP:0011476Profound sensorineural hearing impairment1GJB2 CL E G H2706601544Deafness, autosomal dominant 3a601544C2675750OMIM15714284121011
HP:0000407HP:0000408Progressive sensorineural hearing impairment1GJB2 CL E G H2706601544Deafness, autosomal dominant 3a601544C2675750OMIM15714284121011
HP:0000407HP:0008625Severe sensorineural hearing impairment1GJB2 CL E G H2706601544Deafness, autosomal dominant 3a601544C2675750OMIM15714284121011
HP:0000407HP:0000410Mixed hearing impairment1GJB2 CL E G H2706220290Deafness, autosomal recessive 1A220290C2673759OMIM15714284121011
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1GJB2 CL E G H2706220290Deafness, autosomal recessive 1A220290C2673759OMIM15714284121011
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1GJB2 CL E G H2706220290Deafness, autosomal recessive 1A220290C2673759OMIM15714284121011
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1GJB2 CL E G H2706220290Deafness, autosomal recessive 1A220290C2673759OMIM15714284121011
HP:0000407HP:0008527Congenital sensorineural hearing impairment1GJB2 CL E G H2706220290Deafness, autosomal recessive 1A220290C2673759OMIM15714284121011
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1GJB2 CL E G H2706220290Deafness, autosomal recessive 1A220290C2673759OMIM15714284121011
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1GJB2 CL E G H2706220290Deafness, autosomal recessive 1A220290C2673759OMIM15714284121011
HP:0000407HP:0008587Mild neurosensory hearing impairment1GJB2 CL E G H2706220290Deafness, autosomal recessive 1A220290C2673759OMIM15714284121011
HP:0000407HP:0008504Moderate sensorineural hearing impairment1GJB2 CL E G H2706220290Deafness, autosomal recessive 1A220290C2673759OMIM15714284121011
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1GJB2 CL E G H2706220290Deafness, autosomal recessive 1A220290C2673759OMIM15714284121011
HP:0000407HP:0011476Profound sensorineural hearing impairment1GJB2 CL E G H2706220290Deafness, autosomal recessive 1A220290C2673759OMIM15714284121011
HP:0000407HP:0000408Progressive sensorineural hearing impairment1GJB2 CL E G H2706220290Deafness, autosomal recessive 1A220290C2673759OMIM15714284121011
HP:0000407HP:0008625Severe sensorineural hearing impairment1GJB2 CL E G H2706220290Deafness, autosomal recessive 1A220290C2673759OMIM15714284121011
HP:0000407HP:0000410Mixed hearing impairment1GJB2 CL E G H27062202Exostoses anetodermia brachydactyly type EORPHA15714284121011
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1GJB2 CL E G H27062202Exostoses anetodermia brachydactyly type EORPHA15714284121011
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1GJB2 CL E G H27062202Exostoses anetodermia brachydactyly type EORPHA15714284121011
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1GJB2 CL E G H27062202Exostoses anetodermia brachydactyly type EORPHA15714284121011
HP:0000407HP:0008527Congenital sensorineural hearing impairment1GJB2 CL E G H27062202Exostoses anetodermia brachydactyly type EORPHA15714284121011
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1GJB2 CL E G H27062202Exostoses anetodermia brachydactyly type EORPHA15714284121011
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1GJB2 CL E G H27062202Exostoses anetodermia brachydactyly type EORPHA15714284121011
HP:0000407HP:0008587Mild neurosensory hearing impairment1GJB2 CL E G H27062202Exostoses anetodermia brachydactyly type EORPHA15714284121011
HP:0000407HP:0008504Moderate sensorineural hearing impairment1GJB2 CL E G H27062202Exostoses anetodermia brachydactyly type EORPHA15714284121011
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1GJB2 CL E G H27062202Exostoses anetodermia brachydactyly type EORPHA15714284121011
HP:0000407HP:0011476Profound sensorineural hearing impairment1GJB2 CL E G H27062202Exostoses anetodermia brachydactyly type EORPHA15714284121011
HP:0000407HP:0000408Progressive sensorineural hearing impairment1GJB2 CL E G H27062202Exostoses anetodermia brachydactyly type EORPHA15714284121011
HP:0000407HP:0008625Severe sensorineural hearing impairment1GJB2 CL E G H27062202Exostoses anetodermia brachydactyly type EORPHA15714284121011
HP:0000407HP:0000410Mixed hearing impairment1GJB2 CL E G H2706602540Hystrix-like ichthyosis with deafness602540C1865234OMIM15714284121011
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1GJB2 CL E G H2706602540Hystrix-like ichthyosis with deafness602540C1865234OMIM15714284121011
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1GJB2 CL E G H2706602540Hystrix-like ichthyosis with deafness602540C1865234OMIM15714284121011
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1GJB2 CL E G H2706602540Hystrix-like ichthyosis with deafness602540C1865234OMIM15714284121011
HP:0000407HP:0008527Congenital sensorineural hearing impairment1GJB2 CL E G H2706602540Hystrix-like ichthyosis with deafness602540C1865234OMIM15714284121011
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1GJB2 CL E G H2706602540Hystrix-like ichthyosis with deafness602540C1865234OMIM15714284121011
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1GJB2 CL E G H2706602540Hystrix-like ichthyosis with deafness602540C1865234OMIM15714284121011
HP:0000407HP:0008587Mild neurosensory hearing impairment1GJB2 CL E G H2706602540Hystrix-like ichthyosis with deafness602540C1865234OMIM15714284121011
HP:0000407HP:0008504Moderate sensorineural hearing impairment1GJB2 CL E G H2706602540Hystrix-like ichthyosis with deafness602540C1865234OMIM15714284121011
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1GJB2 CL E G H2706602540Hystrix-like ichthyosis with deafness602540C1865234OMIM15714284121011
HP:0000407HP:0011476Profound sensorineural hearing impairment1GJB2 CL E G H2706602540Hystrix-like ichthyosis with deafness602540C1865234OMIM15714284121011
HP:0000407HP:0000408Progressive sensorineural hearing impairment1GJB2 CL E G H2706602540Hystrix-like ichthyosis with deafness602540C1865234OMIM15714284121011
HP:0000407HP:0008625Severe sensorineural hearing impairment1GJB2 CL E G H2706602540Hystrix-like ichthyosis with deafness602540C1865234OMIM15714284121011
HP:0000407HP:0000410Mixed hearing impairment1GJB2 CL E G H2706148210Keratitis-ichthyosis-deafness syndrome, autosomal dominant148210C1835678OMIM15714284121011
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1GJB2 CL E G H2706148210Keratitis-ichthyosis-deafness syndrome, autosomal dominant148210C1835678OMIM15714284121011
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1GJB2 CL E G H2706148210Keratitis-ichthyosis-deafness syndrome, autosomal dominant148210C1835678OMIM15714284121011
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1GJB2 CL E G H2706148210Keratitis-ichthyosis-deafness syndrome, autosomal dominant148210C1835678OMIM15714284121011
HP:0000407HP:0008527Congenital sensorineural hearing impairment1GJB2 CL E G H2706148210Keratitis-ichthyosis-deafness syndrome, autosomal dominant148210C1835678OMIM15714284121011
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1GJB2 CL E G H2706148210Keratitis-ichthyosis-deafness syndrome, autosomal dominant148210C1835678OMIM15714284121011
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1GJB2 CL E G H2706148210Keratitis-ichthyosis-deafness syndrome, autosomal dominant148210C1835678OMIM15714284121011
HP:0000407HP:0008587Mild neurosensory hearing impairment1GJB2 CL E G H2706148210Keratitis-ichthyosis-deafness syndrome, autosomal dominant148210C1835678OMIM15714284121011
HP:0000407HP:0008504Moderate sensorineural hearing impairment1GJB2 CL E G H2706148210Keratitis-ichthyosis-deafness syndrome, autosomal dominant148210C1835678OMIM15714284121011
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1GJB2 CL E G H2706148210Keratitis-ichthyosis-deafness syndrome, autosomal dominant148210C1835678OMIM15714284121011
HP:0000407HP:0011476Profound sensorineural hearing impairment1GJB2 CL E G H2706148210Keratitis-ichthyosis-deafness syndrome, autosomal dominant148210C1835678OMIM15714284121011
HP:0000407HP:0000408Progressive sensorineural hearing impairment1GJB2 CL E G H2706148210Keratitis-ichthyosis-deafness syndrome, autosomal dominant148210C1835678OMIM15714284121011
HP:0000407HP:0008625Severe sensorineural hearing impairment1GJB2 CL E G H2706148210Keratitis-ichthyosis-deafness syndrome, autosomal dominant148210C1835678OMIM15714284121011
HP:0000407HP:0000410Mixed hearing impairment1GJB3 CL E G H2707220290Deafness, autosomal recessive 1A220290C2673759OMIM11954285603324
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1GJB3 CL E G H2707220290Deafness, autosomal recessive 1A220290C2673759OMIM11954285603324
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1GJB3 CL E G H2707220290Deafness, autosomal recessive 1A220290C2673759OMIM11954285603324
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1GJB3 CL E G H2707220290Deafness, autosomal recessive 1A220290C2673759OMIM11954285603324
HP:0000407HP:0008527Congenital sensorineural hearing impairment1GJB3 CL E G H2707220290Deafness, autosomal recessive 1A220290C2673759OMIM11954285603324
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1GJB3 CL E G H2707220290Deafness, autosomal recessive 1A220290C2673759OMIM11954285603324
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1GJB3 CL E G H2707220290Deafness, autosomal recessive 1A220290C2673759OMIM11954285603324
HP:0000407HP:0008587Mild neurosensory hearing impairment1GJB3 CL E G H2707220290Deafness, autosomal recessive 1A220290C2673759OMIM11954285603324
HP:0000407HP:0008504Moderate sensorineural hearing impairment1GJB3 CL E G H2707220290Deafness, autosomal recessive 1A220290C2673759OMIM11954285603324
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1GJB3 CL E G H2707220290Deafness, autosomal recessive 1A220290C2673759OMIM11954285603324
HP:0000407HP:0011476Profound sensorineural hearing impairment1GJB3 CL E G H2707220290Deafness, autosomal recessive 1A220290C2673759OMIM11954285603324
HP:0000407HP:0000408Progressive sensorineural hearing impairment1GJB3 CL E G H2707220290Deafness, autosomal recessive 1A220290C2673759OMIM11954285603324
HP:0000407HP:0008625Severe sensorineural hearing impairment1GJB3 CL E G H2707220290Deafness, autosomal recessive 1A220290C2673759OMIM11954285603324
HP:0000407HP:0000410Mixed hearing impairment1GJB6 CL E G H10804477ORPHA12564288604418
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1GJB6 CL E G H10804477ORPHA12564288604418
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1GJB6 CL E G H10804477ORPHA12564288604418
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1GJB6 CL E G H10804477ORPHA12564288604418
HP:0000407HP:0008527Congenital sensorineural hearing impairment1GJB6 CL E G H10804477ORPHA12564288604418
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1GJB6 CL E G H10804477ORPHA12564288604418
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1GJB6 CL E G H10804477ORPHA12564288604418
HP:0000407HP:0008587Mild neurosensory hearing impairment1GJB6 CL E G H10804477ORPHA12564288604418
HP:0000407HP:0008504Moderate sensorineural hearing impairment1GJB6 CL E G H10804477ORPHA12564288604418
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1GJB6 CL E G H10804477ORPHA12564288604418
HP:0000407HP:0011476Profound sensorineural hearing impairment1GJB6 CL E G H10804477ORPHA12564288604418
HP:0000407HP:0000408Progressive sensorineural hearing impairment1GJB6 CL E G H10804477ORPHA12564288604418
HP:0000407HP:0008625Severe sensorineural hearing impairment1GJB6 CL E G H10804477ORPHA12564288604418
HP:0000407HP:0000410Mixed hearing impairment1GJB6 CL E G H10804220290Deafness, autosomal recessive 1A220290C2673759OMIM12564288604418
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1GJB6 CL E G H10804220290Deafness, autosomal recessive 1A220290C2673759OMIM12564288604418
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1GJB6 CL E G H10804220290Deafness, autosomal recessive 1A220290C2673759OMIM12564288604418
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1GJB6 CL E G H10804220290Deafness, autosomal recessive 1A220290C2673759OMIM12564288604418
HP:0000407HP:0008527Congenital sensorineural hearing impairment1GJB6 CL E G H10804220290Deafness, autosomal recessive 1A220290C2673759OMIM12564288604418
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1GJB6 CL E G H10804220290Deafness, autosomal recessive 1A220290C2673759OMIM12564288604418
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1GJB6 CL E G H10804220290Deafness, autosomal recessive 1A220290C2673759OMIM12564288604418
HP:0000407HP:0008587Mild neurosensory hearing impairment1GJB6 CL E G H10804220290Deafness, autosomal recessive 1A220290C2673759OMIM12564288604418
HP:0000407HP:0008504Moderate sensorineural hearing impairment1GJB6 CL E G H10804220290Deafness, autosomal recessive 1A220290C2673759OMIM12564288604418
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1GJB6 CL E G H10804220290Deafness, autosomal recessive 1A220290C2673759OMIM12564288604418
HP:0000407HP:0011476Profound sensorineural hearing impairment1GJB6 CL E G H10804220290Deafness, autosomal recessive 1A220290C2673759OMIM12564288604418
HP:0000407HP:0000408Progressive sensorineural hearing impairment1GJB6 CL E G H10804220290Deafness, autosomal recessive 1A220290C2673759OMIM12564288604418
HP:0000407HP:0008625Severe sensorineural hearing impairment1GJB6 CL E G H10804220290Deafness, autosomal recessive 1A220290C2673759OMIM12564288604418
HP:0000407HP:0000410Mixed hearing impairment1GJC2 CL E G H57165320401ORPHA132317494608803
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1GJC2 CL E G H57165320401ORPHA132317494608803
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1GJC2 CL E G H57165320401ORPHA132317494608803
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1GJC2 CL E G H57165320401ORPHA132317494608803
HP:0000407HP:0008527Congenital sensorineural hearing impairment1GJC2 CL E G H57165320401ORPHA132317494608803
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1GJC2 CL E G H57165320401ORPHA132317494608803
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1GJC2 CL E G H57165320401ORPHA132317494608803
HP:0000407HP:0008587Mild neurosensory hearing impairment1GJC2 CL E G H57165320401ORPHA132317494608803
HP:0000407HP:0008504Moderate sensorineural hearing impairment1GJC2 CL E G H57165320401ORPHA132317494608803
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1GJC2 CL E G H57165320401ORPHA132317494608803
HP:0000407HP:0011476Profound sensorineural hearing impairment1GJC2 CL E G H57165320401ORPHA132317494608803
HP:0000407HP:0000408Progressive sensorineural hearing impairment1GJC2 CL E G H57165320401ORPHA132317494608803
HP:0000407HP:0008625Severe sensorineural hearing impairment1GJC2 CL E G H57165320401ORPHA132317494608803
HP:0000407HP:0000410Mixed hearing impairment1GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM132317494608803
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM132317494608803
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM132317494608803
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM132317494608803
HP:0000407HP:0008527Congenital sensorineural hearing impairment1GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM132317494608803
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM132317494608803
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM132317494608803
HP:0000407HP:0008587Mild neurosensory hearing impairment1GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM132317494608803
HP:0000407HP:0008504Moderate sensorineural hearing impairment1GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM132317494608803
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM132317494608803
HP:0000407HP:0011476Profound sensorineural hearing impairment1GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM132317494608803
HP:0000407HP:0000408Progressive sensorineural hearing impairment1GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM132317494608803
HP:0000407HP:0008625Severe sensorineural hearing impairment1GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM132317494608803
HP:0000407HP:0000410Mixed hearing impairment1GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM136422932615320
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM136422932615320
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM136422932615320
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM136422932615320
HP:0000407HP:0008527Congenital sensorineural hearing impairment1GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM136422932615320
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM136422932615320
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM136422932615320
HP:0000407HP:0008587Mild neurosensory hearing impairment1GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM136422932615320
HP:0000407HP:0008504Moderate sensorineural hearing impairment1GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM136422932615320
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM136422932615320
HP:0000407HP:0011476Profound sensorineural hearing impairment1GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM136422932615320
HP:0000407HP:0000408Progressive sensorineural hearing impairment1GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM136422932615320
HP:0000407HP:0008625Severe sensorineural hearing impairment1GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM136422932615320
HP:0000407HP:0000410Mixed hearing impairment1GRHL2 CL E G H79977608641Deafness, autosomal dominant 28608641C1837640OMIM12372799608576
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1GRHL2 CL E G H79977608641Deafness, autosomal dominant 28608641C1837640OMIM12372799608576
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1GRHL2 CL E G H79977608641Deafness, autosomal dominant 28608641C1837640OMIM12372799608576
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1GRHL2 CL E G H79977608641Deafness, autosomal dominant 28608641C1837640OMIM12372799608576
HP:0000407HP:0008527Congenital sensorineural hearing impairment1GRHL2 CL E G H79977608641Deafness, autosomal dominant 28608641C1837640OMIM12372799608576
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1GRHL2 CL E G H79977608641Deafness, autosomal dominant 28608641C1837640OMIM12372799608576
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1GRHL2 CL E G H79977608641Deafness, autosomal dominant 28608641C1837640OMIM12372799608576
HP:0000407HP:0008587Mild neurosensory hearing impairment1GRHL2 CL E G H79977608641Deafness, autosomal dominant 28608641C1837640OMIM12372799608576
HP:0000407HP:0008504Moderate sensorineural hearing impairment1GRHL2 CL E G H79977608641Deafness, autosomal dominant 28608641C1837640OMIM12372799608576
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1GRHL2 CL E G H79977608641Deafness, autosomal dominant 28608641C1837640OMIM12372799608576
HP:0000407HP:0011476Profound sensorineural hearing impairment1GRHL2 CL E G H79977608641Deafness, autosomal dominant 28608641C1837640OMIM12372799608576
HP:0000407HP:0000408Progressive sensorineural hearing impairment1GRHL2 CL E G H79977608641Deafness, autosomal dominant 28608641C1837640OMIM12372799608576
HP:0000407HP:0008625Severe sensorineural hearing impairment1GRHL2 CL E G H79977608641Deafness, autosomal dominant 28608641C1837640OMIM12372799608576
HP:0000407HP:0000410Mixed hearing impairment1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0000407HP:0008527Congenital sensorineural hearing impairment1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0000407HP:0008587Mild neurosensory hearing impairment1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0000407HP:0008504Moderate sensorineural hearing impairment1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0000407HP:0011476Profound sensorineural hearing impairment1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0000407HP:0000408Progressive sensorineural hearing impairment1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0000407HP:0008625Severe sensorineural hearing impairment1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0000407HP:0000410Mixed hearing impairment1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0000407HP:0008527Congenital sensorineural hearing impairment1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0000407HP:0008587Mild neurosensory hearing impairment1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0000407HP:0008504Moderate sensorineural hearing impairment1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0000407HP:0011476Profound sensorineural hearing impairment1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0000407HP:0000408Progressive sensorineural hearing impairment1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0000407HP:0008625Severe sensorineural hearing impairment1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0000407HP:0000410Mixed hearing impairment1GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12154679602275
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12154679602275
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12154679602275
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12154679602275
HP:0000407HP:0008527Congenital sensorineural hearing impairment1GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12154679602275
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12154679602275
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12154679602275
HP:0000407HP:0008587Mild neurosensory hearing impairment1GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12154679602275
HP:0000407HP:0008504Moderate sensorineural hearing impairment1GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12154679602275
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12154679602275
HP:0000407HP:0011476Profound sensorineural hearing impairment1GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12154679602275
HP:0000407HP:0000408Progressive sensorineural hearing impairment1GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12154679602275
HP:0000407HP:0008625Severe sensorineural hearing impairment1GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12154679602275
HP:0000407HP:0000410Mixed hearing impairment1GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM110484689600179
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM110484689600179
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM110484689600179
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM110484689600179
HP:0000407HP:0008527Congenital sensorineural hearing impairment1GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM110484689600179
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM110484689600179
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM110484689600179
HP:0000407HP:0008587Mild neurosensory hearing impairment1GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM110484689600179
HP:0000407HP:0008504Moderate sensorineural hearing impairment1GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM110484689600179
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM110484689600179
HP:0000407HP:0011476Profound sensorineural hearing impairment1GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM110484689600179
HP:0000407HP:0000408Progressive sensorineural hearing impairment1GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM110484689600179
HP:0000407HP:0008625Severe sensorineural hearing impairment1GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM110484689600179
HP:0000407HP:0000410Mixed hearing impairment1HACE1 CL E G H57531464282ORPHA122721033610876
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1HACE1 CL E G H57531464282ORPHA122721033610876
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1HACE1 CL E G H57531464282ORPHA122721033610876
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1HACE1 CL E G H57531464282ORPHA122721033610876
HP:0000407HP:0008527Congenital sensorineural hearing impairment1HACE1 CL E G H57531464282ORPHA122721033610876
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1HACE1 CL E G H57531464282ORPHA122721033610876
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1HACE1 CL E G H57531464282ORPHA122721033610876
HP:0000407HP:0008587Mild neurosensory hearing impairment1HACE1 CL E G H57531464282ORPHA122721033610876
HP:0000407HP:0008504Moderate sensorineural hearing impairment1HACE1 CL E G H57531464282ORPHA122721033610876
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1HACE1 CL E G H57531464282ORPHA122721033610876
HP:0000407HP:0011476Profound sensorineural hearing impairment1HACE1 CL E G H57531464282ORPHA122721033610876
HP:0000407HP:0000408Progressive sensorineural hearing impairment1HACE1 CL E G H57531464282ORPHA122721033610876
HP:0000407HP:0008625Severe sensorineural hearing impairment1HACE1 CL E G H57531464282ORPHA122721033610876
HP:0000407HP:0000410Mixed hearing impairment1HARS CL E G H3035231183ORPHA14816142810
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1HARS CL E G H3035231183ORPHA14816142810
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1HARS CL E G H3035231183ORPHA14816142810
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1HARS CL E G H3035231183ORPHA14816142810
HP:0000407HP:0008527Congenital sensorineural hearing impairment1HARS CL E G H3035231183ORPHA14816142810
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1HARS CL E G H3035231183ORPHA14816142810
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1HARS CL E G H3035231183ORPHA14816142810
HP:0000407HP:0008587Mild neurosensory hearing impairment1HARS CL E G H3035231183ORPHA14816142810
HP:0000407HP:0008504Moderate sensorineural hearing impairment1HARS CL E G H3035231183ORPHA14816142810
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1HARS CL E G H3035231183ORPHA14816142810
HP:0000407HP:0011476Profound sensorineural hearing impairment1HARS CL E G H3035231183ORPHA14816142810
HP:0000407HP:0000408Progressive sensorineural hearing impairment1HARS CL E G H3035231183ORPHA14816142810
HP:0000407HP:0008625Severe sensorineural hearing impairment1HARS CL E G H3035231183ORPHA14816142810
HP:0000407HP:0000410Mixed hearing impairment1HARS2 CL E G H23438614926Perrault syndrome 2614926C3554105OMIM11984817600783
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1HARS2 CL E G H23438614926Perrault syndrome 2614926C3554105OMIM11984817600783
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1HARS2 CL E G H23438614926Perrault syndrome 2614926C3554105OMIM11984817600783
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1HARS2 CL E G H23438614926Perrault syndrome 2614926C3554105OMIM11984817600783
HP:0000407HP:0008527Congenital sensorineural hearing impairment1HARS2 CL E G H23438614926Perrault syndrome 2614926C3554105OMIM11984817600783
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1HARS2 CL E G H23438614926Perrault syndrome 2614926C3554105OMIM11984817600783
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1HARS2 CL E G H23438614926Perrault syndrome 2614926C3554105OMIM11984817600783
HP:0000407HP:0008587Mild neurosensory hearing impairment1HARS2 CL E G H23438614926Perrault syndrome 2614926C3554105OMIM11984817600783
HP:0000407HP:0008504Moderate sensorineural hearing impairment1HARS2 CL E G H23438614926Perrault syndrome 2614926C3554105OMIM11984817600783
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1HARS2 CL E G H23438614926Perrault syndrome 2614926C3554105OMIM11984817600783
HP:0000407HP:0011476Profound sensorineural hearing impairment1HARS2 CL E G H23438614926Perrault syndrome 2614926C3554105OMIM11984817600783
HP:0000407HP:0000408Progressive sensorineural hearing impairment1HARS2 CL E G H23438614926Perrault syndrome 2614926C3554105OMIM11984817600783
HP:0000407HP:0008625Severe sensorineural hearing impairment1HARS2 CL E G H23438614926Perrault syndrome 2614926C3554105OMIM11984817600783
HP:0000407HP:0000410Mixed hearing impairment1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0000407HP:0008527Congenital sensorineural hearing impairment1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0000407HP:0008587Mild neurosensory hearing impairment1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0000407HP:0008504Moderate sensorineural hearing impairment1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0000407HP:0011476Profound sensorineural hearing impairment1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0000407HP:0000408Progressive sensorineural hearing impairment1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0000407HP:0008625Severe sensorineural hearing impairment1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0000407HP:0000410Mixed hearing impairment1HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1104926527610453
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1104926527610453
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1104926527610453
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1104926527610453
HP:0000407HP:0008527Congenital sensorineural hearing impairment1HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1104926527610453
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1104926527610453
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1104926527610453
HP:0000407HP:0008587Mild neurosensory hearing impairment1HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1104926527610453
HP:0000407HP:0008504Moderate sensorineural hearing impairment1HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1104926527610453
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1104926527610453
HP:0000407HP:0011476Profound sensorineural hearing impairment1HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1104926527610453
HP:0000407HP:0000408Progressive sensorineural hearing impairment1HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1104926527610453
HP:0000407HP:0008625Severe sensorineural hearing impairment1HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1104926527610453
HP:0000407HP:0000410Mixed hearing impairment1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11435099142955
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11435099142955
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11435099142955
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11435099142955
HP:0000407HP:0008527Congenital sensorineural hearing impairment1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11435099142955
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11435099142955
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11435099142955
HP:0000407HP:0008587Mild neurosensory hearing impairment1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11435099142955
HP:0000407HP:0008504Moderate sensorineural hearing impairment1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11435099142955
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11435099142955
HP:0000407HP:0011476Profound sensorineural hearing impairment1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11435099142955
HP:0000407HP:0000408Progressive sensorineural hearing impairment1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11435099142955
HP:0000407HP:0008625Severe sensorineural hearing impairment1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11435099142955
HP:0000407HP:0000410Mixed hearing impairment1HOXA11 CL E G H3207605432Radioulnar synostosis with amegakaryocytic thrombocytopenia605432C1854273OMIM1715101142958
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1HOXA11 CL E G H3207605432Radioulnar synostosis with amegakaryocytic thrombocytopenia605432C1854273OMIM1715101142958
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1HOXA11 CL E G H3207605432Radioulnar synostosis with amegakaryocytic thrombocytopenia605432C1854273OMIM1715101142958
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1HOXA11 CL E G H3207605432Radioulnar synostosis with amegakaryocytic thrombocytopenia605432C1854273OMIM1715101142958
HP:0000407HP:0008527Congenital sensorineural hearing impairment1HOXA11 CL E G H3207605432Radioulnar synostosis with amegakaryocytic thrombocytopenia605432C1854273OMIM1715101142958
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1HOXA11 CL E G H3207605432Radioulnar synostosis with amegakaryocytic thrombocytopenia605432C1854273OMIM1715101142958
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1HOXA11 CL E G H3207605432Radioulnar synostosis with amegakaryocytic thrombocytopenia605432C1854273OMIM1715101142958
HP:0000407HP:0008587Mild neurosensory hearing impairment1HOXA11 CL E G H3207605432Radioulnar synostosis with amegakaryocytic thrombocytopenia605432C1854273OMIM1715101142958
HP:0000407HP:0008504Moderate sensorineural hearing impairment1HOXA11 CL E G H3207605432Radioulnar synostosis with amegakaryocytic thrombocytopenia605432C1854273OMIM1715101142958
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1HOXA11 CL E G H3207605432Radioulnar synostosis with amegakaryocytic thrombocytopenia605432C1854273OMIM1715101142958
HP:0000407HP:0011476Profound sensorineural hearing impairment1HOXA11 CL E G H3207605432Radioulnar synostosis with amegakaryocytic thrombocytopenia605432C1854273OMIM1715101142958
HP:0000407HP:0000408Progressive sensorineural hearing impairment1HOXA11 CL E G H3207605432Radioulnar synostosis with amegakaryocytic thrombocytopenia605432C1854273OMIM1715101142958
HP:0000407HP:0008625Severe sensorineural hearing impairment1HOXA11 CL E G H3207605432Radioulnar synostosis with amegakaryocytic thrombocytopenia605432C1854273OMIM1715101142958
HP:0000407HP:0000410Mixed hearing impairment1HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1445111142968
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1445111142968
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1445111142968
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1445111142968
HP:0000407HP:0008527Congenital sensorineural hearing impairment1HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1445111142968
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1445111142968
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1445111142968
HP:0000407HP:0008587Mild neurosensory hearing impairment1HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1445111142968
HP:0000407HP:0008504Moderate sensorineural hearing impairment1HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1445111142968
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1445111142968
HP:0000407HP:0011476Profound sensorineural hearing impairment1HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1445111142968
HP:0000407HP:0000408Progressive sensorineural hearing impairment1HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1445111142968
HP:0000407HP:0008625Severe sensorineural hearing impairment1HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1445111142968
HP:0000407HP:0000410Mixed hearing impairment1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0000407HP:0008527Congenital sensorineural hearing impairment1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0000407HP:0008587Mild neurosensory hearing impairment1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0000407HP:0008504Moderate sensorineural hearing impairment1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0000407HP:0011476Profound sensorineural hearing impairment1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0000407HP:0000408Progressive sensorineural hearing impairment1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0000407HP:0008625Severe sensorineural hearing impairment1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0000407HP:0000410Mixed hearing impairment1HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM19835213601860
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM19835213601860
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM19835213601860
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM19835213601860
HP:0000407HP:0008527Congenital sensorineural hearing impairment1HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM19835213601860
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM19835213601860
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM19835213601860
HP:0000407HP:0008587Mild neurosensory hearing impairment1HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM19835213601860
HP:0000407HP:0008504Moderate sensorineural hearing impairment1HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM19835213601860
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM19835213601860
HP:0000407HP:0011476Profound sensorineural hearing impairment1HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM19835213601860
HP:0000407HP:0000408Progressive sensorineural hearing impairment1HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM19835213601860
HP:0000407HP:0008625Severe sensorineural hearing impairment1HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM19835213601860
HP:0000407HP:0000410Mixed hearing impairment1IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM146429685612801
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM146429685612801
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM146429685612801
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM146429685612801
HP:0000407HP:0008527Congenital sensorineural hearing impairment1IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM146429685612801
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM146429685612801
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM146429685612801
HP:0000407HP:0008587Mild neurosensory hearing impairment1IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM146429685612801
HP:0000407HP:0008504Moderate sensorineural hearing impairment1IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM146429685612801
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM146429685612801
HP:0000407HP:0011476Profound sensorineural hearing impairment1IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM146429685612801
HP:0000407HP:0000408Progressive sensorineural hearing impairment1IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM146429685612801
HP:0000407HP:0008625Severe sensorineural hearing impairment1IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM146429685612801
HP:0000407HP:0000410Mixed hearing impairment1IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12995385604526
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12995385604526
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12995385604526
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12995385604526
HP:0000407HP:0008527Congenital sensorineural hearing impairment1IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12995385604526
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12995385604526
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12995385604526
HP:0000407HP:0008587Mild neurosensory hearing impairment1IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12995385604526
HP:0000407HP:0008504Moderate sensorineural hearing impairment1IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12995385604526
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12995385604526
HP:0000407HP:0011476Profound sensorineural hearing impairment1IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12995385604526
HP:0000407HP:0000408Progressive sensorineural hearing impairment1IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12995385604526
HP:0000407HP:0008625Severe sensorineural hearing impairment1IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12995385604526
HP:0000407HP:0000410Mixed hearing impairment1IDUA CL E G H342593476ORPHA117885391252800
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1IDUA CL E G H342593476ORPHA117885391252800
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1IDUA CL E G H342593476ORPHA117885391252800
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1IDUA CL E G H342593476ORPHA117885391252800
HP:0000407HP:0008527Congenital sensorineural hearing impairment1IDUA CL E G H342593476ORPHA117885391252800
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1IDUA CL E G H342593476ORPHA117885391252800
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1IDUA CL E G H342593476ORPHA117885391252800
HP:0000407HP:0008587Mild neurosensory hearing impairment1IDUA CL E G H342593476ORPHA117885391252800
HP:0000407HP:0008504Moderate sensorineural hearing impairment1IDUA CL E G H342593476ORPHA117885391252800
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1IDUA CL E G H342593476ORPHA117885391252800
HP:0000407HP:0011476Profound sensorineural hearing impairment1IDUA CL E G H342593476ORPHA117885391252800
HP:0000407HP:0000408Progressive sensorineural hearing impairment1IDUA CL E G H342593476ORPHA117885391252800
HP:0000407HP:0008625Severe sensorineural hearing impairment1IDUA CL E G H342593476ORPHA117885391252800
HP:0000407HP:0000410Mixed hearing impairment1IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1168629077614620
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1168629077614620
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1168629077614620
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1168629077614620
HP:0000407HP:0008527Congenital sensorineural hearing impairment1IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1168629077614620
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1168629077614620
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1168629077614620
HP:0000407HP:0008587Mild neurosensory hearing impairment1IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1168629077614620
HP:0000407HP:0008504Moderate sensorineural hearing impairment1IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1168629077614620
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1168629077614620
HP:0000407HP:0011476Profound sensorineural hearing impairment1IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1168629077614620
HP:0000407HP:0000408Progressive sensorineural hearing impairment1IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1168629077614620
HP:0000407HP:0008625Severe sensorineural hearing impairment1IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1168629077614620
HP:0000407HP:0000410Mixed hearing impairment1IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1135630391607386
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1135630391607386
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1135630391607386
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1135630391607386
HP:0000407HP:0008527Congenital sensorineural hearing impairment1IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1135630391607386
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1135630391607386
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1135630391607386
HP:0000407HP:0008587Mild neurosensory hearing impairment1IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1135630391607386
HP:0000407HP:0008504Moderate sensorineural hearing impairment1IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1135630391607386
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1135630391607386
HP:0000407HP:0011476Profound sensorineural hearing impairment1IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1135630391607386
HP:0000407HP:0000408Progressive sensorineural hearing impairment1IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1135630391607386
HP:0000407HP:0008625Severe sensorineural hearing impairment1IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1135630391607386
HP:0000407HP:0000410Mixed hearing impairment1IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA139020606600595
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA139020606600595
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA139020606600595
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA139020606600595
HP:0000407HP:0008527Congenital sensorineural hearing impairment1IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA139020606600595
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA139020606600595
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA139020606600595
HP:0000407HP:0008587Mild neurosensory hearing impairment1IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA139020606600595
HP:0000407HP:0008504Moderate sensorineural hearing impairment1IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA139020606600595
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA139020606600595
HP:0000407HP:0011476Profound sensorineural hearing impairment1IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA139020606600595
HP:0000407HP:0000408Progressive sensorineural hearing impairment1IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA139020606600595
HP:0000407HP:0008625Severe sensorineural hearing impairment1IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA139020606600595
HP:0000407HP:0000410Mixed hearing impairment1IGBP1 CL E G H347652055ORPHA11625461300139
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1IGBP1 CL E G H347652055ORPHA11625461300139
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1IGBP1 CL E G H347652055ORPHA11625461300139
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1IGBP1 CL E G H347652055ORPHA11625461300139
HP:0000407HP:0008527Congenital sensorineural hearing impairment1IGBP1 CL E G H347652055ORPHA11625461300139
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1IGBP1 CL E G H347652055ORPHA11625461300139
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1IGBP1 CL E G H347652055ORPHA11625461300139
HP:0000407HP:0008587Mild neurosensory hearing impairment1IGBP1 CL E G H347652055ORPHA11625461300139
HP:0000407HP:0008504Moderate sensorineural hearing impairment1IGBP1 CL E G H347652055ORPHA11625461300139
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1IGBP1 CL E G H347652055ORPHA11625461300139
HP:0000407HP:0011476Profound sensorineural hearing impairment1IGBP1 CL E G H347652055ORPHA11625461300139
HP:0000407HP:0000408Progressive sensorineural hearing impairment1IGBP1 CL E G H347652055ORPHA11625461300139
HP:0000407HP:0008625Severe sensorineural hearing impairment1IGBP1 CL E G H347652055ORPHA11625461300139
HP:0000407HP:0000410Mixed hearing impairment1IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM11625461300139
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM11625461300139
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM11625461300139
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM11625461300139
HP:0000407HP:0008527Congenital sensorineural hearing impairment1IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM11625461300139
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM11625461300139
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM11625461300139
HP:0000407HP:0008587Mild neurosensory hearing impairment1IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM11625461300139
HP:0000407HP:0008504Moderate sensorineural hearing impairment1IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM11625461300139
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM11625461300139
HP:0000407HP:0011476Profound sensorineural hearing impairment1IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM11625461300139
HP:0000407HP:0000408Progressive sensorineural hearing impairment1IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM11625461300139
HP:0000407HP:0008625Severe sensorineural hearing impairment1IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM11625461300139
HP:0000407HP:0000410Mixed hearing impairment1IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM11975464147440
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM11975464147440
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM11975464147440
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM11975464147440
HP:0000407HP:0008527Congenital sensorineural hearing impairment1IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM11975464147440
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM11975464147440
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM11975464147440
HP:0000407HP:0008587Mild neurosensory hearing impairment1IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM11975464147440
HP:0000407HP:0008504Moderate sensorineural hearing impairment1IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM11975464147440
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM11975464147440
HP:0000407HP:0011476Profound sensorineural hearing impairment1IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM11975464147440
HP:0000407HP:0000408Progressive sensorineural hearing impairment1IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM11975464147440
HP:0000407HP:0008625Severe sensorineural hearing impairment1IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM11975464147440
HP:0000407HP:0000410Mixed hearing impairment1ILDR1 CL E G H286676609646Deafness, autosomal recessive 42609646C1864818OMIM123728741609739
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ILDR1 CL E G H286676609646Deafness, autosomal recessive 42609646C1864818OMIM123728741609739
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ILDR1 CL E G H286676609646Deafness, autosomal recessive 42609646C1864818OMIM123728741609739
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ILDR1 CL E G H286676609646Deafness, autosomal recessive 42609646C1864818OMIM123728741609739
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ILDR1 CL E G H286676609646Deafness, autosomal recessive 42609646C1864818OMIM123728741609739
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ILDR1 CL E G H286676609646Deafness, autosomal recessive 42609646C1864818OMIM123728741609739
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ILDR1 CL E G H286676609646Deafness, autosomal recessive 42609646C1864818OMIM123728741609739
HP:0000407HP:0008587Mild neurosensory hearing impairment1ILDR1 CL E G H286676609646Deafness, autosomal recessive 42609646C1864818OMIM123728741609739
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ILDR1 CL E G H286676609646Deafness, autosomal recessive 42609646C1864818OMIM123728741609739
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ILDR1 CL E G H286676609646Deafness, autosomal recessive 42609646C1864818OMIM123728741609739
HP:0000407HP:0011476Profound sensorineural hearing impairment1ILDR1 CL E G H286676609646Deafness, autosomal recessive 42609646C1864818OMIM123728741609739
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ILDR1 CL E G H286676609646Deafness, autosomal recessive 42609646C1864818OMIM123728741609739
HP:0000407HP:0008625Severe sensorineural hearing impairment1ILDR1 CL E G H286676609646Deafness, autosomal recessive 42609646C1864818OMIM123728741609739
HP:0000407HP:0000410Mixed hearing impairment1IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15426052146690
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15426052146690
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15426052146690
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15426052146690
HP:0000407HP:0008527Congenital sensorineural hearing impairment1IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15426052146690
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15426052146690
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15426052146690
HP:0000407HP:0008587Mild neurosensory hearing impairment1IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15426052146690
HP:0000407HP:0008504Moderate sensorineural hearing impairment1IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15426052146690
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15426052146690
HP:0000407HP:0011476Profound sensorineural hearing impairment1IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15426052146690
HP:0000407HP:0000408Progressive sensorineural hearing impairment1IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15426052146690
HP:0000407HP:0008625Severe sensorineural hearing impairment1IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15426052146690
HP:0000407HP:0000410Mixed hearing impairment1IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA190918362607056
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA190918362607056
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA190918362607056
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA190918362607056
HP:0000407HP:0008527Congenital sensorineural hearing impairment1IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA190918362607056
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA190918362607056
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA190918362607056
HP:0000407HP:0008587Mild neurosensory hearing impairment1IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA190918362607056
HP:0000407HP:0008504Moderate sensorineural hearing impairment1IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA190918362607056
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA190918362607056
HP:0000407HP:0011476Profound sensorineural hearing impairment1IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA190918362607056
HP:0000407HP:0000408Progressive sensorineural hearing impairment1IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA190918362607056
HP:0000407HP:0008625Severe sensorineural hearing impairment1IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA190918362607056
HP:0000407HP:0000410Mixed hearing impairment1IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM110414361606195
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM110414361606195
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM110414361606195
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM110414361606195
HP:0000407HP:0008527Congenital sensorineural hearing impairment1IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM110414361606195
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM110414361606195
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM110414361606195
HP:0000407HP:0008587Mild neurosensory hearing impairment1IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM110414361606195
HP:0000407HP:0008504Moderate sensorineural hearing impairment1IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM110414361606195
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM110414361606195
HP:0000407HP:0011476Profound sensorineural hearing impairment1IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM110414361606195
HP:0000407HP:0000408Progressive sensorineural hearing impairment1IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM110414361606195
HP:0000407HP:0008625Severe sensorineural hearing impairment1IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM110414361606195
HP:0000407HP:0000410Mixed hearing impairment1KCNJ10 CL E G H3766705ORPHA13816256602208
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1KCNJ10 CL E G H3766705ORPHA13816256602208
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1KCNJ10 CL E G H3766705ORPHA13816256602208
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1KCNJ10 CL E G H3766705ORPHA13816256602208
HP:0000407HP:0008527Congenital sensorineural hearing impairment1KCNJ10 CL E G H3766705ORPHA13816256602208
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1KCNJ10 CL E G H3766705ORPHA13816256602208
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1KCNJ10 CL E G H3766705ORPHA13816256602208
HP:0000407HP:0008587Mild neurosensory hearing impairment1KCNJ10 CL E G H3766705ORPHA13816256602208
HP:0000407HP:0008504Moderate sensorineural hearing impairment1KCNJ10 CL E G H3766705ORPHA13816256602208
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1KCNJ10 CL E G H3766705ORPHA13816256602208
HP:0000407HP:0011476Profound sensorineural hearing impairment1KCNJ10 CL E G H3766705ORPHA13816256602208
HP:0000407HP:0000408Progressive sensorineural hearing impairment1KCNJ10 CL E G H3766705ORPHA13816256602208
HP:0000407HP:0008625Severe sensorineural hearing impairment1KCNJ10 CL E G H3766705ORPHA13816256602208
HP:0000407HP:0000410Mixed hearing impairment1KCNJ10 CL E G H3766199343ORPHA13816256602208
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1KCNJ10 CL E G H3766199343ORPHA13816256602208
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1KCNJ10 CL E G H3766199343ORPHA13816256602208
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1KCNJ10 CL E G H3766199343ORPHA13816256602208
HP:0000407HP:0008527Congenital sensorineural hearing impairment1KCNJ10 CL E G H3766199343ORPHA13816256602208
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1KCNJ10 CL E G H3766199343ORPHA13816256602208
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1KCNJ10 CL E G H3766199343ORPHA13816256602208
HP:0000407HP:0008587Mild neurosensory hearing impairment1KCNJ10 CL E G H3766199343ORPHA13816256602208
HP:0000407HP:0008504Moderate sensorineural hearing impairment1KCNJ10 CL E G H3766199343ORPHA13816256602208
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1KCNJ10 CL E G H3766199343ORPHA13816256602208
HP:0000407HP:0011476Profound sensorineural hearing impairment1KCNJ10 CL E G H3766199343ORPHA13816256602208
HP:0000407HP:0000408Progressive sensorineural hearing impairment1KCNJ10 CL E G H3766199343ORPHA13816256602208
HP:0000407HP:0008625Severe sensorineural hearing impairment1KCNJ10 CL E G H3766199343ORPHA13816256602208
HP:0000407HP:0000410Mixed hearing impairment1KCNJ10 CL E G H3766600791Enlarged vestibular aqueduct600791C1863752OMIM13816256602208
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1KCNJ10 CL E G H3766600791Enlarged vestibular aqueduct600791C1863752OMIM13816256602208
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1KCNJ10 CL E G H3766600791Enlarged vestibular aqueduct600791C1863752OMIM13816256602208
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1KCNJ10 CL E G H3766600791Enlarged vestibular aqueduct600791C1863752OMIM13816256602208
HP:0000407HP:0008527Congenital sensorineural hearing impairment1KCNJ10 CL E G H3766600791Enlarged vestibular aqueduct600791C1863752OMIM13816256602208
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1KCNJ10 CL E G H3766600791Enlarged vestibular aqueduct600791C1863752OMIM13816256602208
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1KCNJ10 CL E G H3766600791Enlarged vestibular aqueduct600791C1863752OMIM13816256602208
HP:0000407HP:0008587Mild neurosensory hearing impairment1KCNJ10 CL E G H3766600791Enlarged vestibular aqueduct600791C1863752OMIM13816256602208
HP:0000407HP:0008504Moderate sensorineural hearing impairment1KCNJ10 CL E G H3766600791Enlarged vestibular aqueduct600791C1863752OMIM13816256602208
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1KCNJ10 CL E G H3766600791Enlarged vestibular aqueduct600791C1863752OMIM13816256602208
HP:0000407HP:0011476Profound sensorineural hearing impairment1KCNJ10 CL E G H3766600791Enlarged vestibular aqueduct600791C1863752OMIM13816256602208
HP:0000407HP:0000408Progressive sensorineural hearing impairment1KCNJ10 CL E G H3766600791Enlarged vestibular aqueduct600791C1863752OMIM13816256602208
HP:0000407HP:0008625Severe sensorineural hearing impairment1KCNJ10 CL E G H3766600791Enlarged vestibular aqueduct600791C1863752OMIM13816256602208
HP:0000407HP:0000410Mixed hearing impairment1KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0000407HP:0008527Congenital sensorineural hearing impairment1KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0000407HP:0008587Mild neurosensory hearing impairment1KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0000407HP:0008504Moderate sensorineural hearing impairment1KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0000407HP:0011476Profound sensorineural hearing impairment1KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0000407HP:0000408Progressive sensorineural hearing impairment1KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0000407HP:0008625Severe sensorineural hearing impairment1KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0000407HP:0000410Mixed hearing impairment1KDM6A CL E G H74032322ORPHA191612637300128
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1KDM6A CL E G H74032322ORPHA191612637300128
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1KDM6A CL E G H74032322ORPHA191612637300128
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1KDM6A CL E G H74032322ORPHA191612637300128
HP:0000407HP:0008527Congenital sensorineural hearing impairment1KDM6A CL E G H74032322ORPHA191612637300128
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1KDM6A CL E G H74032322ORPHA191612637300128
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1KDM6A CL E G H74032322ORPHA191612637300128
HP:0000407HP:0008587Mild neurosensory hearing impairment1KDM6A CL E G H74032322ORPHA191612637300128
HP:0000407HP:0008504Moderate sensorineural hearing impairment1KDM6A CL E G H74032322ORPHA191612637300128
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1KDM6A CL E G H74032322ORPHA191612637300128
HP:0000407HP:0011476Profound sensorineural hearing impairment1KDM6A CL E G H74032322ORPHA191612637300128
HP:0000407HP:0000408Progressive sensorineural hearing impairment1KDM6A CL E G H74032322ORPHA191612637300128
HP:0000407HP:0008625Severe sensorineural hearing impairment1KDM6A CL E G H74032322ORPHA191612637300128
HP:0000407HP:0000410Mixed hearing impairment1KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1132722219613344
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1132722219613344
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1132722219613344
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1132722219613344
HP:0000407HP:0008527Congenital sensorineural hearing impairment1KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1132722219613344
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1132722219613344
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1132722219613344
HP:0000407HP:0008587Mild neurosensory hearing impairment1KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1132722219613344
HP:0000407HP:0008504Moderate sensorineural hearing impairment1KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1132722219613344
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1132722219613344
HP:0000407HP:0011476Profound sensorineural hearing impairment1KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1132722219613344
HP:0000407HP:0000408Progressive sensorineural hearing impairment1KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1132722219613344
HP:0000407HP:0008625Severe sensorineural hearing impairment1KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1132722219613344
HP:0000407HP:0000410Mixed hearing impairment1KITLG CL E G H4254895ORPHA11006343184745
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1KITLG CL E G H4254895ORPHA11006343184745
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1KITLG CL E G H4254895ORPHA11006343184745
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1KITLG CL E G H4254895ORPHA11006343184745
HP:0000407HP:0008527Congenital sensorineural hearing impairment1KITLG CL E G H4254895ORPHA11006343184745
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1KITLG CL E G H4254895ORPHA11006343184745
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1KITLG CL E G H4254895ORPHA11006343184745
HP:0000407HP:0008587Mild neurosensory hearing impairment1KITLG CL E G H4254895ORPHA11006343184745
HP:0000407HP:0008504Moderate sensorineural hearing impairment1KITLG CL E G H4254895ORPHA11006343184745
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1KITLG CL E G H4254895ORPHA11006343184745
HP:0000407HP:0011476Profound sensorineural hearing impairment1KITLG CL E G H4254895ORPHA11006343184745
HP:0000407HP:0000408Progressive sensorineural hearing impairment1KITLG CL E G H4254895ORPHA11006343184745
HP:0000407HP:0008625Severe sensorineural hearing impairment1KITLG CL E G H4254895ORPHA11006343184745
HP:0000407HP:0000410Mixed hearing impairment1KITLG CL E G H4254616697Deafness, autosomal dominant 69616697C4225241OMIM11006343184745
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1KITLG CL E G H4254616697Deafness, autosomal dominant 69616697C4225241OMIM11006343184745
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1KITLG CL E G H4254616697Deafness, autosomal dominant 69616697C4225241OMIM11006343184745
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1KITLG CL E G H4254616697Deafness, autosomal dominant 69616697C4225241OMIM11006343184745
HP:0000407HP:0008527Congenital sensorineural hearing impairment1KITLG CL E G H4254616697Deafness, autosomal dominant 69616697C4225241OMIM11006343184745
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1KITLG CL E G H4254616697Deafness, autosomal dominant 69616697C4225241OMIM11006343184745
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1KITLG CL E G H4254616697Deafness, autosomal dominant 69616697C4225241OMIM11006343184745
HP:0000407HP:0008587Mild neurosensory hearing impairment1KITLG CL E G H4254616697Deafness, autosomal dominant 69616697C4225241OMIM11006343184745
HP:0000407HP:0008504Moderate sensorineural hearing impairment1KITLG CL E G H4254616697Deafness, autosomal dominant 69616697C4225241OMIM11006343184745
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1KITLG CL E G H4254616697Deafness, autosomal dominant 69616697C4225241OMIM11006343184745
HP:0000407HP:0011476Profound sensorineural hearing impairment1KITLG CL E G H4254616697Deafness, autosomal dominant 69616697C4225241OMIM11006343184745
HP:0000407HP:0000408Progressive sensorineural hearing impairment1KITLG CL E G H4254616697Deafness, autosomal dominant 69616697C4225241OMIM11006343184745
HP:0000407HP:0008625Severe sensorineural hearing impairment1KITLG CL E G H4254616697Deafness, autosomal dominant 69616697C4225241OMIM11006343184745
HP:0000407HP:0000410Mixed hearing impairment1KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141615865615757
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141615865615757
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141615865615757
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141615865615757
HP:0000407HP:0008527Congenital sensorineural hearing impairment1KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141615865615757
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141615865615757
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141615865615757
HP:0000407HP:0008587Mild neurosensory hearing impairment1KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141615865615757
HP:0000407HP:0008504Moderate sensorineural hearing impairment1KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141615865615757
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141615865615757
HP:0000407HP:0011476Profound sensorineural hearing impairment1KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141615865615757
HP:0000407HP:0000408Progressive sensorineural hearing impairment1KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141615865615757
HP:0000407HP:0008625Severe sensorineural hearing impairment1KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141615865615757
HP:0000407HP:0000410Mixed hearing impairment1KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA133715646611119
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA133715646611119
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA133715646611119
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA133715646611119
HP:0000407HP:0008527Congenital sensorineural hearing impairment1KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA133715646611119
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA133715646611119
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA133715646611119
HP:0000407HP:0008587Mild neurosensory hearing impairment1KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA133715646611119
HP:0000407HP:0008504Moderate sensorineural hearing impairment1KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA133715646611119
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA133715646611119
HP:0000407HP:0011476Profound sensorineural hearing impairment1KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA133715646611119
HP:0000407HP:0000408Progressive sensorineural hearing impairment1KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA133715646611119
HP:0000407HP:0008625Severe sensorineural hearing impairment1KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA133715646611119
HP:0000407HP:0000410Mixed hearing impairment1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0000407HP:0008527Congenital sensorineural hearing impairment1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0000407HP:0008587Mild neurosensory hearing impairment1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0000407HP:0008504Moderate sensorineural hearing impairment1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0000407HP:0011476Profound sensorineural hearing impairment1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0000407HP:0000408Progressive sensorineural hearing impairment1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0000407HP:0008625Severe sensorineural hearing impairment1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0000407HP:0000410Mixed hearing impairment1KMT2D CL E G H80852322ORPHA143237133602113
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1KMT2D CL E G H80852322ORPHA143237133602113
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1KMT2D CL E G H80852322ORPHA143237133602113
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1KMT2D CL E G H80852322ORPHA143237133602113
HP:0000407HP:0008527Congenital sensorineural hearing impairment1KMT2D CL E G H80852322ORPHA143237133602113
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1KMT2D CL E G H80852322ORPHA143237133602113
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1KMT2D CL E G H80852322ORPHA143237133602113
HP:0000407HP:0008587Mild neurosensory hearing impairment1KMT2D CL E G H80852322ORPHA143237133602113
HP:0000407HP:0008504Moderate sensorineural hearing impairment1KMT2D CL E G H80852322ORPHA143237133602113
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1KMT2D CL E G H80852322ORPHA143237133602113
HP:0000407HP:0011476Profound sensorineural hearing impairment1KMT2D CL E G H80852322ORPHA143237133602113
HP:0000407HP:0000408Progressive sensorineural hearing impairment1KMT2D CL E G H80852322ORPHA143237133602113
HP:0000407HP:0008625Severe sensorineural hearing impairment1KMT2D CL E G H80852322ORPHA143237133602113
HP:0000407HP:0000410Mixed hearing impairment1LHX3 CL E G H8022231720ORPHA14806595600577
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1LHX3 CL E G H8022231720ORPHA14806595600577
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1LHX3 CL E G H8022231720ORPHA14806595600577
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1LHX3 CL E G H8022231720ORPHA14806595600577
HP:0000407HP:0008527Congenital sensorineural hearing impairment1LHX3 CL E G H8022231720ORPHA14806595600577
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1LHX3 CL E G H8022231720ORPHA14806595600577
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1LHX3 CL E G H8022231720ORPHA14806595600577
HP:0000407HP:0008587Mild neurosensory hearing impairment1LHX3 CL E G H8022231720ORPHA14806595600577
HP:0000407HP:0008504Moderate sensorineural hearing impairment1LHX3 CL E G H8022231720ORPHA14806595600577
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1LHX3 CL E G H8022231720ORPHA14806595600577
HP:0000407HP:0011476Profound sensorineural hearing impairment1LHX3 CL E G H8022231720ORPHA14806595600577
HP:0000407HP:0000408Progressive sensorineural hearing impairment1LHX3 CL E G H8022231720ORPHA14806595600577
HP:0000407HP:0008625Severe sensorineural hearing impairment1LHX3 CL E G H8022231720ORPHA14806595600577
HP:0000407HP:0000410Mixed hearing impairment1LHX3 CL E G H8022221750Pituitary hormone deficiency, combined 3221750C3489787OMIM14806595600577
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1LHX3 CL E G H8022221750Pituitary hormone deficiency, combined 3221750C3489787OMIM14806595600577
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1LHX3 CL E G H8022221750Pituitary hormone deficiency, combined 3221750C3489787OMIM14806595600577
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1LHX3 CL E G H8022221750Pituitary hormone deficiency, combined 3221750C3489787OMIM14806595600577
HP:0000407HP:0008527Congenital sensorineural hearing impairment1LHX3 CL E G H8022221750Pituitary hormone deficiency, combined 3221750C3489787OMIM14806595600577
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1LHX3 CL E G H8022221750Pituitary hormone deficiency, combined 3221750C3489787OMIM14806595600577
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1LHX3 CL E G H8022221750Pituitary hormone deficiency, combined 3221750C3489787OMIM14806595600577
HP:0000407HP:0008587Mild neurosensory hearing impairment1LHX3 CL E G H8022221750Pituitary hormone deficiency, combined 3221750C3489787OMIM14806595600577
HP:0000407HP:0008504Moderate sensorineural hearing impairment1LHX3 CL E G H8022221750Pituitary hormone deficiency, combined 3221750C3489787OMIM14806595600577
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1LHX3 CL E G H8022221750Pituitary hormone deficiency, combined 3221750C3489787OMIM14806595600577
HP:0000407HP:0011476Profound sensorineural hearing impairment1LHX3 CL E G H8022221750Pituitary hormone deficiency, combined 3221750C3489787OMIM14806595600577
HP:0000407HP:0000408Progressive sensorineural hearing impairment1LHX3 CL E G H8022221750Pituitary hormone deficiency, combined 3221750C3489787OMIM14806595600577
HP:0000407HP:0008625Severe sensorineural hearing impairment1LHX3 CL E G H8022221750Pituitary hormone deficiency, combined 3221750C3489787OMIM14806595600577
HP:0000407HP:0000410Mixed hearing impairment1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0000407HP:0008527Congenital sensorineural hearing impairment1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0000407HP:0008587Mild neurosensory hearing impairment1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0000407HP:0008504Moderate sensorineural hearing impairment1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0000407HP:0011476Profound sensorineural hearing impairment1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0000407HP:0000408Progressive sensorineural hearing impairment1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0000407HP:0008625Severe sensorineural hearing impairment1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0000407HP:0000410Mixed hearing impairment1LMNA CL E G H4000740Aortic arch interruptionORPHA118146636150330
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1LMNA CL E G H4000740Aortic arch interruptionORPHA118146636150330
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1LMNA CL E G H4000740Aortic arch interruptionORPHA118146636150330
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1LMNA CL E G H4000740Aortic arch interruptionORPHA118146636150330
HP:0000407HP:0008527Congenital sensorineural hearing impairment1LMNA CL E G H4000740Aortic arch interruptionORPHA118146636150330
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1LMNA CL E G H4000740Aortic arch interruptionORPHA118146636150330
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1LMNA CL E G H4000740Aortic arch interruptionORPHA118146636150330
HP:0000407HP:0008587Mild neurosensory hearing impairment1LMNA CL E G H4000740Aortic arch interruptionORPHA118146636150330
HP:0000407HP:0008504Moderate sensorineural hearing impairment1LMNA CL E G H4000740Aortic arch interruptionORPHA118146636150330
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1LMNA CL E G H4000740Aortic arch interruptionORPHA118146636150330
HP:0000407HP:0011476Profound sensorineural hearing impairment1LMNA CL E G H4000740Aortic arch interruptionORPHA118146636150330
HP:0000407HP:0000408Progressive sensorineural hearing impairment1LMNA CL E G H4000740Aortic arch interruptionORPHA118146636150330
HP:0000407HP:0008625Severe sensorineural hearing impairment1LMNA CL E G H4000740Aortic arch interruptionORPHA118146636150330
HP:0000407HP:0000410Mixed hearing impairment1LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM15506654602575
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM15506654602575
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM15506654602575
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM15506654602575
HP:0000407HP:0008527Congenital sensorineural hearing impairment1LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM15506654602575
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM15506654602575
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM15506654602575
HP:0000407HP:0008587Mild neurosensory hearing impairment1LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM15506654602575
HP:0000407HP:0008504Moderate sensorineural hearing impairment1LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM15506654602575
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM15506654602575
HP:0000407HP:0011476Profound sensorineural hearing impairment1LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM15506654602575
HP:0000407HP:0000408Progressive sensorineural hearing impairment1LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM15506654602575
HP:0000407HP:0008625Severe sensorineural hearing impairment1LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM15506654602575
HP:0000407HP:0000410Mixed hearing impairment1LONP1 CL E G H93611458ORPHA17499479605490
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1LONP1 CL E G H93611458ORPHA17499479605490
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1LONP1 CL E G H93611458ORPHA17499479605490
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1LONP1 CL E G H93611458ORPHA17499479605490
HP:0000407HP:0008527Congenital sensorineural hearing impairment1LONP1 CL E G H93611458ORPHA17499479605490
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1LONP1 CL E G H93611458ORPHA17499479605490
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1LONP1 CL E G H93611458ORPHA17499479605490
HP:0000407HP:0008587Mild neurosensory hearing impairment1LONP1 CL E G H93611458ORPHA17499479605490
HP:0000407HP:0008504Moderate sensorineural hearing impairment1LONP1 CL E G H93611458ORPHA17499479605490
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1LONP1 CL E G H93611458ORPHA17499479605490
HP:0000407HP:0011476Profound sensorineural hearing impairment1LONP1 CL E G H93611458ORPHA17499479605490
HP:0000407HP:0000408Progressive sensorineural hearing impairment1LONP1 CL E G H93611458ORPHA17499479605490
HP:0000407HP:0008625Severe sensorineural hearing impairment1LONP1 CL E G H93611458ORPHA17499479605490
HP:0000407HP:0000410Mixed hearing impairment1LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12426685604863
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12426685604863
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12426685604863
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12426685604863
HP:0000407HP:0008527Congenital sensorineural hearing impairment1LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12426685604863
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12426685604863
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12426685604863
HP:0000407HP:0008587Mild neurosensory hearing impairment1LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12426685604863
HP:0000407HP:0008504Moderate sensorineural hearing impairment1LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12426685604863
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12426685604863
HP:0000407HP:0011476Profound sensorineural hearing impairment1LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12426685604863
HP:0000407HP:0000408Progressive sensorineural hearing impairment1LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12426685604863
HP:0000407HP:0008625Severe sensorineural hearing impairment1LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12426685604863
HP:0000407HP:0000410Mixed hearing impairment1LRP2 CL E G H40362143Junctional epidermolysis bullosa inversaORPHA129376694600073
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1LRP2 CL E G H40362143Junctional epidermolysis bullosa inversaORPHA129376694600073
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1LRP2 CL E G H40362143Junctional epidermolysis bullosa inversaORPHA129376694600073
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1LRP2 CL E G H40362143Junctional epidermolysis bullosa inversaORPHA129376694600073
HP:0000407HP:0008527Congenital sensorineural hearing impairment1LRP2 CL E G H40362143Junctional epidermolysis bullosa inversaORPHA129376694600073
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1LRP2 CL E G H40362143Junctional epidermolysis bullosa inversaORPHA129376694600073
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1LRP2 CL E G H40362143Junctional epidermolysis bullosa inversaORPHA129376694600073
HP:0000407HP:0008587Mild neurosensory hearing impairment1LRP2 CL E G H40362143Junctional epidermolysis bullosa inversaORPHA129376694600073
HP:0000407HP:0008504Moderate sensorineural hearing impairment1LRP2 CL E G H40362143Junctional epidermolysis bullosa inversaORPHA129376694600073
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1LRP2 CL E G H40362143Junctional epidermolysis bullosa inversaORPHA129376694600073
HP:0000407HP:0011476Profound sensorineural hearing impairment1LRP2 CL E G H40362143Junctional epidermolysis bullosa inversaORPHA129376694600073
HP:0000407HP:0000408Progressive sensorineural hearing impairment1LRP2 CL E G H40362143Junctional epidermolysis bullosa inversaORPHA129376694600073
HP:0000407HP:0008625Severe sensorineural hearing impairment1LRP2 CL E G H40362143Junctional epidermolysis bullosa inversaORPHA129376694600073
HP:0000407HP:0000410Mixed hearing impairment1LRP4 CL E G H40383152Kuster syndromeORPHA110516696604270
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1LRP4 CL E G H40383152Kuster syndromeORPHA110516696604270
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1LRP4 CL E G H40383152Kuster syndromeORPHA110516696604270
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1LRP4 CL E G H40383152Kuster syndromeORPHA110516696604270
HP:0000407HP:0008527Congenital sensorineural hearing impairment1LRP4 CL E G H40383152Kuster syndromeORPHA110516696604270
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1LRP4 CL E G H40383152Kuster syndromeORPHA110516696604270
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1LRP4 CL E G H40383152Kuster syndromeORPHA110516696604270
HP:0000407HP:0008587Mild neurosensory hearing impairment1LRP4 CL E G H40383152Kuster syndromeORPHA110516696604270
HP:0000407HP:0008504Moderate sensorineural hearing impairment1LRP4 CL E G H40383152Kuster syndromeORPHA110516696604270
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1LRP4 CL E G H40383152Kuster syndromeORPHA110516696604270
HP:0000407HP:0011476Profound sensorineural hearing impairment1LRP4 CL E G H40383152Kuster syndromeORPHA110516696604270
HP:0000407HP:0000408Progressive sensorineural hearing impairment1LRP4 CL E G H40383152Kuster syndromeORPHA110516696604270
HP:0000407HP:0008625Severe sensorineural hearing impairment1LRP4 CL E G H40383152Kuster syndromeORPHA110516696604270
HP:0000407HP:0000410Mixed hearing impairment1LRP5 CL E G H40413416Mathieu De Broca Bony syndromeORPHA118196697603506
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1LRP5 CL E G H40413416Mathieu De Broca Bony syndromeORPHA118196697603506
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1LRP5 CL E G H40413416Mathieu De Broca Bony syndromeORPHA118196697603506
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1LRP5 CL E G H40413416Mathieu De Broca Bony syndromeORPHA118196697603506
HP:0000407HP:0008527Congenital sensorineural hearing impairment1LRP5 CL E G H40413416Mathieu De Broca Bony syndromeORPHA118196697603506
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1LRP5 CL E G H40413416Mathieu De Broca Bony syndromeORPHA118196697603506
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1LRP5 CL E G H40413416Mathieu De Broca Bony syndromeORPHA118196697603506
HP:0000407HP:0008587Mild neurosensory hearing impairment1LRP5 CL E G H40413416Mathieu De Broca Bony syndromeORPHA118196697603506
HP:0000407HP:0008504Moderate sensorineural hearing impairment1LRP5 CL E G H40413416Mathieu De Broca Bony syndromeORPHA118196697603506
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1LRP5 CL E G H40413416Mathieu De Broca Bony syndromeORPHA118196697603506
HP:0000407HP:0011476Profound sensorineural hearing impairment1LRP5 CL E G H40413416Mathieu De Broca Bony syndromeORPHA118196697603506
HP:0000407HP:0000408Progressive sensorineural hearing impairment1LRP5 CL E G H40413416Mathieu De Broca Bony syndromeORPHA118196697603506
HP:0000407HP:0008625Severe sensorineural hearing impairment1LRP5 CL E G H40413416Mathieu De Broca Bony syndromeORPHA118196697603506
HP:0000407HP:0000410Mixed hearing impairment1LRP5 CL E G H4041144750Worth disease144750C0432273OMIM118196697603506
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1LRP5 CL E G H4041144750Worth disease144750C0432273OMIM118196697603506
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1LRP5 CL E G H4041144750Worth disease144750C0432273OMIM118196697603506
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1LRP5 CL E G H4041144750Worth disease144750C0432273OMIM118196697603506
HP:0000407HP:0008527Congenital sensorineural hearing impairment1LRP5 CL E G H4041144750Worth disease144750C0432273OMIM118196697603506
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1LRP5 CL E G H4041144750Worth disease144750C0432273OMIM118196697603506
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1LRP5 CL E G H4041144750Worth disease144750C0432273OMIM118196697603506
HP:0000407HP:0008587Mild neurosensory hearing impairment1LRP5 CL E G H4041144750Worth disease144750C0432273OMIM118196697603506
HP:0000407HP:0008504Moderate sensorineural hearing impairment1LRP5 CL E G H4041144750Worth disease144750C0432273OMIM118196697603506
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1LRP5 CL E G H4041144750Worth disease144750C0432273OMIM118196697603506
HP:0000407HP:0011476Profound sensorineural hearing impairment1LRP5 CL E G H4041144750Worth disease144750C0432273OMIM118196697603506
HP:0000407HP:0000408Progressive sensorineural hearing impairment1LRP5 CL E G H4041144750Worth disease144750C0432273OMIM118196697603506
HP:0000407HP:0008625Severe sensorineural hearing impairment1LRP5 CL E G H4041144750Worth disease144750C0432273OMIM118196697603506
HP:0000407HP:0000410Mixed hearing impairment1MAF CL E G H4094601088Ayme-gripp syndrome601088C1832812OMIM13786776177075
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MAF CL E G H4094601088Ayme-gripp syndrome601088C1832812OMIM13786776177075
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MAF CL E G H4094601088Ayme-gripp syndrome601088C1832812OMIM13786776177075
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MAF CL E G H4094601088Ayme-gripp syndrome601088C1832812OMIM13786776177075
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MAF CL E G H4094601088Ayme-gripp syndrome601088C1832812OMIM13786776177075
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MAF CL E G H4094601088Ayme-gripp syndrome601088C1832812OMIM13786776177075
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MAF CL E G H4094601088Ayme-gripp syndrome601088C1832812OMIM13786776177075
HP:0000407HP:0008587Mild neurosensory hearing impairment1MAF CL E G H4094601088Ayme-gripp syndrome601088C1832812OMIM13786776177075
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MAF CL E G H4094601088Ayme-gripp syndrome601088C1832812OMIM13786776177075
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MAF CL E G H4094601088Ayme-gripp syndrome601088C1832812OMIM13786776177075
HP:0000407HP:0011476Profound sensorineural hearing impairment1MAF CL E G H4094601088Ayme-gripp syndrome601088C1832812OMIM13786776177075
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MAF CL E G H4094601088Ayme-gripp syndrome601088C1832812OMIM13786776177075
HP:0000407HP:0008625Severe sensorineural hearing impairment1MAF CL E G H4094601088Ayme-gripp syndrome601088C1832812OMIM13786776177075
HP:0000407HP:0000410Mixed hearing impairment1MAFB CL E G H9935233D ercole syndromeORPHA11536408608968
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MAFB CL E G H9935233D ercole syndromeORPHA11536408608968
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MAFB CL E G H9935233D ercole syndromeORPHA11536408608968
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MAFB CL E G H9935233D ercole syndromeORPHA11536408608968
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MAFB CL E G H9935233D ercole syndromeORPHA11536408608968
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MAFB CL E G H9935233D ercole syndromeORPHA11536408608968
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MAFB CL E G H9935233D ercole syndromeORPHA11536408608968
HP:0000407HP:0008587Mild neurosensory hearing impairment1MAFB CL E G H9935233D ercole syndromeORPHA11536408608968
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MAFB CL E G H9935233D ercole syndromeORPHA11536408608968
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MAFB CL E G H9935233D ercole syndromeORPHA11536408608968
HP:0000407HP:0011476Profound sensorineural hearing impairment1MAFB CL E G H9935233D ercole syndromeORPHA11536408608968
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MAFB CL E G H9935233D ercole syndromeORPHA11536408608968
HP:0000407HP:0008625Severe sensorineural hearing impairment1MAFB CL E G H9935233D ercole syndromeORPHA11536408608968
HP:0000407HP:0000410Mixed hearing impairment1MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14456816154235
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14456816154235
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14456816154235
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14456816154235
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14456816154235
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14456816154235
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14456816154235
HP:0000407HP:0008587Mild neurosensory hearing impairment1MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14456816154235
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14456816154235
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14456816154235
HP:0000407HP:0011476Profound sensorineural hearing impairment1MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14456816154235
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14456816154235
HP:0000407HP:0008625Severe sensorineural hearing impairment1MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14456816154235
HP:0000407HP:0000410Mixed hearing impairment1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0000407HP:0008587Mild neurosensory hearing impairment1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0000407HP:0011476Profound sensorineural hearing impairment1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0000407HP:0008625Severe sensorineural hearing impairment1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0000407HP:0000410Mixed hearing impairment1MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM14936840176872
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM14936840176872
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM14936840176872
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM14936840176872
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM14936840176872
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM14936840176872
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM14936840176872
HP:0000407HP:0008587Mild neurosensory hearing impairment1MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM14936840176872
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM14936840176872
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM14936840176872
HP:0000407HP:0011476Profound sensorineural hearing impairment1MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM14936840176872
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM14936840176872
HP:0000407HP:0008625Severe sensorineural hearing impairment1MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM14936840176872
HP:0000407HP:0000410Mixed hearing impairment1MAP3K20 CL E G H51776616890Split-foot malformation with mesoaxial polydactyly616890C4225167OMIM136817797609479
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MAP3K20 CL E G H51776616890Split-foot malformation with mesoaxial polydactyly616890C4225167OMIM136817797609479
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MAP3K20 CL E G H51776616890Split-foot malformation with mesoaxial polydactyly616890C4225167OMIM136817797609479
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MAP3K20 CL E G H51776616890Split-foot malformation with mesoaxial polydactyly616890C4225167OMIM136817797609479
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MAP3K20 CL E G H51776616890Split-foot malformation with mesoaxial polydactyly616890C4225167OMIM136817797609479
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MAP3K20 CL E G H51776616890Split-foot malformation with mesoaxial polydactyly616890C4225167OMIM136817797609479
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MAP3K20 CL E G H51776616890Split-foot malformation with mesoaxial polydactyly616890C4225167OMIM136817797609479
HP:0000407HP:0008587Mild neurosensory hearing impairment1MAP3K20 CL E G H51776616890Split-foot malformation with mesoaxial polydactyly616890C4225167OMIM136817797609479
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MAP3K20 CL E G H51776616890Split-foot malformation with mesoaxial polydactyly616890C4225167OMIM136817797609479
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MAP3K20 CL E G H51776616890Split-foot malformation with mesoaxial polydactyly616890C4225167OMIM136817797609479
HP:0000407HP:0011476Profound sensorineural hearing impairment1MAP3K20 CL E G H51776616890Split-foot malformation with mesoaxial polydactyly616890C4225167OMIM136817797609479
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MAP3K20 CL E G H51776616890Split-foot malformation with mesoaxial polydactyly616890C4225167OMIM136817797609479
HP:0000407HP:0008625Severe sensorineural hearing impairment1MAP3K20 CL E G H51776616890Split-foot malformation with mesoaxial polydactyly616890C4225167OMIM136817797609479
HP:0000407HP:0000410Mixed hearing impairment1MAP3K7 CL E G H68851826Dexamethasone sensitive hypertensionORPHA12356859602614
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MAP3K7 CL E G H68851826Dexamethasone sensitive hypertensionORPHA12356859602614
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MAP3K7 CL E G H68851826Dexamethasone sensitive hypertensionORPHA12356859602614
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MAP3K7 CL E G H68851826Dexamethasone sensitive hypertensionORPHA12356859602614
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MAP3K7 CL E G H68851826Dexamethasone sensitive hypertensionORPHA12356859602614
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MAP3K7 CL E G H68851826Dexamethasone sensitive hypertensionORPHA12356859602614
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MAP3K7 CL E G H68851826Dexamethasone sensitive hypertensionORPHA12356859602614
HP:0000407HP:0008587Mild neurosensory hearing impairment1MAP3K7 CL E G H68851826Dexamethasone sensitive hypertensionORPHA12356859602614
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MAP3K7 CL E G H68851826Dexamethasone sensitive hypertensionORPHA12356859602614
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MAP3K7 CL E G H68851826Dexamethasone sensitive hypertensionORPHA12356859602614
HP:0000407HP:0011476Profound sensorineural hearing impairment1MAP3K7 CL E G H68851826Dexamethasone sensitive hypertensionORPHA12356859602614
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MAP3K7 CL E G H68851826Dexamethasone sensitive hypertensionORPHA12356859602614
HP:0000407HP:0008625Severe sensorineural hearing impairment1MAP3K7 CL E G H68851826Dexamethasone sensitive hypertensionORPHA12356859602614
HP:0000407HP:0000410Mixed hearing impairment1MBTPS2 CL E G H51360659AmyoplasiaORPHA130915455300294
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MBTPS2 CL E G H51360659AmyoplasiaORPHA130915455300294
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MBTPS2 CL E G H51360659AmyoplasiaORPHA130915455300294
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MBTPS2 CL E G H51360659AmyoplasiaORPHA130915455300294
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MBTPS2 CL E G H51360659AmyoplasiaORPHA130915455300294
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MBTPS2 CL E G H51360659AmyoplasiaORPHA130915455300294
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MBTPS2 CL E G H51360659AmyoplasiaORPHA130915455300294
HP:0000407HP:0008587Mild neurosensory hearing impairment1MBTPS2 CL E G H51360659AmyoplasiaORPHA130915455300294
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MBTPS2 CL E G H51360659AmyoplasiaORPHA130915455300294
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MBTPS2 CL E G H51360659AmyoplasiaORPHA130915455300294
HP:0000407HP:0011476Profound sensorineural hearing impairment1MBTPS2 CL E G H51360659AmyoplasiaORPHA130915455300294
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MBTPS2 CL E G H51360659AmyoplasiaORPHA130915455300294
HP:0000407HP:0008625Severe sensorineural hearing impairment1MBTPS2 CL E G H51360659AmyoplasiaORPHA130915455300294
HP:0000407HP:0000410Mixed hearing impairment1MED12 CL E G H9968305450FG syndrome305450C0220769OMIM1157311957300188
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MED12 CL E G H9968305450FG syndrome305450C0220769OMIM1157311957300188
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MED12 CL E G H9968305450FG syndrome305450C0220769OMIM1157311957300188
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MED12 CL E G H9968305450FG syndrome305450C0220769OMIM1157311957300188
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MED12 CL E G H9968305450FG syndrome305450C0220769OMIM1157311957300188
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MED12 CL E G H9968305450FG syndrome305450C0220769OMIM1157311957300188
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MED12 CL E G H9968305450FG syndrome305450C0220769OMIM1157311957300188
HP:0000407HP:0008587Mild neurosensory hearing impairment1MED12 CL E G H9968305450FG syndrome305450C0220769OMIM1157311957300188
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MED12 CL E G H9968305450FG syndrome305450C0220769OMIM1157311957300188
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MED12 CL E G H9968305450FG syndrome305450C0220769OMIM1157311957300188
HP:0000407HP:0011476Profound sensorineural hearing impairment1MED12 CL E G H9968305450FG syndrome305450C0220769OMIM1157311957300188
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MED12 CL E G H9968305450FG syndrome305450C0220769OMIM1157311957300188
HP:0000407HP:0008625Severe sensorineural hearing impairment1MED12 CL E G H9968305450FG syndrome305450C0220769OMIM1157311957300188
HP:0000407HP:0000410Mixed hearing impairment1MEOX1 CL E G H4222214300Klippel-Feil syndrome 2, autosomal recessive214300C1859209OMIM11047013600147
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MEOX1 CL E G H4222214300Klippel-Feil syndrome 2, autosomal recessive214300C1859209OMIM11047013600147
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MEOX1 CL E G H4222214300Klippel-Feil syndrome 2, autosomal recessive214300C1859209OMIM11047013600147
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MEOX1 CL E G H4222214300Klippel-Feil syndrome 2, autosomal recessive214300C1859209OMIM11047013600147
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MEOX1 CL E G H4222214300Klippel-Feil syndrome 2, autosomal recessive214300C1859209OMIM11047013600147
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MEOX1 CL E G H4222214300Klippel-Feil syndrome 2, autosomal recessive214300C1859209OMIM11047013600147
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MEOX1 CL E G H4222214300Klippel-Feil syndrome 2, autosomal recessive214300C1859209OMIM11047013600147
HP:0000407HP:0008587Mild neurosensory hearing impairment1MEOX1 CL E G H4222214300Klippel-Feil syndrome 2, autosomal recessive214300C1859209OMIM11047013600147
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MEOX1 CL E G H4222214300Klippel-Feil syndrome 2, autosomal recessive214300C1859209OMIM11047013600147
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MEOX1 CL E G H4222214300Klippel-Feil syndrome 2, autosomal recessive214300C1859209OMIM11047013600147
HP:0000407HP:0011476Profound sensorineural hearing impairment1MEOX1 CL E G H4222214300Klippel-Feil syndrome 2, autosomal recessive214300C1859209OMIM11047013600147
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MEOX1 CL E G H4222214300Klippel-Feil syndrome 2, autosomal recessive214300C1859209OMIM11047013600147
HP:0000407HP:0008625Severe sensorineural hearing impairment1MEOX1 CL E G H4222214300Klippel-Feil syndrome 2, autosomal recessive214300C1859209OMIM11047013600147
HP:0000407HP:0000410Mixed hearing impairment1MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18157027604705
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18157027604705
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18157027604705
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18157027604705
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18157027604705
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18157027604705
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18157027604705
HP:0000407HP:0008587Mild neurosensory hearing impairment1MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18157027604705
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18157027604705
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18157027604705
HP:0000407HP:0011476Profound sensorineural hearing impairment1MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18157027604705
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18157027604705
HP:0000407HP:0008625Severe sensorineural hearing impairment1MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18157027604705
HP:0000407HP:0000410Mixed hearing impairment1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0000407HP:0008587Mild neurosensory hearing impairment1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0000407HP:0011476Profound sensorineural hearing impairment1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0000407HP:0008625Severe sensorineural hearing impairment1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0000407HP:0000410Mixed hearing impairment1MIR96 CL E G H407053613074Deafness, autosomal dominant 50613074C3888123OMIM14131648611606
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MIR96 CL E G H407053613074Deafness, autosomal dominant 50613074C3888123OMIM14131648611606
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MIR96 CL E G H407053613074Deafness, autosomal dominant 50613074C3888123OMIM14131648611606
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MIR96 CL E G H407053613074Deafness, autosomal dominant 50613074C3888123OMIM14131648611606
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MIR96 CL E G H407053613074Deafness, autosomal dominant 50613074C3888123OMIM14131648611606
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MIR96 CL E G H407053613074Deafness, autosomal dominant 50613074C3888123OMIM14131648611606
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MIR96 CL E G H407053613074Deafness, autosomal dominant 50613074C3888123OMIM14131648611606
HP:0000407HP:0008587Mild neurosensory hearing impairment1MIR96 CL E G H407053613074Deafness, autosomal dominant 50613074C3888123OMIM14131648611606
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MIR96 CL E G H407053613074Deafness, autosomal dominant 50613074C3888123OMIM14131648611606
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MIR96 CL E G H407053613074Deafness, autosomal dominant 50613074C3888123OMIM14131648611606
HP:0000407HP:0011476Profound sensorineural hearing impairment1MIR96 CL E G H407053613074Deafness, autosomal dominant 50613074C3888123OMIM14131648611606
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MIR96 CL E G H407053613074Deafness, autosomal dominant 50613074C3888123OMIM14131648611606
HP:0000407HP:0008625Severe sensorineural hearing impairment1MIR96 CL E G H407053613074Deafness, autosomal dominant 50613074C3888123OMIM14131648611606
HP:0000407HP:0000410Mixed hearing impairment1MITF CL E G H4286895ORPHA15397105156845
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MITF CL E G H4286895ORPHA15397105156845
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MITF CL E G H4286895ORPHA15397105156845
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MITF CL E G H4286895ORPHA15397105156845
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MITF CL E G H4286895ORPHA15397105156845
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MITF CL E G H4286895ORPHA15397105156845
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MITF CL E G H4286895ORPHA15397105156845
HP:0000407HP:0008587Mild neurosensory hearing impairment1MITF CL E G H4286895ORPHA15397105156845
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MITF CL E G H4286895ORPHA15397105156845
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MITF CL E G H4286895ORPHA15397105156845
HP:0000407HP:0011476Profound sensorineural hearing impairment1MITF CL E G H4286895ORPHA15397105156845
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MITF CL E G H4286895ORPHA15397105156845
HP:0000407HP:0008625Severe sensorineural hearing impairment1MITF CL E G H4286895ORPHA15397105156845
HP:0000407HP:0000410Mixed hearing impairment1MITF CL E G H4286103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM15397105156845
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MITF CL E G H4286103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM15397105156845
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MITF CL E G H4286103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM15397105156845
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MITF CL E G H4286103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM15397105156845
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MITF CL E G H4286103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM15397105156845
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MITF CL E G H4286103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM15397105156845
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MITF CL E G H4286103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM15397105156845
HP:0000407HP:0008587Mild neurosensory hearing impairment1MITF CL E G H4286103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM15397105156845
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MITF CL E G H4286103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM15397105156845
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MITF CL E G H4286103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM15397105156845
HP:0000407HP:0011476Profound sensorineural hearing impairment1MITF CL E G H4286103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM15397105156845
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MITF CL E G H4286103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM15397105156845
HP:0000407HP:0008625Severe sensorineural hearing impairment1MITF CL E G H4286103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM15397105156845
HP:0000407HP:0000410Mixed hearing impairment1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0000407HP:0008587Mild neurosensory hearing impairment1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0000407HP:0011476Profound sensorineural hearing impairment1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0000407HP:0008625Severe sensorineural hearing impairment1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0000407HP:0000410Mixed hearing impairment1MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM147324862601336
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM147324862601336
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM147324862601336
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM147324862601336
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM147324862601336
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM147324862601336
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM147324862601336
HP:0000407HP:0008587Mild neurosensory hearing impairment1MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM147324862601336
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM147324862601336
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM147324862601336
HP:0000407HP:0011476Profound sensorineural hearing impairment1MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM147324862601336
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM147324862601336
HP:0000407HP:0008625Severe sensorineural hearing impairment1MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM147324862601336
HP:0000407HP:0000410Mixed hearing impairment1MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM16077225159440
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM16077225159440
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM16077225159440
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM16077225159440
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM16077225159440
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM16077225159440
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM16077225159440
HP:0000407HP:0008587Mild neurosensory hearing impairment1MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM16077225159440
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM16077225159440
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM16077225159440
HP:0000407HP:0011476Profound sensorineural hearing impairment1MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM16077225159440
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM16077225159440
HP:0000407HP:0008625Severe sensorineural hearing impairment1MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM16077225159440
HP:0000407HP:0000410Mixed hearing impairment1MT-CO1 CL E G H4512550ORPHA17419516030
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MT-CO1 CL E G H4512550ORPHA17419516030
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MT-CO1 CL E G H4512550ORPHA17419516030
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MT-CO1 CL E G H4512550ORPHA17419516030
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MT-CO1 CL E G H4512550ORPHA17419516030
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MT-CO1 CL E G H4512550ORPHA17419516030
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MT-CO1 CL E G H4512550ORPHA17419516030
HP:0000407HP:0008587Mild neurosensory hearing impairment1MT-CO1 CL E G H4512550ORPHA17419516030
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MT-CO1 CL E G H4512550ORPHA17419516030
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MT-CO1 CL E G H4512550ORPHA17419516030
HP:0000407HP:0011476Profound sensorineural hearing impairment1MT-CO1 CL E G H4512550ORPHA17419516030
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MT-CO1 CL E G H4512550ORPHA17419516030
HP:0000407HP:0008625Severe sensorineural hearing impairment1MT-CO1 CL E G H4512550ORPHA17419516030
HP:0000407HP:0000410Mixed hearing impairment1MT-CO2 CL E G H4513550ORPHA17421516040
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MT-CO2 CL E G H4513550ORPHA17421516040
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MT-CO2 CL E G H4513550ORPHA17421516040
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MT-CO2 CL E G H4513550ORPHA17421516040
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MT-CO2 CL E G H4513550ORPHA17421516040
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MT-CO2 CL E G H4513550ORPHA17421516040
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MT-CO2 CL E G H4513550ORPHA17421516040
HP:0000407HP:0008587Mild neurosensory hearing impairment1MT-CO2 CL E G H4513550ORPHA17421516040
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MT-CO2 CL E G H4513550ORPHA17421516040
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MT-CO2 CL E G H4513550ORPHA17421516040
HP:0000407HP:0011476Profound sensorineural hearing impairment1MT-CO2 CL E G H4513550ORPHA17421516040
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MT-CO2 CL E G H4513550ORPHA17421516040
HP:0000407HP:0008625Severe sensorineural hearing impairment1MT-CO2 CL E G H4513550ORPHA17421516040
HP:0000407HP:0000410Mixed hearing impairment1MT-CO3 CL E G H4514550ORPHA17422516050
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MT-CO3 CL E G H4514550ORPHA17422516050
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MT-CO3 CL E G H4514550ORPHA17422516050
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MT-CO3 CL E G H4514550ORPHA17422516050
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MT-CO3 CL E G H4514550ORPHA17422516050
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MT-CO3 CL E G H4514550ORPHA17422516050
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MT-CO3 CL E G H4514550ORPHA17422516050
HP:0000407HP:0008587Mild neurosensory hearing impairment1MT-CO3 CL E G H4514550ORPHA17422516050
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MT-CO3 CL E G H4514550ORPHA17422516050
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MT-CO3 CL E G H4514550ORPHA17422516050
HP:0000407HP:0011476Profound sensorineural hearing impairment1MT-CO3 CL E G H4514550ORPHA17422516050
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MT-CO3 CL E G H4514550ORPHA17422516050
HP:0000407HP:0008625Severe sensorineural hearing impairment1MT-CO3 CL E G H4514550ORPHA17422516050
HP:0000407HP:0000410Mixed hearing impairment1MT-ND1 CL E G H4535550ORPHA17455516000
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MT-ND1 CL E G H4535550ORPHA17455516000
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MT-ND1 CL E G H4535550ORPHA17455516000
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MT-ND1 CL E G H4535550ORPHA17455516000
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MT-ND1 CL E G H4535550ORPHA17455516000
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MT-ND1 CL E G H4535550ORPHA17455516000
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MT-ND1 CL E G H4535550ORPHA17455516000
HP:0000407HP:0008587Mild neurosensory hearing impairment1MT-ND1 CL E G H4535550ORPHA17455516000
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MT-ND1 CL E G H4535550ORPHA17455516000
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MT-ND1 CL E G H4535550ORPHA17455516000
HP:0000407HP:0011476Profound sensorineural hearing impairment1MT-ND1 CL E G H4535550ORPHA17455516000
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MT-ND1 CL E G H4535550ORPHA17455516000
HP:0000407HP:0008625Severe sensorineural hearing impairment1MT-ND1 CL E G H4535550ORPHA17455516000
HP:0000407HP:0000410Mixed hearing impairment1MT-ND4 CL E G H4538550ORPHA17459516003
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MT-ND4 CL E G H4538550ORPHA17459516003
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MT-ND4 CL E G H4538550ORPHA17459516003
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MT-ND4 CL E G H4538550ORPHA17459516003
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MT-ND4 CL E G H4538550ORPHA17459516003
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MT-ND4 CL E G H4538550ORPHA17459516003
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MT-ND4 CL E G H4538550ORPHA17459516003
HP:0000407HP:0008587Mild neurosensory hearing impairment1MT-ND4 CL E G H4538550ORPHA17459516003
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MT-ND4 CL E G H4538550ORPHA17459516003
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MT-ND4 CL E G H4538550ORPHA17459516003
HP:0000407HP:0011476Profound sensorineural hearing impairment1MT-ND4 CL E G H4538550ORPHA17459516003
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MT-ND4 CL E G H4538550ORPHA17459516003
HP:0000407HP:0008625Severe sensorineural hearing impairment1MT-ND4 CL E G H4538550ORPHA17459516003
HP:0000407HP:0000410Mixed hearing impairment1MT-ND5 CL E G H4540550ORPHA17461516005
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MT-ND5 CL E G H4540550ORPHA17461516005
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MT-ND5 CL E G H4540550ORPHA17461516005
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MT-ND5 CL E G H4540550ORPHA17461516005
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MT-ND5 CL E G H4540550ORPHA17461516005
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MT-ND5 CL E G H4540550ORPHA17461516005
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MT-ND5 CL E G H4540550ORPHA17461516005
HP:0000407HP:0008587Mild neurosensory hearing impairment1MT-ND5 CL E G H4540550ORPHA17461516005
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MT-ND5 CL E G H4540550ORPHA17461516005
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MT-ND5 CL E G H4540550ORPHA17461516005
HP:0000407HP:0011476Profound sensorineural hearing impairment1MT-ND5 CL E G H4540550ORPHA17461516005
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MT-ND5 CL E G H4540550ORPHA17461516005
HP:0000407HP:0008625Severe sensorineural hearing impairment1MT-ND5 CL E G H4540550ORPHA17461516005
HP:0000407HP:0000410Mixed hearing impairment1MT-ND5 CL E G H4540551ORPHA17461516005
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MT-ND5 CL E G H4540551ORPHA17461516005
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MT-ND5 CL E G H4540551ORPHA17461516005
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MT-ND5 CL E G H4540551ORPHA17461516005
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MT-ND5 CL E G H4540551ORPHA17461516005
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MT-ND5 CL E G H4540551ORPHA17461516005
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MT-ND5 CL E G H4540551ORPHA17461516005
HP:0000407HP:0008587Mild neurosensory hearing impairment1MT-ND5 CL E G H4540551ORPHA17461516005
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MT-ND5 CL E G H4540551ORPHA17461516005
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MT-ND5 CL E G H4540551ORPHA17461516005
HP:0000407HP:0011476Profound sensorineural hearing impairment1MT-ND5 CL E G H4540551ORPHA17461516005
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MT-ND5 CL E G H4540551ORPHA17461516005
HP:0000407HP:0008625Severe sensorineural hearing impairment1MT-ND5 CL E G H4540551ORPHA17461516005
HP:0000407HP:0000410Mixed hearing impairment1MT-ND6 CL E G H4541550ORPHA17462516006
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MT-ND6 CL E G H4541550ORPHA17462516006
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MT-ND6 CL E G H4541550ORPHA17462516006
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MT-ND6 CL E G H4541550ORPHA17462516006
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MT-ND6 CL E G H4541550ORPHA17462516006
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MT-ND6 CL E G H4541550ORPHA17462516006
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MT-ND6 CL E G H4541550ORPHA17462516006
HP:0000407HP:0008587Mild neurosensory hearing impairment1MT-ND6 CL E G H4541550ORPHA17462516006
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MT-ND6 CL E G H4541550ORPHA17462516006
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MT-ND6 CL E G H4541550ORPHA17462516006
HP:0000407HP:0011476Profound sensorineural hearing impairment1MT-ND6 CL E G H4541550ORPHA17462516006
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MT-ND6 CL E G H4541550ORPHA17462516006
HP:0000407HP:0008625Severe sensorineural hearing impairment1MT-ND6 CL E G H4541550ORPHA17462516006
HP:0000407HP:0000410Mixed hearing impairment1MT-RNR1 CL E G H4549551ORPHA117470180450
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MT-RNR1 CL E G H4549551ORPHA117470180450
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MT-RNR1 CL E G H4549551ORPHA117470180450
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MT-RNR1 CL E G H4549551ORPHA117470180450
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MT-RNR1 CL E G H4549551ORPHA117470180450
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MT-RNR1 CL E G H4549551ORPHA117470180450
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MT-RNR1 CL E G H4549551ORPHA117470180450
HP:0000407HP:0008587Mild neurosensory hearing impairment1MT-RNR1 CL E G H4549551ORPHA117470180450
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MT-RNR1 CL E G H4549551ORPHA117470180450
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MT-RNR1 CL E G H4549551ORPHA117470180450
HP:0000407HP:0011476Profound sensorineural hearing impairment1MT-RNR1 CL E G H4549551ORPHA117470180450
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MT-RNR1 CL E G H4549551ORPHA117470180450
HP:0000407HP:0008625Severe sensorineural hearing impairment1MT-RNR1 CL E G H4549551ORPHA117470180450
HP:0000407HP:0000410Mixed hearing impairment1MT-TE CL E G H4556225Radial ray agenesisORPHA17479590025
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MT-TE CL E G H4556225Radial ray agenesisORPHA17479590025
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MT-TE CL E G H4556225Radial ray agenesisORPHA17479590025
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MT-TE CL E G H4556225Radial ray agenesisORPHA17479590025
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MT-TE CL E G H4556225Radial ray agenesisORPHA17479590025
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MT-TE CL E G H4556225Radial ray agenesisORPHA17479590025
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MT-TE CL E G H4556225Radial ray agenesisORPHA17479590025
HP:0000407HP:0008587Mild neurosensory hearing impairment1MT-TE CL E G H4556225Radial ray agenesisORPHA17479590025
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MT-TE CL E G H4556225Radial ray agenesisORPHA17479590025
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MT-TE CL E G H4556225Radial ray agenesisORPHA17479590025
HP:0000407HP:0011476Profound sensorineural hearing impairment1MT-TE CL E G H4556225Radial ray agenesisORPHA17479590025
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MT-TE CL E G H4556225Radial ray agenesisORPHA17479590025
HP:0000407HP:0008625Severe sensorineural hearing impairment1MT-TE CL E G H4556225Radial ray agenesisORPHA17479590025
HP:0000407HP:0000410Mixed hearing impairment1MT-TF CL E G H4558550ORPHA17481590070
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MT-TF CL E G H4558550ORPHA17481590070
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MT-TF CL E G H4558550ORPHA17481590070
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MT-TF CL E G H4558550ORPHA17481590070
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MT-TF CL E G H4558550ORPHA17481590070
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MT-TF CL E G H4558550ORPHA17481590070
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MT-TF CL E G H4558550ORPHA17481590070
HP:0000407HP:0008587Mild neurosensory hearing impairment1MT-TF CL E G H4558550ORPHA17481590070
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MT-TF CL E G H4558550ORPHA17481590070
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MT-TF CL E G H4558550ORPHA17481590070
HP:0000407HP:0011476Profound sensorineural hearing impairment1MT-TF CL E G H4558550ORPHA17481590070
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MT-TF CL E G H4558550ORPHA17481590070
HP:0000407HP:0008625Severe sensorineural hearing impairment1MT-TF CL E G H4558550ORPHA17481590070
HP:0000407HP:0000410Mixed hearing impairment1MT-TF CL E G H4558551ORPHA17481590070
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MT-TF CL E G H4558551ORPHA17481590070
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MT-TF CL E G H4558551ORPHA17481590070
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MT-TF CL E G H4558551ORPHA17481590070
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MT-TF CL E G H4558551ORPHA17481590070
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MT-TF CL E G H4558551ORPHA17481590070
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MT-TF CL E G H4558551ORPHA17481590070
HP:0000407HP:0008587Mild neurosensory hearing impairment1MT-TF CL E G H4558551ORPHA17481590070
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MT-TF CL E G H4558551ORPHA17481590070
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MT-TF CL E G H4558551ORPHA17481590070
HP:0000407HP:0011476Profound sensorineural hearing impairment1MT-TF CL E G H4558551ORPHA17481590070
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MT-TF CL E G H4558551ORPHA17481590070
HP:0000407HP:0008625Severe sensorineural hearing impairment1MT-TF CL E G H4558551ORPHA17481590070
HP:0000407HP:0000410Mixed hearing impairment1MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0000407HP:0008587Mild neurosensory hearing impairment1MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0000407HP:0011476Profound sensorineural hearing impairment1MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0000407HP:0008625Severe sensorineural hearing impairment1MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0000407HP:0000410Mixed hearing impairment1MT-TH CL E G H4564550ORPHA17487590040
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MT-TH CL E G H4564550ORPHA17487590040
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MT-TH CL E G H4564550ORPHA17487590040
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MT-TH CL E G H4564550ORPHA17487590040
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MT-TH CL E G H4564550ORPHA17487590040
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MT-TH CL E G H4564550ORPHA17487590040
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MT-TH CL E G H4564550ORPHA17487590040
HP:0000407HP:0008587Mild neurosensory hearing impairment1MT-TH CL E G H4564550ORPHA17487590040
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MT-TH CL E G H4564550ORPHA17487590040
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MT-TH CL E G H4564550ORPHA17487590040
HP:0000407HP:0011476Profound sensorineural hearing impairment1MT-TH CL E G H4564550ORPHA17487590040
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MT-TH CL E G H4564550ORPHA17487590040
HP:0000407HP:0008625Severe sensorineural hearing impairment1MT-TH CL E G H4564550ORPHA17487590040
HP:0000407HP:0000410Mixed hearing impairment1MT-TH CL E G H4564551ORPHA17487590040
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MT-TH CL E G H4564551ORPHA17487590040
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MT-TH CL E G H4564551ORPHA17487590040
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MT-TH CL E G H4564551ORPHA17487590040
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MT-TH CL E G H4564551ORPHA17487590040
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MT-TH CL E G H4564551ORPHA17487590040
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MT-TH CL E G H4564551ORPHA17487590040
HP:0000407HP:0008587Mild neurosensory hearing impairment1MT-TH CL E G H4564551ORPHA17487590040
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MT-TH CL E G H4564551ORPHA17487590040
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MT-TH CL E G H4564551ORPHA17487590040
HP:0000407HP:0011476Profound sensorineural hearing impairment1MT-TH CL E G H4564551ORPHA17487590040
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MT-TH CL E G H4564551ORPHA17487590040
HP:0000407HP:0008625Severe sensorineural hearing impairment1MT-TH CL E G H4564551ORPHA17487590040
HP:0000407HP:0000410Mixed hearing impairment1MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0000407HP:0008587Mild neurosensory hearing impairment1MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0000407HP:0011476Profound sensorineural hearing impairment1MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0000407HP:0008625Severe sensorineural hearing impairment1MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0000407HP:0000410Mixed hearing impairment1MT-TK CL E G H4566551ORPHA17489590060
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MT-TK CL E G H4566551ORPHA17489590060
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MT-TK CL E G H4566551ORPHA17489590060
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MT-TK CL E G H4566551ORPHA17489590060
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MT-TK CL E G H4566551ORPHA17489590060
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MT-TK CL E G H4566551ORPHA17489590060
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MT-TK CL E G H4566551ORPHA17489590060
HP:0000407HP:0008587Mild neurosensory hearing impairment1MT-TK CL E G H4566551ORPHA17489590060
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MT-TK CL E G H4566551ORPHA17489590060
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MT-TK CL E G H4566551ORPHA17489590060
HP:0000407HP:0011476Profound sensorineural hearing impairment1MT-TK CL E G H4566551ORPHA17489590060
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MT-TK CL E G H4566551ORPHA17489590060
HP:0000407HP:0008625Severe sensorineural hearing impairment1MT-TK CL E G H4566551ORPHA17489590060
HP:0000407HP:0000410Mixed hearing impairment1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0000407HP:0008587Mild neurosensory hearing impairment1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0000407HP:0011476Profound sensorineural hearing impairment1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0000407HP:0008625Severe sensorineural hearing impairment1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0000407HP:0000410Mixed hearing impairment1MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0000407HP:0008587Mild neurosensory hearing impairment1MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0000407HP:0011476Profound sensorineural hearing impairment1MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0000407HP:0008625Severe sensorineural hearing impairment1MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0000407HP:0000410Mixed hearing impairment1MT-TK CL E G H4566225Radial ray agenesisORPHA17489590060
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MT-TK CL E G H4566225Radial ray agenesisORPHA17489590060
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MT-TK CL E G H4566225Radial ray agenesisORPHA17489590060
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MT-TK CL E G H4566225Radial ray agenesisORPHA17489590060
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MT-TK CL E G H4566225Radial ray agenesisORPHA17489590060
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MT-TK CL E G H4566225Radial ray agenesisORPHA17489590060
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MT-TK CL E G H4566225Radial ray agenesisORPHA17489590060
HP:0000407HP:0008587Mild neurosensory hearing impairment1MT-TK CL E G H4566225Radial ray agenesisORPHA17489590060
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MT-TK CL E G H4566225Radial ray agenesisORPHA17489590060
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MT-TK CL E G H4566225Radial ray agenesisORPHA17489590060
HP:0000407HP:0011476Profound sensorineural hearing impairment1MT-TK CL E G H4566225Radial ray agenesisORPHA17489590060
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MT-TK CL E G H4566225Radial ray agenesisORPHA17489590060
HP:0000407HP:0008625Severe sensorineural hearing impairment1MT-TK CL E G H4566225Radial ray agenesisORPHA17489590060
HP:0000407HP:0000410Mixed hearing impairment1MT-TL1 CL E G H4567550ORPHA17490590050
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MT-TL1 CL E G H4567550ORPHA17490590050
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MT-TL1 CL E G H4567550ORPHA17490590050
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MT-TL1 CL E G H4567550ORPHA17490590050
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MT-TL1 CL E G H4567550ORPHA17490590050
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MT-TL1 CL E G H4567550ORPHA17490590050
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MT-TL1 CL E G H4567550ORPHA17490590050
HP:0000407HP:0008587Mild neurosensory hearing impairment1MT-TL1 CL E G H4567550ORPHA17490590050
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MT-TL1 CL E G H4567550ORPHA17490590050
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MT-TL1 CL E G H4567550ORPHA17490590050
HP:0000407HP:0011476Profound sensorineural hearing impairment1MT-TL1 CL E G H4567550ORPHA17490590050
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MT-TL1 CL E G H4567550ORPHA17490590050
HP:0000407HP:0008625Severe sensorineural hearing impairment1MT-TL1 CL E G H4567550ORPHA17490590050
HP:0000407HP:0000410Mixed hearing impairment1MT-TL1 CL E G H4567551ORPHA17490590050
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MT-TL1 CL E G H4567551ORPHA17490590050
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MT-TL1 CL E G H4567551ORPHA17490590050
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MT-TL1 CL E G H4567551ORPHA17490590050
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MT-TL1 CL E G H4567551ORPHA17490590050
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MT-TL1 CL E G H4567551ORPHA17490590050
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MT-TL1 CL E G H4567551ORPHA17490590050
HP:0000407HP:0008587Mild neurosensory hearing impairment1MT-TL1 CL E G H4567551ORPHA17490590050
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MT-TL1 CL E G H4567551ORPHA17490590050
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MT-TL1 CL E G H4567551ORPHA17490590050
HP:0000407HP:0011476Profound sensorineural hearing impairment1MT-TL1 CL E G H4567551ORPHA17490590050
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MT-TL1 CL E G H4567551ORPHA17490590050
HP:0000407HP:0008625Severe sensorineural hearing impairment1MT-TL1 CL E G H4567551ORPHA17490590050
HP:0000407HP:0000410Mixed hearing impairment1MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0000407HP:0008587Mild neurosensory hearing impairment1MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0000407HP:0011476Profound sensorineural hearing impairment1MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0000407HP:0008625Severe sensorineural hearing impairment1MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0000407HP:0000410Mixed hearing impairment1MT-TL1 CL E G H4567225Radial ray agenesisORPHA17490590050
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MT-TL1 CL E G H4567225Radial ray agenesisORPHA17490590050
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MT-TL1 CL E G H4567225Radial ray agenesisORPHA17490590050
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MT-TL1 CL E G H4567225Radial ray agenesisORPHA17490590050
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MT-TL1 CL E G H4567225Radial ray agenesisORPHA17490590050
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MT-TL1 CL E G H4567225Radial ray agenesisORPHA17490590050
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MT-TL1 CL E G H4567225Radial ray agenesisORPHA17490590050
HP:0000407HP:0008587Mild neurosensory hearing impairment1MT-TL1 CL E G H4567225Radial ray agenesisORPHA17490590050
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MT-TL1 CL E G H4567225Radial ray agenesisORPHA17490590050
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MT-TL1 CL E G H4567225Radial ray agenesisORPHA17490590050
HP:0000407HP:0011476Profound sensorineural hearing impairment1MT-TL1 CL E G H4567225Radial ray agenesisORPHA17490590050
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MT-TL1 CL E G H4567225Radial ray agenesisORPHA17490590050
HP:0000407HP:0008625Severe sensorineural hearing impairment1MT-TL1 CL E G H4567225Radial ray agenesisORPHA17490590050
HP:0000407HP:0000410Mixed hearing impairment1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0000407HP:0008587Mild neurosensory hearing impairment1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0000407HP:0011476Profound sensorineural hearing impairment1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0000407HP:0008625Severe sensorineural hearing impairment1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0000407HP:0000410Mixed hearing impairment1MT-TP CL E G H4571551ORPHA17494590075
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MT-TP CL E G H4571551ORPHA17494590075
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MT-TP CL E G H4571551ORPHA17494590075
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MT-TP CL E G H4571551ORPHA17494590075
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MT-TP CL E G H4571551ORPHA17494590075
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MT-TP CL E G H4571551ORPHA17494590075
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MT-TP CL E G H4571551ORPHA17494590075
HP:0000407HP:0008587Mild neurosensory hearing impairment1MT-TP CL E G H4571551ORPHA17494590075
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MT-TP CL E G H4571551ORPHA17494590075
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MT-TP CL E G H4571551ORPHA17494590075
HP:0000407HP:0011476Profound sensorineural hearing impairment1MT-TP CL E G H4571551ORPHA17494590075
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MT-TP CL E G H4571551ORPHA17494590075
HP:0000407HP:0008625Severe sensorineural hearing impairment1MT-TP CL E G H4571551ORPHA17494590075
HP:0000407HP:0000410Mixed hearing impairment1MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0000407HP:0008587Mild neurosensory hearing impairment1MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0000407HP:0011476Profound sensorineural hearing impairment1MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0000407HP:0008625Severe sensorineural hearing impairment1MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0000407HP:0000410Mixed hearing impairment1MT-TQ CL E G H4572550ORPHA17495590030
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MT-TQ CL E G H4572550ORPHA17495590030
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MT-TQ CL E G H4572550ORPHA17495590030
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MT-TQ CL E G H4572550ORPHA17495590030
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MT-TQ CL E G H4572550ORPHA17495590030
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MT-TQ CL E G H4572550ORPHA17495590030
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MT-TQ CL E G H4572550ORPHA17495590030
HP:0000407HP:0008587Mild neurosensory hearing impairment1MT-TQ CL E G H4572550ORPHA17495590030
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MT-TQ CL E G H4572550ORPHA17495590030
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MT-TQ CL E G H4572550ORPHA17495590030
HP:0000407HP:0011476Profound sensorineural hearing impairment1MT-TQ CL E G H4572550ORPHA17495590030
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MT-TQ CL E G H4572550ORPHA17495590030
HP:0000407HP:0008625Severe sensorineural hearing impairment1MT-TQ CL E G H4572550ORPHA17495590030
HP:0000407HP:0000410Mixed hearing impairment1MT-TQ CL E G H4572551ORPHA17495590030
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MT-TQ CL E G H4572551ORPHA17495590030
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MT-TQ CL E G H4572551ORPHA17495590030
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MT-TQ CL E G H4572551ORPHA17495590030
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MT-TQ CL E G H4572551ORPHA17495590030
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MT-TQ CL E G H4572551ORPHA17495590030
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MT-TQ CL E G H4572551ORPHA17495590030
HP:0000407HP:0008587Mild neurosensory hearing impairment1MT-TQ CL E G H4572551ORPHA17495590030
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MT-TQ CL E G H4572551ORPHA17495590030
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MT-TQ CL E G H4572551ORPHA17495590030
HP:0000407HP:0011476Profound sensorineural hearing impairment1MT-TQ CL E G H4572551ORPHA17495590030
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MT-TQ CL E G H4572551ORPHA17495590030
HP:0000407HP:0008625Severe sensorineural hearing impairment1MT-TQ CL E G H4572551ORPHA17495590030
HP:0000407HP:0000410Mixed hearing impairment1MT-TS1 CL E G H4574550ORPHA17497590080
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MT-TS1 CL E G H4574550ORPHA17497590080
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MT-TS1 CL E G H4574550ORPHA17497590080
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MT-TS1 CL E G H4574550ORPHA17497590080
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MT-TS1 CL E G H4574550ORPHA17497590080
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MT-TS1 CL E G H4574550ORPHA17497590080
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MT-TS1 CL E G H4574550ORPHA17497590080
HP:0000407HP:0008587Mild neurosensory hearing impairment1MT-TS1 CL E G H4574550ORPHA17497590080
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MT-TS1 CL E G H4574550ORPHA17497590080
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MT-TS1 CL E G H4574550ORPHA17497590080
HP:0000407HP:0011476Profound sensorineural hearing impairment1MT-TS1 CL E G H4574550ORPHA17497590080
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MT-TS1 CL E G H4574550ORPHA17497590080
HP:0000407HP:0008625Severe sensorineural hearing impairment1MT-TS1 CL E G H4574550ORPHA17497590080
HP:0000407HP:0000410Mixed hearing impairment1MT-TS1 CL E G H4574551ORPHA17497590080
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MT-TS1 CL E G H4574551ORPHA17497590080
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MT-TS1 CL E G H4574551ORPHA17497590080
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MT-TS1 CL E G H4574551ORPHA17497590080
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MT-TS1 CL E G H4574551ORPHA17497590080
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MT-TS1 CL E G H4574551ORPHA17497590080
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MT-TS1 CL E G H4574551ORPHA17497590080
HP:0000407HP:0008587Mild neurosensory hearing impairment1MT-TS1 CL E G H4574551ORPHA17497590080
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MT-TS1 CL E G H4574551ORPHA17497590080
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MT-TS1 CL E G H4574551ORPHA17497590080
HP:0000407HP:0011476Profound sensorineural hearing impairment1MT-TS1 CL E G H4574551ORPHA17497590080
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MT-TS1 CL E G H4574551ORPHA17497590080
HP:0000407HP:0008625Severe sensorineural hearing impairment1MT-TS1 CL E G H4574551ORPHA17497590080
HP:0000407HP:0000410Mixed hearing impairment1MT-TS1 CL E G H45742202Exostoses anetodermia brachydactyly type EORPHA17497590080
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MT-TS1 CL E G H45742202Exostoses anetodermia brachydactyly type EORPHA17497590080
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MT-TS1 CL E G H45742202Exostoses anetodermia brachydactyly type EORPHA17497590080
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MT-TS1 CL E G H45742202Exostoses anetodermia brachydactyly type EORPHA17497590080
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MT-TS1 CL E G H45742202Exostoses anetodermia brachydactyly type EORPHA17497590080
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MT-TS1 CL E G H45742202Exostoses anetodermia brachydactyly type EORPHA17497590080
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MT-TS1 CL E G H45742202Exostoses anetodermia brachydactyly type EORPHA17497590080
HP:0000407HP:0008587Mild neurosensory hearing impairment1MT-TS1 CL E G H45742202Exostoses anetodermia brachydactyly type EORPHA17497590080
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MT-TS1 CL E G H45742202Exostoses anetodermia brachydactyly type EORPHA17497590080
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MT-TS1 CL E G H45742202Exostoses anetodermia brachydactyly type EORPHA17497590080
HP:0000407HP:0011476Profound sensorineural hearing impairment1MT-TS1 CL E G H45742202Exostoses anetodermia brachydactyly type EORPHA17497590080
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MT-TS1 CL E G H45742202Exostoses anetodermia brachydactyly type EORPHA17497590080
HP:0000407HP:0008625Severe sensorineural hearing impairment1MT-TS1 CL E G H45742202Exostoses anetodermia brachydactyly type EORPHA17497590080
HP:0000407HP:0000410Mixed hearing impairment1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0000407HP:0008587Mild neurosensory hearing impairment1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0000407HP:0011476Profound sensorineural hearing impairment1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0000407HP:0008625Severe sensorineural hearing impairment1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0000407HP:0000410Mixed hearing impairment1MT-TS2 CL E G H4575550ORPHA17498590085
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MT-TS2 CL E G H4575550ORPHA17498590085
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MT-TS2 CL E G H4575550ORPHA17498590085
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MT-TS2 CL E G H4575550ORPHA17498590085
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MT-TS2 CL E G H4575550ORPHA17498590085
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MT-TS2 CL E G H4575550ORPHA17498590085
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MT-TS2 CL E G H4575550ORPHA17498590085
HP:0000407HP:0008587Mild neurosensory hearing impairment1MT-TS2 CL E G H4575550ORPHA17498590085
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MT-TS2 CL E G H4575550ORPHA17498590085
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MT-TS2 CL E G H4575550ORPHA17498590085
HP:0000407HP:0011476Profound sensorineural hearing impairment1MT-TS2 CL E G H4575550ORPHA17498590085
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MT-TS2 CL E G H4575550ORPHA17498590085
HP:0000407HP:0008625Severe sensorineural hearing impairment1MT-TS2 CL E G H4575550ORPHA17498590085
HP:0000407HP:0000410Mixed hearing impairment1MT-TS2 CL E G H4575551ORPHA17498590085
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MT-TS2 CL E G H4575551ORPHA17498590085
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MT-TS2 CL E G H4575551ORPHA17498590085
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MT-TS2 CL E G H4575551ORPHA17498590085
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MT-TS2 CL E G H4575551ORPHA17498590085
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MT-TS2 CL E G H4575551ORPHA17498590085
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MT-TS2 CL E G H4575551ORPHA17498590085
HP:0000407HP:0008587Mild neurosensory hearing impairment1MT-TS2 CL E G H4575551ORPHA17498590085
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MT-TS2 CL E G H4575551ORPHA17498590085
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MT-TS2 CL E G H4575551ORPHA17498590085
HP:0000407HP:0011476Profound sensorineural hearing impairment1MT-TS2 CL E G H4575551ORPHA17498590085
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MT-TS2 CL E G H4575551ORPHA17498590085
HP:0000407HP:0008625Severe sensorineural hearing impairment1MT-TS2 CL E G H4575551ORPHA17498590085
HP:0000407HP:0000410Mixed hearing impairment1MT-TS2 CL E G H4575231183ORPHA17498590085
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MT-TS2 CL E G H4575231183ORPHA17498590085
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MT-TS2 CL E G H4575231183ORPHA17498590085
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MT-TS2 CL E G H4575231183ORPHA17498590085
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MT-TS2 CL E G H4575231183ORPHA17498590085
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MT-TS2 CL E G H4575231183ORPHA17498590085
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MT-TS2 CL E G H4575231183ORPHA17498590085
HP:0000407HP:0008587Mild neurosensory hearing impairment1MT-TS2 CL E G H4575231183ORPHA17498590085
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MT-TS2 CL E G H4575231183ORPHA17498590085
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MT-TS2 CL E G H4575231183ORPHA17498590085
HP:0000407HP:0011476Profound sensorineural hearing impairment1MT-TS2 CL E G H4575231183ORPHA17498590085
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MT-TS2 CL E G H4575231183ORPHA17498590085
HP:0000407HP:0008625Severe sensorineural hearing impairment1MT-TS2 CL E G H4575231183ORPHA17498590085
HP:0000407HP:0000410Mixed hearing impairment1MT-TW CL E G H4578550ORPHA17501590095
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MT-TW CL E G H4578550ORPHA17501590095
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MT-TW CL E G H4578550ORPHA17501590095
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MT-TW CL E G H4578550ORPHA17501590095
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MT-TW CL E G H4578550ORPHA17501590095
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MT-TW CL E G H4578550ORPHA17501590095
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MT-TW CL E G H4578550ORPHA17501590095
HP:0000407HP:0008587Mild neurosensory hearing impairment1MT-TW CL E G H4578550ORPHA17501590095
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MT-TW CL E G H4578550ORPHA17501590095
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MT-TW CL E G H4578550ORPHA17501590095
HP:0000407HP:0011476Profound sensorineural hearing impairment1MT-TW CL E G H4578550ORPHA17501590095
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MT-TW CL E G H4578550ORPHA17501590095
HP:0000407HP:0008625Severe sensorineural hearing impairment1MT-TW CL E G H4578550ORPHA17501590095
HP:0000407HP:0000410Mixed hearing impairment1MYO7A CL E G H4647231169ORPHA135997606276903
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MYO7A CL E G H4647231169ORPHA135997606276903
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MYO7A CL E G H4647231169ORPHA135997606276903
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MYO7A CL E G H4647231169ORPHA135997606276903
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MYO7A CL E G H4647231169ORPHA135997606276903
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MYO7A CL E G H4647231169ORPHA135997606276903
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MYO7A CL E G H4647231169ORPHA135997606276903
HP:0000407HP:0008587Mild neurosensory hearing impairment1MYO7A CL E G H4647231169ORPHA135997606276903
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MYO7A CL E G H4647231169ORPHA135997606276903
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MYO7A CL E G H4647231169ORPHA135997606276903
HP:0000407HP:0011476Profound sensorineural hearing impairment1MYO7A CL E G H4647231169ORPHA135997606276903
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MYO7A CL E G H4647231169ORPHA135997606276903
HP:0000407HP:0008625Severe sensorineural hearing impairment1MYO7A CL E G H4647231169ORPHA135997606276903
HP:0000407HP:0000410Mixed hearing impairment1MYO7A CL E G H4647231178ORPHA135997606276903
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MYO7A CL E G H4647231178ORPHA135997606276903
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MYO7A CL E G H4647231178ORPHA135997606276903
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MYO7A CL E G H4647231178ORPHA135997606276903
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MYO7A CL E G H4647231178ORPHA135997606276903
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MYO7A CL E G H4647231178ORPHA135997606276903
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MYO7A CL E G H4647231178ORPHA135997606276903
HP:0000407HP:0008587Mild neurosensory hearing impairment1MYO7A CL E G H4647231178ORPHA135997606276903
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MYO7A CL E G H4647231178ORPHA135997606276903
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MYO7A CL E G H4647231178ORPHA135997606276903
HP:0000407HP:0011476Profound sensorineural hearing impairment1MYO7A CL E G H4647231178ORPHA135997606276903
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MYO7A CL E G H4647231178ORPHA135997606276903
HP:0000407HP:0008625Severe sensorineural hearing impairment1MYO7A CL E G H4647231178ORPHA135997606276903
HP:0000407HP:0000410Mixed hearing impairment1MYO7A CL E G H4647600060Deafness, autosomal recessive 2600060C1838701OMIM135997606276903
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MYO7A CL E G H4647600060Deafness, autosomal recessive 2600060C1838701OMIM135997606276903
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MYO7A CL E G H4647600060Deafness, autosomal recessive 2600060C1838701OMIM135997606276903
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MYO7A CL E G H4647600060Deafness, autosomal recessive 2600060C1838701OMIM135997606276903
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MYO7A CL E G H4647600060Deafness, autosomal recessive 2600060C1838701OMIM135997606276903
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MYO7A CL E G H4647600060Deafness, autosomal recessive 2600060C1838701OMIM135997606276903
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MYO7A CL E G H4647600060Deafness, autosomal recessive 2600060C1838701OMIM135997606276903
HP:0000407HP:0008587Mild neurosensory hearing impairment1MYO7A CL E G H4647600060Deafness, autosomal recessive 2600060C1838701OMIM135997606276903
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MYO7A CL E G H4647600060Deafness, autosomal recessive 2600060C1838701OMIM135997606276903
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MYO7A CL E G H4647600060Deafness, autosomal recessive 2600060C1838701OMIM135997606276903
HP:0000407HP:0011476Profound sensorineural hearing impairment1MYO7A CL E G H4647600060Deafness, autosomal recessive 2600060C1838701OMIM135997606276903
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MYO7A CL E G H4647600060Deafness, autosomal recessive 2600060C1838701OMIM135997606276903
HP:0000407HP:0008625Severe sensorineural hearing impairment1MYO7A CL E G H4647600060Deafness, autosomal recessive 2600060C1838701OMIM135997606276903
HP:0000407HP:0000410Mixed hearing impairment1MYO7A CL E G H4647276900Usher syndrome, type 1276900C1568247OMIM135997606276903
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MYO7A CL E G H4647276900Usher syndrome, type 1276900C1568247OMIM135997606276903
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MYO7A CL E G H4647276900Usher syndrome, type 1276900C1568247OMIM135997606276903
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MYO7A CL E G H4647276900Usher syndrome, type 1276900C1568247OMIM135997606276903
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MYO7A CL E G H4647276900Usher syndrome, type 1276900C1568247OMIM135997606276903
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MYO7A CL E G H4647276900Usher syndrome, type 1276900C1568247OMIM135997606276903
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MYO7A CL E G H4647276900Usher syndrome, type 1276900C1568247OMIM135997606276903
HP:0000407HP:0008587Mild neurosensory hearing impairment1MYO7A CL E G H4647276900Usher syndrome, type 1276900C1568247OMIM135997606276903
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MYO7A CL E G H4647276900Usher syndrome, type 1276900C1568247OMIM135997606276903
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MYO7A CL E G H4647276900Usher syndrome, type 1276900C1568247OMIM135997606276903
HP:0000407HP:0011476Profound sensorineural hearing impairment1MYO7A CL E G H4647276900Usher syndrome, type 1276900C1568247OMIM135997606276903
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MYO7A CL E G H4647276900Usher syndrome, type 1276900C1568247OMIM135997606276903
HP:0000407HP:0008625Severe sensorineural hearing impairment1MYO7A CL E G H4647276900Usher syndrome, type 1276900C1568247OMIM135997606276903
HP:0000407HP:0000410Mixed hearing impairment1NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM12307631104170
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM12307631104170
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM12307631104170
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM12307631104170
HP:0000407HP:0008527Congenital sensorineural hearing impairment1NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM12307631104170
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM12307631104170
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM12307631104170
HP:0000407HP:0008587Mild neurosensory hearing impairment1NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM12307631104170
HP:0000407HP:0008504Moderate sensorineural hearing impairment1NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM12307631104170
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM12307631104170
HP:0000407HP:0011476Profound sensorineural hearing impairment1NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM12307631104170
HP:0000407HP:0000408Progressive sensorineural hearing impairment1NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM12307631104170
HP:0000407HP:0008625Severe sensorineural hearing impairment1NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM12307631104170
HP:0000407HP:0000410Mixed hearing impairment1NDP CL E G H4693310600Atrophia bulborum hereditaria310600C0266526OMIM12997678300658
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1NDP CL E G H4693310600Atrophia bulborum hereditaria310600C0266526OMIM12997678300658
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1NDP CL E G H4693310600Atrophia bulborum hereditaria310600C0266526OMIM12997678300658
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1NDP CL E G H4693310600Atrophia bulborum hereditaria310600C0266526OMIM12997678300658
HP:0000407HP:0008527Congenital sensorineural hearing impairment1NDP CL E G H4693310600Atrophia bulborum hereditaria310600C0266526OMIM12997678300658
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1NDP CL E G H4693310600Atrophia bulborum hereditaria310600C0266526OMIM12997678300658
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1NDP CL E G H4693310600Atrophia bulborum hereditaria310600C0266526OMIM12997678300658
HP:0000407HP:0008587Mild neurosensory hearing impairment1NDP CL E G H4693310600Atrophia bulborum hereditaria310600C0266526OMIM12997678300658
HP:0000407HP:0008504Moderate sensorineural hearing impairment1NDP CL E G H4693310600Atrophia bulborum hereditaria310600C0266526OMIM12997678300658
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1NDP CL E G H4693310600Atrophia bulborum hereditaria310600C0266526OMIM12997678300658
HP:0000407HP:0011476Profound sensorineural hearing impairment1NDP CL E G H4693310600Atrophia bulborum hereditaria310600C0266526OMIM12997678300658
HP:0000407HP:0000408Progressive sensorineural hearing impairment1NDP CL E G H4693310600Atrophia bulborum hereditaria310600C0266526OMIM12997678300658
HP:0000407HP:0008625Severe sensorineural hearing impairment1NDP CL E G H4693310600Atrophia bulborum hereditaria310600C0266526OMIM12997678300658
HP:0000407HP:0000410Mixed hearing impairment1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0000407HP:0008527Congenital sensorineural hearing impairment1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0000407HP:0008587Mild neurosensory hearing impairment1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0000407HP:0008504Moderate sensorineural hearing impairment1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0000407HP:0011476Profound sensorineural hearing impairment1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0000407HP:0000408Progressive sensorineural hearing impairment1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0000407HP:0008625Severe sensorineural hearing impairment1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0000407HP:0000410Mixed hearing impairment1NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12167745604043
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12167745604043
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12167745604043
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12167745604043
HP:0000407HP:0008527Congenital sensorineural hearing impairment1NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12167745604043
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12167745604043
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12167745604043
HP:0000407HP:0008587Mild neurosensory hearing impairment1NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12167745604043
HP:0000407HP:0008504Moderate sensorineural hearing impairment1NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12167745604043
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12167745604043
HP:0000407HP:0011476Profound sensorineural hearing impairment1NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12167745604043
HP:0000407HP:0000408Progressive sensorineural hearing impairment1NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12167745604043
HP:0000407HP:0008625Severe sensorineural hearing impairment1NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12167745604043
HP:0000407HP:0000410Mixed hearing impairment1NEU1 CL E G H4758812ORPHA11857758608272
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1NEU1 CL E G H4758812ORPHA11857758608272
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1NEU1 CL E G H4758812ORPHA11857758608272
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1NEU1 CL E G H4758812ORPHA11857758608272
HP:0000407HP:0008527Congenital sensorineural hearing impairment1NEU1 CL E G H4758812ORPHA11857758608272
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1NEU1 CL E G H4758812ORPHA11857758608272
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1NEU1 CL E G H4758812ORPHA11857758608272
HP:0000407HP:0008587Mild neurosensory hearing impairment1NEU1 CL E G H4758812ORPHA11857758608272
HP:0000407HP:0008504Moderate sensorineural hearing impairment1NEU1 CL E G H4758812ORPHA11857758608272
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1NEU1 CL E G H4758812ORPHA11857758608272
HP:0000407HP:0011476Profound sensorineural hearing impairment1NEU1 CL E G H4758812ORPHA11857758608272
HP:0000407HP:0000408Progressive sensorineural hearing impairment1NEU1 CL E G H4758812ORPHA11857758608272
HP:0000407HP:0008625Severe sensorineural hearing impairment1NEU1 CL E G H4758812ORPHA11857758608272
HP:0000407HP:0000410Mixed hearing impairment1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0000407HP:0008527Congenital sensorineural hearing impairment1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0000407HP:0008587Mild neurosensory hearing impairment1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0000407HP:0008504Moderate sensorineural hearing impairment1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0000407HP:0011476Profound sensorineural hearing impairment1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0000407HP:0000408Progressive sensorineural hearing impairment1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0000407HP:0008625Severe sensorineural hearing impairment1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0000407HP:0000410Mixed hearing impairment1NF2 CL E G H4771637ORPHA117837773607379
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1NF2 CL E G H4771637ORPHA117837773607379
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1NF2 CL E G H4771637ORPHA117837773607379
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1NF2 CL E G H4771637ORPHA117837773607379
HP:0000407HP:0008527Congenital sensorineural hearing impairment1NF2 CL E G H4771637ORPHA117837773607379
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1NF2 CL E G H4771637ORPHA117837773607379
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1NF2 CL E G H4771637ORPHA117837773607379
HP:0000407HP:0008587Mild neurosensory hearing impairment1NF2 CL E G H4771637ORPHA117837773607379
HP:0000407HP:0008504Moderate sensorineural hearing impairment1NF2 CL E G H4771637ORPHA117837773607379
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1NF2 CL E G H4771637ORPHA117837773607379
HP:0000407HP:0011476Profound sensorineural hearing impairment1NF2 CL E G H4771637ORPHA117837773607379
HP:0000407HP:0000408Progressive sensorineural hearing impairment1NF2 CL E G H4771637ORPHA117837773607379
HP:0000407HP:0008625Severe sensorineural hearing impairment1NF2 CL E G H4771637ORPHA117837773607379
HP:0000407HP:0000410Mixed hearing impairment1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0000407HP:0008527Congenital sensorineural hearing impairment1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0000407HP:0008587Mild neurosensory hearing impairment1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0000407HP:0008504Moderate sensorineural hearing impairment1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0000407HP:0011476Profound sensorineural hearing impairment1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0000407HP:0000408Progressive sensorineural hearing impairment1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0000407HP:0008625Severe sensorineural hearing impairment1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0000407HP:0000410Mixed hearing impairment1NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0000407HP:0008527Congenital sensorineural hearing impairment1NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0000407HP:0008587Mild neurosensory hearing impairment1NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0000407HP:0008504Moderate sensorineural hearing impairment1NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0000407HP:0011476Profound sensorineural hearing impairment1NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0000407HP:0000408Progressive sensorineural hearing impairment1NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0000407HP:0008625Severe sensorineural hearing impairment1NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0000407HP:0000410Mixed hearing impairment1NLRC4 CL E G H584841451ORPHA164316412606831
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1NLRC4 CL E G H584841451ORPHA164316412606831
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1NLRC4 CL E G H584841451ORPHA164316412606831
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1NLRC4 CL E G H584841451ORPHA164316412606831
HP:0000407HP:0008527Congenital sensorineural hearing impairment1NLRC4 CL E G H584841451ORPHA164316412606831
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1NLRC4 CL E G H584841451ORPHA164316412606831
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1NLRC4 CL E G H584841451ORPHA164316412606831
HP:0000407HP:0008587Mild neurosensory hearing impairment1NLRC4 CL E G H584841451ORPHA164316412606831
HP:0000407HP:0008504Moderate sensorineural hearing impairment1NLRC4 CL E G H584841451ORPHA164316412606831
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1NLRC4 CL E G H584841451ORPHA164316412606831
HP:0000407HP:0011476Profound sensorineural hearing impairment1NLRC4 CL E G H584841451ORPHA164316412606831
HP:0000407HP:0000408Progressive sensorineural hearing impairment1NLRC4 CL E G H584841451ORPHA164316412606831
HP:0000407HP:0008625Severe sensorineural hearing impairment1NLRC4 CL E G H584841451ORPHA164316412606831
HP:0000407HP:0000410Mixed hearing impairment1NLRP12 CL E G H91662611762Familial cold autoinflammatory syndrome 2611762C2673198OMIM1103622938609648
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1NLRP12 CL E G H91662611762Familial cold autoinflammatory syndrome 2611762C2673198OMIM1103622938609648
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1NLRP12 CL E G H91662611762Familial cold autoinflammatory syndrome 2611762C2673198OMIM1103622938609648
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1NLRP12 CL E G H91662611762Familial cold autoinflammatory syndrome 2611762C2673198OMIM1103622938609648
HP:0000407HP:0008527Congenital sensorineural hearing impairment1NLRP12 CL E G H91662611762Familial cold autoinflammatory syndrome 2611762C2673198OMIM1103622938609648
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1NLRP12 CL E G H91662611762Familial cold autoinflammatory syndrome 2611762C2673198OMIM1103622938609648
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1NLRP12 CL E G H91662611762Familial cold autoinflammatory syndrome 2611762C2673198OMIM1103622938609648
HP:0000407HP:0008587Mild neurosensory hearing impairment1NLRP12 CL E G H91662611762Familial cold autoinflammatory syndrome 2611762C2673198OMIM1103622938609648
HP:0000407HP:0008504Moderate sensorineural hearing impairment1NLRP12 CL E G H91662611762Familial cold autoinflammatory syndrome 2611762C2673198OMIM1103622938609648
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1NLRP12 CL E G H91662611762Familial cold autoinflammatory syndrome 2611762C2673198OMIM1103622938609648
HP:0000407HP:0011476Profound sensorineural hearing impairment1NLRP12 CL E G H91662611762Familial cold autoinflammatory syndrome 2611762C2673198OMIM1103622938609648
HP:0000407HP:0000408Progressive sensorineural hearing impairment1NLRP12 CL E G H91662611762Familial cold autoinflammatory syndrome 2611762C2673198OMIM1103622938609648
HP:0000407HP:0008625Severe sensorineural hearing impairment1NLRP12 CL E G H91662611762Familial cold autoinflammatory syndrome 2611762C2673198OMIM1103622938609648
HP:0000407HP:0000410Mixed hearing impairment1NLRP3 CL E G H1145481451ORPHA191716400606416
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1NLRP3 CL E G H1145481451ORPHA191716400606416
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1NLRP3 CL E G H1145481451ORPHA191716400606416
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1NLRP3 CL E G H1145481451ORPHA191716400606416
HP:0000407HP:0008527Congenital sensorineural hearing impairment1NLRP3 CL E G H1145481451ORPHA191716400606416
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1NLRP3 CL E G H1145481451ORPHA191716400606416
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1NLRP3 CL E G H1145481451ORPHA191716400606416
HP:0000407HP:0008587Mild neurosensory hearing impairment1NLRP3 CL E G H1145481451ORPHA191716400606416
HP:0000407HP:0008504Moderate sensorineural hearing impairment1NLRP3 CL E G H1145481451ORPHA191716400606416
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1NLRP3 CL E G H1145481451ORPHA191716400606416
HP:0000407HP:0011476Profound sensorineural hearing impairment1NLRP3 CL E G H1145481451ORPHA191716400606416
HP:0000407HP:0000408Progressive sensorineural hearing impairment1NLRP3 CL E G H1145481451ORPHA191716400606416
HP:0000407HP:0008625Severe sensorineural hearing impairment1NLRP3 CL E G H1145481451ORPHA191716400606416
HP:0000407HP:0000410Mixed hearing impairment1NOG CL E G H92413250ORPHA11337866602991
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1NOG CL E G H92413250ORPHA11337866602991
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1NOG CL E G H92413250ORPHA11337866602991
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1NOG CL E G H92413250ORPHA11337866602991
HP:0000407HP:0008527Congenital sensorineural hearing impairment1NOG CL E G H92413250ORPHA11337866602991
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1NOG CL E G H92413250ORPHA11337866602991
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1NOG CL E G H92413250ORPHA11337866602991
HP:0000407HP:0008587Mild neurosensory hearing impairment1NOG CL E G H92413250ORPHA11337866602991
HP:0000407HP:0008504Moderate sensorineural hearing impairment1NOG CL E G H92413250ORPHA11337866602991
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1NOG CL E G H92413250ORPHA11337866602991
HP:0000407HP:0011476Profound sensorineural hearing impairment1NOG CL E G H92413250ORPHA11337866602991
HP:0000407HP:0000408Progressive sensorineural hearing impairment1NOG CL E G H92413250ORPHA11337866602991
HP:0000407HP:0008625Severe sensorineural hearing impairment1NOG CL E G H92413250ORPHA11337866602991
HP:0000407HP:0000410Mixed hearing impairment1NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16077974604485
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16077974604485
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16077974604485
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16077974604485
HP:0000407HP:0008527Congenital sensorineural hearing impairment1NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16077974604485
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16077974604485
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16077974604485
HP:0000407HP:0008587Mild neurosensory hearing impairment1NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16077974604485
HP:0000407HP:0008504Moderate sensorineural hearing impairment1NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16077974604485
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16077974604485
HP:0000407HP:0011476Profound sensorineural hearing impairment1NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16077974604485
HP:0000407HP:0000408Progressive sensorineural hearing impairment1NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16077974604485
HP:0000407HP:0008625Severe sensorineural hearing impairment1NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16077974604485
HP:0000407HP:0000410Mixed hearing impairment1NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM12817989164790
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM12817989164790
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM12817989164790
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM12817989164790
HP:0000407HP:0008527Congenital sensorineural hearing impairment1NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM12817989164790
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM12817989164790
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM12817989164790
HP:0000407HP:0008587Mild neurosensory hearing impairment1NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM12817989164790
HP:0000407HP:0008504Moderate sensorineural hearing impairment1NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM12817989164790
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM12817989164790
HP:0000407HP:0011476Profound sensorineural hearing impairment1NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM12817989164790
HP:0000407HP:0000408Progressive sensorineural hearing impairment1NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM12817989164790
HP:0000407HP:0008625Severe sensorineural hearing impairment1NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM12817989164790
HP:0000407HP:0000410Mixed hearing impairment1NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13588002162080
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13588002162080
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13588002162080
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13588002162080
HP:0000407HP:0008527Congenital sensorineural hearing impairment1NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13588002162080
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13588002162080
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13588002162080
HP:0000407HP:0008587Mild neurosensory hearing impairment1NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13588002162080
HP:0000407HP:0008504Moderate sensorineural hearing impairment1NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13588002162080
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13588002162080
HP:0000407HP:0011476Profound sensorineural hearing impairment1NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13588002162080
HP:0000407HP:0000408Progressive sensorineural hearing impairment1NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13588002162080
HP:0000407HP:0008625Severe sensorineural hearing impairment1NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13588002162080
HP:0000407HP:0000410Mixed hearing impairment1OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110202567300170
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110202567300170
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110202567300170
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110202567300170
HP:0000407HP:0008527Congenital sensorineural hearing impairment1OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110202567300170
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110202567300170
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110202567300170
HP:0000407HP:0008587Mild neurosensory hearing impairment1OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110202567300170
HP:0000407HP:0008504Moderate sensorineural hearing impairment1OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110202567300170
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110202567300170
HP:0000407HP:0011476Profound sensorineural hearing impairment1OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110202567300170
HP:0000407HP:0000408Progressive sensorineural hearing impairment1OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110202567300170
HP:0000407HP:0008625Severe sensorineural hearing impairment1OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110202567300170
HP:0000407HP:0000410Mixed hearing impairment1OPA1 CL E G H49761215Cerebro reno digital syndromeORPHA112248140605290
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1OPA1 CL E G H49761215Cerebro reno digital syndromeORPHA112248140605290
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1OPA1 CL E G H49761215Cerebro reno digital syndromeORPHA112248140605290
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1OPA1 CL E G H49761215Cerebro reno digital syndromeORPHA112248140605290
HP:0000407HP:0008527Congenital sensorineural hearing impairment1OPA1 CL E G H49761215Cerebro reno digital syndromeORPHA112248140605290
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1OPA1 CL E G H49761215Cerebro reno digital syndromeORPHA112248140605290
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1OPA1 CL E G H49761215Cerebro reno digital syndromeORPHA112248140605290
HP:0000407HP:0008587Mild neurosensory hearing impairment1OPA1 CL E G H49761215Cerebro reno digital syndromeORPHA112248140605290
HP:0000407HP:0008504Moderate sensorineural hearing impairment1OPA1 CL E G H49761215Cerebro reno digital syndromeORPHA112248140605290
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1OPA1 CL E G H49761215Cerebro reno digital syndromeORPHA112248140605290
HP:0000407HP:0011476Profound sensorineural hearing impairment1OPA1 CL E G H49761215Cerebro reno digital syndromeORPHA112248140605290
HP:0000407HP:0000408Progressive sensorineural hearing impairment1OPA1 CL E G H49761215Cerebro reno digital syndromeORPHA112248140605290
HP:0000407HP:0008625Severe sensorineural hearing impairment1OPA1 CL E G H49761215Cerebro reno digital syndromeORPHA112248140605290
HP:0000407HP:0000410Mixed hearing impairment1OPA1 CL E G H4976616896Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)616896C4225163OMIM112248140605290
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1OPA1 CL E G H4976616896Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)616896C4225163OMIM112248140605290
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1OPA1 CL E G H4976616896Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)616896C4225163OMIM112248140605290
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1OPA1 CL E G H4976616896Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)616896C4225163OMIM112248140605290
HP:0000407HP:0008527Congenital sensorineural hearing impairment1OPA1 CL E G H4976616896Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)616896C4225163OMIM112248140605290
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1OPA1 CL E G H4976616896Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)616896C4225163OMIM112248140605290
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1OPA1 CL E G H4976616896Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)616896C4225163OMIM112248140605290
HP:0000407HP:0008587Mild neurosensory hearing impairment1OPA1 CL E G H4976616896Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)616896C4225163OMIM112248140605290
HP:0000407HP:0008504Moderate sensorineural hearing impairment1OPA1 CL E G H4976616896Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)616896C4225163OMIM112248140605290
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1OPA1 CL E G H4976616896Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)616896C4225163OMIM112248140605290
HP:0000407HP:0011476Profound sensorineural hearing impairment1OPA1 CL E G H4976616896Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)616896C4225163OMIM112248140605290
HP:0000407HP:0000408Progressive sensorineural hearing impairment1OPA1 CL E G H4976616896Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)616896C4225163OMIM112248140605290
HP:0000407HP:0008625Severe sensorineural hearing impairment1OPA1 CL E G H4976616896Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)616896C4225163OMIM112248140605290
HP:0000407HP:0000410Mixed hearing impairment1OSBPL2 CL E G H9885616340Deafness, autosomal dominant 67616340C4084712OMIM121315761606731
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1OSBPL2 CL E G H9885616340Deafness, autosomal dominant 67616340C4084712OMIM121315761606731
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1OSBPL2 CL E G H9885616340Deafness, autosomal dominant 67616340C4084712OMIM121315761606731
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1OSBPL2 CL E G H9885616340Deafness, autosomal dominant 67616340C4084712OMIM121315761606731
HP:0000407HP:0008527Congenital sensorineural hearing impairment1OSBPL2 CL E G H9885616340Deafness, autosomal dominant 67616340C4084712OMIM121315761606731
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1OSBPL2 CL E G H9885616340Deafness, autosomal dominant 67616340C4084712OMIM121315761606731
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1OSBPL2 CL E G H9885616340Deafness, autosomal dominant 67616340C4084712OMIM121315761606731
HP:0000407HP:0008587Mild neurosensory hearing impairment1OSBPL2 CL E G H9885616340Deafness, autosomal dominant 67616340C4084712OMIM121315761606731
HP:0000407HP:0008504Moderate sensorineural hearing impairment1OSBPL2 CL E G H9885616340Deafness, autosomal dominant 67616340C4084712OMIM121315761606731
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1OSBPL2 CL E G H9885616340Deafness, autosomal dominant 67616340C4084712OMIM121315761606731
HP:0000407HP:0011476Profound sensorineural hearing impairment1OSBPL2 CL E G H9885616340Deafness, autosomal dominant 67616340C4084712OMIM121315761606731
HP:0000407HP:0000408Progressive sensorineural hearing impairment1OSBPL2 CL E G H9885616340Deafness, autosomal dominant 67616340C4084712OMIM121315761606731
HP:0000407HP:0008625Severe sensorineural hearing impairment1OSBPL2 CL E G H9885616340Deafness, autosomal dominant 67616340C4084712OMIM121315761606731
HP:0000407HP:0000410Mixed hearing impairment1OTOA CL E G H146183607039Deafness, autosomal recessive 22607039C1846896OMIM144616378607038
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1OTOA CL E G H146183607039Deafness, autosomal recessive 22607039C1846896OMIM144616378607038
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1OTOA CL E G H146183607039Deafness, autosomal recessive 22607039C1846896OMIM144616378607038
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1OTOA CL E G H146183607039Deafness, autosomal recessive 22607039C1846896OMIM144616378607038
HP:0000407HP:0008527Congenital sensorineural hearing impairment1OTOA CL E G H146183607039Deafness, autosomal recessive 22607039C1846896OMIM144616378607038
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1OTOA CL E G H146183607039Deafness, autosomal recessive 22607039C1846896OMIM144616378607038
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1OTOA CL E G H146183607039Deafness, autosomal recessive 22607039C1846896OMIM144616378607038
HP:0000407HP:0008587Mild neurosensory hearing impairment1OTOA CL E G H146183607039Deafness, autosomal recessive 22607039C1846896OMIM144616378607038
HP:0000407HP:0008504Moderate sensorineural hearing impairment1OTOA CL E G H146183607039Deafness, autosomal recessive 22607039C1846896OMIM144616378607038
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1OTOA CL E G H146183607039Deafness, autosomal recessive 22607039C1846896OMIM144616378607038
HP:0000407HP:0011476Profound sensorineural hearing impairment1OTOA CL E G H146183607039Deafness, autosomal recessive 22607039C1846896OMIM144616378607038
HP:0000407HP:0000408Progressive sensorineural hearing impairment1OTOA CL E G H146183607039Deafness, autosomal recessive 22607039C1846896OMIM144616378607038
HP:0000407HP:0008625Severe sensorineural hearing impairment1OTOA CL E G H146183607039Deafness, autosomal recessive 22607039C1846896OMIM144616378607038
HP:0000407HP:0000410Mixed hearing impairment1OTOF CL E G H9381601071Deafness, autosomal recessive 9601071C1832828OMIM111298515603681
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1OTOF CL E G H9381601071Deafness, autosomal recessive 9601071C1832828OMIM111298515603681
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1OTOF CL E G H9381601071Deafness, autosomal recessive 9601071C1832828OMIM111298515603681
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1OTOF CL E G H9381601071Deafness, autosomal recessive 9601071C1832828OMIM111298515603681
HP:0000407HP:0008527Congenital sensorineural hearing impairment1OTOF CL E G H9381601071Deafness, autosomal recessive 9601071C1832828OMIM111298515603681
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1OTOF CL E G H9381601071Deafness, autosomal recessive 9601071C1832828OMIM111298515603681
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1OTOF CL E G H9381601071Deafness, autosomal recessive 9601071C1832828OMIM111298515603681
HP:0000407HP:0008587Mild neurosensory hearing impairment1OTOF CL E G H9381601071Deafness, autosomal recessive 9601071C1832828OMIM111298515603681
HP:0000407HP:0008504Moderate sensorineural hearing impairment1OTOF CL E G H9381601071Deafness, autosomal recessive 9601071C1832828OMIM111298515603681
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1OTOF CL E G H9381601071Deafness, autosomal recessive 9601071C1832828OMIM111298515603681
HP:0000407HP:0011476Profound sensorineural hearing impairment1OTOF CL E G H9381601071Deafness, autosomal recessive 9601071C1832828OMIM111298515603681
HP:0000407HP:0000408Progressive sensorineural hearing impairment1OTOF CL E G H9381601071Deafness, autosomal recessive 9601071C1832828OMIM111298515603681
HP:0000407HP:0008625Severe sensorineural hearing impairment1OTOF CL E G H9381601071Deafness, autosomal recessive 9601071C1832828OMIM111298515603681
HP:0000407HP:0000410Mixed hearing impairment1PAX2 CL E G H5076120330Renal coloboma syndrome120330C1852759OMIM14068616167409
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PAX2 CL E G H5076120330Renal coloboma syndrome120330C1852759OMIM14068616167409
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PAX2 CL E G H5076120330Renal coloboma syndrome120330C1852759OMIM14068616167409
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PAX2 CL E G H5076120330Renal coloboma syndrome120330C1852759OMIM14068616167409
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PAX2 CL E G H5076120330Renal coloboma syndrome120330C1852759OMIM14068616167409
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PAX2 CL E G H5076120330Renal coloboma syndrome120330C1852759OMIM14068616167409
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PAX2 CL E G H5076120330Renal coloboma syndrome120330C1852759OMIM14068616167409
HP:0000407HP:0008587Mild neurosensory hearing impairment1PAX2 CL E G H5076120330Renal coloboma syndrome120330C1852759OMIM14068616167409
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PAX2 CL E G H5076120330Renal coloboma syndrome120330C1852759OMIM14068616167409
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PAX2 CL E G H5076120330Renal coloboma syndrome120330C1852759OMIM14068616167409
HP:0000407HP:0011476Profound sensorineural hearing impairment1PAX2 CL E G H5076120330Renal coloboma syndrome120330C1852759OMIM14068616167409
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PAX2 CL E G H5076120330Renal coloboma syndrome120330C1852759OMIM14068616167409
HP:0000407HP:0008625Severe sensorineural hearing impairment1PAX2 CL E G H5076120330Renal coloboma syndrome120330C1852759OMIM14068616167409
HP:0000407HP:0000410Mixed hearing impairment1PAX3 CL E G H50771529ORPHA13388617606597
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PAX3 CL E G H50771529ORPHA13388617606597
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PAX3 CL E G H50771529ORPHA13388617606597
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PAX3 CL E G H50771529ORPHA13388617606597
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PAX3 CL E G H50771529ORPHA13388617606597
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PAX3 CL E G H50771529ORPHA13388617606597
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PAX3 CL E G H50771529ORPHA13388617606597
HP:0000407HP:0008587Mild neurosensory hearing impairment1PAX3 CL E G H50771529ORPHA13388617606597
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PAX3 CL E G H50771529ORPHA13388617606597
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PAX3 CL E G H50771529ORPHA13388617606597
HP:0000407HP:0011476Profound sensorineural hearing impairment1PAX3 CL E G H50771529ORPHA13388617606597
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PAX3 CL E G H50771529ORPHA13388617606597
HP:0000407HP:0008625Severe sensorineural hearing impairment1PAX3 CL E G H50771529ORPHA13388617606597
HP:0000407HP:0000410Mixed hearing impairment1PAX3 CL E G H5077122880Craniofacial deafness hand syndrome122880C1852510OMIM13388617606597
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PAX3 CL E G H5077122880Craniofacial deafness hand syndrome122880C1852510OMIM13388617606597
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PAX3 CL E G H5077122880Craniofacial deafness hand syndrome122880C1852510OMIM13388617606597
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PAX3 CL E G H5077122880Craniofacial deafness hand syndrome122880C1852510OMIM13388617606597
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PAX3 CL E G H5077122880Craniofacial deafness hand syndrome122880C1852510OMIM13388617606597
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PAX3 CL E G H5077122880Craniofacial deafness hand syndrome122880C1852510OMIM13388617606597
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PAX3 CL E G H5077122880Craniofacial deafness hand syndrome122880C1852510OMIM13388617606597
HP:0000407HP:0008587Mild neurosensory hearing impairment1PAX3 CL E G H5077122880Craniofacial deafness hand syndrome122880C1852510OMIM13388617606597
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PAX3 CL E G H5077122880Craniofacial deafness hand syndrome122880C1852510OMIM13388617606597
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PAX3 CL E G H5077122880Craniofacial deafness hand syndrome122880C1852510OMIM13388617606597
HP:0000407HP:0011476Profound sensorineural hearing impairment1PAX3 CL E G H5077122880Craniofacial deafness hand syndrome122880C1852510OMIM13388617606597
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PAX3 CL E G H5077122880Craniofacial deafness hand syndrome122880C1852510OMIM13388617606597
HP:0000407HP:0008625Severe sensorineural hearing impairment1PAX3 CL E G H5077122880Craniofacial deafness hand syndrome122880C1852510OMIM13388617606597
HP:0000407HP:0000410Mixed hearing impairment1PAX3 CL E G H5077148820Klein-Waardenberg's syndrome148820C0342680OMIM13388617606597
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PAX3 CL E G H5077148820Klein-Waardenberg's syndrome148820C0342680OMIM13388617606597
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PAX3 CL E G H5077148820Klein-Waardenberg's syndrome148820C0342680OMIM13388617606597
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PAX3 CL E G H5077148820Klein-Waardenberg's syndrome148820C0342680OMIM13388617606597
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PAX3 CL E G H5077148820Klein-Waardenberg's syndrome148820C0342680OMIM13388617606597
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PAX3 CL E G H5077148820Klein-Waardenberg's syndrome148820C0342680OMIM13388617606597
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PAX3 CL E G H5077148820Klein-Waardenberg's syndrome148820C0342680OMIM13388617606597
HP:0000407HP:0008587Mild neurosensory hearing impairment1PAX3 CL E G H5077148820Klein-Waardenberg's syndrome148820C0342680OMIM13388617606597
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PAX3 CL E G H5077148820Klein-Waardenberg's syndrome148820C0342680OMIM13388617606597
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PAX3 CL E G H5077148820Klein-Waardenberg's syndrome148820C0342680OMIM13388617606597
HP:0000407HP:0011476Profound sensorineural hearing impairment1PAX3 CL E G H5077148820Klein-Waardenberg's syndrome148820C0342680OMIM13388617606597
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PAX3 CL E G H5077148820Klein-Waardenberg's syndrome148820C0342680OMIM13388617606597
HP:0000407HP:0008625Severe sensorineural hearing impairment1PAX3 CL E G H5077148820Klein-Waardenberg's syndrome148820C0342680OMIM13388617606597
HP:0000407HP:0000410Mixed hearing impairment1PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1102234383613425
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1102234383613425
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1102234383613425
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1102234383613425
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1102234383613425
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1102234383613425
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1102234383613425
HP:0000407HP:0008587Mild neurosensory hearing impairment1PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1102234383613425
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1102234383613425
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1102234383613425
HP:0000407HP:0011476Profound sensorineural hearing impairment1PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1102234383613425
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1102234383613425
HP:0000407HP:0008625Severe sensorineural hearing impairment1PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1102234383613425
HP:0000407HP:0000410Mixed hearing impairment1PCDH15 CL E G H65217231169ORPHA1291714674605514
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PCDH15 CL E G H65217231169ORPHA1291714674605514
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PCDH15 CL E G H65217231169ORPHA1291714674605514
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PCDH15 CL E G H65217231169ORPHA1291714674605514
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PCDH15 CL E G H65217231169ORPHA1291714674605514
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PCDH15 CL E G H65217231169ORPHA1291714674605514
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PCDH15 CL E G H65217231169ORPHA1291714674605514
HP:0000407HP:0008587Mild neurosensory hearing impairment1PCDH15 CL E G H65217231169ORPHA1291714674605514
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PCDH15 CL E G H65217231169ORPHA1291714674605514
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PCDH15 CL E G H65217231169ORPHA1291714674605514
HP:0000407HP:0011476Profound sensorineural hearing impairment1PCDH15 CL E G H65217231169ORPHA1291714674605514
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PCDH15 CL E G H65217231169ORPHA1291714674605514
HP:0000407HP:0008625Severe sensorineural hearing impairment1PCDH15 CL E G H65217231169ORPHA1291714674605514
HP:0000407HP:0000410Mixed hearing impairment1PCDH15 CL E G H65217609533Deafness, autosomal recessive 23609533C1836027OMIM1291714674605514
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PCDH15 CL E G H65217609533Deafness, autosomal recessive 23609533C1836027OMIM1291714674605514
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PCDH15 CL E G H65217609533Deafness, autosomal recessive 23609533C1836027OMIM1291714674605514
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PCDH15 CL E G H65217609533Deafness, autosomal recessive 23609533C1836027OMIM1291714674605514
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PCDH15 CL E G H65217609533Deafness, autosomal recessive 23609533C1836027OMIM1291714674605514
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PCDH15 CL E G H65217609533Deafness, autosomal recessive 23609533C1836027OMIM1291714674605514
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PCDH15 CL E G H65217609533Deafness, autosomal recessive 23609533C1836027OMIM1291714674605514
HP:0000407HP:0008587Mild neurosensory hearing impairment1PCDH15 CL E G H65217609533Deafness, autosomal recessive 23609533C1836027OMIM1291714674605514
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PCDH15 CL E G H65217609533Deafness, autosomal recessive 23609533C1836027OMIM1291714674605514
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PCDH15 CL E G H65217609533Deafness, autosomal recessive 23609533C1836027OMIM1291714674605514
HP:0000407HP:0011476Profound sensorineural hearing impairment1PCDH15 CL E G H65217609533Deafness, autosomal recessive 23609533C1836027OMIM1291714674605514
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PCDH15 CL E G H65217609533Deafness, autosomal recessive 23609533C1836027OMIM1291714674605514
HP:0000407HP:0008625Severe sensorineural hearing impairment1PCDH15 CL E G H65217609533Deafness, autosomal recessive 23609533C1836027OMIM1291714674605514
HP:0000407HP:0000410Mixed hearing impairment1PCNT CL E G H51162637HemimegalencephalyORPHA1200116068605925
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PCNT CL E G H51162637HemimegalencephalyORPHA1200116068605925
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PCNT CL E G H51162637HemimegalencephalyORPHA1200116068605925
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PCNT CL E G H51162637HemimegalencephalyORPHA1200116068605925
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PCNT CL E G H51162637HemimegalencephalyORPHA1200116068605925
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PCNT CL E G H51162637HemimegalencephalyORPHA1200116068605925
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PCNT CL E G H51162637HemimegalencephalyORPHA1200116068605925
HP:0000407HP:0008587Mild neurosensory hearing impairment1PCNT CL E G H51162637HemimegalencephalyORPHA1200116068605925
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PCNT CL E G H51162637HemimegalencephalyORPHA1200116068605925
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PCNT CL E G H51162637HemimegalencephalyORPHA1200116068605925
HP:0000407HP:0011476Profound sensorineural hearing impairment1PCNT CL E G H51162637HemimegalencephalyORPHA1200116068605925
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PCNT CL E G H51162637HemimegalencephalyORPHA1200116068605925
HP:0000407HP:0008625Severe sensorineural hearing impairment1PCNT CL E G H51162637HemimegalencephalyORPHA1200116068605925
HP:0000407HP:0000410Mixed hearing impairment1PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18348785180071
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18348785180071
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18348785180071
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18348785180071
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18348785180071
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18348785180071
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18348785180071
HP:0000407HP:0008587Mild neurosensory hearing impairment1PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18348785180071
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18348785180071
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18348785180071
HP:0000407HP:0011476Profound sensorineural hearing impairment1PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18348785180071
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18348785180071
HP:0000407HP:0008625Severe sensorineural hearing impairment1PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18348785180071
HP:0000407HP:0000410Mixed hearing impairment1PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111428786180072
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111428786180072
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111428786180072
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111428786180072
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111428786180072
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111428786180072
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111428786180072
HP:0000407HP:0008587Mild neurosensory hearing impairment1PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111428786180072
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111428786180072
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111428786180072
HP:0000407HP:0011476Profound sensorineural hearing impairment1PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111428786180072
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111428786180072
HP:0000407HP:0008625Severe sensorineural hearing impairment1PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111428786180072
HP:0000407HP:0000410Mixed hearing impairment1PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11258789180073
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11258789180073
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11258789180073
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11258789180073
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11258789180073
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11258789180073
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11258789180073
HP:0000407HP:0008587Mild neurosensory hearing impairment1PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11258789180073
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11258789180073
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11258789180073
HP:0000407HP:0011476Profound sensorineural hearing impairment1PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11258789180073
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11258789180073
HP:0000407HP:0008625Severe sensorineural hearing impairment1PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11258789180073
HP:0000407HP:0000410Mixed hearing impairment1PDGFRB CL E G H5159601812Premature aging syndrome, Penttinen type601812C1866182OMIM15318804173410
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PDGFRB CL E G H5159601812Premature aging syndrome, Penttinen type601812C1866182OMIM15318804173410
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PDGFRB CL E G H5159601812Premature aging syndrome, Penttinen type601812C1866182OMIM15318804173410
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PDGFRB CL E G H5159601812Premature aging syndrome, Penttinen type601812C1866182OMIM15318804173410
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PDGFRB CL E G H5159601812Premature aging syndrome, Penttinen type601812C1866182OMIM15318804173410
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PDGFRB CL E G H5159601812Premature aging syndrome, Penttinen type601812C1866182OMIM15318804173410
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PDGFRB CL E G H5159601812Premature aging syndrome, Penttinen type601812C1866182OMIM15318804173410
HP:0000407HP:0008587Mild neurosensory hearing impairment1PDGFRB CL E G H5159601812Premature aging syndrome, Penttinen type601812C1866182OMIM15318804173410
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PDGFRB CL E G H5159601812Premature aging syndrome, Penttinen type601812C1866182OMIM15318804173410
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PDGFRB CL E G H5159601812Premature aging syndrome, Penttinen type601812C1866182OMIM15318804173410
HP:0000407HP:0011476Profound sensorineural hearing impairment1PDGFRB CL E G H5159601812Premature aging syndrome, Penttinen type601812C1866182OMIM15318804173410
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PDGFRB CL E G H5159601812Premature aging syndrome, Penttinen type601812C1866182OMIM15318804173410
HP:0000407HP:0008625Severe sensorineural hearing impairment1PDGFRB CL E G H5159601812Premature aging syndrome, Penttinen type601812C1866182OMIM15318804173410
HP:0000407HP:0000410Mixed hearing impairment1PDZD7 CL E G H79955231178ORPHA192726257612971
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PDZD7 CL E G H79955231178ORPHA192726257612971
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PDZD7 CL E G H79955231178ORPHA192726257612971
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PDZD7 CL E G H79955231178ORPHA192726257612971
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PDZD7 CL E G H79955231178ORPHA192726257612971
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PDZD7 CL E G H79955231178ORPHA192726257612971
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PDZD7 CL E G H79955231178ORPHA192726257612971
HP:0000407HP:0008587Mild neurosensory hearing impairment1PDZD7 CL E G H79955231178ORPHA192726257612971
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PDZD7 CL E G H79955231178ORPHA192726257612971
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PDZD7 CL E G H79955231178ORPHA192726257612971
HP:0000407HP:0011476Profound sensorineural hearing impairment1PDZD7 CL E G H79955231178ORPHA192726257612971
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PDZD7 CL E G H79955231178ORPHA192726257612971
HP:0000407HP:0008625Severe sensorineural hearing impairment1PDZD7 CL E G H79955231178ORPHA192726257612971
HP:0000407HP:0000410Mixed hearing impairment1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0000407HP:0008587Mild neurosensory hearing impairment1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0000407HP:0011476Profound sensorineural hearing impairment1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0000407HP:0008625Severe sensorineural hearing impairment1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0000407HP:0000410Mixed hearing impairment1PEX1 CL E G H5189772ORPHA115378850602136
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX1 CL E G H5189772ORPHA115378850602136
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX1 CL E G H5189772ORPHA115378850602136
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX1 CL E G H5189772ORPHA115378850602136
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX1 CL E G H5189772ORPHA115378850602136
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX1 CL E G H5189772ORPHA115378850602136
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX1 CL E G H5189772ORPHA115378850602136
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX1 CL E G H5189772ORPHA115378850602136
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX1 CL E G H5189772ORPHA115378850602136
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX1 CL E G H5189772ORPHA115378850602136
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX1 CL E G H5189772ORPHA115378850602136
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX1 CL E G H5189772ORPHA115378850602136
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX1 CL E G H5189772ORPHA115378850602136
HP:0000407HP:0000410Mixed hearing impairment1PEX1 CL E G H5189912ORPHA115378850602136
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX1 CL E G H5189912ORPHA115378850602136
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX1 CL E G H5189912ORPHA115378850602136
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX1 CL E G H5189912ORPHA115378850602136
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX1 CL E G H5189912ORPHA115378850602136
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX1 CL E G H5189912ORPHA115378850602136
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX1 CL E G H5189912ORPHA115378850602136
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX1 CL E G H5189912ORPHA115378850602136
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX1 CL E G H5189912ORPHA115378850602136
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX1 CL E G H5189912ORPHA115378850602136
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX1 CL E G H5189912ORPHA115378850602136
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX1 CL E G H5189912ORPHA115378850602136
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX1 CL E G H5189912ORPHA115378850602136
HP:0000407HP:0000410Mixed hearing impairment1PEX1 CL E G H51893220ORPHA115378850602136
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX1 CL E G H51893220ORPHA115378850602136
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX1 CL E G H51893220ORPHA115378850602136
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX1 CL E G H51893220ORPHA115378850602136
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX1 CL E G H51893220ORPHA115378850602136
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX1 CL E G H51893220ORPHA115378850602136
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX1 CL E G H51893220ORPHA115378850602136
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX1 CL E G H51893220ORPHA115378850602136
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX1 CL E G H51893220ORPHA115378850602136
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX1 CL E G H51893220ORPHA115378850602136
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX1 CL E G H51893220ORPHA115378850602136
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX1 CL E G H51893220ORPHA115378850602136
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX1 CL E G H51893220ORPHA115378850602136
HP:0000407HP:0000410Mixed hearing impairment1PEX1 CL E G H5189234580Deafness enamel hypoplasia nail defects234580C1856186OMIM115378850602136
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX1 CL E G H5189234580Deafness enamel hypoplasia nail defects234580C1856186OMIM115378850602136
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX1 CL E G H5189234580Deafness enamel hypoplasia nail defects234580C1856186OMIM115378850602136
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX1 CL E G H5189234580Deafness enamel hypoplasia nail defects234580C1856186OMIM115378850602136
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX1 CL E G H5189234580Deafness enamel hypoplasia nail defects234580C1856186OMIM115378850602136
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX1 CL E G H5189234580Deafness enamel hypoplasia nail defects234580C1856186OMIM115378850602136
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX1 CL E G H5189234580Deafness enamel hypoplasia nail defects234580C1856186OMIM115378850602136
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX1 CL E G H5189234580Deafness enamel hypoplasia nail defects234580C1856186OMIM115378850602136
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX1 CL E G H5189234580Deafness enamel hypoplasia nail defects234580C1856186OMIM115378850602136
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX1 CL E G H5189234580Deafness enamel hypoplasia nail defects234580C1856186OMIM115378850602136
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX1 CL E G H5189234580Deafness enamel hypoplasia nail defects234580C1856186OMIM115378850602136
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX1 CL E G H5189234580Deafness enamel hypoplasia nail defects234580C1856186OMIM115378850602136
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX1 CL E G H5189234580Deafness enamel hypoplasia nail defects234580C1856186OMIM115378850602136
HP:0000407HP:0000410Mixed hearing impairment1PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0000407HP:0000410Mixed hearing impairment1PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM115378850602136
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM115378850602136
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM115378850602136
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM115378850602136
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM115378850602136
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM115378850602136
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM115378850602136
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM115378850602136
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM115378850602136
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM115378850602136
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM115378850602136
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM115378850602136
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM115378850602136
HP:0000407HP:0000410Mixed hearing impairment1PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM115378850602136
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM115378850602136
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM115378850602136
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM115378850602136
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM115378850602136
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM115378850602136
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM115378850602136
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM115378850602136
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM115378850602136
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM115378850602136
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM115378850602136
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM115378850602136
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM115378850602136
HP:0000407HP:0000410Mixed hearing impairment1PEX10 CL E G H5192772ORPHA18038851602859
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX10 CL E G H5192772ORPHA18038851602859
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX10 CL E G H5192772ORPHA18038851602859
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX10 CL E G H5192772ORPHA18038851602859
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX10 CL E G H5192772ORPHA18038851602859
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX10 CL E G H5192772ORPHA18038851602859
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX10 CL E G H5192772ORPHA18038851602859
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX10 CL E G H5192772ORPHA18038851602859
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX10 CL E G H5192772ORPHA18038851602859
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX10 CL E G H5192772ORPHA18038851602859
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX10 CL E G H5192772ORPHA18038851602859
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX10 CL E G H5192772ORPHA18038851602859
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX10 CL E G H5192772ORPHA18038851602859
HP:0000407HP:0000410Mixed hearing impairment1PEX10 CL E G H5192912ORPHA18038851602859
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX10 CL E G H5192912ORPHA18038851602859
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX10 CL E G H5192912ORPHA18038851602859
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX10 CL E G H5192912ORPHA18038851602859
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX10 CL E G H5192912ORPHA18038851602859
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX10 CL E G H5192912ORPHA18038851602859
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX10 CL E G H5192912ORPHA18038851602859
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX10 CL E G H5192912ORPHA18038851602859
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX10 CL E G H5192912ORPHA18038851602859
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX10 CL E G H5192912ORPHA18038851602859
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX10 CL E G H5192912ORPHA18038851602859
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX10 CL E G H5192912ORPHA18038851602859
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX10 CL E G H5192912ORPHA18038851602859
HP:0000407HP:0000410Mixed hearing impairment1PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0000407HP:0000410Mixed hearing impairment1PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM18038851602859
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM18038851602859
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM18038851602859
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM18038851602859
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM18038851602859
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM18038851602859
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM18038851602859
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM18038851602859
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM18038851602859
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM18038851602859
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM18038851602859
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM18038851602859
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM18038851602859
HP:0000407HP:0000410Mixed hearing impairment1PEX11B CL E G H8799772ORPHA14158853603867
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX11B CL E G H8799772ORPHA14158853603867
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX11B CL E G H8799772ORPHA14158853603867
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX11B CL E G H8799772ORPHA14158853603867
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX11B CL E G H8799772ORPHA14158853603867
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX11B CL E G H8799772ORPHA14158853603867
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX11B CL E G H8799772ORPHA14158853603867
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX11B CL E G H8799772ORPHA14158853603867
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX11B CL E G H8799772ORPHA14158853603867
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX11B CL E G H8799772ORPHA14158853603867
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX11B CL E G H8799772ORPHA14158853603867
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX11B CL E G H8799772ORPHA14158853603867
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX11B CL E G H8799772ORPHA14158853603867
HP:0000407HP:0000410Mixed hearing impairment1PEX11B CL E G H8799912ORPHA14158853603867
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX11B CL E G H8799912ORPHA14158853603867
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX11B CL E G H8799912ORPHA14158853603867
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX11B CL E G H8799912ORPHA14158853603867
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX11B CL E G H8799912ORPHA14158853603867
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX11B CL E G H8799912ORPHA14158853603867
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX11B CL E G H8799912ORPHA14158853603867
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX11B CL E G H8799912ORPHA14158853603867
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX11B CL E G H8799912ORPHA14158853603867
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX11B CL E G H8799912ORPHA14158853603867
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX11B CL E G H8799912ORPHA14158853603867
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX11B CL E G H8799912ORPHA14158853603867
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX11B CL E G H8799912ORPHA14158853603867
HP:0000407HP:0000410Mixed hearing impairment1PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0000407HP:0000410Mixed hearing impairment1PEX12 CL E G H5193772ORPHA14598854601758
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX12 CL E G H5193772ORPHA14598854601758
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX12 CL E G H5193772ORPHA14598854601758
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX12 CL E G H5193772ORPHA14598854601758
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX12 CL E G H5193772ORPHA14598854601758
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX12 CL E G H5193772ORPHA14598854601758
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX12 CL E G H5193772ORPHA14598854601758
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX12 CL E G H5193772ORPHA14598854601758
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX12 CL E G H5193772ORPHA14598854601758
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX12 CL E G H5193772ORPHA14598854601758
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX12 CL E G H5193772ORPHA14598854601758
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX12 CL E G H5193772ORPHA14598854601758
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX12 CL E G H5193772ORPHA14598854601758
HP:0000407HP:0000410Mixed hearing impairment1PEX12 CL E G H5193912ORPHA14598854601758
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX12 CL E G H5193912ORPHA14598854601758
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX12 CL E G H5193912ORPHA14598854601758
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX12 CL E G H5193912ORPHA14598854601758
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX12 CL E G H5193912ORPHA14598854601758
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX12 CL E G H5193912ORPHA14598854601758
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX12 CL E G H5193912ORPHA14598854601758
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX12 CL E G H5193912ORPHA14598854601758
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX12 CL E G H5193912ORPHA14598854601758
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX12 CL E G H5193912ORPHA14598854601758
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX12 CL E G H5193912ORPHA14598854601758
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX12 CL E G H5193912ORPHA14598854601758
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX12 CL E G H5193912ORPHA14598854601758
HP:0000407HP:0000410Mixed hearing impairment1PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM14598854601758
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM14598854601758
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM14598854601758
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM14598854601758
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM14598854601758
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM14598854601758
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM14598854601758
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM14598854601758
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM14598854601758
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM14598854601758
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM14598854601758
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM14598854601758
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM14598854601758
HP:0000407HP:0000410Mixed hearing impairment1PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0000407HP:0000410Mixed hearing impairment1PEX13 CL E G H5194772ORPHA14978855601789
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX13 CL E G H5194772ORPHA14978855601789
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX13 CL E G H5194772ORPHA14978855601789
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX13 CL E G H5194772ORPHA14978855601789
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX13 CL E G H5194772ORPHA14978855601789
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX13 CL E G H5194772ORPHA14978855601789
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX13 CL E G H5194772ORPHA14978855601789
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX13 CL E G H5194772ORPHA14978855601789
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX13 CL E G H5194772ORPHA14978855601789
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX13 CL E G H5194772ORPHA14978855601789
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX13 CL E G H5194772ORPHA14978855601789
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX13 CL E G H5194772ORPHA14978855601789
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX13 CL E G H5194772ORPHA14978855601789
HP:0000407HP:0000410Mixed hearing impairment1PEX13 CL E G H5194912ORPHA14978855601789
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX13 CL E G H5194912ORPHA14978855601789
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX13 CL E G H5194912ORPHA14978855601789
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX13 CL E G H5194912ORPHA14978855601789
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX13 CL E G H5194912ORPHA14978855601789
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX13 CL E G H5194912ORPHA14978855601789
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX13 CL E G H5194912ORPHA14978855601789
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX13 CL E G H5194912ORPHA14978855601789
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX13 CL E G H5194912ORPHA14978855601789
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX13 CL E G H5194912ORPHA14978855601789
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX13 CL E G H5194912ORPHA14978855601789
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX13 CL E G H5194912ORPHA14978855601789
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX13 CL E G H5194912ORPHA14978855601789
HP:0000407HP:0000410Mixed hearing impairment1PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0000407HP:0000410Mixed hearing impairment1PEX14 CL E G H5195772ORPHA14748856601791
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX14 CL E G H5195772ORPHA14748856601791
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX14 CL E G H5195772ORPHA14748856601791
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX14 CL E G H5195772ORPHA14748856601791
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX14 CL E G H5195772ORPHA14748856601791
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX14 CL E G H5195772ORPHA14748856601791
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX14 CL E G H5195772ORPHA14748856601791
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX14 CL E G H5195772ORPHA14748856601791
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX14 CL E G H5195772ORPHA14748856601791
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX14 CL E G H5195772ORPHA14748856601791
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX14 CL E G H5195772ORPHA14748856601791
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX14 CL E G H5195772ORPHA14748856601791
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX14 CL E G H5195772ORPHA14748856601791
HP:0000407HP:0000410Mixed hearing impairment1PEX14 CL E G H5195912ORPHA14748856601791
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX14 CL E G H5195912ORPHA14748856601791
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX14 CL E G H5195912ORPHA14748856601791
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX14 CL E G H5195912ORPHA14748856601791
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX14 CL E G H5195912ORPHA14748856601791
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX14 CL E G H5195912ORPHA14748856601791
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX14 CL E G H5195912ORPHA14748856601791
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX14 CL E G H5195912ORPHA14748856601791
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX14 CL E G H5195912ORPHA14748856601791
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX14 CL E G H5195912ORPHA14748856601791
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX14 CL E G H5195912ORPHA14748856601791
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX14 CL E G H5195912ORPHA14748856601791
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX14 CL E G H5195912ORPHA14748856601791
HP:0000407HP:0000410Mixed hearing impairment1PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0000407HP:0000410Mixed hearing impairment1PEX16 CL E G H9409772ORPHA14708857603360
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX16 CL E G H9409772ORPHA14708857603360
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX16 CL E G H9409772ORPHA14708857603360
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX16 CL E G H9409772ORPHA14708857603360
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX16 CL E G H9409772ORPHA14708857603360
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX16 CL E G H9409772ORPHA14708857603360
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX16 CL E G H9409772ORPHA14708857603360
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX16 CL E G H9409772ORPHA14708857603360
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX16 CL E G H9409772ORPHA14708857603360
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX16 CL E G H9409772ORPHA14708857603360
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX16 CL E G H9409772ORPHA14708857603360
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX16 CL E G H9409772ORPHA14708857603360
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX16 CL E G H9409772ORPHA14708857603360
HP:0000407HP:0000410Mixed hearing impairment1PEX16 CL E G H9409912ORPHA14708857603360
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX16 CL E G H9409912ORPHA14708857603360
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX16 CL E G H9409912ORPHA14708857603360
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX16 CL E G H9409912ORPHA14708857603360
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX16 CL E G H9409912ORPHA14708857603360
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX16 CL E G H9409912ORPHA14708857603360
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX16 CL E G H9409912ORPHA14708857603360
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX16 CL E G H9409912ORPHA14708857603360
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX16 CL E G H9409912ORPHA14708857603360
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX16 CL E G H9409912ORPHA14708857603360
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX16 CL E G H9409912ORPHA14708857603360
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX16 CL E G H9409912ORPHA14708857603360
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX16 CL E G H9409912ORPHA14708857603360
HP:0000407HP:0000410Mixed hearing impairment1PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0000407HP:0000410Mixed hearing impairment1PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM14708857603360
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM14708857603360
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM14708857603360
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM14708857603360
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM14708857603360
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM14708857603360
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM14708857603360
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM14708857603360
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM14708857603360
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM14708857603360
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM14708857603360
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM14708857603360
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM14708857603360
HP:0000407HP:0000410Mixed hearing impairment1PEX19 CL E G H5824772ORPHA13799713600279
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX19 CL E G H5824772ORPHA13799713600279
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX19 CL E G H5824772ORPHA13799713600279
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX19 CL E G H5824772ORPHA13799713600279
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX19 CL E G H5824772ORPHA13799713600279
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX19 CL E G H5824772ORPHA13799713600279
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX19 CL E G H5824772ORPHA13799713600279
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX19 CL E G H5824772ORPHA13799713600279
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX19 CL E G H5824772ORPHA13799713600279
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX19 CL E G H5824772ORPHA13799713600279
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX19 CL E G H5824772ORPHA13799713600279
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX19 CL E G H5824772ORPHA13799713600279
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX19 CL E G H5824772ORPHA13799713600279
HP:0000407HP:0000410Mixed hearing impairment1PEX19 CL E G H5824912ORPHA13799713600279
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX19 CL E G H5824912ORPHA13799713600279
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX19 CL E G H5824912ORPHA13799713600279
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX19 CL E G H5824912ORPHA13799713600279
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX19 CL E G H5824912ORPHA13799713600279
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX19 CL E G H5824912ORPHA13799713600279
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX19 CL E G H5824912ORPHA13799713600279
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX19 CL E G H5824912ORPHA13799713600279
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX19 CL E G H5824912ORPHA13799713600279
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX19 CL E G H5824912ORPHA13799713600279
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX19 CL E G H5824912ORPHA13799713600279
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX19 CL E G H5824912ORPHA13799713600279
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX19 CL E G H5824912ORPHA13799713600279
HP:0000407HP:0000410Mixed hearing impairment1PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0000407HP:0000410Mixed hearing impairment1PEX2 CL E G H5828772ORPHA14639717170993
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX2 CL E G H5828772ORPHA14639717170993
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX2 CL E G H5828772ORPHA14639717170993
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX2 CL E G H5828772ORPHA14639717170993
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX2 CL E G H5828772ORPHA14639717170993
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX2 CL E G H5828772ORPHA14639717170993
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX2 CL E G H5828772ORPHA14639717170993
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX2 CL E G H5828772ORPHA14639717170993
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX2 CL E G H5828772ORPHA14639717170993
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX2 CL E G H5828772ORPHA14639717170993
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX2 CL E G H5828772ORPHA14639717170993
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX2 CL E G H5828772ORPHA14639717170993
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX2 CL E G H5828772ORPHA14639717170993
HP:0000407HP:0000410Mixed hearing impairment1PEX2 CL E G H5828912ORPHA14639717170993
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX2 CL E G H5828912ORPHA14639717170993
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX2 CL E G H5828912ORPHA14639717170993
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX2 CL E G H5828912ORPHA14639717170993
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX2 CL E G H5828912ORPHA14639717170993
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX2 CL E G H5828912ORPHA14639717170993
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX2 CL E G H5828912ORPHA14639717170993
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX2 CL E G H5828912ORPHA14639717170993
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX2 CL E G H5828912ORPHA14639717170993
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX2 CL E G H5828912ORPHA14639717170993
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX2 CL E G H5828912ORPHA14639717170993
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX2 CL E G H5828912ORPHA14639717170993
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX2 CL E G H5828912ORPHA14639717170993
HP:0000407HP:0000410Mixed hearing impairment1PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0000407HP:0000410Mixed hearing impairment1PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM14639717170993
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM14639717170993
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM14639717170993
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM14639717170993
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM14639717170993
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM14639717170993
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM14639717170993
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM14639717170993
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM14639717170993
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM14639717170993
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM14639717170993
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM14639717170993
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM14639717170993
HP:0000407HP:0000410Mixed hearing impairment1PEX26 CL E G H55670772ORPHA152222965608666
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX26 CL E G H55670772ORPHA152222965608666
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX26 CL E G H55670772ORPHA152222965608666
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX26 CL E G H55670772ORPHA152222965608666
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX26 CL E G H55670772ORPHA152222965608666
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX26 CL E G H55670772ORPHA152222965608666
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX26 CL E G H55670772ORPHA152222965608666
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX26 CL E G H55670772ORPHA152222965608666
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX26 CL E G H55670772ORPHA152222965608666
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX26 CL E G H55670772ORPHA152222965608666
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX26 CL E G H55670772ORPHA152222965608666
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX26 CL E G H55670772ORPHA152222965608666
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX26 CL E G H55670772ORPHA152222965608666
HP:0000407HP:0000410Mixed hearing impairment1PEX26 CL E G H55670912ORPHA152222965608666
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX26 CL E G H55670912ORPHA152222965608666
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX26 CL E G H55670912ORPHA152222965608666
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX26 CL E G H55670912ORPHA152222965608666
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX26 CL E G H55670912ORPHA152222965608666
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX26 CL E G H55670912ORPHA152222965608666
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX26 CL E G H55670912ORPHA152222965608666
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX26 CL E G H55670912ORPHA152222965608666
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX26 CL E G H55670912ORPHA152222965608666
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX26 CL E G H55670912ORPHA152222965608666
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX26 CL E G H55670912ORPHA152222965608666
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX26 CL E G H55670912ORPHA152222965608666
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX26 CL E G H55670912ORPHA152222965608666
HP:0000407HP:0000410Mixed hearing impairment1PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0000407HP:0000410Mixed hearing impairment1PEX26 CL E G H55670614873Peroxisome biogenesis disorder 7B614873C3553951OMIM152222965608666
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX26 CL E G H55670614873Peroxisome biogenesis disorder 7B614873C3553951OMIM152222965608666
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX26 CL E G H55670614873Peroxisome biogenesis disorder 7B614873C3553951OMIM152222965608666
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX26 CL E G H55670614873Peroxisome biogenesis disorder 7B614873C3553951OMIM152222965608666
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX26 CL E G H55670614873Peroxisome biogenesis disorder 7B614873C3553951OMIM152222965608666
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX26 CL E G H55670614873Peroxisome biogenesis disorder 7B614873C3553951OMIM152222965608666
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX26 CL E G H55670614873Peroxisome biogenesis disorder 7B614873C3553951OMIM152222965608666
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX26 CL E G H55670614873Peroxisome biogenesis disorder 7B614873C3553951OMIM152222965608666
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX26 CL E G H55670614873Peroxisome biogenesis disorder 7B614873C3553951OMIM152222965608666
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX26 CL E G H55670614873Peroxisome biogenesis disorder 7B614873C3553951OMIM152222965608666
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX26 CL E G H55670614873Peroxisome biogenesis disorder 7B614873C3553951OMIM152222965608666
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX26 CL E G H55670614873Peroxisome biogenesis disorder 7B614873C3553951OMIM152222965608666
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX26 CL E G H55670614873Peroxisome biogenesis disorder 7B614873C3553951OMIM152222965608666
HP:0000407HP:0000410Mixed hearing impairment1PEX3 CL E G H8504772ORPHA13588858603164
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX3 CL E G H8504772ORPHA13588858603164
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX3 CL E G H8504772ORPHA13588858603164
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX3 CL E G H8504772ORPHA13588858603164
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX3 CL E G H8504772ORPHA13588858603164
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX3 CL E G H8504772ORPHA13588858603164
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX3 CL E G H8504772ORPHA13588858603164
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX3 CL E G H8504772ORPHA13588858603164
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX3 CL E G H8504772ORPHA13588858603164
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX3 CL E G H8504772ORPHA13588858603164
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX3 CL E G H8504772ORPHA13588858603164
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX3 CL E G H8504772ORPHA13588858603164
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX3 CL E G H8504772ORPHA13588858603164
HP:0000407HP:0000410Mixed hearing impairment1PEX3 CL E G H8504912ORPHA13588858603164
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX3 CL E G H8504912ORPHA13588858603164
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX3 CL E G H8504912ORPHA13588858603164
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX3 CL E G H8504912ORPHA13588858603164
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX3 CL E G H8504912ORPHA13588858603164
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX3 CL E G H8504912ORPHA13588858603164
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX3 CL E G H8504912ORPHA13588858603164
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX3 CL E G H8504912ORPHA13588858603164
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX3 CL E G H8504912ORPHA13588858603164
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX3 CL E G H8504912ORPHA13588858603164
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX3 CL E G H8504912ORPHA13588858603164
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX3 CL E G H8504912ORPHA13588858603164
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX3 CL E G H8504912ORPHA13588858603164
HP:0000407HP:0000410Mixed hearing impairment1PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0000407HP:0000410Mixed hearing impairment1PEX5 CL E G H5830772ORPHA18589719600414
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX5 CL E G H5830772ORPHA18589719600414
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX5 CL E G H5830772ORPHA18589719600414
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX5 CL E G H5830772ORPHA18589719600414
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX5 CL E G H5830772ORPHA18589719600414
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX5 CL E G H5830772ORPHA18589719600414
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX5 CL E G H5830772ORPHA18589719600414
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX5 CL E G H5830772ORPHA18589719600414
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX5 CL E G H5830772ORPHA18589719600414
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX5 CL E G H5830772ORPHA18589719600414
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX5 CL E G H5830772ORPHA18589719600414
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX5 CL E G H5830772ORPHA18589719600414
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX5 CL E G H5830772ORPHA18589719600414
HP:0000407HP:0000410Mixed hearing impairment1PEX5 CL E G H5830912ORPHA18589719600414
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX5 CL E G H5830912ORPHA18589719600414
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX5 CL E G H5830912ORPHA18589719600414
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX5 CL E G H5830912ORPHA18589719600414
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX5 CL E G H5830912ORPHA18589719600414
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX5 CL E G H5830912ORPHA18589719600414
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX5 CL E G H5830912ORPHA18589719600414
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX5 CL E G H5830912ORPHA18589719600414
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX5 CL E G H5830912ORPHA18589719600414
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX5 CL E G H5830912ORPHA18589719600414
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX5 CL E G H5830912ORPHA18589719600414
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX5 CL E G H5830912ORPHA18589719600414
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX5 CL E G H5830912ORPHA18589719600414
HP:0000407HP:0000410Mixed hearing impairment1PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0000407HP:0000410Mixed hearing impairment1PEX6 CL E G H5190772ORPHA114588859601498
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX6 CL E G H5190772ORPHA114588859601498
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX6 CL E G H5190772ORPHA114588859601498
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX6 CL E G H5190772ORPHA114588859601498
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX6 CL E G H5190772ORPHA114588859601498
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX6 CL E G H5190772ORPHA114588859601498
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX6 CL E G H5190772ORPHA114588859601498
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX6 CL E G H5190772ORPHA114588859601498
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX6 CL E G H5190772ORPHA114588859601498
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX6 CL E G H5190772ORPHA114588859601498
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX6 CL E G H5190772ORPHA114588859601498
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX6 CL E G H5190772ORPHA114588859601498
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX6 CL E G H5190772ORPHA114588859601498
HP:0000407HP:0000410Mixed hearing impairment1PEX6 CL E G H5190912ORPHA114588859601498
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX6 CL E G H5190912ORPHA114588859601498
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX6 CL E G H5190912ORPHA114588859601498
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX6 CL E G H5190912ORPHA114588859601498
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX6 CL E G H5190912ORPHA114588859601498
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX6 CL E G H5190912ORPHA114588859601498
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX6 CL E G H5190912ORPHA114588859601498
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX6 CL E G H5190912ORPHA114588859601498
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX6 CL E G H5190912ORPHA114588859601498
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX6 CL E G H5190912ORPHA114588859601498
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX6 CL E G H5190912ORPHA114588859601498
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX6 CL E G H5190912ORPHA114588859601498
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX6 CL E G H5190912ORPHA114588859601498
HP:0000407HP:0000410Mixed hearing impairment1PEX6 CL E G H51903220ORPHA114588859601498
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX6 CL E G H51903220ORPHA114588859601498
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX6 CL E G H51903220ORPHA114588859601498
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX6 CL E G H51903220ORPHA114588859601498
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX6 CL E G H51903220ORPHA114588859601498
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX6 CL E G H51903220ORPHA114588859601498
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX6 CL E G H51903220ORPHA114588859601498
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX6 CL E G H51903220ORPHA114588859601498
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX6 CL E G H51903220ORPHA114588859601498
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX6 CL E G H51903220ORPHA114588859601498
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX6 CL E G H51903220ORPHA114588859601498
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX6 CL E G H51903220ORPHA114588859601498
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX6 CL E G H51903220ORPHA114588859601498
HP:0000407HP:0000410Mixed hearing impairment1PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0000407HP:0000410Mixed hearing impairment1PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM114588859601498
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM114588859601498
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM114588859601498
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM114588859601498
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM114588859601498
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM114588859601498
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM114588859601498
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM114588859601498
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM114588859601498
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM114588859601498
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM114588859601498
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM114588859601498
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM114588859601498
HP:0000407HP:0000410Mixed hearing impairment1PEX7 CL E G H5191773ORPHA15508860601757
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX7 CL E G H5191773ORPHA15508860601757
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX7 CL E G H5191773ORPHA15508860601757
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX7 CL E G H5191773ORPHA15508860601757
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX7 CL E G H5191773ORPHA15508860601757
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX7 CL E G H5191773ORPHA15508860601757
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX7 CL E G H5191773ORPHA15508860601757
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX7 CL E G H5191773ORPHA15508860601757
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX7 CL E G H5191773ORPHA15508860601757
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX7 CL E G H5191773ORPHA15508860601757
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX7 CL E G H5191773ORPHA15508860601757
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX7 CL E G H5191773ORPHA15508860601757
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX7 CL E G H5191773ORPHA15508860601757
HP:0000407HP:0000410Mixed hearing impairment1PEX7 CL E G H5191614879Peroxisome biogenesis disorder 9B614879CN159238OMIM15508860601757
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX7 CL E G H5191614879Peroxisome biogenesis disorder 9B614879CN159238OMIM15508860601757
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX7 CL E G H5191614879Peroxisome biogenesis disorder 9B614879CN159238OMIM15508860601757
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX7 CL E G H5191614879Peroxisome biogenesis disorder 9B614879CN159238OMIM15508860601757
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX7 CL E G H5191614879Peroxisome biogenesis disorder 9B614879CN159238OMIM15508860601757
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX7 CL E G H5191614879Peroxisome biogenesis disorder 9B614879CN159238OMIM15508860601757
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX7 CL E G H5191614879Peroxisome biogenesis disorder 9B614879CN159238OMIM15508860601757
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX7 CL E G H5191614879Peroxisome biogenesis disorder 9B614879CN159238OMIM15508860601757
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX7 CL E G H5191614879Peroxisome biogenesis disorder 9B614879CN159238OMIM15508860601757
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX7 CL E G H5191614879Peroxisome biogenesis disorder 9B614879CN159238OMIM15508860601757
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX7 CL E G H5191614879Peroxisome biogenesis disorder 9B614879CN159238OMIM15508860601757
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX7 CL E G H5191614879Peroxisome biogenesis disorder 9B614879CN159238OMIM15508860601757
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX7 CL E G H5191614879Peroxisome biogenesis disorder 9B614879CN159238OMIM15508860601757
HP:0000407HP:0000410Mixed hearing impairment1PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM15508860601757
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM15508860601757
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM15508860601757
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM15508860601757
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM15508860601757
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM15508860601757
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM15508860601757
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM15508860601757
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM15508860601757
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM15508860601757
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM15508860601757
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM15508860601757
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM15508860601757
HP:0000407HP:0000410Mixed hearing impairment1PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0000407HP:0008587Mild neurosensory hearing impairment1PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0000407HP:0011476Profound sensorineural hearing impairment1PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0000407HP:0008625Severe sensorineural hearing impairment1PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0000407HP:0000410Mixed hearing impairment1PGM3 CL E G H5238615816Immunodeficiency 23615816C4014371OMIM13598907172100
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PGM3 CL E G H5238615816Immunodeficiency 23615816C4014371OMIM13598907172100
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PGM3 CL E G H5238615816Immunodeficiency 23615816C4014371OMIM13598907172100
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PGM3 CL E G H5238615816Immunodeficiency 23615816C4014371OMIM13598907172100
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PGM3 CL E G H5238615816Immunodeficiency 23615816C4014371OMIM13598907172100
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PGM3 CL E G H5238615816Immunodeficiency 23615816C4014371OMIM13598907172100
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PGM3 CL E G H5238615816Immunodeficiency 23615816C4014371OMIM13598907172100
HP:0000407HP:0008587Mild neurosensory hearing impairment1PGM3 CL E G H5238615816Immunodeficiency 23615816C4014371OMIM13598907172100
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PGM3 CL E G H5238615816Immunodeficiency 23615816C4014371OMIM13598907172100
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PGM3 CL E G H5238615816Immunodeficiency 23615816C4014371OMIM13598907172100
HP:0000407HP:0011476Profound sensorineural hearing impairment1PGM3 CL E G H5238615816Immunodeficiency 23615816C4014371OMIM13598907172100
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PGM3 CL E G H5238615816Immunodeficiency 23615816C4014371OMIM13598907172100
HP:0000407HP:0008625Severe sensorineural hearing impairment1PGM3 CL E G H5238615816Immunodeficiency 23615816C4014371OMIM13598907172100
HP:0000407HP:0000410Mixed hearing impairment1PHYH CL E G H5264773ORPHA13828940602026
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PHYH CL E G H5264773ORPHA13828940602026
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PHYH CL E G H5264773ORPHA13828940602026
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PHYH CL E G H5264773ORPHA13828940602026
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PHYH CL E G H5264773ORPHA13828940602026
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PHYH CL E G H5264773ORPHA13828940602026
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PHYH CL E G H5264773ORPHA13828940602026
HP:0000407HP:0008587Mild neurosensory hearing impairment1PHYH CL E G H5264773ORPHA13828940602026
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PHYH CL E G H5264773ORPHA13828940602026
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PHYH CL E G H5264773ORPHA13828940602026
HP:0000407HP:0011476Profound sensorineural hearing impairment1PHYH CL E G H5264773ORPHA13828940602026
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PHYH CL E G H5264773ORPHA13828940602026
HP:0000407HP:0008625Severe sensorineural hearing impairment1PHYH CL E G H5264773ORPHA13828940602026
HP:0000407HP:0000410Mixed hearing impairment1PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM13828940602026
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM13828940602026
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM13828940602026
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM13828940602026
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM13828940602026
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM13828940602026
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM13828940602026
HP:0000407HP:0008587Mild neurosensory hearing impairment1PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM13828940602026
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM13828940602026
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM13828940602026
HP:0000407HP:0011476Profound sensorineural hearing impairment1PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM13828940602026
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM13828940602026
HP:0000407HP:0008625Severe sensorineural hearing impairment1PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM13828940602026
HP:0000407HP:0000410Mixed hearing impairment1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA14578979171833
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA14578979171833
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA14578979171833
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA14578979171833
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA14578979171833
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA14578979171833
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA14578979171833
HP:0000407HP:0008587Mild neurosensory hearing impairment1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA14578979171833
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA14578979171833
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA14578979171833
HP:0000407HP:0011476Profound sensorineural hearing impairment1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA14578979171833
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA14578979171833
HP:0000407HP:0008625Severe sensorineural hearing impairment1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA14578979171833
HP:0000407HP:0000410Mixed hearing impairment1PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM14578979171833
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM14578979171833
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM14578979171833
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM14578979171833
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM14578979171833
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM14578979171833
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM14578979171833
HP:0000407HP:0008587Mild neurosensory hearing impairment1PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM14578979171833
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM14578979171833
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM14578979171833
HP:0000407HP:0011476Profound sensorineural hearing impairment1PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM14578979171833
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM14578979171833
HP:0000407HP:0008625Severe sensorineural hearing impairment1PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM14578979171833
HP:0000407HP:0000410Mixed hearing impairment1PJVK CL E G H494513610220Deafness, autosomal recessive 59610220C1857744OMIM117229502610219
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PJVK CL E G H494513610220Deafness, autosomal recessive 59610220C1857744OMIM117229502610219
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PJVK CL E G H494513610220Deafness, autosomal recessive 59610220C1857744OMIM117229502610219
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PJVK CL E G H494513610220Deafness, autosomal recessive 59610220C1857744OMIM117229502610219
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PJVK CL E G H494513610220Deafness, autosomal recessive 59610220C1857744OMIM117229502610219
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PJVK CL E G H494513610220Deafness, autosomal recessive 59610220C1857744OMIM117229502610219
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PJVK CL E G H494513610220Deafness, autosomal recessive 59610220C1857744OMIM117229502610219
HP:0000407HP:0008587Mild neurosensory hearing impairment1PJVK CL E G H494513610220Deafness, autosomal recessive 59610220C1857744OMIM117229502610219
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PJVK CL E G H494513610220Deafness, autosomal recessive 59610220C1857744OMIM117229502610219
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PJVK CL E G H494513610220Deafness, autosomal recessive 59610220C1857744OMIM117229502610219
HP:0000407HP:0011476Profound sensorineural hearing impairment1PJVK CL E G H494513610220Deafness, autosomal recessive 59610220C1857744OMIM117229502610219
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PJVK CL E G H494513610220Deafness, autosomal recessive 59610220C1857744OMIM117229502610219
HP:0000407HP:0008625Severe sensorineural hearing impairment1PJVK CL E G H494513610220Deafness, autosomal recessive 59610220C1857744OMIM117229502610219
HP:0000407HP:0000410Mixed hearing impairment1PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM14929118601097
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM14929118601097
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM14929118601097
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM14929118601097
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM14929118601097
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM14929118601097
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM14929118601097
HP:0000407HP:0008587Mild neurosensory hearing impairment1PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM14929118601097
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM14929118601097
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM14929118601097
HP:0000407HP:0011476Profound sensorineural hearing impairment1PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM14929118601097
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM14929118601097
HP:0000407HP:0008625Severe sensorineural hearing impairment1PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM14929118601097
HP:0000407HP:0000410Mixed hearing impairment1PNPLA6 CL E G H109082377ORPHA1121616268603197
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PNPLA6 CL E G H109082377ORPHA1121616268603197
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PNPLA6 CL E G H109082377ORPHA1121616268603197
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PNPLA6 CL E G H109082377ORPHA1121616268603197
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PNPLA6 CL E G H109082377ORPHA1121616268603197
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PNPLA6 CL E G H109082377ORPHA1121616268603197
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PNPLA6 CL E G H109082377ORPHA1121616268603197
HP:0000407HP:0008587Mild neurosensory hearing impairment1PNPLA6 CL E G H109082377ORPHA1121616268603197
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PNPLA6 CL E G H109082377ORPHA1121616268603197
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PNPLA6 CL E G H109082377ORPHA1121616268603197
HP:0000407HP:0011476Profound sensorineural hearing impairment1PNPLA6 CL E G H109082377ORPHA1121616268603197
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PNPLA6 CL E G H109082377ORPHA1121616268603197
HP:0000407HP:0008625Severe sensorineural hearing impairment1PNPLA6 CL E G H109082377ORPHA1121616268603197
HP:0000407HP:0000410Mixed hearing impairment1POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM143789175174761
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM143789175174761
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM143789175174761
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM143789175174761
HP:0000407HP:0008527Congenital sensorineural hearing impairment1POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM143789175174761
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM143789175174761
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM143789175174761
HP:0000407HP:0008587Mild neurosensory hearing impairment1POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM143789175174761
HP:0000407HP:0008504Moderate sensorineural hearing impairment1POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM143789175174761
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM143789175174761
HP:0000407HP:0011476Profound sensorineural hearing impairment1POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM143789175174761
HP:0000407HP:0000408Progressive sensorineural hearing impairment1POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM143789175174761
HP:0000407HP:0008625Severe sensorineural hearing impairment1POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM143789175174761
HP:0000407HP:0000410Mixed hearing impairment1POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM123249179174763
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM123249179174763
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM123249179174763
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM123249179174763
HP:0000407HP:0008527Congenital sensorineural hearing impairment1POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM123249179174763
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM123249179174763
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM123249179174763
HP:0000407HP:0008587Mild neurosensory hearing impairment1POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM123249179174763
HP:0000407HP:0008504Moderate sensorineural hearing impairment1POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM123249179174763
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM123249179174763
HP:0000407HP:0011476Profound sensorineural hearing impairment1POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM123249179174763
HP:0000407HP:0000408Progressive sensorineural hearing impairment1POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM123249179174763
HP:0000407HP:0008625Severe sensorineural hearing impairment1POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM123249179174763
HP:0000407HP:0000410Mixed hearing impairment1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0000407HP:0008527Congenital sensorineural hearing impairment1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0000407HP:0008587Mild neurosensory hearing impairment1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0000407HP:0008504Moderate sensorineural hearing impairment1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0000407HP:0011476Profound sensorineural hearing impairment1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0000407HP:0000408Progressive sensorineural hearing impairment1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0000407HP:0008625Severe sensorineural hearing impairment1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0000407HP:0000410Mixed hearing impairment1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0000407HP:0008527Congenital sensorineural hearing impairment1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0000407HP:0008587Mild neurosensory hearing impairment1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0000407HP:0008504Moderate sensorineural hearing impairment1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0000407HP:0011476Profound sensorineural hearing impairment1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0000407HP:0000408Progressive sensorineural hearing impairment1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0000407HP:0008625Severe sensorineural hearing impairment1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0000407HP:0000410Mixed hearing impairment1POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM123249179174763
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM123249179174763
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM123249179174763
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM123249179174763
HP:0000407HP:0008527Congenital sensorineural hearing impairment1POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM123249179174763
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM123249179174763
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM123249179174763
HP:0000407HP:0008587Mild neurosensory hearing impairment1POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM123249179174763
HP:0000407HP:0008504Moderate sensorineural hearing impairment1POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM123249179174763
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM123249179174763
HP:0000407HP:0011476Profound sensorineural hearing impairment1POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM123249179174763
HP:0000407HP:0000408Progressive sensorineural hearing impairment1POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM123249179174763
HP:0000407HP:0008625Severe sensorineural hearing impairment1POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM123249179174763
HP:0000407HP:0000410Mixed hearing impairment1POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1117419139606822
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1117419139606822
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1117419139606822
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1117419139606822
HP:0000407HP:0008527Congenital sensorineural hearing impairment1POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1117419139606822
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1117419139606822
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1117419139606822
HP:0000407HP:0008587Mild neurosensory hearing impairment1POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1117419139606822
HP:0000407HP:0008504Moderate sensorineural hearing impairment1POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1117419139606822
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1117419139606822
HP:0000407HP:0011476Profound sensorineural hearing impairment1POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1117419139606822
HP:0000407HP:0000408Progressive sensorineural hearing impairment1POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1117419139606822
HP:0000407HP:0008625Severe sensorineural hearing impairment1POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1117419139606822
HP:0000407HP:0000410Mixed hearing impairment1POU3F4 CL E G H54561435Coloboma of lens ala nasiORPHA12599217300039
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1POU3F4 CL E G H54561435Coloboma of lens ala nasiORPHA12599217300039
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1POU3F4 CL E G H54561435Coloboma of lens ala nasiORPHA12599217300039
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1POU3F4 CL E G H54561435Coloboma of lens ala nasiORPHA12599217300039
HP:0000407HP:0008527Congenital sensorineural hearing impairment1POU3F4 CL E G H54561435Coloboma of lens ala nasiORPHA12599217300039
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1POU3F4 CL E G H54561435Coloboma of lens ala nasiORPHA12599217300039
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1POU3F4 CL E G H54561435Coloboma of lens ala nasiORPHA12599217300039
HP:0000407HP:0008587Mild neurosensory hearing impairment1POU3F4 CL E G H54561435Coloboma of lens ala nasiORPHA12599217300039
HP:0000407HP:0008504Moderate sensorineural hearing impairment1POU3F4 CL E G H54561435Coloboma of lens ala nasiORPHA12599217300039
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1POU3F4 CL E G H54561435Coloboma of lens ala nasiORPHA12599217300039
HP:0000407HP:0011476Profound sensorineural hearing impairment1POU3F4 CL E G H54561435Coloboma of lens ala nasiORPHA12599217300039
HP:0000407HP:0000408Progressive sensorineural hearing impairment1POU3F4 CL E G H54561435Coloboma of lens ala nasiORPHA12599217300039
HP:0000407HP:0008625Severe sensorineural hearing impairment1POU3F4 CL E G H54561435Coloboma of lens ala nasiORPHA12599217300039
HP:0000407HP:0000410Mixed hearing impairment1PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA114432528610598
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA114432528610598
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA114432528610598
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA114432528610598
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA114432528610598
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA114432528610598
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA114432528610598
HP:0000407HP:0008587Mild neurosensory hearing impairment1PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA114432528610598
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA114432528610598
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA114432528610598
HP:0000407HP:0011476Profound sensorineural hearing impairment1PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA114432528610598
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA114432528610598
HP:0000407HP:0008625Severe sensorineural hearing impairment1PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA114432528610598
HP:0000407HP:0000410Mixed hearing impairment1PRDM5 CL E G H1110790354ORPHA14449349614161
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PRDM5 CL E G H1110790354ORPHA14449349614161
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PRDM5 CL E G H1110790354ORPHA14449349614161
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PRDM5 CL E G H1110790354ORPHA14449349614161
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PRDM5 CL E G H1110790354ORPHA14449349614161
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PRDM5 CL E G H1110790354ORPHA14449349614161
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PRDM5 CL E G H1110790354ORPHA14449349614161
HP:0000407HP:0008587Mild neurosensory hearing impairment1PRDM5 CL E G H1110790354ORPHA14449349614161
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PRDM5 CL E G H1110790354ORPHA14449349614161
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PRDM5 CL E G H1110790354ORPHA14449349614161
HP:0000407HP:0011476Profound sensorineural hearing impairment1PRDM5 CL E G H1110790354ORPHA14449349614161
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PRDM5 CL E G H1110790354ORPHA14449349614161
HP:0000407HP:0008625Severe sensorineural hearing impairment1PRDM5 CL E G H1110790354ORPHA14449349614161
HP:0000407HP:0000410Mixed hearing impairment1PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19289454604365
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19289454604365
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19289454604365
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19289454604365
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19289454604365
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19289454604365
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19289454604365
HP:0000407HP:0008587Mild neurosensory hearing impairment1PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19289454604365
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19289454604365
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19289454604365
HP:0000407HP:0011476Profound sensorineural hearing impairment1PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19289454604365
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19289454604365
HP:0000407HP:0008625Severe sensorineural hearing impairment1PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19289454604365
HP:0000407HP:0000410Mixed hearing impairment1PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA132517348607301
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA132517348607301
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA132517348607301
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA132517348607301
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA132517348607301
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA132517348607301
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA132517348607301
HP:0000407HP:0008587Mild neurosensory hearing impairment1PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA132517348607301
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA132517348607301
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA132517348607301
HP:0000407HP:0011476Profound sensorineural hearing impairment1PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA132517348607301
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA132517348607301
HP:0000407HP:0008625Severe sensorineural hearing impairment1PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA132517348607301
HP:0000407HP:0000410Mixed hearing impairment1PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA162915446606419
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA162915446606419
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA162915446606419
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA162915446606419
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA162915446606419
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA162915446606419
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA162915446606419
HP:0000407HP:0008587Mild neurosensory hearing impairment1PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA162915446606419
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA162915446606419
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA162915446606419
HP:0000407HP:0011476Profound sensorineural hearing impairment1PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA162915446606419
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA162915446606419
HP:0000407HP:0008625Severe sensorineural hearing impairment1PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA162915446606419
HP:0000407HP:0000410Mixed hearing impairment1PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA130517349607795
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA130517349607795
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA130517349607795
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA130517349607795
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA130517349607795
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA130517349607795
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA130517349607795
HP:0000407HP:0008587Mild neurosensory hearing impairment1PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA130517349607795
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA130517349607795
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA130517349607795
HP:0000407HP:0011476Profound sensorineural hearing impairment1PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA130517349607795
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA130517349607795
HP:0000407HP:0008625Severe sensorineural hearing impairment1PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA130517349607795
HP:0000407HP:0000410Mixed hearing impairment1PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158115860613979
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158115860613979
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158115860613979
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158115860613979
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158115860613979
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158115860613979
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158115860613979
HP:0000407HP:0008587Mild neurosensory hearing impairment1PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158115860613979
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158115860613979
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158115860613979
HP:0000407HP:0011476Profound sensorineural hearing impairment1PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158115860613979
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158115860613979
HP:0000407HP:0008625Severe sensorineural hearing impairment1PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158115860613979
HP:0000407HP:0000410Mixed hearing impairment1PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1124017340607300
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1124017340607300
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1124017340607300
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1124017340607300
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1124017340607300
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1124017340607300
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1124017340607300
HP:0000407HP:0008587Mild neurosensory hearing impairment1PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1124017340607300
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1124017340607300
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1124017340607300
HP:0000407HP:0011476Profound sensorineural hearing impairment1PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1124017340607300
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1124017340607300
HP:0000407HP:0008625Severe sensorineural hearing impairment1PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1124017340607300
HP:0000407HP:0000410Mixed hearing impairment1PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17029942179605
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17029942179605
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17029942179605
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17029942179605
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17029942179605
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17029942179605
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17029942179605
HP:0000407HP:0008587Mild neurosensory hearing impairment1PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17029942179605
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17029942179605
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17029942179605
HP:0000407HP:0011476Profound sensorineural hearing impairment1PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17029942179605
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17029942179605
HP:0000407HP:0008625Severe sensorineural hearing impairment1PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17029942179605
HP:0000407HP:0000410Mixed hearing impairment1PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0000407HP:0008587Mild neurosensory hearing impairment1PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0000407HP:0011476Profound sensorineural hearing impairment1PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0000407HP:0008625Severe sensorineural hearing impairment1PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0000407HP:0000410Mixed hearing impairment1PRPS1 CL E G H5631311070Charcot-Marie-Tooth disease, X-linked recessive, type 5311070C1839566OMIM14159462311850
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PRPS1 CL E G H5631311070Charcot-Marie-Tooth disease, X-linked recessive, type 5311070C1839566OMIM14159462311850
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PRPS1 CL E G H5631311070Charcot-Marie-Tooth disease, X-linked recessive, type 5311070C1839566OMIM14159462311850
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PRPS1 CL E G H5631311070Charcot-Marie-Tooth disease, X-linked recessive, type 5311070C1839566OMIM14159462311850
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PRPS1 CL E G H5631311070Charcot-Marie-Tooth disease, X-linked recessive, type 5311070C1839566OMIM14159462311850
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PRPS1 CL E G H5631311070Charcot-Marie-Tooth disease, X-linked recessive, type 5311070C1839566OMIM14159462311850
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PRPS1 CL E G H5631311070Charcot-Marie-Tooth disease, X-linked recessive, type 5311070C1839566OMIM14159462311850
HP:0000407HP:0008587Mild neurosensory hearing impairment1PRPS1 CL E G H5631311070Charcot-Marie-Tooth disease, X-linked recessive, type 5311070C1839566OMIM14159462311850
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PRPS1 CL E G H5631311070Charcot-Marie-Tooth disease, X-linked recessive, type 5311070C1839566OMIM14159462311850
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PRPS1 CL E G H5631311070Charcot-Marie-Tooth disease, X-linked recessive, type 5311070C1839566OMIM14159462311850
HP:0000407HP:0011476Profound sensorineural hearing impairment1PRPS1 CL E G H5631311070Charcot-Marie-Tooth disease, X-linked recessive, type 5311070C1839566OMIM14159462311850
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PRPS1 CL E G H5631311070Charcot-Marie-Tooth disease, X-linked recessive, type 5311070C1839566OMIM14159462311850
HP:0000407HP:0008625Severe sensorineural hearing impairment1PRPS1 CL E G H5631311070Charcot-Marie-Tooth disease, X-linked recessive, type 5311070C1839566OMIM14159462311850
HP:0000407HP:0000410Mixed hearing impairment1PRPS1 CL E G H5631304500Deafness, X-linked 1304500C1844677OMIM14159462311850
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PRPS1 CL E G H5631304500Deafness, X-linked 1304500C1844677OMIM14159462311850
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PRPS1 CL E G H5631304500Deafness, X-linked 1304500C1844677OMIM14159462311850
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PRPS1 CL E G H5631304500Deafness, X-linked 1304500C1844677OMIM14159462311850
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PRPS1 CL E G H5631304500Deafness, X-linked 1304500C1844677OMIM14159462311850
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PRPS1 CL E G H5631304500Deafness, X-linked 1304500C1844677OMIM14159462311850
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PRPS1 CL E G H5631304500Deafness, X-linked 1304500C1844677OMIM14159462311850
HP:0000407HP:0008587Mild neurosensory hearing impairment1PRPS1 CL E G H5631304500Deafness, X-linked 1304500C1844677OMIM14159462311850
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PRPS1 CL E G H5631304500Deafness, X-linked 1304500C1844677OMIM14159462311850
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PRPS1 CL E G H5631304500Deafness, X-linked 1304500C1844677OMIM14159462311850
HP:0000407HP:0011476Profound sensorineural hearing impairment1PRPS1 CL E G H5631304500Deafness, X-linked 1304500C1844677OMIM14159462311850
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PRPS1 CL E G H5631304500Deafness, X-linked 1304500C1844677OMIM14159462311850
HP:0000407HP:0008625Severe sensorineural hearing impairment1PRPS1 CL E G H5631304500Deafness, X-linked 1304500C1844677OMIM14159462311850
HP:0000407HP:0000410Mixed hearing impairment1PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM14159462311850
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM14159462311850
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM14159462311850
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM14159462311850
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM14159462311850
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM14159462311850
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM14159462311850
HP:0000407HP:0008587Mild neurosensory hearing impairment1PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM14159462311850
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM14159462311850
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM14159462311850
HP:0000407HP:0011476Profound sensorineural hearing impairment1PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM14159462311850
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM14159462311850
HP:0000407HP:0008625Severe sensorineural hearing impairment1PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM14159462311850
HP:0000407HP:0000410Mixed hearing impairment1PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM11909587612792
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM11909587612792
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM11909587612792
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM11909587612792
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM11909587612792
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM11909587612792
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM11909587612792
HP:0000407HP:0008587Mild neurosensory hearing impairment1PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM11909587612792
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM11909587612792
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM11909587612792
HP:0000407HP:0011476Profound sensorineural hearing impairment1PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM11909587612792
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM11909587612792
HP:0000407HP:0008625Severe sensorineural hearing impairment1PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM11909587612792
HP:0000407HP:0000410Mixed hearing impairment1PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM18549644176876
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM18549644176876
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM18549644176876
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM18549644176876
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM18549644176876
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM18549644176876
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM18549644176876
HP:0000407HP:0008587Mild neurosensory hearing impairment1PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM18549644176876
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM18549644176876
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM18549644176876
HP:0000407HP:0011476Profound sensorineural hearing impairment1PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM18549644176876
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM18549644176876
HP:0000407HP:0008625Severe sensorineural hearing impairment1PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM18549644176876
HP:0000407HP:0000410Mixed hearing impairment1PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM18549644176876
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM18549644176876
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM18549644176876
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM18549644176876
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM18549644176876
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM18549644176876
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM18549644176876
HP:0000407HP:0008587Mild neurosensory hearing impairment1PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM18549644176876
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM18549644176876
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM18549644176876
HP:0000407HP:0011476Profound sensorineural hearing impairment1PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM18549644176876
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM18549644176876
HP:0000407HP:0008625Severe sensorineural hearing impairment1PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM18549644176876
HP:0000407HP:0000410Mixed hearing impairment1PTPN22 CL E G H261913437ORPHA1639652600716
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PTPN22 CL E G H261913437ORPHA1639652600716
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PTPN22 CL E G H261913437ORPHA1639652600716
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PTPN22 CL E G H261913437ORPHA1639652600716
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PTPN22 CL E G H261913437ORPHA1639652600716
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PTPN22 CL E G H261913437ORPHA1639652600716
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PTPN22 CL E G H261913437ORPHA1639652600716
HP:0000407HP:0008587Mild neurosensory hearing impairment1PTPN22 CL E G H261913437ORPHA1639652600716
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PTPN22 CL E G H261913437ORPHA1639652600716
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PTPN22 CL E G H261913437ORPHA1639652600716
HP:0000407HP:0011476Profound sensorineural hearing impairment1PTPN22 CL E G H261913437ORPHA1639652600716
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PTPN22 CL E G H261913437ORPHA1639652600716
HP:0000407HP:0008625Severe sensorineural hearing impairment1PTPN22 CL E G H261913437ORPHA1639652600716
HP:0000407HP:0000410Mixed hearing impairment1PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM14924265608625
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM14924265608625
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM14924265608625
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM14924265608625
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM14924265608625
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM14924265608625
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM14924265608625
HP:0000407HP:0008587Mild neurosensory hearing impairment1PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM14924265608625
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM14924265608625
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM14924265608625
HP:0000407HP:0011476Profound sensorineural hearing impairment1PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM14924265608625
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM14924265608625
HP:0000407HP:0008625Severe sensorineural hearing impairment1PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM14924265608625
HP:0000407HP:0000410Mixed hearing impairment1RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM122514263606144
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM122514263606144
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM122514263606144
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM122514263606144
HP:0000407HP:0008527Congenital sensorineural hearing impairment1RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM122514263606144
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM122514263606144
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM122514263606144
HP:0000407HP:0008587Mild neurosensory hearing impairment1RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM122514263606144
HP:0000407HP:0008504Moderate sensorineural hearing impairment1RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM122514263606144
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM122514263606144
HP:0000407HP:0011476Profound sensorineural hearing impairment1RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM122514263606144
HP:0000407HP:0000408Progressive sensorineural hearing impairment1RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM122514263606144
HP:0000407HP:0008625Severe sensorineural hearing impairment1RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM122514263606144
HP:0000407HP:0000410Mixed hearing impairment1RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM11129801602048
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM11129801602048
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM11129801602048
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM11129801602048
HP:0000407HP:0008527Congenital sensorineural hearing impairment1RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM11129801602048
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM11129801602048
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM11129801602048
HP:0000407HP:0008587Mild neurosensory hearing impairment1RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM11129801602048
HP:0000407HP:0008504Moderate sensorineural hearing impairment1RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM11129801602048
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM11129801602048
HP:0000407HP:0011476Profound sensorineural hearing impairment1RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM11129801602048
HP:0000407HP:0000408Progressive sensorineural hearing impairment1RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM11129801602048
HP:0000407HP:0008625Severe sensorineural hearing impairment1RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM11129801602048
HP:0000407HP:0000410Mixed hearing impairment1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0000407HP:0008527Congenital sensorineural hearing impairment1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0000407HP:0008587Mild neurosensory hearing impairment1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0000407HP:0008504Moderate sensorineural hearing impairment1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0000407HP:0011476Profound sensorineural hearing impairment1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0000407HP:0000408Progressive sensorineural hearing impairment1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0000407HP:0008625Severe sensorineural hearing impairment1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0000407HP:0000410Mixed hearing impairment1RAP1A CL E G H59062322ORPHA1419855179520
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1RAP1A CL E G H59062322ORPHA1419855179520
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1RAP1A CL E G H59062322ORPHA1419855179520
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1RAP1A CL E G H59062322ORPHA1419855179520
HP:0000407HP:0008527Congenital sensorineural hearing impairment1RAP1A CL E G H59062322ORPHA1419855179520
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1RAP1A CL E G H59062322ORPHA1419855179520
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1RAP1A CL E G H59062322ORPHA1419855179520
HP:0000407HP:0008587Mild neurosensory hearing impairment1RAP1A CL E G H59062322ORPHA1419855179520
HP:0000407HP:0008504Moderate sensorineural hearing impairment1RAP1A CL E G H59062322ORPHA1419855179520
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1RAP1A CL E G H59062322ORPHA1419855179520
HP:0000407HP:0011476Profound sensorineural hearing impairment1RAP1A CL E G H59062322ORPHA1419855179520
HP:0000407HP:0000408Progressive sensorineural hearing impairment1RAP1A CL E G H59062322ORPHA1419855179520
HP:0000407HP:0008625Severe sensorineural hearing impairment1RAP1A CL E G H59062322ORPHA1419855179520
HP:0000407HP:0000410Mixed hearing impairment1RAP1B CL E G H59082322ORPHA1359857179530
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1RAP1B CL E G H59082322ORPHA1359857179530
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1RAP1B CL E G H59082322ORPHA1359857179530
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1RAP1B CL E G H59082322ORPHA1359857179530
HP:0000407HP:0008527Congenital sensorineural hearing impairment1RAP1B CL E G H59082322ORPHA1359857179530
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1RAP1B CL E G H59082322ORPHA1359857179530
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1RAP1B CL E G H59082322ORPHA1359857179530
HP:0000407HP:0008587Mild neurosensory hearing impairment1RAP1B CL E G H59082322ORPHA1359857179530
HP:0000407HP:0008504Moderate sensorineural hearing impairment1RAP1B CL E G H59082322ORPHA1359857179530
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1RAP1B CL E G H59082322ORPHA1359857179530
HP:0000407HP:0011476Profound sensorineural hearing impairment1RAP1B CL E G H59082322ORPHA1359857179530
HP:0000407HP:0000408Progressive sensorineural hearing impairment1RAP1B CL E G H59082322ORPHA1359857179530
HP:0000407HP:0008625Severe sensorineural hearing impairment1RAP1B CL E G H59082322ORPHA1359857179530
HP:0000407HP:0000410Mixed hearing impairment1RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110389921180290
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110389921180290
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110389921180290
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110389921180290
HP:0000407HP:0008527Congenital sensorineural hearing impairment1RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110389921180290
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110389921180290
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110389921180290
HP:0000407HP:0008587Mild neurosensory hearing impairment1RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110389921180290
HP:0000407HP:0008504Moderate sensorineural hearing impairment1RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110389921180290
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110389921180290
HP:0000407HP:0011476Profound sensorineural hearing impairment1RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110389921180290
HP:0000407HP:0000408Progressive sensorineural hearing impairment1RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110389921180290
HP:0000407HP:0008625Severe sensorineural hearing impairment1RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110389921180290
HP:0000407HP:0000410Mixed hearing impairment1RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149519977608830
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149519977608830
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149519977608830
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149519977608830
HP:0000407HP:0008527Congenital sensorineural hearing impairment1RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149519977608830
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149519977608830
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149519977608830
HP:0000407HP:0008587Mild neurosensory hearing impairment1RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149519977608830
HP:0000407HP:0008504Moderate sensorineural hearing impairment1RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149519977608830
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149519977608830
HP:0000407HP:0011476Profound sensorineural hearing impairment1RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149519977608830
HP:0000407HP:0000408Progressive sensorineural hearing impairment1RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149519977608830
HP:0000407HP:0008625Severe sensorineural hearing impairment1RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149519977608830
HP:0000407HP:0000410Mixed hearing impairment1REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA126630078609346
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA126630078609346
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA126630078609346
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA126630078609346
HP:0000407HP:0008527Congenital sensorineural hearing impairment1REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA126630078609346
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA126630078609346
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA126630078609346
HP:0000407HP:0008587Mild neurosensory hearing impairment1REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA126630078609346
HP:0000407HP:0008504Moderate sensorineural hearing impairment1REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA126630078609346
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA126630078609346
HP:0000407HP:0011476Profound sensorineural hearing impairment1REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA126630078609346
HP:0000407HP:0000408Progressive sensorineural hearing impairment1REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA126630078609346
HP:0000407HP:0008625Severe sensorineural hearing impairment1REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA126630078609346
HP:0000407HP:0000410Mixed hearing impairment1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0000407HP:0008527Congenital sensorineural hearing impairment1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0000407HP:0008587Mild neurosensory hearing impairment1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0000407HP:0008504Moderate sensorineural hearing impairment1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0000407HP:0011476Profound sensorineural hearing impairment1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0000407HP:0000408Progressive sensorineural hearing impairment1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0000407HP:0008625Severe sensorineural hearing impairment1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0000407HP:0000410Mixed hearing impairment1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0000407HP:0008527Congenital sensorineural hearing impairment1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0000407HP:0008587Mild neurosensory hearing impairment1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0000407HP:0008504Moderate sensorineural hearing impairment1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0000407HP:0011476Profound sensorineural hearing impairment1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0000407HP:0000408Progressive sensorineural hearing impairment1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0000407HP:0008625Severe sensorineural hearing impairment1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0000407HP:0000410Mixed hearing impairment1RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12799990600342
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12799990600342
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12799990600342
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12799990600342
HP:0000407HP:0008527Congenital sensorineural hearing impairment1RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12799990600342
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12799990600342
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12799990600342
HP:0000407HP:0008587Mild neurosensory hearing impairment1RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12799990600342
HP:0000407HP:0008504Moderate sensorineural hearing impairment1RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12799990600342
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12799990600342
HP:0000407HP:0011476Profound sensorineural hearing impairment1RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12799990600342
HP:0000407HP:0000408Progressive sensorineural hearing impairment1RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12799990600342
HP:0000407HP:0008625Severe sensorineural hearing impairment1RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12799990600342
HP:0000407HP:0000410Mixed hearing impairment1RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153710012180380
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153710012180380
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153710012180380
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153710012180380
HP:0000407HP:0008527Congenital sensorineural hearing impairment1RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153710012180380
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153710012180380
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153710012180380
HP:0000407HP:0008587Mild neurosensory hearing impairment1RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153710012180380
HP:0000407HP:0008504Moderate sensorineural hearing impairment1RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153710012180380
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153710012180380
HP:0000407HP:0011476Profound sensorineural hearing impairment1RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153710012180380
HP:0000407HP:0000408Progressive sensorineural hearing impairment1RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153710012180380
HP:0000407HP:0008625Severe sensorineural hearing impairment1RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153710012180380
HP:0000407HP:0000410Mixed hearing impairment1RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131410024180090
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131410024180090
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131410024180090
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131410024180090
HP:0000407HP:0008527Congenital sensorineural hearing impairment1RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131410024180090
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131410024180090
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131410024180090
HP:0000407HP:0008587Mild neurosensory hearing impairment1RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131410024180090
HP:0000407HP:0008504Moderate sensorineural hearing impairment1RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131410024180090
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131410024180090
HP:0000407HP:0011476Profound sensorineural hearing impairment1RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131410024180090
HP:0000407HP:0000408Progressive sensorineural hearing impairment1RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131410024180090
HP:0000407HP:0008625Severe sensorineural hearing impairment1RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131410024180090
HP:0000407HP:0000410Mixed hearing impairment1ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131110254180721
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131110254180721
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131110254180721
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131110254180721
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131110254180721
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131110254180721
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131110254180721
HP:0000407HP:0008587Mild neurosensory hearing impairment1ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131110254180721
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131110254180721
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131110254180721
HP:0000407HP:0011476Profound sensorineural hearing impairment1ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131110254180721
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131110254180721
HP:0000407HP:0008625Severe sensorineural hearing impairment1ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131110254180721
HP:0000407HP:0000410Mixed hearing impairment1RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1131810263603937
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1131810263603937
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1131810263603937
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1131810263603937
HP:0000407HP:0008527Congenital sensorineural hearing impairment1RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1131810263603937
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1131810263603937
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1131810263603937
HP:0000407HP:0008587Mild neurosensory hearing impairment1RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1131810263603937
HP:0000407HP:0008504Moderate sensorineural hearing impairment1RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1131810263603937
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1131810263603937
HP:0000407HP:0011476Profound sensorineural hearing impairment1RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1131810263603937
HP:0000407HP:0000408Progressive sensorineural hearing impairment1RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1131810263603937
HP:0000407HP:0008625Severe sensorineural hearing impairment1RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1131810263603937
HP:0000407HP:0000410Mixed hearing impairment1RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA148410274300757
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA148410274300757
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA148410274300757
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA148410274300757
HP:0000407HP:0008527Congenital sensorineural hearing impairment1RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA148410274300757
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA148410274300757
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA148410274300757
HP:0000407HP:0008587Mild neurosensory hearing impairment1RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA148410274300757
HP:0000407HP:0008504Moderate sensorineural hearing impairment1RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA148410274300757
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA148410274300757
HP:0000407HP:0011476Profound sensorineural hearing impairment1RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA148410274300757
HP:0000407HP:0000408Progressive sensorineural hearing impairment1RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA148410274300757
HP:0000407HP:0008625Severe sensorineural hearing impairment1RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA148410274300757
HP:0000407HP:0000410Mixed hearing impairment1RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA113210288607331
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA113210288607331
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA113210288607331
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA113210288607331
HP:0000407HP:0008527Congenital sensorineural hearing impairment1RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA113210288607331
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA113210288607331
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA113210288607331
HP:0000407HP:0008587Mild neurosensory hearing impairment1RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA113210288607331
HP:0000407HP:0008504Moderate sensorineural hearing impairment1RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA113210288607331
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA113210288607331
HP:0000407HP:0011476Profound sensorineural hearing impairment1RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA113210288607331
HP:0000407HP:0000408Progressive sensorineural hearing impairment1RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA113210288607331
HP:0000407HP:0008625Severe sensorineural hearing impairment1RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA113210288607331
HP:0000407HP:0000410Mixed hearing impairment1RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178310294180069
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178310294180069
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178310294180069
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178310294180069
HP:0000407HP:0008527Congenital sensorineural hearing impairment1RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178310294180069
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178310294180069
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178310294180069
HP:0000407HP:0008587Mild neurosensory hearing impairment1RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178310294180069
HP:0000407HP:0008504Moderate sensorineural hearing impairment1RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178310294180069
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178310294180069
HP:0000407HP:0011476Profound sensorineural hearing impairment1RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178310294180069
HP:0000407HP:0000408Progressive sensorineural hearing impairment1RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178310294180069
HP:0000407HP:0008625Severe sensorineural hearing impairment1RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178310294180069
HP:0000407HP:0000410Mixed hearing impairment1RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1143310295312610
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1143310295312610
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1143310295312610
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1143310295312610
HP:0000407HP:0008527Congenital sensorineural hearing impairment1RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1143310295312610
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1143310295312610
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1143310295312610
HP:0000407HP:0008587Mild neurosensory hearing impairment1RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1143310295312610
HP:0000407HP:0008504Moderate sensorineural hearing impairment1RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1143310295312610
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1143310295312610
HP:0000407HP:0011476Profound sensorineural hearing impairment1RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1143310295312610
HP:0000407HP:0000408Progressive sensorineural hearing impairment1RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1143310295312610
HP:0000407HP:0008625Severe sensorineural hearing impairment1RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1143310295312610
HP:0000407HP:0000410Mixed hearing impairment1RPL10 CL E G H6134435938ORPHA128110298312173
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1RPL10 CL E G H6134435938ORPHA128110298312173
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1RPL10 CL E G H6134435938ORPHA128110298312173
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1RPL10 CL E G H6134435938ORPHA128110298312173
HP:0000407HP:0008527Congenital sensorineural hearing impairment1RPL10 CL E G H6134435938ORPHA128110298312173
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1RPL10 CL E G H6134435938ORPHA128110298312173
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1RPL10 CL E G H6134435938ORPHA128110298312173
HP:0000407HP:0008587Mild neurosensory hearing impairment1RPL10 CL E G H6134435938ORPHA128110298312173
HP:0000407HP:0008504Moderate sensorineural hearing impairment1RPL10 CL E G H6134435938ORPHA128110298312173
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1RPL10 CL E G H6134435938ORPHA128110298312173
HP:0000407HP:0011476Profound sensorineural hearing impairment1RPL10 CL E G H6134435938ORPHA128110298312173
HP:0000407HP:0000408Progressive sensorineural hearing impairment1RPL10 CL E G H6134435938ORPHA128110298312173
HP:0000407HP:0008625Severe sensorineural hearing impairment1RPL10 CL E G H6134435938ORPHA128110298312173
HP:0000407HP:0000410Mixed hearing impairment1RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM151510432300075
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM151510432300075
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM151510432300075
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM151510432300075
HP:0000407HP:0008527Congenital sensorineural hearing impairment1RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM151510432300075
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM151510432300075
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM151510432300075
HP:0000407HP:0008587Mild neurosensory hearing impairment1RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM151510432300075
HP:0000407HP:0008504Moderate sensorineural hearing impairment1RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM151510432300075
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM151510432300075
HP:0000407HP:0011476Profound sensorineural hearing impairment1RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM151510432300075
HP:0000407HP:0000408Progressive sensorineural hearing impairment1RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM151510432300075
HP:0000407HP:0008625Severe sensorineural hearing impairment1RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM151510432300075
HP:0000407HP:0000410Mixed hearing impairment1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0000407HP:0008527Congenital sensorineural hearing impairment1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0000407HP:0008587Mild neurosensory hearing impairment1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0000407HP:0008504Moderate sensorineural hearing impairment1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0000407HP:0011476Profound sensorineural hearing impairment1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0000407HP:0000408Progressive sensorineural hearing impairment1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0000407HP:0008625Severe sensorineural hearing impairment1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0000407HP:0000410Mixed hearing impairment1S1PR2 CL E G H9294610419Deafness, autosomal recessive 68610419C1835854OMIM1943169605111
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1S1PR2 CL E G H9294610419Deafness, autosomal recessive 68610419C1835854OMIM1943169605111
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1S1PR2 CL E G H9294610419Deafness, autosomal recessive 68610419C1835854OMIM1943169605111
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1S1PR2 CL E G H9294610419Deafness, autosomal recessive 68610419C1835854OMIM1943169605111
HP:0000407HP:0008527Congenital sensorineural hearing impairment1S1PR2 CL E G H9294610419Deafness, autosomal recessive 68610419C1835854OMIM1943169605111
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1S1PR2 CL E G H9294610419Deafness, autosomal recessive 68610419C1835854OMIM1943169605111
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1S1PR2 CL E G H9294610419Deafness, autosomal recessive 68610419C1835854OMIM1943169605111
HP:0000407HP:0008587Mild neurosensory hearing impairment1S1PR2 CL E G H9294610419Deafness, autosomal recessive 68610419C1835854OMIM1943169605111
HP:0000407HP:0008504Moderate sensorineural hearing impairment1S1PR2 CL E G H9294610419Deafness, autosomal recessive 68610419C1835854OMIM1943169605111
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1S1PR2 CL E G H9294610419Deafness, autosomal recessive 68610419C1835854OMIM1943169605111
HP:0000407HP:0011476Profound sensorineural hearing impairment1S1PR2 CL E G H9294610419Deafness, autosomal recessive 68610419C1835854OMIM1943169605111
HP:0000407HP:0000408Progressive sensorineural hearing impairment1S1PR2 CL E G H9294610419Deafness, autosomal recessive 68610419C1835854OMIM1943169605111
HP:0000407HP:0008625Severe sensorineural hearing impairment1S1PR2 CL E G H9294610419Deafness, autosomal recessive 68610419C1835854OMIM1943169605111
HP:0000407HP:0000410Mixed hearing impairment1SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143010521181031
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143010521181031
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143010521181031
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143010521181031
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143010521181031
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143010521181031
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143010521181031
HP:0000407HP:0008587Mild neurosensory hearing impairment1SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143010521181031
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143010521181031
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143010521181031
HP:0000407HP:0011476Profound sensorineural hearing impairment1SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143010521181031
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143010521181031
HP:0000407HP:0008625Severe sensorineural hearing impairment1SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143010521181031
HP:0000407HP:0000410Mixed hearing impairment1SALL4 CL E G H57167959ORPHA130115924607343
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SALL4 CL E G H57167959ORPHA130115924607343
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SALL4 CL E G H57167959ORPHA130115924607343
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SALL4 CL E G H57167959ORPHA130115924607343
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SALL4 CL E G H57167959ORPHA130115924607343
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SALL4 CL E G H57167959ORPHA130115924607343
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SALL4 CL E G H57167959ORPHA130115924607343
HP:0000407HP:0008587Mild neurosensory hearing impairment1SALL4 CL E G H57167959ORPHA130115924607343
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SALL4 CL E G H57167959ORPHA130115924607343
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SALL4 CL E G H57167959ORPHA130115924607343
HP:0000407HP:0011476Profound sensorineural hearing impairment1SALL4 CL E G H57167959ORPHA130115924607343
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SALL4 CL E G H57167959ORPHA130115924607343
HP:0000407HP:0008625Severe sensorineural hearing impairment1SALL4 CL E G H57167959ORPHA130115924607343
HP:0000407HP:0000410Mixed hearing impairment1SALL4 CL E G H57167607323Duane-radial ray syndrome607323C1623209OMIM130115924607343
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SALL4 CL E G H57167607323Duane-radial ray syndrome607323C1623209OMIM130115924607343
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SALL4 CL E G H57167607323Duane-radial ray syndrome607323C1623209OMIM130115924607343
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SALL4 CL E G H57167607323Duane-radial ray syndrome607323C1623209OMIM130115924607343
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SALL4 CL E G H57167607323Duane-radial ray syndrome607323C1623209OMIM130115924607343
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SALL4 CL E G H57167607323Duane-radial ray syndrome607323C1623209OMIM130115924607343
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SALL4 CL E G H57167607323Duane-radial ray syndrome607323C1623209OMIM130115924607343
HP:0000407HP:0008587Mild neurosensory hearing impairment1SALL4 CL E G H57167607323Duane-radial ray syndrome607323C1623209OMIM130115924607343
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SALL4 CL E G H57167607323Duane-radial ray syndrome607323C1623209OMIM130115924607343
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SALL4 CL E G H57167607323Duane-radial ray syndrome607323C1623209OMIM130115924607343
HP:0000407HP:0011476Profound sensorineural hearing impairment1SALL4 CL E G H57167607323Duane-radial ray syndrome607323C1623209OMIM130115924607343
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SALL4 CL E G H57167607323Duane-radial ray syndrome607323C1623209OMIM130115924607343
HP:0000407HP:0008625Severe sensorineural hearing impairment1SALL4 CL E G H57167607323Duane-radial ray syndrome607323C1623209OMIM130115924607343
HP:0000407HP:0000410Mixed hearing impairment1SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM114562135607697
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM114562135607697
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM114562135607697
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM114562135607697
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM114562135607697
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM114562135607697
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM114562135607697
HP:0000407HP:0008587Mild neurosensory hearing impairment1SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM114562135607697
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM114562135607697
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM114562135607697
HP:0000407HP:0011476Profound sensorineural hearing impairment1SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM114562135607697
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM114562135607697
HP:0000407HP:0008625Severe sensorineural hearing impairment1SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM114562135607697
HP:0000407HP:0000410Mixed hearing impairment1SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA115713081611611
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA115713081611611
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA115713081611611
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA115713081611611
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA115713081611611
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA115713081611611
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA115713081611611
HP:0000407HP:0008587Mild neurosensory hearing impairment1SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA115713081611611
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA115713081611611
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA115713081611611
HP:0000407HP:0011476Profound sensorineural hearing impairment1SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA115713081611611
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA115713081611611
HP:0000407HP:0008625Severe sensorineural hearing impairment1SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA115713081611611
HP:0000407HP:0000410Mixed hearing impairment1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0000407HP:0008587Mild neurosensory hearing impairment1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0000407HP:0011476Profound sensorineural hearing impairment1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0000407HP:0008625Severe sensorineural hearing impairment1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0000407HP:0000410Mixed hearing impairment1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0000407HP:0008587Mild neurosensory hearing impairment1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0000407HP:0011476Profound sensorineural hearing impairment1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0000407HP:0008625Severe sensorineural hearing impairment1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0000407HP:0000410Mixed hearing impairment1SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153010729607292
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153010729607292
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153010729607292
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153010729607292
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153010729607292
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153010729607292
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153010729607292
HP:0000407HP:0008587Mild neurosensory hearing impairment1SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153010729607292
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153010729607292
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153010729607292
HP:0000407HP:0011476Profound sensorineural hearing impairment1SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153010729607292
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153010729607292
HP:0000407HP:0008625Severe sensorineural hearing impairment1SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153010729607292
HP:0000407HP:0000410Mixed hearing impairment1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0000407HP:0008587Mild neurosensory hearing impairment1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0000407HP:0011476Profound sensorineural hearing impairment1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0000407HP:0008625Severe sensorineural hearing impairment1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0000407HP:0000410Mixed hearing impairment1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0000407HP:0008587Mild neurosensory hearing impairment1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0000407HP:0011476Profound sensorineural hearing impairment1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0000407HP:0008625Severe sensorineural hearing impairment1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0000407HP:0000410Mixed hearing impairment1SIX1 CL E G H649552429ORPHA119510887601205
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SIX1 CL E G H649552429ORPHA119510887601205
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SIX1 CL E G H649552429ORPHA119510887601205
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SIX1 CL E G H649552429ORPHA119510887601205
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SIX1 CL E G H649552429ORPHA119510887601205
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SIX1 CL E G H649552429ORPHA119510887601205
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SIX1 CL E G H649552429ORPHA119510887601205
HP:0000407HP:0008587Mild neurosensory hearing impairment1SIX1 CL E G H649552429ORPHA119510887601205
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SIX1 CL E G H649552429ORPHA119510887601205
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SIX1 CL E G H649552429ORPHA119510887601205
HP:0000407HP:0011476Profound sensorineural hearing impairment1SIX1 CL E G H649552429ORPHA119510887601205
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SIX1 CL E G H649552429ORPHA119510887601205
HP:0000407HP:0008625Severe sensorineural hearing impairment1SIX1 CL E G H649552429ORPHA119510887601205
HP:0000407HP:0000410Mixed hearing impairment1SIX1 CL E G H6495608389Branchiootic syndrome 3608389C1842124OMIM119510887601205
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SIX1 CL E G H6495608389Branchiootic syndrome 3608389C1842124OMIM119510887601205
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SIX1 CL E G H6495608389Branchiootic syndrome 3608389C1842124OMIM119510887601205
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SIX1 CL E G H6495608389Branchiootic syndrome 3608389C1842124OMIM119510887601205
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SIX1 CL E G H6495608389Branchiootic syndrome 3608389C1842124OMIM119510887601205
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SIX1 CL E G H6495608389Branchiootic syndrome 3608389C1842124OMIM119510887601205
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SIX1 CL E G H6495608389Branchiootic syndrome 3608389C1842124OMIM119510887601205
HP:0000407HP:0008587Mild neurosensory hearing impairment1SIX1 CL E G H6495608389Branchiootic syndrome 3608389C1842124OMIM119510887601205
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SIX1 CL E G H6495608389Branchiootic syndrome 3608389C1842124OMIM119510887601205
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SIX1 CL E G H6495608389Branchiootic syndrome 3608389C1842124OMIM119510887601205
HP:0000407HP:0011476Profound sensorineural hearing impairment1SIX1 CL E G H6495608389Branchiootic syndrome 3608389C1842124OMIM119510887601205
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SIX1 CL E G H6495608389Branchiootic syndrome 3608389C1842124OMIM119510887601205
HP:0000407HP:0008625Severe sensorineural hearing impairment1SIX1 CL E G H6495608389Branchiootic syndrome 3608389C1842124OMIM119510887601205
HP:0000407HP:0000410Mixed hearing impairment1SIX1 CL E G H6495605192Deafness, autosomal dominant 23605192C1854594OMIM119510887601205
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SIX1 CL E G H6495605192Deafness, autosomal dominant 23605192C1854594OMIM119510887601205
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SIX1 CL E G H6495605192Deafness, autosomal dominant 23605192C1854594OMIM119510887601205
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SIX1 CL E G H6495605192Deafness, autosomal dominant 23605192C1854594OMIM119510887601205
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SIX1 CL E G H6495605192Deafness, autosomal dominant 23605192C1854594OMIM119510887601205
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SIX1 CL E G H6495605192Deafness, autosomal dominant 23605192C1854594OMIM119510887601205
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SIX1 CL E G H6495605192Deafness, autosomal dominant 23605192C1854594OMIM119510887601205
HP:0000407HP:0008587Mild neurosensory hearing impairment1SIX1 CL E G H6495605192Deafness, autosomal dominant 23605192C1854594OMIM119510887601205
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SIX1 CL E G H6495605192Deafness, autosomal dominant 23605192C1854594OMIM119510887601205
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SIX1 CL E G H6495605192Deafness, autosomal dominant 23605192C1854594OMIM119510887601205
HP:0000407HP:0011476Profound sensorineural hearing impairment1SIX1 CL E G H6495605192Deafness, autosomal dominant 23605192C1854594OMIM119510887601205
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SIX1 CL E G H6495605192Deafness, autosomal dominant 23605192C1854594OMIM119510887601205
HP:0000407HP:0008625Severe sensorineural hearing impairment1SIX1 CL E G H6495605192Deafness, autosomal dominant 23605192C1854594OMIM119510887601205
HP:0000407HP:0000410Mixed hearing impairment1SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM112810892606326
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM112810892606326
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM112810892606326
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM112810892606326
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM112810892606326
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM112810892606326
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM112810892606326
HP:0000407HP:0008587Mild neurosensory hearing impairment1SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM112810892606326
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM112810892606326
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM112810892606326
HP:0000407HP:0011476Profound sensorineural hearing impairment1SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM112810892606326
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM112810892606326
HP:0000407HP:0008625Severe sensorineural hearing impairment1SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM112810892606326
HP:0000407HP:0000410Mixed hearing impairment1SLC17A8 CL E G H246213605583Deafness, autosomal dominant 25605583C1854158OMIM126120151607557
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SLC17A8 CL E G H246213605583Deafness, autosomal dominant 25605583C1854158OMIM126120151607557
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SLC17A8 CL E G H246213605583Deafness, autosomal dominant 25605583C1854158OMIM126120151607557
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SLC17A8 CL E G H246213605583Deafness, autosomal dominant 25605583C1854158OMIM126120151607557
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SLC17A8 CL E G H246213605583Deafness, autosomal dominant 25605583C1854158OMIM126120151607557
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SLC17A8 CL E G H246213605583Deafness, autosomal dominant 25605583C1854158OMIM126120151607557
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SLC17A8 CL E G H246213605583Deafness, autosomal dominant 25605583C1854158OMIM126120151607557
HP:0000407HP:0008587Mild neurosensory hearing impairment1SLC17A8 CL E G H246213605583Deafness, autosomal dominant 25605583C1854158OMIM126120151607557
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SLC17A8 CL E G H246213605583Deafness, autosomal dominant 25605583C1854158OMIM126120151607557
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SLC17A8 CL E G H246213605583Deafness, autosomal dominant 25605583C1854158OMIM126120151607557
HP:0000407HP:0011476Profound sensorineural hearing impairment1SLC17A8 CL E G H246213605583Deafness, autosomal dominant 25605583C1854158OMIM126120151607557
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SLC17A8 CL E G H246213605583Deafness, autosomal dominant 25605583C1854158OMIM126120151607557
HP:0000407HP:0008625Severe sensorineural hearing impairment1SLC17A8 CL E G H246213605583Deafness, autosomal dominant 25605583C1854158OMIM126120151607557
HP:0000407HP:0000410Mixed hearing impairment1SLC19A2 CL E G H1056049827ORPHA124610938603941
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SLC19A2 CL E G H1056049827ORPHA124610938603941
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SLC19A2 CL E G H1056049827ORPHA124610938603941
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SLC19A2 CL E G H1056049827ORPHA124610938603941
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SLC19A2 CL E G H1056049827ORPHA124610938603941
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SLC19A2 CL E G H1056049827ORPHA124610938603941
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SLC19A2 CL E G H1056049827ORPHA124610938603941
HP:0000407HP:0008587Mild neurosensory hearing impairment1SLC19A2 CL E G H1056049827ORPHA124610938603941
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SLC19A2 CL E G H1056049827ORPHA124610938603941
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SLC19A2 CL E G H1056049827ORPHA124610938603941
HP:0000407HP:0011476Profound sensorineural hearing impairment1SLC19A2 CL E G H1056049827ORPHA124610938603941
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SLC19A2 CL E G H1056049827ORPHA124610938603941
HP:0000407HP:0008625Severe sensorineural hearing impairment1SLC19A2 CL E G H1056049827ORPHA124610938603941
HP:0000407HP:0000410Mixed hearing impairment1SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM124610938603941
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM124610938603941
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM124610938603941
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM124610938603941
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM124610938603941
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM124610938603941
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM124610938603941
HP:0000407HP:0008587Mild neurosensory hearing impairment1SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM124610938603941
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM124610938603941
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM124610938603941
HP:0000407HP:0011476Profound sensorineural hearing impairment1SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM124610938603941
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM124610938603941
HP:0000407HP:0008625Severe sensorineural hearing impairment1SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM124610938603941
HP:0000407HP:0000410Mixed hearing impairment1SLC26A4 CL E G H5172705ORPHA112228818605646
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SLC26A4 CL E G H5172705ORPHA112228818605646
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SLC26A4 CL E G H5172705ORPHA112228818605646
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SLC26A4 CL E G H5172705ORPHA112228818605646
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SLC26A4 CL E G H5172705ORPHA112228818605646
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SLC26A4 CL E G H5172705ORPHA112228818605646
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SLC26A4 CL E G H5172705ORPHA112228818605646
HP:0000407HP:0008587Mild neurosensory hearing impairment1SLC26A4 CL E G H5172705ORPHA112228818605646
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SLC26A4 CL E G H5172705ORPHA112228818605646
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SLC26A4 CL E G H5172705ORPHA112228818605646
HP:0000407HP:0011476Profound sensorineural hearing impairment1SLC26A4 CL E G H5172705ORPHA112228818605646
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SLC26A4 CL E G H5172705ORPHA112228818605646
HP:0000407HP:0008625Severe sensorineural hearing impairment1SLC26A4 CL E G H5172705ORPHA112228818605646
HP:0000407HP:0000410Mixed hearing impairment1SLC26A4 CL E G H5172600791Enlarged vestibular aqueduct600791C1863752OMIM112228818605646
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SLC26A4 CL E G H5172600791Enlarged vestibular aqueduct600791C1863752OMIM112228818605646
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SLC26A4 CL E G H5172600791Enlarged vestibular aqueduct600791C1863752OMIM112228818605646
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SLC26A4 CL E G H5172600791Enlarged vestibular aqueduct600791C1863752OMIM112228818605646
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SLC26A4 CL E G H5172600791Enlarged vestibular aqueduct600791C1863752OMIM112228818605646
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SLC26A4 CL E G H5172600791Enlarged vestibular aqueduct600791C1863752OMIM112228818605646
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SLC26A4 CL E G H5172600791Enlarged vestibular aqueduct600791C1863752OMIM112228818605646
HP:0000407HP:0008587Mild neurosensory hearing impairment1SLC26A4 CL E G H5172600791Enlarged vestibular aqueduct600791C1863752OMIM112228818605646
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SLC26A4 CL E G H5172600791Enlarged vestibular aqueduct600791C1863752OMIM112228818605646
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SLC26A4 CL E G H5172600791Enlarged vestibular aqueduct600791C1863752OMIM112228818605646
HP:0000407HP:0011476Profound sensorineural hearing impairment1SLC26A4 CL E G H5172600791Enlarged vestibular aqueduct600791C1863752OMIM112228818605646
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SLC26A4 CL E G H5172600791Enlarged vestibular aqueduct600791C1863752OMIM112228818605646
HP:0000407HP:0008625Severe sensorineural hearing impairment1SLC26A4 CL E G H5172600791Enlarged vestibular aqueduct600791C1863752OMIM112228818605646
HP:0000407HP:0000410Mixed hearing impairment1SLC26A5 CL E G H375611613865Deafness, autosomal recessive 61613865C3151230OMIM12209359604943
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SLC26A5 CL E G H375611613865Deafness, autosomal recessive 61613865C3151230OMIM12209359604943
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SLC26A5 CL E G H375611613865Deafness, autosomal recessive 61613865C3151230OMIM12209359604943
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SLC26A5 CL E G H375611613865Deafness, autosomal recessive 61613865C3151230OMIM12209359604943
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SLC26A5 CL E G H375611613865Deafness, autosomal recessive 61613865C3151230OMIM12209359604943
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SLC26A5 CL E G H375611613865Deafness, autosomal recessive 61613865C3151230OMIM12209359604943
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SLC26A5 CL E G H375611613865Deafness, autosomal recessive 61613865C3151230OMIM12209359604943
HP:0000407HP:0008587Mild neurosensory hearing impairment1SLC26A5 CL E G H375611613865Deafness, autosomal recessive 61613865C3151230OMIM12209359604943
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SLC26A5 CL E G H375611613865Deafness, autosomal recessive 61613865C3151230OMIM12209359604943
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SLC26A5 CL E G H375611613865Deafness, autosomal recessive 61613865C3151230OMIM12209359604943
HP:0000407HP:0011476Profound sensorineural hearing impairment1SLC26A5 CL E G H375611613865Deafness, autosomal recessive 61613865C3151230OMIM12209359604943
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SLC26A5 CL E G H375611613865Deafness, autosomal recessive 61613865C3151230OMIM12209359604943
HP:0000407HP:0008625Severe sensorineural hearing impairment1SLC26A5 CL E G H375611613865Deafness, autosomal recessive 61613865C3151230OMIM12209359604943
HP:0000407HP:0000410Mixed hearing impairment1SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM144723096612373
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM144723096612373
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM144723096612373
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM144723096612373
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM144723096612373
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM144723096612373
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM144723096612373
HP:0000407HP:0008587Mild neurosensory hearing impairment1SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM144723096612373
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM144723096612373
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM144723096612373
HP:0000407HP:0011476Profound sensorineural hearing impairment1SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM144723096612373
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM144723096612373
HP:0000407HP:0008625Severe sensorineural hearing impairment1SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM144723096612373
HP:0000407HP:0000410Mixed hearing impairment1SLC39A14 CL E G H23516144755Hyperostosis cranialis interna144755C1840404OMIM127020858608736
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SLC39A14 CL E G H23516144755Hyperostosis cranialis interna144755C1840404OMIM127020858608736
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SLC39A14 CL E G H23516144755Hyperostosis cranialis interna144755C1840404OMIM127020858608736
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SLC39A14 CL E G H23516144755Hyperostosis cranialis interna144755C1840404OMIM127020858608736
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SLC39A14 CL E G H23516144755Hyperostosis cranialis interna144755C1840404OMIM127020858608736
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SLC39A14 CL E G H23516144755Hyperostosis cranialis interna144755C1840404OMIM127020858608736
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SLC39A14 CL E G H23516144755Hyperostosis cranialis interna144755C1840404OMIM127020858608736
HP:0000407HP:0008587Mild neurosensory hearing impairment1SLC39A14 CL E G H23516144755Hyperostosis cranialis interna144755C1840404OMIM127020858608736
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SLC39A14 CL E G H23516144755Hyperostosis cranialis interna144755C1840404OMIM127020858608736
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SLC39A14 CL E G H23516144755Hyperostosis cranialis interna144755C1840404OMIM127020858608736
HP:0000407HP:0011476Profound sensorineural hearing impairment1SLC39A14 CL E G H23516144755Hyperostosis cranialis interna144755C1840404OMIM127020858608736
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SLC39A14 CL E G H23516144755Hyperostosis cranialis interna144755C1840404OMIM127020858608736
HP:0000407HP:0008625Severe sensorineural hearing impairment1SLC39A14 CL E G H23516144755Hyperostosis cranialis interna144755C1840404OMIM127020858608736
HP:0000407HP:0000410Mixed hearing impairment1SLC44A4 CL E G H80736617606DEAFNESS, AUTOSOMAL DOMINANT 72617606C4539886OMIM117013941606107
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SLC44A4 CL E G H80736617606DEAFNESS, AUTOSOMAL DOMINANT 72617606C4539886OMIM117013941606107
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SLC44A4 CL E G H80736617606DEAFNESS, AUTOSOMAL DOMINANT 72617606C4539886OMIM117013941606107
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SLC44A4 CL E G H80736617606DEAFNESS, AUTOSOMAL DOMINANT 72617606C4539886OMIM117013941606107
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SLC44A4 CL E G H80736617606DEAFNESS, AUTOSOMAL DOMINANT 72617606C4539886OMIM117013941606107
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SLC44A4 CL E G H80736617606DEAFNESS, AUTOSOMAL DOMINANT 72617606C4539886OMIM117013941606107
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SLC44A4 CL E G H80736617606DEAFNESS, AUTOSOMAL DOMINANT 72617606C4539886OMIM117013941606107
HP:0000407HP:0008587Mild neurosensory hearing impairment1SLC44A4 CL E G H80736617606DEAFNESS, AUTOSOMAL DOMINANT 72617606C4539886OMIM117013941606107
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SLC44A4 CL E G H80736617606DEAFNESS, AUTOSOMAL DOMINANT 72617606C4539886OMIM117013941606107
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SLC44A4 CL E G H80736617606DEAFNESS, AUTOSOMAL DOMINANT 72617606C4539886OMIM117013941606107
HP:0000407HP:0011476Profound sensorineural hearing impairment1SLC44A4 CL E G H80736617606DEAFNESS, AUTOSOMAL DOMINANT 72617606C4539886OMIM117013941606107
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SLC44A4 CL E G H80736617606DEAFNESS, AUTOSOMAL DOMINANT 72617606C4539886OMIM117013941606107
HP:0000407HP:0008625Severe sensorineural hearing impairment1SLC44A4 CL E G H80736617606DEAFNESS, AUTOSOMAL DOMINANT 72617606C4539886OMIM117013941606107
HP:0000407HP:0000410Mixed hearing impairment1SLC4A11 CL E G H839591490Congenital ichtyosiform erythrodermaORPHA180916438610206
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SLC4A11 CL E G H839591490Congenital ichtyosiform erythrodermaORPHA180916438610206
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SLC4A11 CL E G H839591490Congenital ichtyosiform erythrodermaORPHA180916438610206
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SLC4A11 CL E G H839591490Congenital ichtyosiform erythrodermaORPHA180916438610206
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SLC4A11 CL E G H839591490Congenital ichtyosiform erythrodermaORPHA180916438610206
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SLC4A11 CL E G H839591490Congenital ichtyosiform erythrodermaORPHA180916438610206
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SLC4A11 CL E G H839591490Congenital ichtyosiform erythrodermaORPHA180916438610206
HP:0000407HP:0008587Mild neurosensory hearing impairment1SLC4A11 CL E G H839591490Congenital ichtyosiform erythrodermaORPHA180916438610206
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SLC4A11 CL E G H839591490Congenital ichtyosiform erythrodermaORPHA180916438610206
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SLC4A11 CL E G H839591490Congenital ichtyosiform erythrodermaORPHA180916438610206
HP:0000407HP:0011476Profound sensorineural hearing impairment1SLC4A11 CL E G H839591490Congenital ichtyosiform erythrodermaORPHA180916438610206
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SLC4A11 CL E G H839591490Congenital ichtyosiform erythrodermaORPHA180916438610206
HP:0000407HP:0008625Severe sensorineural hearing impairment1SLC4A11 CL E G H839591490Congenital ichtyosiform erythrodermaORPHA180916438610206
HP:0000407HP:0000410Mixed hearing impairment1SLC4A11 CL E G H83959217400Corneal dystrophy and perceptive deafness217400C1857572OMIM180916438610206
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SLC4A11 CL E G H83959217400Corneal dystrophy and perceptive deafness217400C1857572OMIM180916438610206
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SLC4A11 CL E G H83959217400Corneal dystrophy and perceptive deafness217400C1857572OMIM180916438610206
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SLC4A11 CL E G H83959217400Corneal dystrophy and perceptive deafness217400C1857572OMIM180916438610206
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SLC4A11 CL E G H83959217400Corneal dystrophy and perceptive deafness217400C1857572OMIM180916438610206
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SLC4A11 CL E G H83959217400Corneal dystrophy and perceptive deafness217400C1857572OMIM180916438610206
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SLC4A11 CL E G H83959217400Corneal dystrophy and perceptive deafness217400C1857572OMIM180916438610206
HP:0000407HP:0008587Mild neurosensory hearing impairment1SLC4A11 CL E G H83959217400Corneal dystrophy and perceptive deafness217400C1857572OMIM180916438610206
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SLC4A11 CL E G H83959217400Corneal dystrophy and perceptive deafness217400C1857572OMIM180916438610206
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SLC4A11 CL E G H83959217400Corneal dystrophy and perceptive deafness217400C1857572OMIM180916438610206
HP:0000407HP:0011476Profound sensorineural hearing impairment1SLC4A11 CL E G H83959217400Corneal dystrophy and perceptive deafness217400C1857572OMIM180916438610206
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SLC4A11 CL E G H83959217400Corneal dystrophy and perceptive deafness217400C1857572OMIM180916438610206
HP:0000407HP:0008625Severe sensorineural hearing impairment1SLC4A11 CL E G H83959217400Corneal dystrophy and perceptive deafness217400C1857572OMIM180916438610206
HP:0000407HP:0000410Mixed hearing impairment1SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM152030224607882
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM152030224607882
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM152030224607882
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM152030224607882
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM152030224607882
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM152030224607882
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM152030224607882
HP:0000407HP:0008587Mild neurosensory hearing impairment1SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM152030224607882
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM152030224607882
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM152030224607882
HP:0000407HP:0011476Profound sensorineural hearing impairment1SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM152030224607882
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM152030224607882
HP:0000407HP:0008625Severe sensorineural hearing impairment1SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM152030224607882
HP:0000407HP:0000410Mixed hearing impairment1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0000407HP:0008587Mild neurosensory hearing impairment1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0000407HP:0011476Profound sensorineural hearing impairment1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0000407HP:0008625Severe sensorineural hearing impairment1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0000407HP:0000410Mixed hearing impairment1SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA146129326615720
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA146129326615720
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA146129326615720
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA146129326615720
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA146129326615720
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA146129326615720
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA146129326615720
HP:0000407HP:0008587Mild neurosensory hearing impairment1SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA146129326615720
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA146129326615720
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA146129326615720
HP:0000407HP:0011476Profound sensorineural hearing impairment1SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA146129326615720
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA146129326615720
HP:0000407HP:0008625Severe sensorineural hearing impairment1SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA146129326615720
HP:0000407HP:0000410Mixed hearing impairment1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0000407HP:0008587Mild neurosensory hearing impairment1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0000407HP:0011476Profound sensorineural hearing impairment1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0000407HP:0008625Severe sensorineural hearing impairment1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0000407HP:0000410Mixed hearing impairment1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0000407HP:0008587Mild neurosensory hearing impairment1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0000407HP:0011476Profound sensorineural hearing impairment1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0000407HP:0008625Severe sensorineural hearing impairment1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0000407HP:0000410Mixed hearing impairment1SMCHD1 CL E G H23347269ORPHA1134129090614982
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SMCHD1 CL E G H23347269ORPHA1134129090614982
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SMCHD1 CL E G H23347269ORPHA1134129090614982
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SMCHD1 CL E G H23347269ORPHA1134129090614982
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SMCHD1 CL E G H23347269ORPHA1134129090614982
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SMCHD1 CL E G H23347269ORPHA1134129090614982
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SMCHD1 CL E G H23347269ORPHA1134129090614982
HP:0000407HP:0008587Mild neurosensory hearing impairment1SMCHD1 CL E G H23347269ORPHA1134129090614982
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SMCHD1 CL E G H23347269ORPHA1134129090614982
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SMCHD1 CL E G H23347269ORPHA1134129090614982
HP:0000407HP:0011476Profound sensorineural hearing impairment1SMCHD1 CL E G H23347269ORPHA1134129090614982
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SMCHD1 CL E G H23347269ORPHA1134129090614982
HP:0000407HP:0008625Severe sensorineural hearing impairment1SMCHD1 CL E G H23347269ORPHA1134129090614982
HP:0000407HP:0000410Mixed hearing impairment1SMPX CL E G H23676300066Deafness, X-linked 4300066C1848204OMIM121711122300226
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SMPX CL E G H23676300066Deafness, X-linked 4300066C1848204OMIM121711122300226
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SMPX CL E G H23676300066Deafness, X-linked 4300066C1848204OMIM121711122300226
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SMPX CL E G H23676300066Deafness, X-linked 4300066C1848204OMIM121711122300226
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SMPX CL E G H23676300066Deafness, X-linked 4300066C1848204OMIM121711122300226
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SMPX CL E G H23676300066Deafness, X-linked 4300066C1848204OMIM121711122300226
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SMPX CL E G H23676300066Deafness, X-linked 4300066C1848204OMIM121711122300226
HP:0000407HP:0008587Mild neurosensory hearing impairment1SMPX CL E G H23676300066Deafness, X-linked 4300066C1848204OMIM121711122300226
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SMPX CL E G H23676300066Deafness, X-linked 4300066C1848204OMIM121711122300226
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SMPX CL E G H23676300066Deafness, X-linked 4300066C1848204OMIM121711122300226
HP:0000407HP:0011476Profound sensorineural hearing impairment1SMPX CL E G H23676300066Deafness, X-linked 4300066C1848204OMIM121711122300226
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SMPX CL E G H23676300066Deafness, X-linked 4300066C1848204OMIM121711122300226
HP:0000407HP:0008625Severe sensorineural hearing impairment1SMPX CL E G H23676300066Deafness, X-linked 4300066C1848204OMIM121711122300226
HP:0000407HP:0000410Mixed hearing impairment1SNAI2 CL E G H6591895ORPHA110111094602150
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SNAI2 CL E G H6591895ORPHA110111094602150
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SNAI2 CL E G H6591895ORPHA110111094602150
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SNAI2 CL E G H6591895ORPHA110111094602150
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SNAI2 CL E G H6591895ORPHA110111094602150
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SNAI2 CL E G H6591895ORPHA110111094602150
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SNAI2 CL E G H6591895ORPHA110111094602150
HP:0000407HP:0008587Mild neurosensory hearing impairment1SNAI2 CL E G H6591895ORPHA110111094602150
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SNAI2 CL E G H6591895ORPHA110111094602150
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SNAI2 CL E G H6591895ORPHA110111094602150
HP:0000407HP:0011476Profound sensorineural hearing impairment1SNAI2 CL E G H6591895ORPHA110111094602150
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SNAI2 CL E G H6591895ORPHA110111094602150
HP:0000407HP:0008625Severe sensorineural hearing impairment1SNAI2 CL E G H6591895ORPHA110111094602150
HP:0000407HP:0000410Mixed hearing impairment1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0000407HP:0008587Mild neurosensory hearing impairment1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0000407HP:0011476Profound sensorineural hearing impairment1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0000407HP:0008625Severe sensorineural hearing impairment1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0000407HP:0000410Mixed hearing impairment1SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1107330859601664
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1107330859601664
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1107330859601664
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1107330859601664
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1107330859601664
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1107330859601664
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1107330859601664
HP:0000407HP:0008587Mild neurosensory hearing impairment1SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1107330859601664
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1107330859601664
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1107330859601664
HP:0000407HP:0011476Profound sensorineural hearing impairment1SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1107330859601664
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1107330859601664
HP:0000407HP:0008625Severe sensorineural hearing impairment1SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1107330859601664
HP:0000407HP:0000410Mixed hearing impairment1SOST CL E G H509643152Kuster syndromeORPHA19913771605740
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SOST CL E G H509643152Kuster syndromeORPHA19913771605740
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SOST CL E G H509643152Kuster syndromeORPHA19913771605740
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SOST CL E G H509643152Kuster syndromeORPHA19913771605740
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SOST CL E G H509643152Kuster syndromeORPHA19913771605740
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SOST CL E G H509643152Kuster syndromeORPHA19913771605740
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SOST CL E G H509643152Kuster syndromeORPHA19913771605740
HP:0000407HP:0008587Mild neurosensory hearing impairment1SOST CL E G H509643152Kuster syndromeORPHA19913771605740
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SOST CL E G H509643152Kuster syndromeORPHA19913771605740
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SOST CL E G H509643152Kuster syndromeORPHA19913771605740
HP:0000407HP:0011476Profound sensorineural hearing impairment1SOST CL E G H509643152Kuster syndromeORPHA19913771605740
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SOST CL E G H509643152Kuster syndromeORPHA19913771605740
HP:0000407HP:0008625Severe sensorineural hearing impairment1SOST CL E G H509643152Kuster syndromeORPHA19913771605740
HP:0000407HP:0000410Mixed hearing impairment1SOST CL E G H509643416Mathieu De Broca Bony syndromeORPHA19913771605740
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SOST CL E G H509643416Mathieu De Broca Bony syndromeORPHA19913771605740
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SOST CL E G H509643416Mathieu De Broca Bony syndromeORPHA19913771605740
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SOST CL E G H509643416Mathieu De Broca Bony syndromeORPHA19913771605740
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SOST CL E G H509643416Mathieu De Broca Bony syndromeORPHA19913771605740
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SOST CL E G H509643416Mathieu De Broca Bony syndromeORPHA19913771605740
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SOST CL E G H509643416Mathieu De Broca Bony syndromeORPHA19913771605740
HP:0000407HP:0008587Mild neurosensory hearing impairment1SOST CL E G H509643416Mathieu De Broca Bony syndromeORPHA19913771605740
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SOST CL E G H509643416Mathieu De Broca Bony syndromeORPHA19913771605740
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SOST CL E G H509643416Mathieu De Broca Bony syndromeORPHA19913771605740
HP:0000407HP:0011476Profound sensorineural hearing impairment1SOST CL E G H509643416Mathieu De Broca Bony syndromeORPHA19913771605740
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SOST CL E G H509643416Mathieu De Broca Bony syndromeORPHA19913771605740
HP:0000407HP:0008625Severe sensorineural hearing impairment1SOST CL E G H509643416Mathieu De Broca Bony syndromeORPHA19913771605740
HP:0000407HP:0000410Mixed hearing impairment1SOX10 CL E G H6663895ORPHA137811190602229
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SOX10 CL E G H6663895ORPHA137811190602229
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SOX10 CL E G H6663895ORPHA137811190602229
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SOX10 CL E G H6663895ORPHA137811190602229
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SOX10 CL E G H6663895ORPHA137811190602229
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SOX10 CL E G H6663895ORPHA137811190602229
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SOX10 CL E G H6663895ORPHA137811190602229
HP:0000407HP:0008587Mild neurosensory hearing impairment1SOX10 CL E G H6663895ORPHA137811190602229
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SOX10 CL E G H6663895ORPHA137811190602229
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SOX10 CL E G H6663895ORPHA137811190602229
HP:0000407HP:0011476Profound sensorineural hearing impairment1SOX10 CL E G H6663895ORPHA137811190602229
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SOX10 CL E G H6663895ORPHA137811190602229
HP:0000407HP:0008625Severe sensorineural hearing impairment1SOX10 CL E G H6663895ORPHA137811190602229
HP:0000407HP:0000410Mixed hearing impairment1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0000407HP:0008587Mild neurosensory hearing impairment1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0000407HP:0011476Profound sensorineural hearing impairment1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0000407HP:0008625Severe sensorineural hearing impairment1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0000407HP:0000410Mixed hearing impairment1SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0000407HP:0008587Mild neurosensory hearing impairment1SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0000407HP:0011476Profound sensorineural hearing impairment1SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0000407HP:0008625Severe sensorineural hearing impairment1SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0000407HP:0000410Mixed hearing impairment1SOX10 CL E G H6663613266Waardenburg syndrome type 4C613266C2750452OMIM137811190602229
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SOX10 CL E G H6663613266Waardenburg syndrome type 4C613266C2750452OMIM137811190602229
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SOX10 CL E G H6663613266Waardenburg syndrome type 4C613266C2750452OMIM137811190602229
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SOX10 CL E G H6663613266Waardenburg syndrome type 4C613266C2750452OMIM137811190602229
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SOX10 CL E G H6663613266Waardenburg syndrome type 4C613266C2750452OMIM137811190602229
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SOX10 CL E G H6663613266Waardenburg syndrome type 4C613266C2750452OMIM137811190602229
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SOX10 CL E G H6663613266Waardenburg syndrome type 4C613266C2750452OMIM137811190602229
HP:0000407HP:0008587Mild neurosensory hearing impairment1SOX10 CL E G H6663613266Waardenburg syndrome type 4C613266C2750452OMIM137811190602229
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SOX10 CL E G H6663613266Waardenburg syndrome type 4C613266C2750452OMIM137811190602229
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SOX10 CL E G H6663613266Waardenburg syndrome type 4C613266C2750452OMIM137811190602229
HP:0000407HP:0011476Profound sensorineural hearing impairment1SOX10 CL E G H6663613266Waardenburg syndrome type 4C613266C2750452OMIM137811190602229
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SOX10 CL E G H6663613266Waardenburg syndrome type 4C613266C2750452OMIM137811190602229
HP:0000407HP:0008625Severe sensorineural hearing impairment1SOX10 CL E G H6663613266Waardenburg syndrome type 4C613266C2750452OMIM137811190602229
HP:0000407HP:0000410Mixed hearing impairment1SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM121111195184429
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM121111195184429
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM121111195184429
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM121111195184429
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM121111195184429
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM121111195184429
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM121111195184429
HP:0000407HP:0008587Mild neurosensory hearing impairment1SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM121111195184429
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM121111195184429
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM121111195184429
HP:0000407HP:0011476Profound sensorineural hearing impairment1SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM121111195184429
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM121111195184429
HP:0000407HP:0008625Severe sensorineural hearing impairment1SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM121111195184429
HP:0000407HP:0000410Mixed hearing impairment1SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0000407HP:0008587Mild neurosensory hearing impairment1SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0000407HP:0011476Profound sensorineural hearing impairment1SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0000407HP:0008625Severe sensorineural hearing impairment1SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0000407HP:0000410Mixed hearing impairment1SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143220423609868
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143220423609868
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143220423609868
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143220423609868
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143220423609868
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143220423609868
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143220423609868
HP:0000407HP:0008587Mild neurosensory hearing impairment1SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143220423609868
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143220423609868
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143220423609868
HP:0000407HP:0011476Profound sensorineural hearing impairment1SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143220423609868
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143220423609868
HP:0000407HP:0008625Severe sensorineural hearing impairment1SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143220423609868
HP:0000407HP:0000410Mixed hearing impairment1SPTLC1 CL E G H10558162400Neuropathy hereditary sensory and autonomic type 1162400C0020071OMIM139111277605712
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SPTLC1 CL E G H10558162400Neuropathy hereditary sensory and autonomic type 1162400C0020071OMIM139111277605712
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SPTLC1 CL E G H10558162400Neuropathy hereditary sensory and autonomic type 1162400C0020071OMIM139111277605712
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SPTLC1 CL E G H10558162400Neuropathy hereditary sensory and autonomic type 1162400C0020071OMIM139111277605712
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SPTLC1 CL E G H10558162400Neuropathy hereditary sensory and autonomic type 1162400C0020071OMIM139111277605712
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SPTLC1 CL E G H10558162400Neuropathy hereditary sensory and autonomic type 1162400C0020071OMIM139111277605712
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SPTLC1 CL E G H10558162400Neuropathy hereditary sensory and autonomic type 1162400C0020071OMIM139111277605712
HP:0000407HP:0008587Mild neurosensory hearing impairment1SPTLC1 CL E G H10558162400Neuropathy hereditary sensory and autonomic type 1162400C0020071OMIM139111277605712
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SPTLC1 CL E G H10558162400Neuropathy hereditary sensory and autonomic type 1162400C0020071OMIM139111277605712
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SPTLC1 CL E G H10558162400Neuropathy hereditary sensory and autonomic type 1162400C0020071OMIM139111277605712
HP:0000407HP:0011476Profound sensorineural hearing impairment1SPTLC1 CL E G H10558162400Neuropathy hereditary sensory and autonomic type 1162400C0020071OMIM139111277605712
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SPTLC1 CL E G H10558162400Neuropathy hereditary sensory and autonomic type 1162400C0020071OMIM139111277605712
HP:0000407HP:0008625Severe sensorineural hearing impairment1SPTLC1 CL E G H10558162400Neuropathy hereditary sensory and autonomic type 1162400C0020071OMIM139111277605712
HP:0000407HP:0000410Mixed hearing impairment1STRC CL E G H16149794064ORPHA130416035606440
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1STRC CL E G H16149794064ORPHA130416035606440
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1STRC CL E G H16149794064ORPHA130416035606440
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1STRC CL E G H16149794064ORPHA130416035606440
HP:0000407HP:0008527Congenital sensorineural hearing impairment1STRC CL E G H16149794064ORPHA130416035606440
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1STRC CL E G H16149794064ORPHA130416035606440
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1STRC CL E G H16149794064ORPHA130416035606440
HP:0000407HP:0008587Mild neurosensory hearing impairment1STRC CL E G H16149794064ORPHA130416035606440
HP:0000407HP:0008504Moderate sensorineural hearing impairment1STRC CL E G H16149794064ORPHA130416035606440
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1STRC CL E G H16149794064ORPHA130416035606440
HP:0000407HP:0011476Profound sensorineural hearing impairment1STRC CL E G H16149794064ORPHA130416035606440
HP:0000407HP:0000408Progressive sensorineural hearing impairment1STRC CL E G H16149794064ORPHA130416035606440
HP:0000407HP:0008625Severe sensorineural hearing impairment1STRC CL E G H16149794064ORPHA130416035606440
HP:0000407HP:0000410Mixed hearing impairment1STRC CL E G H161497603720Deafness, autosomal recessive 16603720C1863561OMIM130416035606440
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1STRC CL E G H161497603720Deafness, autosomal recessive 16603720C1863561OMIM130416035606440
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1STRC CL E G H161497603720Deafness, autosomal recessive 16603720C1863561OMIM130416035606440
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1STRC CL E G H161497603720Deafness, autosomal recessive 16603720C1863561OMIM130416035606440
HP:0000407HP:0008527Congenital sensorineural hearing impairment1STRC CL E G H161497603720Deafness, autosomal recessive 16603720C1863561OMIM130416035606440
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1STRC CL E G H161497603720Deafness, autosomal recessive 16603720C1863561OMIM130416035606440
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1STRC CL E G H161497603720Deafness, autosomal recessive 16603720C1863561OMIM130416035606440
HP:0000407HP:0008587Mild neurosensory hearing impairment1STRC CL E G H161497603720Deafness, autosomal recessive 16603720C1863561OMIM130416035606440
HP:0000407HP:0008504Moderate sensorineural hearing impairment1STRC CL E G H161497603720Deafness, autosomal recessive 16603720C1863561OMIM130416035606440
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1STRC CL E G H161497603720Deafness, autosomal recessive 16603720C1863561OMIM130416035606440
HP:0000407HP:0011476Profound sensorineural hearing impairment1STRC CL E G H161497603720Deafness, autosomal recessive 16603720C1863561OMIM130416035606440
HP:0000407HP:0000408Progressive sensorineural hearing impairment1STRC CL E G H161497603720Deafness, autosomal recessive 16603720C1863561OMIM130416035606440
HP:0000407HP:0008625Severe sensorineural hearing impairment1STRC CL E G H161497603720Deafness, autosomal recessive 16603720C1863561OMIM130416035606440
HP:0000407HP:0000410Mixed hearing impairment1SUCLA2 CL E G H88031933ORPHA141311448603921
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SUCLA2 CL E G H88031933ORPHA141311448603921
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SUCLA2 CL E G H88031933ORPHA141311448603921
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SUCLA2 CL E G H88031933ORPHA141311448603921
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SUCLA2 CL E G H88031933ORPHA141311448603921
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SUCLA2 CL E G H88031933ORPHA141311448603921
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SUCLA2 CL E G H88031933ORPHA141311448603921
HP:0000407HP:0008587Mild neurosensory hearing impairment1SUCLA2 CL E G H88031933ORPHA141311448603921
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SUCLA2 CL E G H88031933ORPHA141311448603921
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SUCLA2 CL E G H88031933ORPHA141311448603921
HP:0000407HP:0011476Profound sensorineural hearing impairment1SUCLA2 CL E G H88031933ORPHA141311448603921
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SUCLA2 CL E G H88031933ORPHA141311448603921
HP:0000407HP:0008625Severe sensorineural hearing impairment1SUCLA2 CL E G H88031933ORPHA141311448603921
HP:0000407HP:0000410Mixed hearing impairment1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0000407HP:0008587Mild neurosensory hearing impairment1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0000407HP:0011476Profound sensorineural hearing impairment1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0000407HP:0008625Severe sensorineural hearing impairment1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0000407HP:0000410Mixed hearing impairment1SUMF1 CL E G H285362585ORPHA174620376607939
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SUMF1 CL E G H285362585ORPHA174620376607939
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SUMF1 CL E G H285362585ORPHA174620376607939
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SUMF1 CL E G H285362585ORPHA174620376607939
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SUMF1 CL E G H285362585ORPHA174620376607939
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SUMF1 CL E G H285362585ORPHA174620376607939
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SUMF1 CL E G H285362585ORPHA174620376607939
HP:0000407HP:0008587Mild neurosensory hearing impairment1SUMF1 CL E G H285362585ORPHA174620376607939
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SUMF1 CL E G H285362585ORPHA174620376607939
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SUMF1 CL E G H285362585ORPHA174620376607939
HP:0000407HP:0011476Profound sensorineural hearing impairment1SUMF1 CL E G H285362585ORPHA174620376607939
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SUMF1 CL E G H285362585ORPHA174620376607939
HP:0000407HP:0008625Severe sensorineural hearing impairment1SUMF1 CL E G H285362585ORPHA174620376607939
HP:0000407HP:0000410Mixed hearing impairment1SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0000407HP:0008587Mild neurosensory hearing impairment1SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0000407HP:0011476Profound sensorineural hearing impairment1SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0000407HP:0008625Severe sensorineural hearing impairment1SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0000407HP:0000410Mixed hearing impairment1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0000407HP:0008587Mild neurosensory hearing impairment1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0000407HP:0011476Profound sensorineural hearing impairment1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0000407HP:0008625Severe sensorineural hearing impairment1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0000407HP:0000410Mixed hearing impairment1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0000407HP:0008587Mild neurosensory hearing impairment1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0000407HP:0011476Profound sensorineural hearing impairment1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0000407HP:0008625Severe sensorineural hearing impairment1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0000407HP:0000410Mixed hearing impairment1TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM189329203613577
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM189329203613577
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM189329203613577
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM189329203613577
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM189329203613577
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM189329203613577
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM189329203613577
HP:0000407HP:0008587Mild neurosensory hearing impairment1TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM189329203613577
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM189329203613577
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM189329203613577
HP:0000407HP:0011476Profound sensorineural hearing impairment1TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM189329203613577
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM189329203613577
HP:0000407HP:0008625Severe sensorineural hearing impairment1TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM189329203613577
HP:0000407HP:0000410Mixed hearing impairment1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0000407HP:0008587Mild neurosensory hearing impairment1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0000407HP:0011476Profound sensorineural hearing impairment1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0000407HP:0008625Severe sensorineural hearing impairment1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0000407HP:0000410Mixed hearing impairment1TBX22 CL E G H50945921Bone dysplasia corpus callosum agenesisORPHA122811600300307
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TBX22 CL E G H50945921Bone dysplasia corpus callosum agenesisORPHA122811600300307
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TBX22 CL E G H50945921Bone dysplasia corpus callosum agenesisORPHA122811600300307
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TBX22 CL E G H50945921Bone dysplasia corpus callosum agenesisORPHA122811600300307
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TBX22 CL E G H50945921Bone dysplasia corpus callosum agenesisORPHA122811600300307
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TBX22 CL E G H50945921Bone dysplasia corpus callosum agenesisORPHA122811600300307
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TBX22 CL E G H50945921Bone dysplasia corpus callosum agenesisORPHA122811600300307
HP:0000407HP:0008587Mild neurosensory hearing impairment1TBX22 CL E G H50945921Bone dysplasia corpus callosum agenesisORPHA122811600300307
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TBX22 CL E G H50945921Bone dysplasia corpus callosum agenesisORPHA122811600300307
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TBX22 CL E G H50945921Bone dysplasia corpus callosum agenesisORPHA122811600300307
HP:0000407HP:0011476Profound sensorineural hearing impairment1TBX22 CL E G H50945921Bone dysplasia corpus callosum agenesisORPHA122811600300307
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TBX22 CL E G H50945921Bone dysplasia corpus callosum agenesisORPHA122811600300307
HP:0000407HP:0008625Severe sensorineural hearing impairment1TBX22 CL E G H50945921Bone dysplasia corpus callosum agenesisORPHA122811600300307
HP:0000407HP:0000410Mixed hearing impairment1TECTA CL E G H7007601543Deafness, autosomal dominant 12601543C1832187OMIM192911720602574
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TECTA CL E G H7007601543Deafness, autosomal dominant 12601543C1832187OMIM192911720602574
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TECTA CL E G H7007601543Deafness, autosomal dominant 12601543C1832187OMIM192911720602574
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TECTA CL E G H7007601543Deafness, autosomal dominant 12601543C1832187OMIM192911720602574
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TECTA CL E G H7007601543Deafness, autosomal dominant 12601543C1832187OMIM192911720602574
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TECTA CL E G H7007601543Deafness, autosomal dominant 12601543C1832187OMIM192911720602574
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TECTA CL E G H7007601543Deafness, autosomal dominant 12601543C1832187OMIM192911720602574
HP:0000407HP:0008587Mild neurosensory hearing impairment1TECTA CL E G H7007601543Deafness, autosomal dominant 12601543C1832187OMIM192911720602574
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TECTA CL E G H7007601543Deafness, autosomal dominant 12601543C1832187OMIM192911720602574
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TECTA CL E G H7007601543Deafness, autosomal dominant 12601543C1832187OMIM192911720602574
HP:0000407HP:0011476Profound sensorineural hearing impairment1TECTA CL E G H7007601543Deafness, autosomal dominant 12601543C1832187OMIM192911720602574
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TECTA CL E G H7007601543Deafness, autosomal dominant 12601543C1832187OMIM192911720602574
HP:0000407HP:0008625Severe sensorineural hearing impairment1TECTA CL E G H7007601543Deafness, autosomal dominant 12601543C1832187OMIM192911720602574
HP:0000407HP:0000410Mixed hearing impairment1TECTA CL E G H7007603629Deafness, autosomal recessive 21603629C1863655OMIM192911720602574
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TECTA CL E G H7007603629Deafness, autosomal recessive 21603629C1863655OMIM192911720602574
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TECTA CL E G H7007603629Deafness, autosomal recessive 21603629C1863655OMIM192911720602574
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TECTA CL E G H7007603629Deafness, autosomal recessive 21603629C1863655OMIM192911720602574
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TECTA CL E G H7007603629Deafness, autosomal recessive 21603629C1863655OMIM192911720602574
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TECTA CL E G H7007603629Deafness, autosomal recessive 21603629C1863655OMIM192911720602574
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TECTA CL E G H7007603629Deafness, autosomal recessive 21603629C1863655OMIM192911720602574
HP:0000407HP:0008587Mild neurosensory hearing impairment1TECTA CL E G H7007603629Deafness, autosomal recessive 21603629C1863655OMIM192911720602574
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TECTA CL E G H7007603629Deafness, autosomal recessive 21603629C1863655OMIM192911720602574
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TECTA CL E G H7007603629Deafness, autosomal recessive 21603629C1863655OMIM192911720602574
HP:0000407HP:0011476Profound sensorineural hearing impairment1TECTA CL E G H7007603629Deafness, autosomal recessive 21603629C1863655OMIM192911720602574
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TECTA CL E G H7007603629Deafness, autosomal recessive 21603629C1863655OMIM192911720602574
HP:0000407HP:0008625Severe sensorineural hearing impairment1TECTA CL E G H7007603629Deafness, autosomal recessive 21603629C1863655OMIM192911720602574
HP:0000407HP:0000410Mixed hearing impairment1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM121111742107580
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM121111742107580
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM121111742107580
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM121111742107580
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM121111742107580
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM121111742107580
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM121111742107580
HP:0000407HP:0008587Mild neurosensory hearing impairment1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM121111742107580
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM121111742107580
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM121111742107580
HP:0000407HP:0011476Profound sensorineural hearing impairment1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM121111742107580
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM121111742107580
HP:0000407HP:0008625Severe sensorineural hearing impairment1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM121111742107580
HP:0000407HP:0000410Mixed hearing impairment1THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000407HP:0008527Congenital sensorineural hearing impairment1THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000407HP:0008587Mild neurosensory hearing impairment1THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000407HP:0008504Moderate sensorineural hearing impairment1THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000407HP:0011476Profound sensorineural hearing impairment1THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000407HP:0000408Progressive sensorineural hearing impairment1THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000407HP:0008625Severe sensorineural hearing impairment1THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000407HP:0000410Mixed hearing impairment1TMC1 CL E G H117531606705Deafness, autosomal dominant 36606705C1847626OMIM146616513606706
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TMC1 CL E G H117531606705Deafness, autosomal dominant 36606705C1847626OMIM146616513606706
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TMC1 CL E G H117531606705Deafness, autosomal dominant 36606705C1847626OMIM146616513606706
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TMC1 CL E G H117531606705Deafness, autosomal dominant 36606705C1847626OMIM146616513606706
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TMC1 CL E G H117531606705Deafness, autosomal dominant 36606705C1847626OMIM146616513606706
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TMC1 CL E G H117531606705Deafness, autosomal dominant 36606705C1847626OMIM146616513606706
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TMC1 CL E G H117531606705Deafness, autosomal dominant 36606705C1847626OMIM146616513606706
HP:0000407HP:0008587Mild neurosensory hearing impairment1TMC1 CL E G H117531606705Deafness, autosomal dominant 36606705C1847626OMIM146616513606706
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TMC1 CL E G H117531606705Deafness, autosomal dominant 36606705C1847626OMIM146616513606706
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TMC1 CL E G H117531606705Deafness, autosomal dominant 36606705C1847626OMIM146616513606706
HP:0000407HP:0011476Profound sensorineural hearing impairment1TMC1 CL E G H117531606705Deafness, autosomal dominant 36606705C1847626OMIM146616513606706
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TMC1 CL E G H117531606705Deafness, autosomal dominant 36606705C1847626OMIM146616513606706
HP:0000407HP:0008625Severe sensorineural hearing impairment1TMC1 CL E G H117531606705Deafness, autosomal dominant 36606705C1847626OMIM146616513606706
HP:0000407HP:0000410Mixed hearing impairment1TMC1 CL E G H117531600974Deafness, autosomal recessive 7600974C1832978OMIM146616513606706
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TMC1 CL E G H117531600974Deafness, autosomal recessive 7600974C1832978OMIM146616513606706
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TMC1 CL E G H117531600974Deafness, autosomal recessive 7600974C1832978OMIM146616513606706
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TMC1 CL E G H117531600974Deafness, autosomal recessive 7600974C1832978OMIM146616513606706
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TMC1 CL E G H117531600974Deafness, autosomal recessive 7600974C1832978OMIM146616513606706
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TMC1 CL E G H117531600974Deafness, autosomal recessive 7600974C1832978OMIM146616513606706
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TMC1 CL E G H117531600974Deafness, autosomal recessive 7600974C1832978OMIM146616513606706
HP:0000407HP:0008587Mild neurosensory hearing impairment1TMC1 CL E G H117531600974Deafness, autosomal recessive 7600974C1832978OMIM146616513606706
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TMC1 CL E G H117531600974Deafness, autosomal recessive 7600974C1832978OMIM146616513606706
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TMC1 CL E G H117531600974Deafness, autosomal recessive 7600974C1832978OMIM146616513606706
HP:0000407HP:0011476Profound sensorineural hearing impairment1TMC1 CL E G H117531600974Deafness, autosomal recessive 7600974C1832978OMIM146616513606706
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TMC1 CL E G H117531600974Deafness, autosomal recessive 7600974C1832978OMIM146616513606706
HP:0000407HP:0008625Severe sensorineural hearing impairment1TMC1 CL E G H117531600974Deafness, autosomal recessive 7600974C1832978OMIM146616513606706
HP:0000407HP:0000410Mixed hearing impairment1TMPRSS3 CL E G H64699601072Deafness, autosomal recessive 8601072C1832827OMIM142511877605511
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TMPRSS3 CL E G H64699601072Deafness, autosomal recessive 8601072C1832827OMIM142511877605511
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TMPRSS3 CL E G H64699601072Deafness, autosomal recessive 8601072C1832827OMIM142511877605511
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TMPRSS3 CL E G H64699601072Deafness, autosomal recessive 8601072C1832827OMIM142511877605511
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TMPRSS3 CL E G H64699601072Deafness, autosomal recessive 8601072C1832827OMIM142511877605511
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TMPRSS3 CL E G H64699601072Deafness, autosomal recessive 8601072C1832827OMIM142511877605511
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TMPRSS3 CL E G H64699601072Deafness, autosomal recessive 8601072C1832827OMIM142511877605511
HP:0000407HP:0008587Mild neurosensory hearing impairment1TMPRSS3 CL E G H64699601072Deafness, autosomal recessive 8601072C1832827OMIM142511877605511
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TMPRSS3 CL E G H64699601072Deafness, autosomal recessive 8601072C1832827OMIM142511877605511
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TMPRSS3 CL E G H64699601072Deafness, autosomal recessive 8601072C1832827OMIM142511877605511
HP:0000407HP:0011476Profound sensorineural hearing impairment1TMPRSS3 CL E G H64699601072Deafness, autosomal recessive 8601072C1832827OMIM142511877605511
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TMPRSS3 CL E G H64699601072Deafness, autosomal recessive 8601072C1832827OMIM142511877605511
HP:0000407HP:0008625Severe sensorineural hearing impairment1TMPRSS3 CL E G H64699601072Deafness, autosomal recessive 8601072C1832827OMIM142511877605511
HP:0000407HP:0000410Mixed hearing impairment1TNFRSF11B CL E G H4982239000Hyperphosphatasemia with bone disease239000C0268414OMIM120811909602643
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TNFRSF11B CL E G H4982239000Hyperphosphatasemia with bone disease239000C0268414OMIM120811909602643
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TNFRSF11B CL E G H4982239000Hyperphosphatasemia with bone disease239000C0268414OMIM120811909602643
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TNFRSF11B CL E G H4982239000Hyperphosphatasemia with bone disease239000C0268414OMIM120811909602643
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TNFRSF11B CL E G H4982239000Hyperphosphatasemia with bone disease239000C0268414OMIM120811909602643
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TNFRSF11B CL E G H4982239000Hyperphosphatasemia with bone disease239000C0268414OMIM120811909602643
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TNFRSF11B CL E G H4982239000Hyperphosphatasemia with bone disease239000C0268414OMIM120811909602643
HP:0000407HP:0008587Mild neurosensory hearing impairment1TNFRSF11B CL E G H4982239000Hyperphosphatasemia with bone disease239000C0268414OMIM120811909602643
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TNFRSF11B CL E G H4982239000Hyperphosphatasemia with bone disease239000C0268414OMIM120811909602643
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TNFRSF11B CL E G H4982239000Hyperphosphatasemia with bone disease239000C0268414OMIM120811909602643
HP:0000407HP:0011476Profound sensorineural hearing impairment1TNFRSF11B CL E G H4982239000Hyperphosphatasemia with bone disease239000C0268414OMIM120811909602643
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TNFRSF11B CL E G H4982239000Hyperphosphatasemia with bone disease239000C0268414OMIM120811909602643
HP:0000407HP:0008625Severe sensorineural hearing impairment1TNFRSF11B CL E G H4982239000Hyperphosphatasemia with bone disease239000C0268414OMIM120811909602643
HP:0000407HP:0000410Mixed hearing impairment1TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158321653609507
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158321653609507
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158321653609507
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158321653609507
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158321653609507
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158321653609507
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158321653609507
HP:0000407HP:0008587Mild neurosensory hearing impairment1TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158321653609507
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158321653609507
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158321653609507
HP:0000407HP:0011476Profound sensorineural hearing impairment1TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158321653609507
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158321653609507
HP:0000407HP:0008625Severe sensorineural hearing impairment1TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158321653609507
HP:0000407HP:0000410Mixed hearing impairment1TPRN CL E G H286262613307Deafness, autosomal recessive 79613307C2750082OMIM132626894613354
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TPRN CL E G H286262613307Deafness, autosomal recessive 79613307C2750082OMIM132626894613354
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TPRN CL E G H286262613307Deafness, autosomal recessive 79613307C2750082OMIM132626894613354
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TPRN CL E G H286262613307Deafness, autosomal recessive 79613307C2750082OMIM132626894613354
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TPRN CL E G H286262613307Deafness, autosomal recessive 79613307C2750082OMIM132626894613354
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TPRN CL E G H286262613307Deafness, autosomal recessive 79613307C2750082OMIM132626894613354
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TPRN CL E G H286262613307Deafness, autosomal recessive 79613307C2750082OMIM132626894613354
HP:0000407HP:0008587Mild neurosensory hearing impairment1TPRN CL E G H286262613307Deafness, autosomal recessive 79613307C2750082OMIM132626894613354
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TPRN CL E G H286262613307Deafness, autosomal recessive 79613307C2750082OMIM132626894613354
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TPRN CL E G H286262613307Deafness, autosomal recessive 79613307C2750082OMIM132626894613354
HP:0000407HP:0011476Profound sensorineural hearing impairment1TPRN CL E G H286262613307Deafness, autosomal recessive 79613307C2750082OMIM132626894613354
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TPRN CL E G H286262613307Deafness, autosomal recessive 79613307C2750082OMIM132626894613354
HP:0000407HP:0008625Severe sensorineural hearing impairment1TPRN CL E G H286262613307Deafness, autosomal recessive 79613307C2750082OMIM132626894613354
HP:0000407HP:0000410Mixed hearing impairment1TRPV3 CL E G H162514659AmyoplasiaORPHA139718084607066
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TRPV3 CL E G H162514659AmyoplasiaORPHA139718084607066
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TRPV3 CL E G H162514659AmyoplasiaORPHA139718084607066
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TRPV3 CL E G H162514659AmyoplasiaORPHA139718084607066
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TRPV3 CL E G H162514659AmyoplasiaORPHA139718084607066
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TRPV3 CL E G H162514659AmyoplasiaORPHA139718084607066
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TRPV3 CL E G H162514659AmyoplasiaORPHA139718084607066
HP:0000407HP:0008587Mild neurosensory hearing impairment1TRPV3 CL E G H162514659AmyoplasiaORPHA139718084607066
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TRPV3 CL E G H162514659AmyoplasiaORPHA139718084607066
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TRPV3 CL E G H162514659AmyoplasiaORPHA139718084607066
HP:0000407HP:0011476Profound sensorineural hearing impairment1TRPV3 CL E G H162514659AmyoplasiaORPHA139718084607066
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TRPV3 CL E G H162514659AmyoplasiaORPHA139718084607066
HP:0000407HP:0008625Severe sensorineural hearing impairment1TRPV3 CL E G H162514659AmyoplasiaORPHA139718084607066
HP:0000407HP:0000410Mixed hearing impairment1TRPV4 CL E G H59341606071Charcot-Marie-Tooth disease type 2C606071C2079540OMIM1101818083605427
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TRPV4 CL E G H59341606071Charcot-Marie-Tooth disease type 2C606071C2079540OMIM1101818083605427
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TRPV4 CL E G H59341606071Charcot-Marie-Tooth disease type 2C606071C2079540OMIM1101818083605427
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TRPV4 CL E G H59341606071Charcot-Marie-Tooth disease type 2C606071C2079540OMIM1101818083605427
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TRPV4 CL E G H59341606071Charcot-Marie-Tooth disease type 2C606071C2079540OMIM1101818083605427
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TRPV4 CL E G H59341606071Charcot-Marie-Tooth disease type 2C606071C2079540OMIM1101818083605427
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TRPV4 CL E G H59341606071Charcot-Marie-Tooth disease type 2C606071C2079540OMIM1101818083605427
HP:0000407HP:0008587Mild neurosensory hearing impairment1TRPV4 CL E G H59341606071Charcot-Marie-Tooth disease type 2C606071C2079540OMIM1101818083605427
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TRPV4 CL E G H59341606071Charcot-Marie-Tooth disease type 2C606071C2079540OMIM1101818083605427
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TRPV4 CL E G H59341606071Charcot-Marie-Tooth disease type 2C606071C2079540OMIM1101818083605427
HP:0000407HP:0011476Profound sensorineural hearing impairment1TRPV4 CL E G H59341606071Charcot-Marie-Tooth disease type 2C606071C2079540OMIM1101818083605427
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TRPV4 CL E G H59341606071Charcot-Marie-Tooth disease type 2C606071C2079540OMIM1101818083605427
HP:0000407HP:0008625Severe sensorineural hearing impairment1TRPV4 CL E G H59341606071Charcot-Marie-Tooth disease type 2C606071C2079540OMIM1101818083605427
HP:0000407HP:0000410Mixed hearing impairment1TSPEAR CL E G H54084614861Deafness, autosomal recessive 98614861C3553932OMIM17661268612920
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TSPEAR CL E G H54084614861Deafness, autosomal recessive 98614861C3553932OMIM17661268612920
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TSPEAR CL E G H54084614861Deafness, autosomal recessive 98614861C3553932OMIM17661268612920
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TSPEAR CL E G H54084614861Deafness, autosomal recessive 98614861C3553932OMIM17661268612920
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TSPEAR CL E G H54084614861Deafness, autosomal recessive 98614861C3553932OMIM17661268612920
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TSPEAR CL E G H54084614861Deafness, autosomal recessive 98614861C3553932OMIM17661268612920
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TSPEAR CL E G H54084614861Deafness, autosomal recessive 98614861C3553932OMIM17661268612920
HP:0000407HP:0008587Mild neurosensory hearing impairment1TSPEAR CL E G H54084614861Deafness, autosomal recessive 98614861C3553932OMIM17661268612920
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TSPEAR CL E G H54084614861Deafness, autosomal recessive 98614861C3553932OMIM17661268612920
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TSPEAR CL E G H54084614861Deafness, autosomal recessive 98614861C3553932OMIM17661268612920
HP:0000407HP:0011476Profound sensorineural hearing impairment1TSPEAR CL E G H54084614861Deafness, autosomal recessive 98614861C3553932OMIM17661268612920
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TSPEAR CL E G H54084614861Deafness, autosomal recessive 98614861C3553932OMIM17661268612920
HP:0000407HP:0008625Severe sensorineural hearing impairment1TSPEAR CL E G H54084614861Deafness, autosomal recessive 98614861C3553932OMIM17661268612920
HP:0000407HP:0000410Mixed hearing impairment1TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA142720087608132
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA142720087608132
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA142720087608132
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA142720087608132
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA142720087608132
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA142720087608132
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA142720087608132
HP:0000407HP:0008587Mild neurosensory hearing impairment1TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA142720087608132
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA142720087608132
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA142720087608132
HP:0000407HP:0011476Profound sensorineural hearing impairment1TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA142720087608132
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA142720087608132
HP:0000407HP:0008625Severe sensorineural hearing impairment1TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA142720087608132
HP:0000407HP:0000410Mixed hearing impairment1TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147712406601197
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147712406601197
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147712406601197
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147712406601197
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147712406601197
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147712406601197
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147712406601197
HP:0000407HP:0008587Mild neurosensory hearing impairment1TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147712406601197
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147712406601197
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147712406601197
HP:0000407HP:0011476Profound sensorineural hearing impairment1TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147712406601197
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147712406601197
HP:0000407HP:0008625Severe sensorineural hearing impairment1TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147712406601197
HP:0000407HP:0000410Mixed hearing impairment1TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158712423602280
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158712423602280
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158712423602280
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158712423602280
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158712423602280
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158712423602280
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158712423602280
HP:0000407HP:0008587Mild neurosensory hearing impairment1TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158712423602280
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158712423602280
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158712423602280
HP:0000407HP:0011476Profound sensorineural hearing impairment1TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158712423602280
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158712423602280
HP:0000407HP:0008625Severe sensorineural hearing impairment1TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158712423602280
HP:0000407HP:0000410Mixed hearing impairment1TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM14501160606075
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM14501160606075
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM14501160606075
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM14501160606075
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM14501160606075
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM14501160606075
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM14501160606075
HP:0000407HP:0008587Mild neurosensory hearing impairment1TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM14501160606075
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM14501160606075
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM14501160606075
HP:0000407HP:0011476Profound sensorineural hearing impairment1TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM14501160606075
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM14501160606075
HP:0000407HP:0008625Severe sensorineural hearing impairment1TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM14501160606075
HP:0000407HP:0000410Mixed hearing impairment1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0000407HP:0008587Mild neurosensory hearing impairment1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0000407HP:0011476Profound sensorineural hearing impairment1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0000407HP:0008625Severe sensorineural hearing impairment1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0000407HP:0000410Mixed hearing impairment1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0000407HP:0008587Mild neurosensory hearing impairment1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0000407HP:0011476Profound sensorineural hearing impairment1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0000407HP:0008625Severe sensorineural hearing impairment1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0000407HP:0000410Mixed hearing impairment1TYR CL E G H7299103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM151712442606933
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TYR CL E G H7299103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM151712442606933
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TYR CL E G H7299103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM151712442606933
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TYR CL E G H7299103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM151712442606933
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TYR CL E G H7299103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM151712442606933
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TYR CL E G H7299103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM151712442606933
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TYR CL E G H7299103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM151712442606933
HP:0000407HP:0008587Mild neurosensory hearing impairment1TYR CL E G H7299103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM151712442606933
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TYR CL E G H7299103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM151712442606933
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TYR CL E G H7299103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM151712442606933
HP:0000407HP:0011476Profound sensorineural hearing impairment1TYR CL E G H7299103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM151712442606933
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TYR CL E G H7299103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM151712442606933
HP:0000407HP:0008625Severe sensorineural hearing impairment1TYR CL E G H7299103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM151712442606933
HP:0000407HP:0000410Mixed hearing impairment1UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA135016808605981
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA135016808605981
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA135016808605981
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA135016808605981
HP:0000407HP:0008527Congenital sensorineural hearing impairment1UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA135016808605981
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA135016808605981
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA135016808605981
HP:0000407HP:0008587Mild neurosensory hearing impairment1UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA135016808605981
HP:0000407HP:0008504Moderate sensorineural hearing impairment1UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA135016808605981
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA135016808605981
HP:0000407HP:0011476Profound sensorineural hearing impairment1UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA135016808605981
HP:0000407HP:0000408Progressive sensorineural hearing impairment1UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA135016808605981
HP:0000407HP:0008625Severe sensorineural hearing impairment1UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA135016808605981
HP:0000407HP:0000410Mixed hearing impairment1UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0000407HP:0008527Congenital sensorineural hearing impairment1UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0000407HP:0008587Mild neurosensory hearing impairment1UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0000407HP:0008504Moderate sensorineural hearing impairment1UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0000407HP:0011476Profound sensorineural hearing impairment1UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0000407HP:0000408Progressive sensorineural hearing impairment1UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0000407HP:0008625Severe sensorineural hearing impairment1UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0000407HP:0000410Mixed hearing impairment1USH1C CL E G H10083231169ORPHA1114612597605242
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1USH1C CL E G H10083231169ORPHA1114612597605242
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1USH1C CL E G H10083231169ORPHA1114612597605242
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1USH1C CL E G H10083231169ORPHA1114612597605242
HP:0000407HP:0008527Congenital sensorineural hearing impairment1USH1C CL E G H10083231169ORPHA1114612597605242
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1USH1C CL E G H10083231169ORPHA1114612597605242
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1USH1C CL E G H10083231169ORPHA1114612597605242
HP:0000407HP:0008587Mild neurosensory hearing impairment1USH1C CL E G H10083231169ORPHA1114612597605242
HP:0000407HP:0008504Moderate sensorineural hearing impairment1USH1C CL E G H10083231169ORPHA1114612597605242
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1USH1C CL E G H10083231169ORPHA1114612597605242
HP:0000407HP:0011476Profound sensorineural hearing impairment1USH1C CL E G H10083231169ORPHA1114612597605242
HP:0000407HP:0000408Progressive sensorineural hearing impairment1USH1C CL E G H10083231169ORPHA1114612597605242
HP:0000407HP:0008625Severe sensorineural hearing impairment1USH1C CL E G H10083231169ORPHA1114612597605242
HP:0000407HP:0000410Mixed hearing impairment1USH1C CL E G H10083602092Deafness, autosomal recessive 18602092C1865870OMIM1114612597605242
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1USH1C CL E G H10083602092Deafness, autosomal recessive 18602092C1865870OMIM1114612597605242
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1USH1C CL E G H10083602092Deafness, autosomal recessive 18602092C1865870OMIM1114612597605242
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1USH1C CL E G H10083602092Deafness, autosomal recessive 18602092C1865870OMIM1114612597605242
HP:0000407HP:0008527Congenital sensorineural hearing impairment1USH1C CL E G H10083602092Deafness, autosomal recessive 18602092C1865870OMIM1114612597605242
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1USH1C CL E G H10083602092Deafness, autosomal recessive 18602092C1865870OMIM1114612597605242
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1USH1C CL E G H10083602092Deafness, autosomal recessive 18602092C1865870OMIM1114612597605242
HP:0000407HP:0008587Mild neurosensory hearing impairment1USH1C CL E G H10083602092Deafness, autosomal recessive 18602092C1865870OMIM1114612597605242
HP:0000407HP:0008504Moderate sensorineural hearing impairment1USH1C CL E G H10083602092Deafness, autosomal recessive 18602092C1865870OMIM1114612597605242
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1USH1C CL E G H10083602092Deafness, autosomal recessive 18602092C1865870OMIM1114612597605242
HP:0000407HP:0011476Profound sensorineural hearing impairment1USH1C CL E G H10083602092Deafness, autosomal recessive 18602092C1865870OMIM1114612597605242
HP:0000407HP:0000408Progressive sensorineural hearing impairment1USH1C CL E G H10083602092Deafness, autosomal recessive 18602092C1865870OMIM1114612597605242
HP:0000407HP:0008625Severe sensorineural hearing impairment1USH1C CL E G H10083602092Deafness, autosomal recessive 18602092C1865870OMIM1114612597605242
HP:0000407HP:0000410Mixed hearing impairment1USH1C CL E G H10083276900Usher syndrome, type 1276900C1568247OMIM1114612597605242
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1USH1C CL E G H10083276900Usher syndrome, type 1276900C1568247OMIM1114612597605242
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1USH1C CL E G H10083276900Usher syndrome, type 1276900C1568247OMIM1114612597605242
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1USH1C CL E G H10083276900Usher syndrome, type 1276900C1568247OMIM1114612597605242
HP:0000407HP:0008527Congenital sensorineural hearing impairment1USH1C CL E G H10083276900Usher syndrome, type 1276900C1568247OMIM1114612597605242
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1USH1C CL E G H10083276900Usher syndrome, type 1276900C1568247OMIM1114612597605242
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1USH1C CL E G H10083276900Usher syndrome, type 1276900C1568247OMIM1114612597605242
HP:0000407HP:0008587Mild neurosensory hearing impairment1USH1C CL E G H10083276900Usher syndrome, type 1276900C1568247OMIM1114612597605242
HP:0000407HP:0008504Moderate sensorineural hearing impairment1USH1C CL E G H10083276900Usher syndrome, type 1276900C1568247OMIM1114612597605242
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1USH1C CL E G H10083276900Usher syndrome, type 1276900C1568247OMIM1114612597605242
HP:0000407HP:0011476Profound sensorineural hearing impairment1USH1C CL E G H10083276900Usher syndrome, type 1276900C1568247OMIM1114612597605242
HP:0000407HP:0000408Progressive sensorineural hearing impairment1USH1C CL E G H10083276900Usher syndrome, type 1276900C1568247OMIM1114612597605242
HP:0000407HP:0008625Severe sensorineural hearing impairment1USH1C CL E G H10083276900Usher syndrome, type 1276900C1568247OMIM1114612597605242
HP:0000407HP:0000410Mixed hearing impairment1USH1G CL E G H124590231169ORPHA142016356607696
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1USH1G CL E G H124590231169ORPHA142016356607696
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1USH1G CL E G H124590231169ORPHA142016356607696
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1USH1G CL E G H124590231169ORPHA142016356607696
HP:0000407HP:0008527Congenital sensorineural hearing impairment1USH1G CL E G H124590231169ORPHA142016356607696
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1USH1G CL E G H124590231169ORPHA142016356607696
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1USH1G CL E G H124590231169ORPHA142016356607696
HP:0000407HP:0008587Mild neurosensory hearing impairment1USH1G CL E G H124590231169ORPHA142016356607696
HP:0000407HP:0008504Moderate sensorineural hearing impairment1USH1G CL E G H124590231169ORPHA142016356607696
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1USH1G CL E G H124590231169ORPHA142016356607696
HP:0000407HP:0011476Profound sensorineural hearing impairment1USH1G CL E G H124590231169ORPHA142016356607696
HP:0000407HP:0000408Progressive sensorineural hearing impairment1USH1G CL E G H124590231169ORPHA142016356607696
HP:0000407HP:0008625Severe sensorineural hearing impairment1USH1G CL E G H124590231169ORPHA142016356607696
HP:0000407HP:0000410Mixed hearing impairment1USH1G CL E G H124590606943Usher syndrome, type 1G606943C1847089OMIM142016356607696
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1USH1G CL E G H124590606943Usher syndrome, type 1G606943C1847089OMIM142016356607696
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1USH1G CL E G H124590606943Usher syndrome, type 1G606943C1847089OMIM142016356607696
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1USH1G CL E G H124590606943Usher syndrome, type 1G606943C1847089OMIM142016356607696
HP:0000407HP:0008527Congenital sensorineural hearing impairment1USH1G CL E G H124590606943Usher syndrome, type 1G606943C1847089OMIM142016356607696
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1USH1G CL E G H124590606943Usher syndrome, type 1G606943C1847089OMIM142016356607696
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1USH1G CL E G H124590606943Usher syndrome, type 1G606943C1847089OMIM142016356607696
HP:0000407HP:0008587Mild neurosensory hearing impairment1USH1G CL E G H124590606943Usher syndrome, type 1G606943C1847089OMIM142016356607696
HP:0000407HP:0008504Moderate sensorineural hearing impairment1USH1G CL E G H124590606943Usher syndrome, type 1G606943C1847089OMIM142016356607696
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1USH1G CL E G H124590606943Usher syndrome, type 1G606943C1847089OMIM142016356607696
HP:0000407HP:0011476Profound sensorineural hearing impairment1USH1G CL E G H124590606943Usher syndrome, type 1G606943C1847089OMIM142016356607696
HP:0000407HP:0000408Progressive sensorineural hearing impairment1USH1G CL E G H124590606943Usher syndrome, type 1G606943C1847089OMIM142016356607696
HP:0000407HP:0008625Severe sensorineural hearing impairment1USH1G CL E G H124590606943Usher syndrome, type 1G606943C1847089OMIM142016356607696
HP:0000407HP:0000410Mixed hearing impairment1USH2A CL E G H7399231178ORPHA1704012601608400
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1USH2A CL E G H7399231178ORPHA1704012601608400
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1USH2A CL E G H7399231178ORPHA1704012601608400
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1USH2A CL E G H7399231178ORPHA1704012601608400
HP:0000407HP:0008527Congenital sensorineural hearing impairment1USH2A CL E G H7399231178ORPHA1704012601608400
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1USH2A CL E G H7399231178ORPHA1704012601608400
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1USH2A CL E G H7399231178ORPHA1704012601608400
HP:0000407HP:0008587Mild neurosensory hearing impairment1USH2A CL E G H7399231178ORPHA1704012601608400
HP:0000407HP:0008504Moderate sensorineural hearing impairment1USH2A CL E G H7399231178ORPHA1704012601608400
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1USH2A CL E G H7399231178ORPHA1704012601608400
HP:0000407HP:0011476Profound sensorineural hearing impairment1USH2A CL E G H7399231178ORPHA1704012601608400
HP:0000407HP:0000408Progressive sensorineural hearing impairment1USH2A CL E G H7399231178ORPHA1704012601608400
HP:0000407HP:0008625Severe sensorineural hearing impairment1USH2A CL E G H7399231178ORPHA1704012601608400
HP:0000407HP:0000410Mixed hearing impairment1USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1704012601608400
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1704012601608400
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1704012601608400
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1704012601608400
HP:0000407HP:0008527Congenital sensorineural hearing impairment1USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1704012601608400
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1704012601608400
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1704012601608400
HP:0000407HP:0008587Mild neurosensory hearing impairment1USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1704012601608400
HP:0000407HP:0008504Moderate sensorineural hearing impairment1USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1704012601608400
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1704012601608400
HP:0000407HP:0011476Profound sensorineural hearing impairment1USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1704012601608400
HP:0000407HP:0000408Progressive sensorineural hearing impairment1USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1704012601608400
HP:0000407HP:0008625Severe sensorineural hearing impairment1USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1704012601608400
HP:0000407HP:0000410Mixed hearing impairment1VHL CL E G H7428892Billet Bear syndromeORPHA1180512687608537
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1VHL CL E G H7428892Billet Bear syndromeORPHA1180512687608537
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1VHL CL E G H7428892Billet Bear syndromeORPHA1180512687608537
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1VHL CL E G H7428892Billet Bear syndromeORPHA1180512687608537
HP:0000407HP:0008527Congenital sensorineural hearing impairment1VHL CL E G H7428892Billet Bear syndromeORPHA1180512687608537
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1VHL CL E G H7428892Billet Bear syndromeORPHA1180512687608537
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1VHL CL E G H7428892Billet Bear syndromeORPHA1180512687608537
HP:0000407HP:0008587Mild neurosensory hearing impairment1VHL CL E G H7428892Billet Bear syndromeORPHA1180512687608537
HP:0000407HP:0008504Moderate sensorineural hearing impairment1VHL CL E G H7428892Billet Bear syndromeORPHA1180512687608537
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1VHL CL E G H7428892Billet Bear syndromeORPHA1180512687608537
HP:0000407HP:0011476Profound sensorineural hearing impairment1VHL CL E G H7428892Billet Bear syndromeORPHA1180512687608537
HP:0000407HP:0000408Progressive sensorineural hearing impairment1VHL CL E G H7428892Billet Bear syndromeORPHA1180512687608537
HP:0000407HP:0008625Severe sensorineural hearing impairment1VHL CL E G H7428892Billet Bear syndromeORPHA1180512687608537
HP:0000407HP:0000410Mixed hearing impairment1VHL CL E G H7428193300Von Hippel-Lindau syndrome193300C0019562OMIM1180512687608537
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1VHL CL E G H7428193300Von Hippel-Lindau syndrome193300C0019562OMIM1180512687608537
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1VHL CL E G H7428193300Von Hippel-Lindau syndrome193300C0019562OMIM1180512687608537
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1VHL CL E G H7428193300Von Hippel-Lindau syndrome193300C0019562OMIM1180512687608537
HP:0000407HP:0008527Congenital sensorineural hearing impairment1VHL CL E G H7428193300Von Hippel-Lindau syndrome193300C0019562OMIM1180512687608537
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1VHL CL E G H7428193300Von Hippel-Lindau syndrome193300C0019562OMIM1180512687608537
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1VHL CL E G H7428193300Von Hippel-Lindau syndrome193300C0019562OMIM1180512687608537
HP:0000407HP:0008587Mild neurosensory hearing impairment1VHL CL E G H7428193300Von Hippel-Lindau syndrome193300C0019562OMIM1180512687608537
HP:0000407HP:0008504Moderate sensorineural hearing impairment1VHL CL E G H7428193300Von Hippel-Lindau syndrome193300C0019562OMIM1180512687608537
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1VHL CL E G H7428193300Von Hippel-Lindau syndrome193300C0019562OMIM1180512687608537
HP:0000407HP:0011476Profound sensorineural hearing impairment1VHL CL E G H7428193300Von Hippel-Lindau syndrome193300C0019562OMIM1180512687608537
HP:0000407HP:0000408Progressive sensorineural hearing impairment1VHL CL E G H7428193300Von Hippel-Lindau syndrome193300C0019562OMIM1180512687608537
HP:0000407HP:0008625Severe sensorineural hearing impairment1VHL CL E G H7428193300Von Hippel-Lindau syndrome193300C0019562OMIM1180512687608537
HP:0000407HP:0000410Mixed hearing impairment1VPS11 CL E G H55823466934ORPHA122814583608549
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1VPS11 CL E G H55823466934ORPHA122814583608549
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1VPS11 CL E G H55823466934ORPHA122814583608549
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1VPS11 CL E G H55823466934ORPHA122814583608549
HP:0000407HP:0008527Congenital sensorineural hearing impairment1VPS11 CL E G H55823466934ORPHA122814583608549
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1VPS11 CL E G H55823466934ORPHA122814583608549
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1VPS11 CL E G H55823466934ORPHA122814583608549
HP:0000407HP:0008587Mild neurosensory hearing impairment1VPS11 CL E G H55823466934ORPHA122814583608549
HP:0000407HP:0008504Moderate sensorineural hearing impairment1VPS11 CL E G H55823466934ORPHA122814583608549
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1VPS11 CL E G H55823466934ORPHA122814583608549
HP:0000407HP:0011476Profound sensorineural hearing impairment1VPS11 CL E G H55823466934ORPHA122814583608549
HP:0000407HP:0000408Progressive sensorineural hearing impairment1VPS11 CL E G H55823466934ORPHA122814583608549
HP:0000407HP:0008625Severe sensorineural hearing impairment1VPS11 CL E G H55823466934ORPHA122814583608549
HP:0000407HP:0000410Mixed hearing impairment1WFS1 CL E G H74663463ORPHA1163412762606201
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1WFS1 CL E G H74663463ORPHA1163412762606201
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1WFS1 CL E G H74663463ORPHA1163412762606201
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1WFS1 CL E G H74663463ORPHA1163412762606201
HP:0000407HP:0008527Congenital sensorineural hearing impairment1WFS1 CL E G H74663463ORPHA1163412762606201
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1WFS1 CL E G H74663463ORPHA1163412762606201
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1WFS1 CL E G H74663463ORPHA1163412762606201
HP:0000407HP:0008587Mild neurosensory hearing impairment1WFS1 CL E G H74663463ORPHA1163412762606201
HP:0000407HP:0008504Moderate sensorineural hearing impairment1WFS1 CL E G H74663463ORPHA1163412762606201
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1WFS1 CL E G H74663463ORPHA1163412762606201
HP:0000407HP:0011476Profound sensorineural hearing impairment1WFS1 CL E G H74663463ORPHA1163412762606201
HP:0000407HP:0000408Progressive sensorineural hearing impairment1WFS1 CL E G H74663463ORPHA1163412762606201
HP:0000407HP:0008625Severe sensorineural hearing impairment1WFS1 CL E G H74663463ORPHA1163412762606201
HP:0000407HP:0000410Mixed hearing impairment1WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1163412762606201
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1163412762606201
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1163412762606201
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1163412762606201
HP:0000407HP:0008527Congenital sensorineural hearing impairment1WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1163412762606201
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1163412762606201
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1163412762606201
HP:0000407HP:0008587Mild neurosensory hearing impairment1WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1163412762606201
HP:0000407HP:0008504Moderate sensorineural hearing impairment1WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1163412762606201
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1163412762606201
HP:0000407HP:0011476Profound sensorineural hearing impairment1WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1163412762606201
HP:0000407HP:0000408Progressive sensorineural hearing impairment1WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1163412762606201
HP:0000407HP:0008625Severe sensorineural hearing impairment1WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1163412762606201
HP:0000407HP:0000410Mixed hearing impairment1WHRN CL E G H25861231178ORPHA184816361607928
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1WHRN CL E G H25861231178ORPHA184816361607928
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1WHRN CL E G H25861231178ORPHA184816361607928
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1WHRN CL E G H25861231178ORPHA184816361607928
HP:0000407HP:0008527Congenital sensorineural hearing impairment1WHRN CL E G H25861231178ORPHA184816361607928
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1WHRN CL E G H25861231178ORPHA184816361607928
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1WHRN CL E G H25861231178ORPHA184816361607928
HP:0000407HP:0008587Mild neurosensory hearing impairment1WHRN CL E G H25861231178ORPHA184816361607928
HP:0000407HP:0008504Moderate sensorineural hearing impairment1WHRN CL E G H25861231178ORPHA184816361607928
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1WHRN CL E G H25861231178ORPHA184816361607928
HP:0000407HP:0011476Profound sensorineural hearing impairment1WHRN CL E G H25861231178ORPHA184816361607928
HP:0000407HP:0000408Progressive sensorineural hearing impairment1WHRN CL E G H25861231178ORPHA184816361607928
HP:0000407HP:0008625Severe sensorineural hearing impairment1WHRN CL E G H25861231178ORPHA184816361607928
HP:0000407HP:0000410Mixed hearing impairment1WHRN CL E G H25861607084Deafness, autosomal recessive 31607084C1846839OMIM184816361607928
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1WHRN CL E G H25861607084Deafness, autosomal recessive 31607084C1846839OMIM184816361607928
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1WHRN CL E G H25861607084Deafness, autosomal recessive 31607084C1846839OMIM184816361607928
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1WHRN CL E G H25861607084Deafness, autosomal recessive 31607084C1846839OMIM184816361607928
HP:0000407HP:0008527Congenital sensorineural hearing impairment1WHRN CL E G H25861607084Deafness, autosomal recessive 31607084C1846839OMIM184816361607928
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1WHRN CL E G H25861607084Deafness, autosomal recessive 31607084C1846839OMIM184816361607928
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1WHRN CL E G H25861607084Deafness, autosomal recessive 31607084C1846839OMIM184816361607928
HP:0000407HP:0008587Mild neurosensory hearing impairment1WHRN CL E G H25861607084Deafness, autosomal recessive 31607084C1846839OMIM184816361607928
HP:0000407HP:0008504Moderate sensorineural hearing impairment1WHRN CL E G H25861607084Deafness, autosomal recessive 31607084C1846839OMIM184816361607928
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1WHRN CL E G H25861607084Deafness, autosomal recessive 31607084C1846839OMIM184816361607928
HP:0000407HP:0011476Profound sensorineural hearing impairment1WHRN CL E G H25861607084Deafness, autosomal recessive 31607084C1846839OMIM184816361607928
HP:0000407HP:0000408Progressive sensorineural hearing impairment1WHRN CL E G H25861607084Deafness, autosomal recessive 31607084C1846839OMIM184816361607928
HP:0000407HP:0008625Severe sensorineural hearing impairment1WHRN CL E G H25861607084Deafness, autosomal recessive 31607084C1846839OMIM184816361607928
HP:0000407HP:0000410Mixed hearing impairment1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA132112814611153
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA132112814611153
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA132112814611153
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA132112814611153
HP:0000407HP:0008527Congenital sensorineural hearing impairment1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA132112814611153
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA132112814611153
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA132112814611153
HP:0000407HP:0008587Mild neurosensory hearing impairment1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA132112814611153
HP:0000407HP:0008504Moderate sensorineural hearing impairment1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA132112814611153
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA132112814611153
HP:0000407HP:0011476Profound sensorineural hearing impairment1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA132112814611153
HP:0000407HP:0000408Progressive sensorineural hearing impairment1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA132112814611153
HP:0000407HP:0008625Severe sensorineural hearing impairment1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA132112814611153
HP:0000407HP:0000410Mixed hearing impairment1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0000407HP:0008527Congenital sensorineural hearing impairment1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0000407HP:0008587Mild neurosensory hearing impairment1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0000407HP:0008504Moderate sensorineural hearing impairment1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0000407HP:0011476Profound sensorineural hearing impairment1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0000407HP:0000408Progressive sensorineural hearing impairment1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0000407HP:0008625Severe sensorineural hearing impairment1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0000407HP:0000410Mixed hearing impairment1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA178812816613208
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA178812816613208
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA178812816613208
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA178812816613208
HP:0000407HP:0008527Congenital sensorineural hearing impairment1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA178812816613208
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA178812816613208
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA178812816613208
HP:0000407HP:0008587Mild neurosensory hearing impairment1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA178812816613208
HP:0000407HP:0008504Moderate sensorineural hearing impairment1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA178812816613208
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA178812816613208
HP:0000407HP:0011476Profound sensorineural hearing impairment1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA178812816613208
HP:0000407HP:0000408Progressive sensorineural hearing impairment1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA178812816613208
HP:0000407HP:0008625Severe sensorineural hearing impairment1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA178812816613208
HP:0000407HP:0000410Mixed hearing impairment1XYLT2 CL E G H64132605822Spondyloocular syndrome, autosomal recessive605822C1853925OMIM132715517608125
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1XYLT2 CL E G H64132605822Spondyloocular syndrome, autosomal recessive605822C1853925OMIM132715517608125
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1XYLT2 CL E G H64132605822Spondyloocular syndrome, autosomal recessive605822C1853925OMIM132715517608125
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1XYLT2 CL E G H64132605822Spondyloocular syndrome, autosomal recessive605822C1853925OMIM132715517608125
HP:0000407HP:0008527Congenital sensorineural hearing impairment1XYLT2 CL E G H64132605822Spondyloocular syndrome, autosomal recessive605822C1853925OMIM132715517608125
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1XYLT2 CL E G H64132605822Spondyloocular syndrome, autosomal recessive605822C1853925OMIM132715517608125
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1XYLT2 CL E G H64132605822Spondyloocular syndrome, autosomal recessive605822C1853925OMIM132715517608125
HP:0000407HP:0008587Mild neurosensory hearing impairment1XYLT2 CL E G H64132605822Spondyloocular syndrome, autosomal recessive605822C1853925OMIM132715517608125
HP:0000407HP:0008504Moderate sensorineural hearing impairment1XYLT2 CL E G H64132605822Spondyloocular syndrome, autosomal recessive605822C1853925OMIM132715517608125
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1XYLT2 CL E G H64132605822Spondyloocular syndrome, autosomal recessive605822C1853925OMIM132715517608125
HP:0000407HP:0011476Profound sensorineural hearing impairment1XYLT2 CL E G H64132605822Spondyloocular syndrome, autosomal recessive605822C1853925OMIM132715517608125
HP:0000407HP:0000408Progressive sensorineural hearing impairment1XYLT2 CL E G H64132605822Spondyloocular syndrome, autosomal recessive605822C1853925OMIM132715517608125
HP:0000407HP:0008625Severe sensorineural hearing impairment1XYLT2 CL E G H64132605822Spondyloocular syndrome, autosomal recessive605822C1853925OMIM132715517608125
HP:0000407HP:0000410Mixed hearing impairment1YAP1 CL E G H104131473Congenital articular rigidityORPHA18216262606608
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1YAP1 CL E G H104131473Congenital articular rigidityORPHA18216262606608
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1YAP1 CL E G H104131473Congenital articular rigidityORPHA18216262606608
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1YAP1 CL E G H104131473Congenital articular rigidityORPHA18216262606608
HP:0000407HP:0008527Congenital sensorineural hearing impairment1YAP1 CL E G H104131473Congenital articular rigidityORPHA18216262606608
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1YAP1 CL E G H104131473Congenital articular rigidityORPHA18216262606608
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1YAP1 CL E G H104131473Congenital articular rigidityORPHA18216262606608
HP:0000407HP:0008587Mild neurosensory hearing impairment1YAP1 CL E G H104131473Congenital articular rigidityORPHA18216262606608
HP:0000407HP:0008504Moderate sensorineural hearing impairment1YAP1 CL E G H104131473Congenital articular rigidityORPHA18216262606608
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1YAP1 CL E G H104131473Congenital articular rigidityORPHA18216262606608
HP:0000407HP:0011476Profound sensorineural hearing impairment1YAP1 CL E G H104131473Congenital articular rigidityORPHA18216262606608
HP:0000407HP:0000408Progressive sensorineural hearing impairment1YAP1 CL E G H104131473Congenital articular rigidityORPHA18216262606608
HP:0000407HP:0008625Severe sensorineural hearing impairment1YAP1 CL E G H104131473Congenital articular rigidityORPHA18216262606608
HP:0000407HP:0000410Mixed hearing impairment1ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA120912877606480
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA120912877606480
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA120912877606480
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA120912877606480
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA120912877606480
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA120912877606480
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA120912877606480
HP:0000407HP:0008587Mild neurosensory hearing impairment1ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA120912877606480
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA120912877606480
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA120912877606480
HP:0000407HP:0011476Profound sensorineural hearing impairment1ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA120912877606480
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA120912877606480
HP:0000407HP:0008625Severe sensorineural hearing impairment1ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA120912877606480
HP:0000407HP:0000410Mixed hearing impairment1ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149420041616454
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149420041616454
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149420041616454
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149420041616454
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149420041616454
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149420041616454
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149420041616454
HP:0000407HP:0008587Mild neurosensory hearing impairment1ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149420041616454
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149420041616454
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149420041616454
HP:0000407HP:0011476Profound sensorineural hearing impairment1ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149420041616454
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149420041616454
HP:0000407HP:0008625Severe sensorineural hearing impairment1ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149420041616454
HP:0000407HP:0000410Mixed hearing impairment1ZNF469 CL E G H8462790354ORPHA1316323216612078
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ZNF469 CL E G H8462790354ORPHA1316323216612078
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ZNF469 CL E G H8462790354ORPHA1316323216612078
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ZNF469 CL E G H8462790354ORPHA1316323216612078
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ZNF469 CL E G H8462790354ORPHA1316323216612078
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ZNF469 CL E G H8462790354ORPHA1316323216612078
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ZNF469 CL E G H8462790354ORPHA1316323216612078
HP:0000407HP:0008587Mild neurosensory hearing impairment1ZNF469 CL E G H8462790354ORPHA1316323216612078
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ZNF469 CL E G H8462790354ORPHA1316323216612078
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ZNF469 CL E G H8462790354ORPHA1316323216612078
HP:0000407HP:0011476Profound sensorineural hearing impairment1ZNF469 CL E G H8462790354ORPHA1316323216612078
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ZNF469 CL E G H8462790354ORPHA1316323216612078
HP:0000407HP:0008625Severe sensorineural hearing impairment1ZNF469 CL E G H8462790354ORPHA1316323216612078
HP:0000407HP:0000410Mixed hearing impairment1ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137626498613598
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137626498613598
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137626498613598
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137626498613598
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137626498613598
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137626498613598
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137626498613598
HP:0000407HP:0008587Mild neurosensory hearing impairment1ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137626498613598
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137626498613598
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137626498613598
HP:0000407HP:0011476Profound sensorineural hearing impairment1ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137626498613598
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137626498613598
HP:0000407HP:0008625Severe sensorineural hearing impairment1ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137626498613598
HP:0000407HP:0008610Infantile sensorineural hearing impairment2AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM120601065
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM120601065
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM120601065
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1323334601691
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1323334601691
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1323334601691
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ABHD5 CL E G H5109998907ORPHA129121396604780
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ABHD5 CL E G H5109998907ORPHA129121396604780
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ABHD5 CL E G H5109998907ORPHA129121396604780
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM129121396604780
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM129121396604780
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM129121396604780
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ACOX1 CL E G H512971ORPHA1665119609751
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ACOX1 CL E G H512971ORPHA1665119609751
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ACOX1 CL E G H512971ORPHA1665119609751
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ACTB CL E G H6079107ORPHA1512132102630
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ACTB CL E G H6079107ORPHA1512132102630
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ACTB CL E G H6079107ORPHA1512132102630
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1512132102630
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1512132102630
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1512132102630
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM1512132102630
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM1512132102630
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM1512132102630
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1241171102576
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1241171102576
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1241171102576
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM1153177104620
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM1153177104620
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM1153177104620
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ADGRV1 CL E G H84059231178ORPHA1456117416602851
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ADGRV1 CL E G H84059231178ORPHA1456117416602851
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ADGRV1 CL E G H84059231178ORPHA1456117416602851
HP:0000407HP:0008610Infantile sensorineural hearing impairment2AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA160126147615900
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA160126147615900
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA160126147615900
HP:0000407HP:0008610Infantile sensorineural hearing impairment2AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1119421575608894
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1119421575608894
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1119421575608894
HP:0000407HP:0008610Infantile sensorineural hearing impairment2AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1479348600253
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1479348600253
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1479348600253
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM165919358607144
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM165919358607144
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM165919358607144
HP:0000407HP:0008610Infantile sensorineural hearing impairment2AMMECR1 CL E G H9949300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis300990C4310810OMIM1218467300195
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2AMMECR1 CL E G H9949300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis300990C4310810OMIM1218467300195
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2AMMECR1 CL E G H9949300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis300990C4310810OMIM1218467300195
HP:0000407HP:0008610Infantile sensorineural hearing impairment2AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0000407HP:0008610Infantile sensorineural hearing impairment2APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ARHGDIA CL E G H396615244Nephrotic syndrome, type 8615244C3808953OMIM165678601925
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ARHGDIA CL E G H396615244Nephrotic syndrome, type 8615244C3808953OMIM165678601925
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ARHGDIA CL E G H396615244Nephrotic syndrome, type 8615244C3808953OMIM165678601925
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA191217090616432
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA191217090616432
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA191217090616432
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ARID1B CL E G H57492251056ORPHA1175918040614556
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ARID1B CL E G H57492251056ORPHA1175918040614556
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ARID1B CL E G H57492251056ORPHA1175918040614556
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111317146615407
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111317146615407
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111317146615407
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1137694604695
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1137694604695
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1137694604695
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120113210608845
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120113210608845
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120113210608845
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ARSG CL E G H22901231183ORPHA141824102610008
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ARSG CL E G H22901231183ORPHA141824102610008
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ARSG CL E G H22901231183ORPHA141824102610008
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ATP1A3 CL E G H4781171ORPHA1993801182350
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ATP1A3 CL E G H4781171ORPHA1993801182350
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ATP1A3 CL E G H4781171ORPHA1993801182350
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1407868300197
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1407868300197
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1407868300197
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ATP6V1B1 CL E G H525267300Renal tubular acidosis with progressive nerve deafness267300C0403554OMIM1525853192132
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ATP6V1B1 CL E G H525267300Renal tubular acidosis with progressive nerve deafness267300C0403554OMIM1525853192132
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ATP6V1B1 CL E G H525267300Renal tubular acidosis with progressive nerve deafness267300C0403554OMIM1525853192132
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ATP6V1B2 CL E G H526124480Deafness, congenital, with onychodystrophy, autosomal dominant124480C2675730OMIM1167854606939
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ATP6V1B2 CL E G H526124480Deafness, congenital, with onychodystrophy, autosomal dominant124480C2675730OMIM1167854606939
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ATP6V1B2 CL E G H526124480Deafness, congenital, with onychodystrophy, autosomal dominant124480C2675730OMIM1167854606939
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ATP6V1B2 CL E G H526616455Zimmermann-Laband syndrome 2616455C4225321OMIM1167854606939
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ATP6V1B2 CL E G H526616455Zimmermann-Laband syndrome 2616455C4225321OMIM1167854606939
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ATP6V1B2 CL E G H526616455Zimmermann-Laband syndrome 2616455C4225321OMIM1167854606939
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11925886300032
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11925886300032
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11925886300032
HP:0000407HP:0008610Infantile sensorineural hearing impairment2BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0000407HP:0008610Infantile sensorineural hearing impairment2BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1894967606151
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1894967606151
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1894967606151
HP:0000407HP:0008610Infantile sensorineural hearing impairment2BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM137516695300398
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM137516695300398
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM137516695300398
HP:0000407HP:0008610Infantile sensorineural hearing impairment2BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM168820893300485
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM168820893300485
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM168820893300485
HP:0000407HP:0008610Infantile sensorineural hearing impairment2BCS1L CL E G H617123ORPHA14131020603647
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2BCS1L CL E G H617123ORPHA14131020603647
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2BCS1L CL E G H617123ORPHA14131020603647
HP:0000407HP:0008610Infantile sensorineural hearing impairment2BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0000407HP:0008610Infantile sensorineural hearing impairment2BCS1L CL E G H617262000Pili torti-deafness syndrome262000C0266006OMIM14131020603647
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2BCS1L CL E G H617262000Pili torti-deafness syndrome262000C0266006OMIM14131020603647
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2BCS1L CL E G H617262000Pili torti-deafness syndrome262000C0266006OMIM14131020603647
HP:0000407HP:0008610Infantile sensorineural hearing impairment2BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA179312703607854
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA179312703607854
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA179312703607854
HP:0000407HP:0008610Infantile sensorineural hearing impairment2BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM111821097164757
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM111821097164757
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM111821097164757
HP:0000407HP:0008610Infantile sensorineural hearing impairment2BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM111821097164757
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM111821097164757
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM111821097164757
HP:0000407HP:0008610Infantile sensorineural hearing impairment2BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM130316512606412
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM130316512606412
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM130316512606412
HP:0000407HP:0008610Infantile sensorineural hearing impairment2BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM15981122609019
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM15981122609019
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM15981122609019
HP:0000407HP:0008610Infantile sensorineural hearing impairment2BTK CL E G H69547ORPHA16751133300300
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2BTK CL E G H69547ORPHA16751133300300
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2BTK CL E G H69547ORPHA16751133300300
HP:0000407HP:0008610Infantile sensorineural hearing impairment2C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127232614477
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127232614477
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127232614477
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12831375114760
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12831375114760
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12831375114760
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CASK CL E G H8573163937ORPHA18441497300172
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CASK CL E G H8573163937ORPHA18441497300172
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CASK CL E G H8573163937ORPHA18441497300172
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CATSPER2 CL E G H11715594064ORPHA114018810607249
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CATSPER2 CL E G H11715594064ORPHA114018810607249
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CATSPER2 CL E G H11715594064ORPHA114018810607249
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM154029426612753
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM154029426612753
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM154029426612753
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CCDC50 CL E G H152137607453Deafness, autosomal dominant 44607453C1843895OMIM125618111611051
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CCDC50 CL E G H152137607453Deafness, autosomal dominant 44607453C1843895OMIM125618111611051
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CCDC50 CL E G H152137607453Deafness, autosomal dominant 44607453C1843895OMIM125618111611051
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CD151 CL E G H977609057Nephropathy with pretibial epidermolysis bullosa and deafness609057C1836823OMIM11671630602243
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CD151 CL E G H977609057Nephropathy with pretibial epidermolysis bullosa and deafness609057C1836823OMIM11671630602243
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CD151 CL E G H977609057Nephropathy with pretibial epidermolysis bullosa and deafness609057C1836823OMIM11671630602243
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CD164 CL E G H8763616969Deafness, autosomal dominant 66616969C4283893OMIM11071632603356
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CD164 CL E G H8763616969Deafness, autosomal dominant 66616969C4283893OMIM11071632603356
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CD164 CL E G H8763616969Deafness, autosomal dominant 66616969C4283893OMIM11071632603356
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CDH23 CL E G H64072231169ORPHA1452213733605516
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CDH23 CL E G H64072231169ORPHA1452213733605516
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CDH23 CL E G H64072231169ORPHA1452213733605516
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA189014550609502
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA189014550609502
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA189014550609502
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CEP78 CL E G H84131231183ORPHA155925740617110
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CEP78 CL E G H84131231183ORPHA155925740617110
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CEP78 CL E G H84131231183ORPHA155925740617110
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CEP78 CL E G H84131617236Cone-rod dystrophy and hearing loss617236C4310657OMIM155925740617110
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CEP78 CL E G H84131617236Cone-rod dystrophy and hearing loss617236C4310657OMIM155925740617110
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CEP78 CL E G H84131617236Cone-rod dystrophy and hearing loss617236C4310657OMIM155925740617110
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178221699608381
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178221699608381
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178221699608381
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CHD7 CL E G H55636612370Kallmann syndrome 5612370C2675302OMIM1293020626608892
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CHD7 CL E G H55636612370Kallmann syndrome 5612370C2675302OMIM1293020626608892
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CHD7 CL E G H55636612370Kallmann syndrome 5612370C2675302OMIM1293020626608892
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CHN1 CL E G H1123233D ercole syndromeORPHA11351943118423
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CHN1 CL E G H1123233D ercole syndromeORPHA11351943118423
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CHN1 CL E G H1123233D ercole syndromeORPHA11351943118423
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CIB2 CL E G H10518231169ORPHA122724579605564
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CIB2 CL E G H10518231169ORPHA122724579605564
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CIB2 CL E G H10518231169ORPHA122724579605564
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CISD2 CL E G H4938563463ORPHA17124212611507
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CISD2 CL E G H4938563463ORPHA17124212611507
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CISD2 CL E G H4938563463ORPHA17124212611507
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CISD2 CL E G H493856604928Wolfram syndrome 2604928C1858028OMIM17124212611507
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CISD2 CL E G H493856604928Wolfram syndrome 2604928C1858028OMIM17124212611507
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CISD2 CL E G H493856604928Wolfram syndrome 2604928C1858028OMIM17124212611507
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM12302026602024
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM12302026602024
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM12302026602024
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM14782027602023
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM14782027602023
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM14782027602023
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CLDN14 CL E G H23562614035Deafness, autosomal recessive 29614035C3279660OMIM11972035605608
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CLDN14 CL E G H23562614035Deafness, autosomal recessive 29614035C3279660OMIM11972035605608
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CLDN14 CL E G H23562614035Deafness, autosomal recessive 29614035C3279660OMIM11972035605608
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CLIC5 CL E G H53405616042Deafness, autosomal recessive 103616042C4015050OMIM112913517607293
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CLIC5 CL E G H53405616042Deafness, autosomal recessive 103616042C4015050OMIM112913517607293
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CLIC5 CL E G H53405616042Deafness, autosomal recessive 103616042C4015050OMIM112913517607293
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CLRN1 CL E G H7401231183ORPHA135812605606397
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CLRN1 CL E G H7401231183ORPHA135812605606397
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CLRN1 CL E G H7401231183ORPHA135812605606397
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA135812605606397
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA135812605606397
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA135812605606397
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CLRN1 CL E G H7401276902Usher syndrome, type 3A276902C1568248OMIM135812605606397
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CLRN1 CL E G H7401276902Usher syndrome, type 3A276902C1568248OMIM135812605606397
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CLRN1 CL E G H7401276902Usher syndrome, type 3A276902C1568248OMIM135812605606397
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14562148123825
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14562148123825
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14562148123825
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111792151600724
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111792151600724
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111792151600724
HP:0000407HP:0008610Infantile sensorineural hearing impairment2COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0000407HP:0008610Infantile sensorineural hearing impairment2COCH CL E G H1690618094DEAFNESS, AUTOSOMAL RECESSIVE 110618094CN253427OMIM12422180603196
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2COCH CL E G H1690618094DEAFNESS, AUTOSOMAL RECESSIVE 110618094CN253427OMIM12422180603196
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2COCH CL E G H1690618094DEAFNESS, AUTOSOMAL RECESSIVE 110618094CN253427OMIM12422180603196
HP:0000407HP:0008610Infantile sensorineural hearing impairment2COL11A1 CL E G H1301560ORPHA122532186120280
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2COL11A1 CL E G H1301560ORPHA122532186120280
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2COL11A1 CL E G H1301560ORPHA122532186120280
HP:0000407HP:0008610Infantile sensorineural hearing impairment2COL11A1 CL E G H130190654ORPHA122532186120280
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2COL11A1 CL E G H130190654ORPHA122532186120280
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2COL11A1 CL E G H130190654ORPHA122532186120280
HP:0000407HP:0008610Infantile sensorineural hearing impairment2COL11A1 CL E G H1301250984ORPHA122532186120280
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2COL11A1 CL E G H1301250984ORPHA122532186120280
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2COL11A1 CL E G H1301250984ORPHA122532186120280
HP:0000407HP:0008610Infantile sensorineural hearing impairment2COL11A1 CL E G H1301440354ORPHA122532186120280
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2COL11A1 CL E G H1301440354ORPHA122532186120280
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2COL11A1 CL E G H1301440354ORPHA122532186120280
HP:0000407HP:0008610Infantile sensorineural hearing impairment2COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM122532186120280
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM122532186120280
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM122532186120280
HP:0000407HP:0008610Infantile sensorineural hearing impairment2COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM122532186120280
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM122532186120280
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM122532186120280
HP:0000407HP:0008610Infantile sensorineural hearing impairment2COL11A2 CL E G H13021427ORPHA117592187120290
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2COL11A2 CL E G H13021427ORPHA117592187120290
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2COL11A2 CL E G H13021427ORPHA117592187120290
HP:0000407HP:0008610Infantile sensorineural hearing impairment2COL11A2 CL E G H1302166100ORPHA117592187120290
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2COL11A2 CL E G H1302166100ORPHA117592187120290
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2COL11A2 CL E G H1302166100ORPHA117592187120290
HP:0000407HP:0008610Infantile sensorineural hearing impairment2COL11A2 CL E G H1302601868Deafness, autosomal dominant 13601868C1866095OMIM117592187120290
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2COL11A2 CL E G H1302601868Deafness, autosomal dominant 13601868C1866095OMIM117592187120290
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2COL11A2 CL E G H1302601868Deafness, autosomal dominant 13601868C1866095OMIM117592187120290
HP:0000407HP:0008610Infantile sensorineural hearing impairment2COL11A2 CL E G H1302609706Deafness, autosomal recessive 53609706C1864746OMIM117592187120290
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2COL11A2 CL E G H1302609706Deafness, autosomal recessive 53609706C1864746OMIM117592187120290
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2COL11A2 CL E G H1302609706Deafness, autosomal recessive 53609706C1864746OMIM117592187120290
HP:0000407HP:0008610Infantile sensorineural hearing impairment2COL11A2 CL E G H1302215150Otospondylomegaepiphyseal dysplasia215150C0432210OMIM117592187120290
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2COL11A2 CL E G H1302215150Otospondylomegaepiphyseal dysplasia215150C0432210OMIM117592187120290
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2COL11A2 CL E G H1302215150Otospondylomegaepiphyseal dysplasia215150C0432210OMIM117592187120290
HP:0000407HP:0008610Infantile sensorineural hearing impairment2COL11A2 CL E G H1302184840Stickler syndrome, type 3184840C1861481OMIM117592187120290
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2COL11A2 CL E G H1302184840Stickler syndrome, type 3184840C1861481OMIM117592187120290
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2COL11A2 CL E G H1302184840Stickler syndrome, type 3184840C1861481OMIM117592187120290
HP:0000407HP:0008610Infantile sensorineural hearing impairment2COL25A1 CL E G H84570233D ercole syndromeORPHA17818603610004
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2COL25A1 CL E G H84570233D ercole syndromeORPHA17818603610004
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2COL25A1 CL E G H84570233D ercole syndromeORPHA17818603610004
HP:0000407HP:0008610Infantile sensorineural hearing impairment2COL2A1 CL E G H128090653ORPHA123802200120140
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2COL2A1 CL E G H128090653ORPHA123802200120140
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2COL2A1 CL E G H128090653ORPHA123802200120140
HP:0000407HP:0008610Infantile sensorineural hearing impairment2COL2A1 CL E G H1280271700Spondyloperipheral dysplasia271700C0796173OMIM123802200120140
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2COL2A1 CL E G H1280271700Spondyloperipheral dysplasia271700C0796173OMIM123802200120140
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2COL2A1 CL E G H1280271700Spondyloperipheral dysplasia271700C0796173OMIM123802200120140
HP:0000407HP:0008610Infantile sensorineural hearing impairment2COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM123802200120140
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM123802200120140
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM123802200120140
HP:0000407HP:0008610Infantile sensorineural hearing impairment2COL4A3 CL E G H1285104200Alport syndrome, autosomal dominant104200C1567743OMIM120402204120070
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2COL4A3 CL E G H1285104200Alport syndrome, autosomal dominant104200C1567743OMIM120402204120070
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2COL4A3 CL E G H1285104200Alport syndrome, autosomal dominant104200C1567743OMIM120402204120070
HP:0000407HP:0008610Infantile sensorineural hearing impairment2COL4A5 CL E G H1287301050Alport syndrome, X-linked recessive301050C1567742OMIM121612207303630
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2COL4A5 CL E G H1287301050Alport syndrome, X-linked recessive301050C1567742OMIM121612207303630
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2COL4A5 CL E G H1287301050Alport syndrome, X-linked recessive301050C1567742OMIM121612207303630
HP:0000407HP:0008610Infantile sensorineural hearing impairment2COL9A1 CL E G H1297250984ORPHA111302217120210
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2COL9A1 CL E G H1297250984ORPHA111302217120210
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2COL9A1 CL E G H1297250984ORPHA111302217120210
HP:0000407HP:0008610Infantile sensorineural hearing impairment2COL9A1 CL E G H1297614134Stickler syndrome, type 4614134C3279941OMIM111302217120210
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2COL9A1 CL E G H1297614134Stickler syndrome, type 4614134C3279941OMIM111302217120210
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2COL9A1 CL E G H1297614134Stickler syndrome, type 4614134C3279941OMIM111302217120210
HP:0000407HP:0008610Infantile sensorineural hearing impairment2COL9A2 CL E G H1298250984ORPHA18322218120260
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2COL9A2 CL E G H1298250984ORPHA18322218120260
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2COL9A2 CL E G H1298250984ORPHA18322218120260
HP:0000407HP:0008610Infantile sensorineural hearing impairment2COL9A2 CL E G H1298614284Stickler syndrome, type 5614284C3280342OMIM18322218120260
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2COL9A2 CL E G H1298614284Stickler syndrome, type 5614284C3280342OMIM18322218120260
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2COL9A2 CL E G H1298614284Stickler syndrome, type 5614284C3280342OMIM18322218120260
HP:0000407HP:0008610Infantile sensorineural hearing impairment2COL9A3 CL E G H1299250984ORPHA112412219120270
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2COL9A3 CL E G H1299250984ORPHA112412219120270
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2COL9A3 CL E G H1299250984ORPHA112412219120270
HP:0000407HP:0008610Infantile sensorineural hearing impairment2COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0000407HP:0008610Infantile sensorineural hearing impairment2COQ6 CL E G H51004614650Coenzyme Q10 deficiency, primary, 6614650C3553349OMIM127320233614647
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2COQ6 CL E G H51004614650Coenzyme Q10 deficiency, primary, 6614650C3553349OMIM127320233614647
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2COQ6 CL E G H51004614650Coenzyme Q10 deficiency, primary, 6614650C3553349OMIM127320233614647
HP:0000407HP:0008610Infantile sensorineural hearing impairment2COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0000407HP:0008610Infantile sensorineural hearing impairment2COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0000407HP:0008610Infantile sensorineural hearing impairment2COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0000407HP:0008610Infantile sensorineural hearing impairment2COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0000407HP:0008610Infantile sensorineural hearing impairment2COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0000407HP:0008610Infantile sensorineural hearing impairment2COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0000407HP:0008610Infantile sensorineural hearing impairment2COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA116332343604210
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA116332343604210
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA116332343604210
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14992383602225
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14992383602225
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14992383602225
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CRYM CL E G H1428616357Deafness, autosomal dominant 40616357C4084708OMIM11152418123740
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CRYM CL E G H1428616357Deafness, autosomal dominant 40616357C4084708OMIM11152418123740
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CRYM CL E G H1428616357Deafness, autosomal dominant 40616357C4084708OMIM11152418123740
HP:0000407HP:0008610Infantile sensorineural hearing impairment2DAB1 CL E G H1600363710ORPHA11072661603448
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2DAB1 CL E G H1600363710ORPHA11072661603448
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2DAB1 CL E G H1600363710ORPHA11072661603448
HP:0000407HP:0008610Infantile sensorineural hearing impairment2DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0000407HP:0008610Infantile sensorineural hearing impairment2DCDC2 CL E G H51473610212Deafness, autosomal recessive 66610212C1857750OMIM126118141605755
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2DCDC2 CL E G H51473610212Deafness, autosomal recessive 66610212C1857750OMIM126118141605755
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2DCDC2 CL E G H51473610212Deafness, autosomal recessive 66610212C1857750OMIM126118141605755
HP:0000407HP:0008610Infantile sensorineural hearing impairment2DCHS1 CL E G H8642601390601390601390OMIM1120513681603057
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2DCHS1 CL E G H8642601390601390601390OMIM1120513681603057
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2DCHS1 CL E G H8642601390601390601390OMIM1120513681603057
HP:0000407HP:0008610Infantile sensorineural hearing impairment2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11422718600811
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11422718600811
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11422718600811
HP:0000407HP:0008610Infantile sensorineural hearing impairment2DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM12392858601465
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM12392858601465
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM12392858601465
HP:0000407HP:0008610Infantile sensorineural hearing impairment2DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143420603608172
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143420603608172
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143420603608172
HP:0000407HP:0008610Infantile sensorineural hearing impairment2DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA176417211605584
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA176417211605584
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA176417211605584
HP:0000407HP:0008610Infantile sensorineural hearing impairment2DIABLO CL E G H56616614152Deafness, autosomal dominant 64614152C3279948OMIM112821528605219
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2DIABLO CL E G H56616614152Deafness, autosomal dominant 64614152C3279948OMIM112821528605219
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2DIABLO CL E G H56616614152Deafness, autosomal dominant 64614152C3279948OMIM112821528605219
HP:0000407HP:0008610Infantile sensorineural hearing impairment2DIAPH1 CL E G H1729124900Deafness, autosomal dominant 1124900C1852282OMIM112212876602121
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2DIAPH1 CL E G H1729124900Deafness, autosomal dominant 1124900C1852282OMIM112212876602121
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2DIAPH1 CL E G H1729124900Deafness, autosomal dominant 1124900C1852282OMIM112212876602121
HP:0000407HP:0008610Infantile sensorineural hearing impairment2DIAPH3 CL E G H81624609129Auditory neuropathy, autosomal dominant, 1609129C1836743OMIM141515480614567
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2DIAPH3 CL E G H81624609129Auditory neuropathy, autosomal dominant, 1609129C1836743OMIM141515480614567
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2DIAPH3 CL E G H81624609129Auditory neuropathy, autosomal dominant, 1609129C1836743OMIM141515480614567
HP:0000407HP:0008610Infantile sensorineural hearing impairment2DLX5 CL E G H1749220600Split-hand/foot malformation 1 with sensorineural hearing loss220600C1857344OMIM1582918600028
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2DLX5 CL E G H1749220600Split-hand/foot malformation 1 with sensorineural hearing loss220600C1857344OMIM1582918600028
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2DLX5 CL E G H1749220600Split-hand/foot malformation 1 with sensorineural hearing loss220600C1857344OMIM1582918600028
HP:0000407HP:0008610Infantile sensorineural hearing impairment2DMP1 CL E G H1758289176ORPHA12092932600980
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2DMP1 CL E G H1758289176ORPHA12092932600980
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2DMP1 CL E G H1758289176ORPHA12092932600980
HP:0000407HP:0008610Infantile sensorineural hearing impairment2DMP1 CL E G H1758241520Autosomal recessive hypophosphatemic vitamin D refractory rickets241520C0342643OMIM12092932600980
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2DMP1 CL E G H1758241520Autosomal recessive hypophosphatemic vitamin D refractory rickets241520C0342643OMIM12092932600980
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2DMP1 CL E G H1758241520Autosomal recessive hypophosphatemic vitamin D refractory rickets241520C0342643OMIM12092932600980
HP:0000407HP:0008610Infantile sensorineural hearing impairment2DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0000407HP:0008610Infantile sensorineural hearing impairment2DNMT1 CL E G H1786314404ORPHA111962976126375
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2DNMT1 CL E G H1786314404ORPHA111962976126375
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2DNMT1 CL E G H1786314404ORPHA111962976126375
HP:0000407HP:0008610Infantile sensorineural hearing impairment2DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0000407HP:0008610Infantile sensorineural hearing impairment2DNMT1 CL E G H1786614116Hereditary sensory neuropathy type IE614116C3279885OMIM111962976126375
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2DNMT1 CL E G H1786614116Hereditary sensory neuropathy type IE614116C3279885OMIM111962976126375
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2DNMT1 CL E G H1786614116Hereditary sensory neuropathy type IE614116C3279885OMIM111962976126375
HP:0000407HP:0008610Infantile sensorineural hearing impairment2DUX4 CL E G H100288687269ORPHA1250800606009
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2DUX4 CL E G H100288687269ORPHA1250800606009
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2DUX4 CL E G H100288687269ORPHA1250800606009
HP:0000407HP:0008610Infantile sensorineural hearing impairment2EDN3 CL E G H1908613265Waardenburg syndrome type 4B613265C2750457OMIM11703178131242
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2EDN3 CL E G H1908613265Waardenburg syndrome type 4B613265C2750457OMIM11703178131242
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2EDN3 CL E G H1908613265Waardenburg syndrome type 4B613265C2750457OMIM11703178131242
HP:0000407HP:0008610Infantile sensorineural hearing impairment2EDNRB CL E G H1910895ORPHA13163180131244
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2EDNRB CL E G H1910895ORPHA13163180131244
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2EDNRB CL E G H1910895ORPHA13163180131244
HP:0000407HP:0008610Infantile sensorineural hearing impairment2EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM13163180131244
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM13163180131244
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM13163180131244
HP:0000407HP:0008610Infantile sensorineural hearing impairment2EFNB1 CL E G H19471520ORPHA12573226300035
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2EFNB1 CL E G H19471520ORPHA12573226300035
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2EFNB1 CL E G H19471520ORPHA12573226300035
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ENPP1 CL E G H5167289176ORPHA15893356173335
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ENPP1 CL E G H5167289176ORPHA15893356173335
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ENPP1 CL E G H5167289176ORPHA15893356173335
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ERCC1 CL E G H20671466ORPHA11613433126380
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ERCC1 CL E G H20671466ORPHA11613433126380
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ERCC1 CL E G H20671466ORPHA11613433126380
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ERCC2 CL E G H20681466ORPHA115723434126340
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ERCC2 CL E G H20681466ORPHA115723434126340
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ERCC2 CL E G H20681466ORPHA115723434126340
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA115723434126340
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA115723434126340
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA115723434126340
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA15233435133510
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA15233435133510
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA15233435133510
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM15233435133510
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM15233435133510
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM15233435133510
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA17263436133520
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA17263436133520
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA17263436133520
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ERCC5 CL E G H20731466ORPHA14913437133530
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ERCC5 CL E G H20731466ORPHA14913437133530
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ERCC5 CL E G H20731466ORPHA14913437133530
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA14913437133530
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA14913437133530
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA14913437133530
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ERCC6 CL E G H20741466ORPHA116453438609413
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ERCC6 CL E G H20741466ORPHA116453438609413
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ERCC6 CL E G H20741466ORPHA116453438609413
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM116453438609413
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM116453438609413
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM116453438609413
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM116453438609413
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM116453438609413
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM116453438609413
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM14843439609412
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM14843439609412
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM14843439609412
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ESPN CL E G H83715609006Deafness, autosomal recessive 36, with or without vestibular involvement609006C1837007OMIM143013281606351
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ESPN CL E G H83715609006Deafness, autosomal recessive 36, with or without vestibular involvement609006C1837007OMIM143013281606351
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ESPN CL E G H83715609006Deafness, autosomal recessive 36, with or without vestibular involvement609006C1837007OMIM143013281606351
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ESRRB CL E G H2103608565Deafness, autosomal recessive 35608565C1837857OMIM12553473602167
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ESRRB CL E G H2103608565Deafness, autosomal recessive 35608565C1837857OMIM12553473602167
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ESRRB CL E G H2103608565Deafness, autosomal recessive 35608565C1837857OMIM12553473602167
HP:0000407HP:0008610Infantile sensorineural hearing impairment2EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM127717097602238
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM127717097602238
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM127717097602238
HP:0000407HP:0008610Infantile sensorineural hearing impairment2EYA1 CL E G H213852429ORPHA15133519601653
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2EYA1 CL E G H213852429ORPHA15133519601653
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2EYA1 CL E G H213852429ORPHA15133519601653
HP:0000407HP:0008610Infantile sensorineural hearing impairment2EYA1 CL E G H2138602588Branchiootic syndrome602588C1865143OMIM15133519601653
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2EYA1 CL E G H2138602588Branchiootic syndrome602588C1865143OMIM15133519601653
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2EYA1 CL E G H2138602588Branchiootic syndrome602588C1865143OMIM15133519601653
HP:0000407HP:0008610Infantile sensorineural hearing impairment2EYA4 CL E G H2070601316Deafness, autosomal dominant 10601316C1832476OMIM18373522603550
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2EYA4 CL E G H2070601316Deafness, autosomal dominant 10601316C1832476OMIM18373522603550
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2EYA4 CL E G H2070601316Deafness, autosomal dominant 10601316C1832476OMIM18373522603550
HP:0000407HP:0008610Infantile sensorineural hearing impairment2EYA4 CL E G H2070605362Dilated cardiomyopathy 1J605362C1854368OMIM18373522603550
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2EYA4 CL E G H2070605362Dilated cardiomyopathy 1J605362C1854368OMIM18373522603550
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2EYA4 CL E G H2070605362Dilated cardiomyopathy 1J605362C1854368OMIM18373522603550
HP:0000407HP:0008610Infantile sensorineural hearing impairment2EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1383021555612424
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1383021555612424
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1383021555612424
HP:0000407HP:0008610Infantile sensorineural hearing impairment2FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA169925808613596
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA169925808613596
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA169925808613596
HP:0000407HP:0008610Infantile sensorineural hearing impairment2FAS CL E G H3553437ORPHA138711920134637
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2FAS CL E G H3553437ORPHA138711920134637
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2FAS CL E G H3553437ORPHA138711920134637
HP:0000407HP:0008610Infantile sensorineural hearing impairment2FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0000407HP:0008610Infantile sensorineural hearing impairment2FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM1219423109612411
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM1219423109612411
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM1219423109612411
HP:0000407HP:0008610Infantile sensorineural hearing impairment2FGF3 CL E G H224890024ORPHA11073681164950
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2FGF3 CL E G H224890024ORPHA11073681164950
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2FGF3 CL E G H224890024ORPHA11073681164950
HP:0000407HP:0008610Infantile sensorineural hearing impairment2FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM19363688136350
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM19363688136350
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM19363688136350
HP:0000407HP:0008610Infantile sensorineural hearing impairment2FGFR3 CL E G H226153271ORPHA19163690134934
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2FGFR3 CL E G H226153271ORPHA19163690134934
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2FGFR3 CL E G H226153271ORPHA19163690134934
HP:0000407HP:0008610Infantile sensorineural hearing impairment2FGFR3 CL E G H2261610474Camptodactyly, tall stature, and hearing loss syndrome610474C1864852OMIM19163690134934
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2FGFR3 CL E G H2261610474Camptodactyly, tall stature, and hearing loss syndrome610474C1864852OMIM19163690134934
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2FGFR3 CL E G H2261610474Camptodactyly, tall stature, and hearing loss syndrome610474C1864852OMIM19163690134934
HP:0000407HP:0008610Infantile sensorineural hearing impairment2FGFR3 CL E G H2261602849Muenke syndrome602849C1864436OMIM19163690134934
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2FGFR3 CL E G H2261602849Muenke syndrome602849C1864436OMIM19163690134934
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2FGFR3 CL E G H2261602849Muenke syndrome602849C1864436OMIM19163690134934
HP:0000407HP:0008610Infantile sensorineural hearing impairment2FKBP14 CL E G H55033300179ORPHA122018625614505
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2FKBP14 CL E G H55033300179ORPHA122018625614505
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2FKBP14 CL E G H55033300179ORPHA122018625614505
HP:0000407HP:0008610Infantile sensorineural hearing impairment2FLNA CL E G H23161826Dexamethasone sensitive hypertensionORPHA130333754300017
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2FLNA CL E G H23161826Dexamethasone sensitive hypertensionORPHA130333754300017
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2FLNA CL E G H23161826Dexamethasone sensitive hypertensionORPHA130333754300017
HP:0000407HP:0008610Infantile sensorineural hearing impairment2FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM130333754300017
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM130333754300017
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM130333754300017
HP:0000407HP:0008610Infantile sensorineural hearing impairment2FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM116243755603381
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM116243755603381
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM116243755603381
HP:0000407HP:0008610Infantile sensorineural hearing impairment2FOXC1 CL E G H2296602482Axenfeld-Rieger syndrome type 3602482C2678503OMIM15573800601090
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2FOXC1 CL E G H2296602482Axenfeld-Rieger syndrome type 3602482C2678503OMIM15573800601090
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2FOXC1 CL E G H2296602482Axenfeld-Rieger syndrome type 3602482C2678503OMIM15573800601090
HP:0000407HP:0008610Infantile sensorineural hearing impairment2FOXI1 CL E G H2299705ORPHA11533815601093
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2FOXI1 CL E G H2299705ORPHA11533815601093
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2FOXI1 CL E G H2299705ORPHA11533815601093
HP:0000407HP:0008610Infantile sensorineural hearing impairment2FOXI1 CL E G H2299600791Enlarged vestibular aqueduct600791C1863752OMIM11533815601093
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2FOXI1 CL E G H2299600791Enlarged vestibular aqueduct600791C1863752OMIM11533815601093
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2FOXI1 CL E G H2299600791Enlarged vestibular aqueduct600791C1863752OMIM11533815601093
HP:0000407HP:0008610Infantile sensorineural hearing impairment2FRG1 CL E G H2483269ORPHA11363954601278
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2FRG1 CL E G H2483269ORPHA11363954601278
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2FRG1 CL E G H2483269ORPHA11363954601278
HP:0000407HP:0008610Infantile sensorineural hearing impairment2FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM11363954601278
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM11363954601278
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM11363954601278
HP:0000407HP:0008610Infantile sensorineural hearing impairment2FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15803960607643
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15803960607643
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15803960607643
HP:0000407HP:0008610Infantile sensorineural hearing impairment2FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0000407HP:0008610Infantile sensorineural hearing impairment2GAB1 CL E G H2549605428Deafness, autosomal recessive 26605428C1854275OMIM1654066604439
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2GAB1 CL E G H2549605428Deafness, autosomal recessive 26605428C1854275OMIM1654066604439
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2GAB1 CL E G H2549605428Deafness, autosomal recessive 26605428C1854275OMIM1654066604439
HP:0000407HP:0008610Infantile sensorineural hearing impairment2GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0000407HP:0008610Infantile sensorineural hearing impairment2GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA113144171137295
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA113144171137295
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA113144171137295
HP:0000407HP:0008610Infantile sensorineural hearing impairment2GDF5 CL E G H82003250ORPHA12454220601146
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2GDF5 CL E G H82003250ORPHA12454220601146
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2GDF5 CL E G H82003250ORPHA12454220601146
HP:0000407HP:0008610Infantile sensorineural hearing impairment2GFER CL E G H2671613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay613076C2751320OMIM12004236600924
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2GFER CL E G H2671613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay613076C2751320OMIM12004236600924
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2GFER CL E G H2671613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay613076C2751320OMIM12004236600924
HP:0000407HP:0008610Infantile sensorineural hearing impairment2GJB2 CL E G H2706477ORPHA15714284121011
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2GJB2 CL E G H2706477ORPHA15714284121011
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2GJB2 CL E G H2706477ORPHA15714284121011
HP:0000407HP:0008610Infantile sensorineural hearing impairment2GJB2 CL E G H2706494ORPHA15714284121011
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2GJB2 CL E G H2706494ORPHA15714284121011
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2GJB2 CL E G H2706494ORPHA15714284121011
HP:0000407HP:0008610Infantile sensorineural hearing impairment2GJB2 CL E G H27062698ORPHA15714284121011
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2GJB2 CL E G H27062698ORPHA15714284121011
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2GJB2 CL E G H27062698ORPHA15714284121011
HP:0000407HP:0008610Infantile sensorineural hearing impairment2GJB2 CL E G H2706601544Deafness, autosomal dominant 3a601544C2675750OMIM15714284121011
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2GJB2 CL E G H2706601544Deafness, autosomal dominant 3a601544C2675750OMIM15714284121011
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2GJB2 CL E G H2706601544Deafness, autosomal dominant 3a601544C2675750OMIM15714284121011
HP:0000407HP:0008610Infantile sensorineural hearing impairment2GJB2 CL E G H2706220290Deafness, autosomal recessive 1A220290C2673759OMIM15714284121011
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2GJB2 CL E G H2706220290Deafness, autosomal recessive 1A220290C2673759OMIM15714284121011
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2GJB2 CL E G H2706220290Deafness, autosomal recessive 1A220290C2673759OMIM15714284121011
HP:0000407HP:0008610Infantile sensorineural hearing impairment2GJB2 CL E G H27062202Exostoses anetodermia brachydactyly type EORPHA15714284121011
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2GJB2 CL E G H27062202Exostoses anetodermia brachydactyly type EORPHA15714284121011
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2GJB2 CL E G H27062202Exostoses anetodermia brachydactyly type EORPHA15714284121011
HP:0000407HP:0008610Infantile sensorineural hearing impairment2GJB2 CL E G H2706602540Hystrix-like ichthyosis with deafness602540C1865234OMIM15714284121011
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2GJB2 CL E G H2706602540Hystrix-like ichthyosis with deafness602540C1865234OMIM15714284121011
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2GJB2 CL E G H2706602540Hystrix-like ichthyosis with deafness602540C1865234OMIM15714284121011
HP:0000407HP:0008610Infantile sensorineural hearing impairment2GJB2 CL E G H2706148210Keratitis-ichthyosis-deafness syndrome, autosomal dominant148210C1835678OMIM15714284121011
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2GJB2 CL E G H2706148210Keratitis-ichthyosis-deafness syndrome, autosomal dominant148210C1835678OMIM15714284121011
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2GJB2 CL E G H2706148210Keratitis-ichthyosis-deafness syndrome, autosomal dominant148210C1835678OMIM15714284121011
HP:0000407HP:0008610Infantile sensorineural hearing impairment2GJB3 CL E G H2707220290Deafness, autosomal recessive 1A220290C2673759OMIM11954285603324
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2GJB3 CL E G H2707220290Deafness, autosomal recessive 1A220290C2673759OMIM11954285603324
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2GJB3 CL E G H2707220290Deafness, autosomal recessive 1A220290C2673759OMIM11954285603324
HP:0000407HP:0008610Infantile sensorineural hearing impairment2GJB6 CL E G H10804477ORPHA12564288604418
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2GJB6 CL E G H10804477ORPHA12564288604418
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2GJB6 CL E G H10804477ORPHA12564288604418
HP:0000407HP:0008610Infantile sensorineural hearing impairment2GJB6 CL E G H10804220290Deafness, autosomal recessive 1A220290C2673759OMIM12564288604418
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2GJB6 CL E G H10804220290Deafness, autosomal recessive 1A220290C2673759OMIM12564288604418
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2GJB6 CL E G H10804220290Deafness, autosomal recessive 1A220290C2673759OMIM12564288604418
HP:0000407HP:0008610Infantile sensorineural hearing impairment2GJC2 CL E G H57165320401ORPHA132317494608803
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2GJC2 CL E G H57165320401ORPHA132317494608803
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2GJC2 CL E G H57165320401ORPHA132317494608803
HP:0000407HP:0008610Infantile sensorineural hearing impairment2GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM132317494608803
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM132317494608803
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM132317494608803
HP:0000407HP:0008610Infantile sensorineural hearing impairment2GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM136422932615320
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM136422932615320
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM136422932615320
HP:0000407HP:0008610Infantile sensorineural hearing impairment2GRHL2 CL E G H79977608641Deafness, autosomal dominant 28608641C1837640OMIM12372799608576
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2GRHL2 CL E G H79977608641Deafness, autosomal dominant 28608641C1837640OMIM12372799608576
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2GRHL2 CL E G H79977608641Deafness, autosomal dominant 28608641C1837640OMIM12372799608576
HP:0000407HP:0008610Infantile sensorineural hearing impairment2GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0000407HP:0008610Infantile sensorineural hearing impairment2GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0000407HP:0008610Infantile sensorineural hearing impairment2GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12154679602275
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12154679602275
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12154679602275
HP:0000407HP:0008610Infantile sensorineural hearing impairment2GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM110484689600179
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM110484689600179
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM110484689600179
HP:0000407HP:0008610Infantile sensorineural hearing impairment2HACE1 CL E G H57531464282ORPHA122721033610876
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2HACE1 CL E G H57531464282ORPHA122721033610876
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2HACE1 CL E G H57531464282ORPHA122721033610876
HP:0000407HP:0008610Infantile sensorineural hearing impairment2HARS CL E G H3035231183ORPHA14816142810
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2HARS CL E G H3035231183ORPHA14816142810
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2HARS CL E G H3035231183ORPHA14816142810
HP:0000407HP:0008610Infantile sensorineural hearing impairment2HARS2 CL E G H23438614926Perrault syndrome 2614926C3554105OMIM11984817600783
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2HARS2 CL E G H23438614926Perrault syndrome 2614926C3554105OMIM11984817600783
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2HARS2 CL E G H23438614926Perrault syndrome 2614926C3554105OMIM11984817600783
HP:0000407HP:0008610Infantile sensorineural hearing impairment2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0000407HP:0008610Infantile sensorineural hearing impairment2HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1104926527610453
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1104926527610453
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1104926527610453
HP:0000407HP:0008610Infantile sensorineural hearing impairment2HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11435099142955
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11435099142955
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11435099142955
HP:0000407HP:0008610Infantile sensorineural hearing impairment2HOXA11 CL E G H3207605432Radioulnar synostosis with amegakaryocytic thrombocytopenia605432C1854273OMIM1715101142958
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2HOXA11 CL E G H3207605432Radioulnar synostosis with amegakaryocytic thrombocytopenia605432C1854273OMIM1715101142958
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2HOXA11 CL E G H3207605432Radioulnar synostosis with amegakaryocytic thrombocytopenia605432C1854273OMIM1715101142958
HP:0000407HP:0008610Infantile sensorineural hearing impairment2HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1445111142968
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1445111142968
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1445111142968
HP:0000407HP:0008610Infantile sensorineural hearing impairment2HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0000407HP:0008610Infantile sensorineural hearing impairment2HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM19835213601860
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM19835213601860
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM19835213601860
HP:0000407HP:0008610Infantile sensorineural hearing impairment2IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM146429685612801
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM146429685612801
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM146429685612801
HP:0000407HP:0008610Infantile sensorineural hearing impairment2IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12995385604526
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12995385604526
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12995385604526
HP:0000407HP:0008610Infantile sensorineural hearing impairment2IDUA CL E G H342593476ORPHA117885391252800
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2IDUA CL E G H342593476ORPHA117885391252800
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2IDUA CL E G H342593476ORPHA117885391252800
HP:0000407HP:0008610Infantile sensorineural hearing impairment2IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1168629077614620
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1168629077614620
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1168629077614620
HP:0000407HP:0008610Infantile sensorineural hearing impairment2IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1135630391607386
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1135630391607386
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1135630391607386
HP:0000407HP:0008610Infantile sensorineural hearing impairment2IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA139020606600595
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA139020606600595
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA139020606600595
HP:0000407HP:0008610Infantile sensorineural hearing impairment2IGBP1 CL E G H347652055ORPHA11625461300139
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2IGBP1 CL E G H347652055ORPHA11625461300139
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2IGBP1 CL E G H347652055ORPHA11625461300139
HP:0000407HP:0008610Infantile sensorineural hearing impairment2IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM11625461300139
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM11625461300139
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM11625461300139
HP:0000407HP:0008610Infantile sensorineural hearing impairment2IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM11975464147440
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM11975464147440
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM11975464147440
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ILDR1 CL E G H286676609646Deafness, autosomal recessive 42609646C1864818OMIM123728741609739
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ILDR1 CL E G H286676609646Deafness, autosomal recessive 42609646C1864818OMIM123728741609739
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ILDR1 CL E G H286676609646Deafness, autosomal recessive 42609646C1864818OMIM123728741609739
HP:0000407HP:0008610Infantile sensorineural hearing impairment2IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15426052146690
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15426052146690
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15426052146690
HP:0000407HP:0008610Infantile sensorineural hearing impairment2IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA190918362607056
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA190918362607056
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA190918362607056
HP:0000407HP:0008610Infantile sensorineural hearing impairment2IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM110414361606195
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM110414361606195
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM110414361606195
HP:0000407HP:0008610Infantile sensorineural hearing impairment2KCNJ10 CL E G H3766705ORPHA13816256602208
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2KCNJ10 CL E G H3766705ORPHA13816256602208
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2KCNJ10 CL E G H3766705ORPHA13816256602208
HP:0000407HP:0008610Infantile sensorineural hearing impairment2KCNJ10 CL E G H3766199343ORPHA13816256602208
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2KCNJ10 CL E G H3766199343ORPHA13816256602208
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2KCNJ10 CL E G H3766199343ORPHA13816256602208
HP:0000407HP:0008610Infantile sensorineural hearing impairment2KCNJ10 CL E G H3766600791Enlarged vestibular aqueduct600791C1863752OMIM13816256602208
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2KCNJ10 CL E G H3766600791Enlarged vestibular aqueduct600791C1863752OMIM13816256602208
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2KCNJ10 CL E G H3766600791Enlarged vestibular aqueduct600791C1863752OMIM13816256602208
HP:0000407HP:0008610Infantile sensorineural hearing impairment2KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0000407HP:0008610Infantile sensorineural hearing impairment2KDM6A CL E G H74032322ORPHA191612637300128
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2KDM6A CL E G H74032322ORPHA191612637300128
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2KDM6A CL E G H74032322ORPHA191612637300128
HP:0000407HP:0008610Infantile sensorineural hearing impairment2KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1132722219613344
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1132722219613344
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1132722219613344
HP:0000407HP:0008610Infantile sensorineural hearing impairment2KITLG CL E G H4254895ORPHA11006343184745
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2KITLG CL E G H4254895ORPHA11006343184745
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2KITLG CL E G H4254895ORPHA11006343184745
HP:0000407HP:0008610Infantile sensorineural hearing impairment2KITLG CL E G H4254616697Deafness, autosomal dominant 69616697C4225241OMIM11006343184745
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2KITLG CL E G H4254616697Deafness, autosomal dominant 69616697C4225241OMIM11006343184745
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2KITLG CL E G H4254616697Deafness, autosomal dominant 69616697C4225241OMIM11006343184745
HP:0000407HP:0008610Infantile sensorineural hearing impairment2KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141615865615757
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141615865615757
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141615865615757
HP:0000407HP:0008610Infantile sensorineural hearing impairment2KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA133715646611119
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA133715646611119
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA133715646611119
HP:0000407HP:0008610Infantile sensorineural hearing impairment2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0000407HP:0008610Infantile sensorineural hearing impairment2KMT2D CL E G H80852322ORPHA143237133602113
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2KMT2D CL E G H80852322ORPHA143237133602113
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2KMT2D CL E G H80852322ORPHA143237133602113
HP:0000407HP:0008610Infantile sensorineural hearing impairment2LHX3 CL E G H8022231720ORPHA14806595600577
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2LHX3 CL E G H8022231720ORPHA14806595600577
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2LHX3 CL E G H8022231720ORPHA14806595600577
HP:0000407HP:0008610Infantile sensorineural hearing impairment2LHX3 CL E G H8022221750Pituitary hormone deficiency, combined 3221750C3489787OMIM14806595600577
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2LHX3 CL E G H8022221750Pituitary hormone deficiency, combined 3221750C3489787OMIM14806595600577
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2LHX3 CL E G H8022221750Pituitary hormone deficiency, combined 3221750C3489787OMIM14806595600577
HP:0000407HP:0008610Infantile sensorineural hearing impairment2LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0000407HP:0008610Infantile sensorineural hearing impairment2LMNA CL E G H4000740Aortic arch interruptionORPHA118146636150330
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2LMNA CL E G H4000740Aortic arch interruptionORPHA118146636150330
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2LMNA CL E G H4000740Aortic arch interruptionORPHA118146636150330
HP:0000407HP:0008610Infantile sensorineural hearing impairment2LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM15506654602575
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM15506654602575
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM15506654602575
HP:0000407HP:0008610Infantile sensorineural hearing impairment2LONP1 CL E G H93611458ORPHA17499479605490
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2LONP1 CL E G H93611458ORPHA17499479605490
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2LONP1 CL E G H93611458ORPHA17499479605490
HP:0000407HP:0008610Infantile sensorineural hearing impairment2LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12426685604863
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12426685604863
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12426685604863
HP:0000407HP:0008610Infantile sensorineural hearing impairment2LRP2 CL E G H40362143Junctional epidermolysis bullosa inversaORPHA129376694600073
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2LRP2 CL E G H40362143Junctional epidermolysis bullosa inversaORPHA129376694600073
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2LRP2 CL E G H40362143Junctional epidermolysis bullosa inversaORPHA129376694600073
HP:0000407HP:0008610Infantile sensorineural hearing impairment2LRP4 CL E G H40383152Kuster syndromeORPHA110516696604270
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2LRP4 CL E G H40383152Kuster syndromeORPHA110516696604270
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2LRP4 CL E G H40383152Kuster syndromeORPHA110516696604270
HP:0000407HP:0008610Infantile sensorineural hearing impairment2LRP5 CL E G H40413416Mathieu De Broca Bony syndromeORPHA118196697603506
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2LRP5 CL E G H40413416Mathieu De Broca Bony syndromeORPHA118196697603506
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2LRP5 CL E G H40413416Mathieu De Broca Bony syndromeORPHA118196697603506
HP:0000407HP:0008610Infantile sensorineural hearing impairment2LRP5 CL E G H4041144750Worth disease144750C0432273OMIM118196697603506
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2LRP5 CL E G H4041144750Worth disease144750C0432273OMIM118196697603506
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2LRP5 CL E G H4041144750Worth disease144750C0432273OMIM118196697603506
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MAF CL E G H4094601088Ayme-gripp syndrome601088C1832812OMIM13786776177075
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MAF CL E G H4094601088Ayme-gripp syndrome601088C1832812OMIM13786776177075
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MAF CL E G H4094601088Ayme-gripp syndrome601088C1832812OMIM13786776177075
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MAFB CL E G H9935233D ercole syndromeORPHA11536408608968
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MAFB CL E G H9935233D ercole syndromeORPHA11536408608968
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MAFB CL E G H9935233D ercole syndromeORPHA11536408608968
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14456816154235
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14456816154235
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14456816154235
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM14936840176872
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM14936840176872
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM14936840176872
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MAP3K20 CL E G H51776616890Split-foot malformation with mesoaxial polydactyly616890C4225167OMIM136817797609479
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MAP3K20 CL E G H51776616890Split-foot malformation with mesoaxial polydactyly616890C4225167OMIM136817797609479
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MAP3K20 CL E G H51776616890Split-foot malformation with mesoaxial polydactyly616890C4225167OMIM136817797609479
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MAP3K7 CL E G H68851826Dexamethasone sensitive hypertensionORPHA12356859602614
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MAP3K7 CL E G H68851826Dexamethasone sensitive hypertensionORPHA12356859602614
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MAP3K7 CL E G H68851826Dexamethasone sensitive hypertensionORPHA12356859602614
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MBTPS2 CL E G H51360659AmyoplasiaORPHA130915455300294
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MBTPS2 CL E G H51360659AmyoplasiaORPHA130915455300294
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MBTPS2 CL E G H51360659AmyoplasiaORPHA130915455300294
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MED12 CL E G H9968305450FG syndrome305450C0220769OMIM1157311957300188
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MED12 CL E G H9968305450FG syndrome305450C0220769OMIM1157311957300188
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MED12 CL E G H9968305450FG syndrome305450C0220769OMIM1157311957300188
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MEOX1 CL E G H4222214300Klippel-Feil syndrome 2, autosomal recessive214300C1859209OMIM11047013600147
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MEOX1 CL E G H4222214300Klippel-Feil syndrome 2, autosomal recessive214300C1859209OMIM11047013600147
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MEOX1 CL E G H4222214300Klippel-Feil syndrome 2, autosomal recessive214300C1859209OMIM11047013600147
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18157027604705
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18157027604705
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18157027604705
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MIR96 CL E G H407053613074Deafness, autosomal dominant 50613074C3888123OMIM14131648611606
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MIR96 CL E G H407053613074Deafness, autosomal dominant 50613074C3888123OMIM14131648611606
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MIR96 CL E G H407053613074Deafness, autosomal dominant 50613074C3888123OMIM14131648611606
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MITF CL E G H4286895ORPHA15397105156845
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MITF CL E G H4286895ORPHA15397105156845
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MITF CL E G H4286895ORPHA15397105156845
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MITF CL E G H4286103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM15397105156845
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MITF CL E G H4286103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM15397105156845
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MITF CL E G H4286103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM15397105156845
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM147324862601336
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM147324862601336
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM147324862601336
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM16077225159440
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM16077225159440
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM16077225159440
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MT-CO1 CL E G H4512550ORPHA17419516030
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MT-CO1 CL E G H4512550ORPHA17419516030
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MT-CO1 CL E G H4512550ORPHA17419516030
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MT-CO2 CL E G H4513550ORPHA17421516040
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MT-CO2 CL E G H4513550ORPHA17421516040
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MT-CO2 CL E G H4513550ORPHA17421516040
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MT-CO3 CL E G H4514550ORPHA17422516050
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MT-CO3 CL E G H4514550ORPHA17422516050
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MT-CO3 CL E G H4514550ORPHA17422516050
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MT-ND1 CL E G H4535550ORPHA17455516000
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MT-ND1 CL E G H4535550ORPHA17455516000
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MT-ND1 CL E G H4535550ORPHA17455516000
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MT-ND4 CL E G H4538550ORPHA17459516003
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MT-ND4 CL E G H4538550ORPHA17459516003
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MT-ND4 CL E G H4538550ORPHA17459516003
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MT-ND5 CL E G H4540550ORPHA17461516005
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MT-ND5 CL E G H4540550ORPHA17461516005
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MT-ND5 CL E G H4540550ORPHA17461516005
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MT-ND5 CL E G H4540551ORPHA17461516005
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MT-ND5 CL E G H4540551ORPHA17461516005
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MT-ND5 CL E G H4540551ORPHA17461516005
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MT-ND6 CL E G H4541550ORPHA17462516006
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MT-ND6 CL E G H4541550ORPHA17462516006
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MT-ND6 CL E G H4541550ORPHA17462516006
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MT-RNR1 CL E G H4549551ORPHA117470180450
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MT-RNR1 CL E G H4549551ORPHA117470180450
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MT-RNR1 CL E G H4549551ORPHA117470180450
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MT-TE CL E G H4556225Radial ray agenesisORPHA17479590025
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MT-TE CL E G H4556225Radial ray agenesisORPHA17479590025
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MT-TE CL E G H4556225Radial ray agenesisORPHA17479590025
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MT-TF CL E G H4558550ORPHA17481590070
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MT-TF CL E G H4558550ORPHA17481590070
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MT-TF CL E G H4558550ORPHA17481590070
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MT-TF CL E G H4558551ORPHA17481590070
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MT-TF CL E G H4558551ORPHA17481590070
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MT-TF CL E G H4558551ORPHA17481590070
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MT-TH CL E G H4564550ORPHA17487590040
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MT-TH CL E G H4564550ORPHA17487590040
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MT-TH CL E G H4564550ORPHA17487590040
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MT-TH CL E G H4564551ORPHA17487590040
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MT-TH CL E G H4564551ORPHA17487590040
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MT-TH CL E G H4564551ORPHA17487590040
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MT-TK CL E G H4566551ORPHA17489590060
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MT-TK CL E G H4566551ORPHA17489590060
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MT-TK CL E G H4566551ORPHA17489590060
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MT-TK CL E G H4566225Radial ray agenesisORPHA17489590060
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MT-TK CL E G H4566225Radial ray agenesisORPHA17489590060
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MT-TK CL E G H4566225Radial ray agenesisORPHA17489590060
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MT-TL1 CL E G H4567550ORPHA17490590050
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MT-TL1 CL E G H4567550ORPHA17490590050
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MT-TL1 CL E G H4567550ORPHA17490590050
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MT-TL1 CL E G H4567551ORPHA17490590050
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MT-TL1 CL E G H4567551ORPHA17490590050
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MT-TL1 CL E G H4567551ORPHA17490590050
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MT-TL1 CL E G H4567225Radial ray agenesisORPHA17490590050
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MT-TL1 CL E G H4567225Radial ray agenesisORPHA17490590050
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MT-TL1 CL E G H4567225Radial ray agenesisORPHA17490590050
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MT-TP CL E G H4571551ORPHA17494590075
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MT-TP CL E G H4571551ORPHA17494590075
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MT-TP CL E G H4571551ORPHA17494590075
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MT-TQ CL E G H4572550ORPHA17495590030
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MT-TQ CL E G H4572550ORPHA17495590030
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MT-TQ CL E G H4572550ORPHA17495590030
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MT-TQ CL E G H4572551ORPHA17495590030
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MT-TQ CL E G H4572551ORPHA17495590030
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MT-TQ CL E G H4572551ORPHA17495590030
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MT-TS1 CL E G H4574550ORPHA17497590080
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MT-TS1 CL E G H4574550ORPHA17497590080
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MT-TS1 CL E G H4574550ORPHA17497590080
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MT-TS1 CL E G H4574551ORPHA17497590080
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MT-TS1 CL E G H4574551ORPHA17497590080
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MT-TS1 CL E G H4574551ORPHA17497590080
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MT-TS1 CL E G H45742202Exostoses anetodermia brachydactyly type EORPHA17497590080
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MT-TS1 CL E G H45742202Exostoses anetodermia brachydactyly type EORPHA17497590080
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MT-TS1 CL E G H45742202Exostoses anetodermia brachydactyly type EORPHA17497590080
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MT-TS2 CL E G H4575550ORPHA17498590085
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MT-TS2 CL E G H4575550ORPHA17498590085
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MT-TS2 CL E G H4575550ORPHA17498590085
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MT-TS2 CL E G H4575551ORPHA17498590085
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MT-TS2 CL E G H4575551ORPHA17498590085
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MT-TS2 CL E G H4575551ORPHA17498590085
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MT-TS2 CL E G H4575231183ORPHA17498590085
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MT-TS2 CL E G H4575231183ORPHA17498590085
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MT-TS2 CL E G H4575231183ORPHA17498590085
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MT-TW CL E G H4578550ORPHA17501590095
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MT-TW CL E G H4578550ORPHA17501590095
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MT-TW CL E G H4578550ORPHA17501590095
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MYO7A CL E G H4647231169ORPHA135997606276903
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MYO7A CL E G H4647231169ORPHA135997606276903
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MYO7A CL E G H4647231169ORPHA135997606276903
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MYO7A CL E G H4647231178ORPHA135997606276903
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MYO7A CL E G H4647231178ORPHA135997606276903
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MYO7A CL E G H4647231178ORPHA135997606276903
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MYO7A CL E G H4647600060Deafness, autosomal recessive 2600060C1838701OMIM135997606276903
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MYO7A CL E G H4647600060Deafness, autosomal recessive 2600060C1838701OMIM135997606276903
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MYO7A CL E G H4647600060Deafness, autosomal recessive 2600060C1838701OMIM135997606276903
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MYO7A CL E G H4647276900Usher syndrome, type 1276900C1568247OMIM135997606276903
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MYO7A CL E G H4647276900Usher syndrome, type 1276900C1568247OMIM135997606276903
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MYO7A CL E G H4647276900Usher syndrome, type 1276900C1568247OMIM135997606276903
HP:0000407HP:0008610Infantile sensorineural hearing impairment2NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM12307631104170
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM12307631104170
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM12307631104170
HP:0000407HP:0008610Infantile sensorineural hearing impairment2NDP CL E G H4693310600Atrophia bulborum hereditaria310600C0266526OMIM12997678300658
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2NDP CL E G H4693310600Atrophia bulborum hereditaria310600C0266526OMIM12997678300658
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2NDP CL E G H4693310600Atrophia bulborum hereditaria310600C0266526OMIM12997678300658
HP:0000407HP:0008610Infantile sensorineural hearing impairment2NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0000407HP:0008610Infantile sensorineural hearing impairment2NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12167745604043
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12167745604043
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12167745604043
HP:0000407HP:0008610Infantile sensorineural hearing impairment2NEU1 CL E G H4758812ORPHA11857758608272
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2NEU1 CL E G H4758812ORPHA11857758608272
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2NEU1 CL E G H4758812ORPHA11857758608272
HP:0000407HP:0008610Infantile sensorineural hearing impairment2NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0000407HP:0008610Infantile sensorineural hearing impairment2NF2 CL E G H4771637ORPHA117837773607379
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2NF2 CL E G H4771637ORPHA117837773607379
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2NF2 CL E G H4771637ORPHA117837773607379
HP:0000407HP:0008610Infantile sensorineural hearing impairment2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0000407HP:0008610Infantile sensorineural hearing impairment2NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0000407HP:0008610Infantile sensorineural hearing impairment2NLRC4 CL E G H584841451ORPHA164316412606831
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2NLRC4 CL E G H584841451ORPHA164316412606831
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2NLRC4 CL E G H584841451ORPHA164316412606831
HP:0000407HP:0008610Infantile sensorineural hearing impairment2NLRP12 CL E G H91662611762Familial cold autoinflammatory syndrome 2611762C2673198OMIM1103622938609648
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2NLRP12 CL E G H91662611762Familial cold autoinflammatory syndrome 2611762C2673198OMIM1103622938609648
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2NLRP12 CL E G H91662611762Familial cold autoinflammatory syndrome 2611762C2673198OMIM1103622938609648
HP:0000407HP:0008610Infantile sensorineural hearing impairment2NLRP3 CL E G H1145481451ORPHA191716400606416
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2NLRP3 CL E G H1145481451ORPHA191716400606416
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2NLRP3 CL E G H1145481451ORPHA191716400606416
HP:0000407HP:0008610Infantile sensorineural hearing impairment2NOG CL E G H92413250ORPHA11337866602991
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2NOG CL E G H92413250ORPHA11337866602991
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2NOG CL E G H92413250ORPHA11337866602991
HP:0000407HP:0008610Infantile sensorineural hearing impairment2NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16077974604485
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16077974604485
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16077974604485
HP:0000407HP:0008610Infantile sensorineural hearing impairment2NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM12817989164790
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM12817989164790
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM12817989164790
HP:0000407HP:0008610Infantile sensorineural hearing impairment2NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13588002162080
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13588002162080
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13588002162080
HP:0000407HP:0008610Infantile sensorineural hearing impairment2OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110202567300170
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110202567300170
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110202567300170
HP:0000407HP:0008610Infantile sensorineural hearing impairment2OPA1 CL E G H49761215Cerebro reno digital syndromeORPHA112248140605290
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2OPA1 CL E G H49761215Cerebro reno digital syndromeORPHA112248140605290
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2OPA1 CL E G H49761215Cerebro reno digital syndromeORPHA112248140605290
HP:0000407HP:0008610Infantile sensorineural hearing impairment2OPA1 CL E G H4976616896Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)616896C4225163OMIM112248140605290
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2OPA1 CL E G H4976616896Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)616896C4225163OMIM112248140605290
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2OPA1 CL E G H4976616896Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)616896C4225163OMIM112248140605290
HP:0000407HP:0008610Infantile sensorineural hearing impairment2OSBPL2 CL E G H9885616340Deafness, autosomal dominant 67616340C4084712OMIM121315761606731
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2OSBPL2 CL E G H9885616340Deafness, autosomal dominant 67616340C4084712OMIM121315761606731
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2OSBPL2 CL E G H9885616340Deafness, autosomal dominant 67616340C4084712OMIM121315761606731
HP:0000407HP:0008610Infantile sensorineural hearing impairment2OTOA CL E G H146183607039Deafness, autosomal recessive 22607039C1846896OMIM144616378607038
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2OTOA CL E G H146183607039Deafness, autosomal recessive 22607039C1846896OMIM144616378607038
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2OTOA CL E G H146183607039Deafness, autosomal recessive 22607039C1846896OMIM144616378607038
HP:0000407HP:0008610Infantile sensorineural hearing impairment2OTOF CL E G H9381601071Deafness, autosomal recessive 9601071C1832828OMIM111298515603681
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2OTOF CL E G H9381601071Deafness, autosomal recessive 9601071C1832828OMIM111298515603681
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2OTOF CL E G H9381601071Deafness, autosomal recessive 9601071C1832828OMIM111298515603681
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PAX2 CL E G H5076120330Renal coloboma syndrome120330C1852759OMIM14068616167409
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PAX2 CL E G H5076120330Renal coloboma syndrome120330C1852759OMIM14068616167409
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PAX2 CL E G H5076120330Renal coloboma syndrome120330C1852759OMIM14068616167409
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PAX3 CL E G H50771529ORPHA13388617606597
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PAX3 CL E G H50771529ORPHA13388617606597
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PAX3 CL E G H50771529ORPHA13388617606597
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PAX3 CL E G H5077122880Craniofacial deafness hand syndrome122880C1852510OMIM13388617606597
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PAX3 CL E G H5077122880Craniofacial deafness hand syndrome122880C1852510OMIM13388617606597
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PAX3 CL E G H5077122880Craniofacial deafness hand syndrome122880C1852510OMIM13388617606597
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PAX3 CL E G H5077148820Klein-Waardenberg's syndrome148820C0342680OMIM13388617606597
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PAX3 CL E G H5077148820Klein-Waardenberg's syndrome148820C0342680OMIM13388617606597
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PAX3 CL E G H5077148820Klein-Waardenberg's syndrome148820C0342680OMIM13388617606597
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1102234383613425
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1102234383613425
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1102234383613425
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PCDH15 CL E G H65217231169ORPHA1291714674605514
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PCDH15 CL E G H65217231169ORPHA1291714674605514
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PCDH15 CL E G H65217231169ORPHA1291714674605514
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PCDH15 CL E G H65217609533Deafness, autosomal recessive 23609533C1836027OMIM1291714674605514
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PCDH15 CL E G H65217609533Deafness, autosomal recessive 23609533C1836027OMIM1291714674605514
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PCDH15 CL E G H65217609533Deafness, autosomal recessive 23609533C1836027OMIM1291714674605514
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PCNT CL E G H51162637HemimegalencephalyORPHA1200116068605925
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PCNT CL E G H51162637HemimegalencephalyORPHA1200116068605925
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PCNT CL E G H51162637HemimegalencephalyORPHA1200116068605925
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18348785180071
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18348785180071
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18348785180071
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111428786180072
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111428786180072
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111428786180072
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11258789180073
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11258789180073
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11258789180073
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PDGFRB CL E G H5159601812Premature aging syndrome, Penttinen type601812C1866182OMIM15318804173410
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PDGFRB CL E G H5159601812Premature aging syndrome, Penttinen type601812C1866182OMIM15318804173410
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PDGFRB CL E G H5159601812Premature aging syndrome, Penttinen type601812C1866182OMIM15318804173410
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PDZD7 CL E G H79955231178ORPHA192726257612971
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PDZD7 CL E G H79955231178ORPHA192726257612971
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PDZD7 CL E G H79955231178ORPHA192726257612971
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX1 CL E G H5189772ORPHA115378850602136
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX1 CL E G H5189772ORPHA115378850602136
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX1 CL E G H5189772ORPHA115378850602136
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX1 CL E G H5189912ORPHA115378850602136
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX1 CL E G H5189912ORPHA115378850602136
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX1 CL E G H5189912ORPHA115378850602136
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX1 CL E G H51893220ORPHA115378850602136
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX1 CL E G H51893220ORPHA115378850602136
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX1 CL E G H51893220ORPHA115378850602136
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX1 CL E G H5189234580Deafness enamel hypoplasia nail defects234580C1856186OMIM115378850602136
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX1 CL E G H5189234580Deafness enamel hypoplasia nail defects234580C1856186OMIM115378850602136
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX1 CL E G H5189234580Deafness enamel hypoplasia nail defects234580C1856186OMIM115378850602136
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM115378850602136
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM115378850602136
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM115378850602136
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM115378850602136
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM115378850602136
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM115378850602136
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX10 CL E G H5192772ORPHA18038851602859
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX10 CL E G H5192772ORPHA18038851602859
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX10 CL E G H5192772ORPHA18038851602859
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX10 CL E G H5192912ORPHA18038851602859
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX10 CL E G H5192912ORPHA18038851602859
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX10 CL E G H5192912ORPHA18038851602859
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM18038851602859
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM18038851602859
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM18038851602859
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX11B CL E G H8799772ORPHA14158853603867
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX11B CL E G H8799772ORPHA14158853603867
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX11B CL E G H8799772ORPHA14158853603867
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX11B CL E G H8799912ORPHA14158853603867
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX11B CL E G H8799912ORPHA14158853603867
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX11B CL E G H8799912ORPHA14158853603867
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX12 CL E G H5193772ORPHA14598854601758
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX12 CL E G H5193772ORPHA14598854601758
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX12 CL E G H5193772ORPHA14598854601758
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX12 CL E G H5193912ORPHA14598854601758
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX12 CL E G H5193912ORPHA14598854601758
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX12 CL E G H5193912ORPHA14598854601758
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM14598854601758
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM14598854601758
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM14598854601758
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX13 CL E G H5194772ORPHA14978855601789
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX13 CL E G H5194772ORPHA14978855601789
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX13 CL E G H5194772ORPHA14978855601789
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX13 CL E G H5194912ORPHA14978855601789
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX13 CL E G H5194912ORPHA14978855601789
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX13 CL E G H5194912ORPHA14978855601789
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX14 CL E G H5195772ORPHA14748856601791
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX14 CL E G H5195772ORPHA14748856601791
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX14 CL E G H5195772ORPHA14748856601791
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX14 CL E G H5195912ORPHA14748856601791
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX14 CL E G H5195912ORPHA14748856601791
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX14 CL E G H5195912ORPHA14748856601791
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX16 CL E G H9409772ORPHA14708857603360
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX16 CL E G H9409772ORPHA14708857603360
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX16 CL E G H9409772ORPHA14708857603360
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX16 CL E G H9409912ORPHA14708857603360
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX16 CL E G H9409912ORPHA14708857603360
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX16 CL E G H9409912ORPHA14708857603360
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM14708857603360
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM14708857603360
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM14708857603360
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX19 CL E G H5824772ORPHA13799713600279
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX19 CL E G H5824772ORPHA13799713600279
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX19 CL E G H5824772ORPHA13799713600279
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX19 CL E G H5824912ORPHA13799713600279
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX19 CL E G H5824912ORPHA13799713600279
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX19 CL E G H5824912ORPHA13799713600279
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX2 CL E G H5828772ORPHA14639717170993
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX2 CL E G H5828772ORPHA14639717170993
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX2 CL E G H5828772ORPHA14639717170993
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX2 CL E G H5828912ORPHA14639717170993
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX2 CL E G H5828912ORPHA14639717170993
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX2 CL E G H5828912ORPHA14639717170993
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM14639717170993
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM14639717170993
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM14639717170993
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX26 CL E G H55670772ORPHA152222965608666
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX26 CL E G H55670772ORPHA152222965608666
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX26 CL E G H55670772ORPHA152222965608666
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX26 CL E G H55670912ORPHA152222965608666
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX26 CL E G H55670912ORPHA152222965608666
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX26 CL E G H55670912ORPHA152222965608666
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX26 CL E G H55670614873Peroxisome biogenesis disorder 7B614873C3553951OMIM152222965608666
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX26 CL E G H55670614873Peroxisome biogenesis disorder 7B614873C3553951OMIM152222965608666
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX26 CL E G H55670614873Peroxisome biogenesis disorder 7B614873C3553951OMIM152222965608666
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX3 CL E G H8504772ORPHA13588858603164
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX3 CL E G H8504772ORPHA13588858603164
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX3 CL E G H8504772ORPHA13588858603164
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX3 CL E G H8504912ORPHA13588858603164
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX3 CL E G H8504912ORPHA13588858603164
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX3 CL E G H8504912ORPHA13588858603164
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX5 CL E G H5830772ORPHA18589719600414
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX5 CL E G H5830772ORPHA18589719600414
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX5 CL E G H5830772ORPHA18589719600414
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX5 CL E G H5830912ORPHA18589719600414
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX5 CL E G H5830912ORPHA18589719600414
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX5 CL E G H5830912ORPHA18589719600414
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX6 CL E G H5190772ORPHA114588859601498
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX6 CL E G H5190772ORPHA114588859601498
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX6 CL E G H5190772ORPHA114588859601498
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX6 CL E G H5190912ORPHA114588859601498
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX6 CL E G H5190912ORPHA114588859601498
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX6 CL E G H5190912ORPHA114588859601498
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX6 CL E G H51903220ORPHA114588859601498
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX6 CL E G H51903220ORPHA114588859601498
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX6 CL E G H51903220ORPHA114588859601498
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM114588859601498
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM114588859601498
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM114588859601498
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX7 CL E G H5191773ORPHA15508860601757
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX7 CL E G H5191773ORPHA15508860601757
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX7 CL E G H5191773ORPHA15508860601757
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX7 CL E G H5191614879Peroxisome biogenesis disorder 9B614879CN159238OMIM15508860601757
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX7 CL E G H5191614879Peroxisome biogenesis disorder 9B614879CN159238OMIM15508860601757
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX7 CL E G H5191614879Peroxisome biogenesis disorder 9B614879CN159238OMIM15508860601757
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM15508860601757
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM15508860601757
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM15508860601757
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PGM3 CL E G H5238615816Immunodeficiency 23615816C4014371OMIM13598907172100
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PGM3 CL E G H5238615816Immunodeficiency 23615816C4014371OMIM13598907172100
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PGM3 CL E G H5238615816Immunodeficiency 23615816C4014371OMIM13598907172100
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PHYH CL E G H5264773ORPHA13828940602026
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PHYH CL E G H5264773ORPHA13828940602026
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PHYH CL E G H5264773ORPHA13828940602026
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM13828940602026
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM13828940602026
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM13828940602026
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA14578979171833
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA14578979171833
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA14578979171833
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM14578979171833
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM14578979171833
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM14578979171833
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PJVK CL E G H494513610220Deafness, autosomal recessive 59610220C1857744OMIM117229502610219
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PJVK CL E G H494513610220Deafness, autosomal recessive 59610220C1857744OMIM117229502610219
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PJVK CL E G H494513610220Deafness, autosomal recessive 59610220C1857744OMIM117229502610219
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM14929118601097
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM14929118601097
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM14929118601097
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PNPLA6 CL E G H109082377ORPHA1121616268603197
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PNPLA6 CL E G H109082377ORPHA1121616268603197
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PNPLA6 CL E G H109082377ORPHA1121616268603197
HP:0000407HP:0008610Infantile sensorineural hearing impairment2POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM143789175174761
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM143789175174761
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM143789175174761
HP:0000407HP:0008610Infantile sensorineural hearing impairment2POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM123249179174763
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM123249179174763
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM123249179174763
HP:0000407HP:0008610Infantile sensorineural hearing impairment2POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0000407HP:0008610Infantile sensorineural hearing impairment2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0000407HP:0008610Infantile sensorineural hearing impairment2POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM123249179174763
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM123249179174763
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM123249179174763
HP:0000407HP:0008610Infantile sensorineural hearing impairment2POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1117419139606822
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1117419139606822
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1117419139606822
HP:0000407HP:0008610Infantile sensorineural hearing impairment2POU3F4 CL E G H54561435Coloboma of lens ala nasiORPHA12599217300039
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2POU3F4 CL E G H54561435Coloboma of lens ala nasiORPHA12599217300039
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2POU3F4 CL E G H54561435Coloboma of lens ala nasiORPHA12599217300039
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA114432528610598
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA114432528610598
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA114432528610598
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PRDM5 CL E G H1110790354ORPHA14449349614161
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PRDM5 CL E G H1110790354ORPHA14449349614161
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PRDM5 CL E G H1110790354ORPHA14449349614161
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19289454604365
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19289454604365
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19289454604365
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA132517348607301
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA132517348607301
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA132517348607301
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA162915446606419
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA162915446606419
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA162915446606419
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA130517349607795
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA130517349607795
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA130517349607795
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158115860613979
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158115860613979
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158115860613979
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1124017340607300
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1124017340607300
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1124017340607300
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17029942179605
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17029942179605
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17029942179605
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PRPS1 CL E G H5631311070Charcot-Marie-Tooth disease, X-linked recessive, type 5311070C1839566OMIM14159462311850
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PRPS1 CL E G H5631311070Charcot-Marie-Tooth disease, X-linked recessive, type 5311070C1839566OMIM14159462311850
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PRPS1 CL E G H5631311070Charcot-Marie-Tooth disease, X-linked recessive, type 5311070C1839566OMIM14159462311850
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PRPS1 CL E G H5631304500Deafness, X-linked 1304500C1844677OMIM14159462311850
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PRPS1 CL E G H5631304500Deafness, X-linked 1304500C1844677OMIM14159462311850
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PRPS1 CL E G H5631304500Deafness, X-linked 1304500C1844677OMIM14159462311850
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM14159462311850
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM14159462311850
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM14159462311850
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM11909587612792
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM11909587612792
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM11909587612792
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM18549644176876
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM18549644176876
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM18549644176876
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM18549644176876
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM18549644176876
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM18549644176876
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PTPN22 CL E G H261913437ORPHA1639652600716
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PTPN22 CL E G H261913437ORPHA1639652600716
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PTPN22 CL E G H261913437ORPHA1639652600716
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM14924265608625
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM14924265608625
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM14924265608625
HP:0000407HP:0008610Infantile sensorineural hearing impairment2RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM122514263606144
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM122514263606144
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM122514263606144
HP:0000407HP:0008610Infantile sensorineural hearing impairment2RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM11129801602048
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM11129801602048
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM11129801602048
HP:0000407HP:0008610Infantile sensorineural hearing impairment2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0000407HP:0008610Infantile sensorineural hearing impairment2RAP1A CL E G H59062322ORPHA1419855179520
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2RAP1A CL E G H59062322ORPHA1419855179520
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2RAP1A CL E G H59062322ORPHA1419855179520
HP:0000407HP:0008610Infantile sensorineural hearing impairment2RAP1B CL E G H59082322ORPHA1359857179530
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2RAP1B CL E G H59082322ORPHA1359857179530
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2RAP1B CL E G H59082322ORPHA1359857179530
HP:0000407HP:0008610Infantile sensorineural hearing impairment2RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110389921180290
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110389921180290
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110389921180290
HP:0000407HP:0008610Infantile sensorineural hearing impairment2RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149519977608830
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149519977608830
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149519977608830
HP:0000407HP:0008610Infantile sensorineural hearing impairment2REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA126630078609346
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA126630078609346
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA126630078609346
HP:0000407HP:0008610Infantile sensorineural hearing impairment2RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0000407HP:0008610Infantile sensorineural hearing impairment2RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0000407HP:0008610Infantile sensorineural hearing impairment2RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12799990600342
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12799990600342
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12799990600342
HP:0000407HP:0008610Infantile sensorineural hearing impairment2RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153710012180380
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153710012180380
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153710012180380
HP:0000407HP:0008610Infantile sensorineural hearing impairment2RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131410024180090
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131410024180090
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131410024180090
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131110254180721
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131110254180721
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131110254180721
HP:0000407HP:0008610Infantile sensorineural hearing impairment2RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1131810263603937
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1131810263603937
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1131810263603937
HP:0000407HP:0008610Infantile sensorineural hearing impairment2RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA148410274300757
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA148410274300757
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA148410274300757
HP:0000407HP:0008610Infantile sensorineural hearing impairment2RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA113210288607331
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA113210288607331
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA113210288607331
HP:0000407HP:0008610Infantile sensorineural hearing impairment2RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178310294180069
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178310294180069
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178310294180069
HP:0000407HP:0008610Infantile sensorineural hearing impairment2RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1143310295312610
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1143310295312610
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1143310295312610
HP:0000407HP:0008610Infantile sensorineural hearing impairment2RPL10 CL E G H6134435938ORPHA128110298312173
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2RPL10 CL E G H6134435938ORPHA128110298312173
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2RPL10 CL E G H6134435938ORPHA128110298312173
HP:0000407HP:0008610Infantile sensorineural hearing impairment2RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM151510432300075
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM151510432300075
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM151510432300075
HP:0000407HP:0008610Infantile sensorineural hearing impairment2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0000407HP:0008610Infantile sensorineural hearing impairment2S1PR2 CL E G H9294610419Deafness, autosomal recessive 68610419C1835854OMIM1943169605111
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2S1PR2 CL E G H9294610419Deafness, autosomal recessive 68610419C1835854OMIM1943169605111
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2S1PR2 CL E G H9294610419Deafness, autosomal recessive 68610419C1835854OMIM1943169605111
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143010521181031
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143010521181031
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143010521181031
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SALL4 CL E G H57167959ORPHA130115924607343
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SALL4 CL E G H57167959ORPHA130115924607343
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SALL4 CL E G H57167959ORPHA130115924607343
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SALL4 CL E G H57167607323Duane-radial ray syndrome607323C1623209OMIM130115924607343
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SALL4 CL E G H57167607323Duane-radial ray syndrome607323C1623209OMIM130115924607343
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SALL4 CL E G H57167607323Duane-radial ray syndrome607323C1623209OMIM130115924607343
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM114562135607697
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM114562135607697
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM114562135607697
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA115713081611611
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA115713081611611
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA115713081611611
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153010729607292
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153010729607292
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153010729607292
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SIX1 CL E G H649552429ORPHA119510887601205
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SIX1 CL E G H649552429ORPHA119510887601205
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SIX1 CL E G H649552429ORPHA119510887601205
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SIX1 CL E G H6495608389Branchiootic syndrome 3608389C1842124OMIM119510887601205
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SIX1 CL E G H6495608389Branchiootic syndrome 3608389C1842124OMIM119510887601205
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SIX1 CL E G H6495608389Branchiootic syndrome 3608389C1842124OMIM119510887601205
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SIX1 CL E G H6495605192Deafness, autosomal dominant 23605192C1854594OMIM119510887601205
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SIX1 CL E G H6495605192Deafness, autosomal dominant 23605192C1854594OMIM119510887601205
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SIX1 CL E G H6495605192Deafness, autosomal dominant 23605192C1854594OMIM119510887601205
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM112810892606326
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM112810892606326
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM112810892606326
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SLC17A8 CL E G H246213605583Deafness, autosomal dominant 25605583C1854158OMIM126120151607557
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SLC17A8 CL E G H246213605583Deafness, autosomal dominant 25605583C1854158OMIM126120151607557
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SLC17A8 CL E G H246213605583Deafness, autosomal dominant 25605583C1854158OMIM126120151607557
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SLC19A2 CL E G H1056049827ORPHA124610938603941
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SLC19A2 CL E G H1056049827ORPHA124610938603941
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SLC19A2 CL E G H1056049827ORPHA124610938603941
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM124610938603941
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM124610938603941
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM124610938603941
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SLC26A4 CL E G H5172705ORPHA112228818605646
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SLC26A4 CL E G H5172705ORPHA112228818605646
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SLC26A4 CL E G H5172705ORPHA112228818605646
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SLC26A4 CL E G H5172600791Enlarged vestibular aqueduct600791C1863752OMIM112228818605646
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SLC26A4 CL E G H5172600791Enlarged vestibular aqueduct600791C1863752OMIM112228818605646
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SLC26A4 CL E G H5172600791Enlarged vestibular aqueduct600791C1863752OMIM112228818605646
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SLC26A5 CL E G H375611613865Deafness, autosomal recessive 61613865C3151230OMIM12209359604943
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SLC26A5 CL E G H375611613865Deafness, autosomal recessive 61613865C3151230OMIM12209359604943
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SLC26A5 CL E G H375611613865Deafness, autosomal recessive 61613865C3151230OMIM12209359604943
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM144723096612373
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM144723096612373
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM144723096612373
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SLC39A14 CL E G H23516144755Hyperostosis cranialis interna144755C1840404OMIM127020858608736
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SLC39A14 CL E G H23516144755Hyperostosis cranialis interna144755C1840404OMIM127020858608736
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SLC39A14 CL E G H23516144755Hyperostosis cranialis interna144755C1840404OMIM127020858608736
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SLC44A4 CL E G H80736617606DEAFNESS, AUTOSOMAL DOMINANT 72617606C4539886OMIM117013941606107
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SLC44A4 CL E G H80736617606DEAFNESS, AUTOSOMAL DOMINANT 72617606C4539886OMIM117013941606107
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SLC44A4 CL E G H80736617606DEAFNESS, AUTOSOMAL DOMINANT 72617606C4539886OMIM117013941606107
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SLC4A11 CL E G H839591490Congenital ichtyosiform erythrodermaORPHA180916438610206
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SLC4A11 CL E G H839591490Congenital ichtyosiform erythrodermaORPHA180916438610206
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SLC4A11 CL E G H839591490Congenital ichtyosiform erythrodermaORPHA180916438610206
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SLC4A11 CL E G H83959217400Corneal dystrophy and perceptive deafness217400C1857572OMIM180916438610206
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SLC4A11 CL E G H83959217400Corneal dystrophy and perceptive deafness217400C1857572OMIM180916438610206
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SLC4A11 CL E G H83959217400Corneal dystrophy and perceptive deafness217400C1857572OMIM180916438610206
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM152030224607882
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM152030224607882
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM152030224607882
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA146129326615720
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA146129326615720
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA146129326615720
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SMCHD1 CL E G H23347269ORPHA1134129090614982
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SMCHD1 CL E G H23347269ORPHA1134129090614982
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SMCHD1 CL E G H23347269ORPHA1134129090614982
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SMPX CL E G H23676300066Deafness, X-linked 4300066C1848204OMIM121711122300226
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SMPX CL E G H23676300066Deafness, X-linked 4300066C1848204OMIM121711122300226
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SMPX CL E G H23676300066Deafness, X-linked 4300066C1848204OMIM121711122300226
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SNAI2 CL E G H6591895ORPHA110111094602150
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SNAI2 CL E G H6591895ORPHA110111094602150
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SNAI2 CL E G H6591895ORPHA110111094602150
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1107330859601664
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1107330859601664
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1107330859601664
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SOST CL E G H509643152Kuster syndromeORPHA19913771605740
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SOST CL E G H509643152Kuster syndromeORPHA19913771605740
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SOST CL E G H509643152Kuster syndromeORPHA19913771605740
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SOST CL E G H509643416Mathieu De Broca Bony syndromeORPHA19913771605740
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SOST CL E G H509643416Mathieu De Broca Bony syndromeORPHA19913771605740
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SOST CL E G H509643416Mathieu De Broca Bony syndromeORPHA19913771605740
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SOX10 CL E G H6663895ORPHA137811190602229
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SOX10 CL E G H6663895ORPHA137811190602229
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SOX10 CL E G H6663895ORPHA137811190602229
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SOX10 CL E G H6663163746ORPHA137811190602229
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SOX10 CL E G H6663163746ORPHA137811190602229
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SOX10 CL E G H6663163746ORPHA137811190602229
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SOX10 CL E G H6663613266Waardenburg syndrome type 4C613266C2750452OMIM137811190602229
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SOX10 CL E G H6663613266Waardenburg syndrome type 4C613266C2750452OMIM137811190602229
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SOX10 CL E G H6663613266Waardenburg syndrome type 4C613266C2750452OMIM137811190602229
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM121111195184429
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM121111195184429
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM121111195184429
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143220423609868
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143220423609868
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143220423609868
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SPTLC1 CL E G H10558162400Neuropathy hereditary sensory and autonomic type 1162400C0020071OMIM139111277605712
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SPTLC1 CL E G H10558162400Neuropathy hereditary sensory and autonomic type 1162400C0020071OMIM139111277605712
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SPTLC1 CL E G H10558162400Neuropathy hereditary sensory and autonomic type 1162400C0020071OMIM139111277605712
HP:0000407HP:0008610Infantile sensorineural hearing impairment2STRC CL E G H16149794064ORPHA130416035606440
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2STRC CL E G H16149794064ORPHA130416035606440
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2STRC CL E G H16149794064ORPHA130416035606440
HP:0000407HP:0008610Infantile sensorineural hearing impairment2STRC CL E G H161497603720Deafness, autosomal recessive 16603720C1863561OMIM130416035606440
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2STRC CL E G H161497603720Deafness, autosomal recessive 16603720C1863561OMIM130416035606440
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2STRC CL E G H161497603720Deafness, autosomal recessive 16603720C1863561OMIM130416035606440
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SUCLA2 CL E G H88031933ORPHA141311448603921
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SUCLA2 CL E G H88031933ORPHA141311448603921
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SUCLA2 CL E G H88031933ORPHA141311448603921
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SUMF1 CL E G H285362585ORPHA174620376607939
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SUMF1 CL E G H285362585ORPHA174620376607939
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SUMF1 CL E G H285362585ORPHA174620376607939
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM189329203613577
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM189329203613577
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM189329203613577
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TBX22 CL E G H50945921Bone dysplasia corpus callosum agenesisORPHA122811600300307
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TBX22 CL E G H50945921Bone dysplasia corpus callosum agenesisORPHA122811600300307
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TBX22 CL E G H50945921Bone dysplasia corpus callosum agenesisORPHA122811600300307
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TECTA CL E G H7007601543Deafness, autosomal dominant 12601543C1832187OMIM192911720602574
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TECTA CL E G H7007601543Deafness, autosomal dominant 12601543C1832187OMIM192911720602574
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TECTA CL E G H7007601543Deafness, autosomal dominant 12601543C1832187OMIM192911720602574
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TECTA CL E G H7007603629Deafness, autosomal recessive 21603629C1863655OMIM192911720602574
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TECTA CL E G H7007603629Deafness, autosomal recessive 21603629C1863655OMIM192911720602574
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TECTA CL E G H7007603629Deafness, autosomal recessive 21603629C1863655OMIM192911720602574
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM121111742107580
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM121111742107580
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM121111742107580
HP:0000407HP:0008610Infantile sensorineural hearing impairment2THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TMC1 CL E G H117531606705Deafness, autosomal dominant 36606705C1847626OMIM146616513606706
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TMC1 CL E G H117531606705Deafness, autosomal dominant 36606705C1847626OMIM146616513606706
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TMC1 CL E G H117531606705Deafness, autosomal dominant 36606705C1847626OMIM146616513606706
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TMC1 CL E G H117531600974Deafness, autosomal recessive 7600974C1832978OMIM146616513606706
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TMC1 CL E G H117531600974Deafness, autosomal recessive 7600974C1832978OMIM146616513606706
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TMC1 CL E G H117531600974Deafness, autosomal recessive 7600974C1832978OMIM146616513606706
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TMPRSS3 CL E G H64699601072Deafness, autosomal recessive 8601072C1832827OMIM142511877605511
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TMPRSS3 CL E G H64699601072Deafness, autosomal recessive 8601072C1832827OMIM142511877605511
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TMPRSS3 CL E G H64699601072Deafness, autosomal recessive 8601072C1832827OMIM142511877605511
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TNFRSF11B CL E G H4982239000Hyperphosphatasemia with bone disease239000C0268414OMIM120811909602643
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TNFRSF11B CL E G H4982239000Hyperphosphatasemia with bone disease239000C0268414OMIM120811909602643
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TNFRSF11B CL E G H4982239000Hyperphosphatasemia with bone disease239000C0268414OMIM120811909602643
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158321653609507
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158321653609507
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158321653609507
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TPRN CL E G H286262613307Deafness, autosomal recessive 79613307C2750082OMIM132626894613354
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TPRN CL E G H286262613307Deafness, autosomal recessive 79613307C2750082OMIM132626894613354
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TPRN CL E G H286262613307Deafness, autosomal recessive 79613307C2750082OMIM132626894613354
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TRPV3 CL E G H162514659AmyoplasiaORPHA139718084607066
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TRPV3 CL E G H162514659AmyoplasiaORPHA139718084607066
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TRPV3 CL E G H162514659AmyoplasiaORPHA139718084607066
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TRPV4 CL E G H59341606071Charcot-Marie-Tooth disease type 2C606071C2079540OMIM1101818083605427
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TRPV4 CL E G H59341606071Charcot-Marie-Tooth disease type 2C606071C2079540OMIM1101818083605427
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TRPV4 CL E G H59341606071Charcot-Marie-Tooth disease type 2C606071C2079540OMIM1101818083605427
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TSPEAR CL E G H54084614861Deafness, autosomal recessive 98614861C3553932OMIM17661268612920
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TSPEAR CL E G H54084614861Deafness, autosomal recessive 98614861C3553932OMIM17661268612920
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TSPEAR CL E G H54084614861Deafness, autosomal recessive 98614861C3553932OMIM17661268612920
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA142720087608132
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA142720087608132
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA142720087608132
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147712406601197
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147712406601197
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147712406601197
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158712423602280
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158712423602280
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158712423602280
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM14501160606075
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM14501160606075
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM14501160606075
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TYR CL E G H7299103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM151712442606933
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TYR CL E G H7299103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM151712442606933
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TYR CL E G H7299103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM151712442606933
HP:0000407HP:0008610Infantile sensorineural hearing impairment2UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA135016808605981
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA135016808605981
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA135016808605981
HP:0000407HP:0008610Infantile sensorineural hearing impairment2UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0000407HP:0008610Infantile sensorineural hearing impairment2USH1C CL E G H10083231169ORPHA1114612597605242
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2USH1C CL E G H10083231169ORPHA1114612597605242
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2USH1C CL E G H10083231169ORPHA1114612597605242
HP:0000407HP:0008610Infantile sensorineural hearing impairment2USH1C CL E G H10083602092Deafness, autosomal recessive 18602092C1865870OMIM1114612597605242
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2USH1C CL E G H10083602092Deafness, autosomal recessive 18602092C1865870OMIM1114612597605242
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2USH1C CL E G H10083602092Deafness, autosomal recessive 18602092C1865870OMIM1114612597605242
HP:0000407HP:0008610Infantile sensorineural hearing impairment2USH1C CL E G H10083276900Usher syndrome, type 1276900C1568247OMIM1114612597605242
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2USH1C CL E G H10083276900Usher syndrome, type 1276900C1568247OMIM1114612597605242
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2USH1C CL E G H10083276900Usher syndrome, type 1276900C1568247OMIM1114612597605242
HP:0000407HP:0008610Infantile sensorineural hearing impairment2USH1G CL E G H124590231169ORPHA142016356607696
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2USH1G CL E G H124590231169ORPHA142016356607696
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2USH1G CL E G H124590231169ORPHA142016356607696
HP:0000407HP:0008610Infantile sensorineural hearing impairment2USH1G CL E G H124590606943Usher syndrome, type 1G606943C1847089OMIM142016356607696
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2USH1G CL E G H124590606943Usher syndrome, type 1G606943C1847089OMIM142016356607696
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2USH1G CL E G H124590606943Usher syndrome, type 1G606943C1847089OMIM142016356607696
HP:0000407HP:0008610Infantile sensorineural hearing impairment2USH2A CL E G H7399231178ORPHA1704012601608400
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2USH2A CL E G H7399231178ORPHA1704012601608400
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2USH2A CL E G H7399231178ORPHA1704012601608400
HP:0000407HP:0008610Infantile sensorineural hearing impairment2USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1704012601608400
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1704012601608400
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1704012601608400
HP:0000407HP:0008610Infantile sensorineural hearing impairment2VHL CL E G H7428892Billet Bear syndromeORPHA1180512687608537
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2VHL CL E G H7428892Billet Bear syndromeORPHA1180512687608537
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2VHL CL E G H7428892Billet Bear syndromeORPHA1180512687608537
HP:0000407HP:0008610Infantile sensorineural hearing impairment2VHL CL E G H7428193300Von Hippel-Lindau syndrome193300C0019562OMIM1180512687608537
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2VHL CL E G H7428193300Von Hippel-Lindau syndrome193300C0019562OMIM1180512687608537
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2VHL CL E G H7428193300Von Hippel-Lindau syndrome193300C0019562OMIM1180512687608537
HP:0000407HP:0008610Infantile sensorineural hearing impairment2VPS11 CL E G H55823466934ORPHA122814583608549
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2VPS11 CL E G H55823466934ORPHA122814583608549
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2VPS11 CL E G H55823466934ORPHA122814583608549
HP:0000407HP:0008610Infantile sensorineural hearing impairment2WFS1 CL E G H74663463ORPHA1163412762606201
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2WFS1 CL E G H74663463ORPHA1163412762606201
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2WFS1 CL E G H74663463ORPHA1163412762606201
HP:0000407HP:0008610Infantile sensorineural hearing impairment2WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1163412762606201
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1163412762606201
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1163412762606201
HP:0000407HP:0008610Infantile sensorineural hearing impairment2WHRN CL E G H25861231178ORPHA184816361607928
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2WHRN CL E G H25861231178ORPHA184816361607928
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2WHRN CL E G H25861231178ORPHA184816361607928
HP:0000407HP:0008610Infantile sensorineural hearing impairment2WHRN CL E G H25861607084Deafness, autosomal recessive 31607084C1846839OMIM184816361607928
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2WHRN CL E G H25861607084Deafness, autosomal recessive 31607084C1846839OMIM184816361607928
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2WHRN CL E G H25861607084Deafness, autosomal recessive 31607084C1846839OMIM184816361607928
HP:0000407HP:0008610Infantile sensorineural hearing impairment2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA132112814611153
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA132112814611153
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA132112814611153
HP:0000407HP:0008610Infantile sensorineural hearing impairment2XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0000407HP:0008610Infantile sensorineural hearing impairment2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA178812816613208
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA178812816613208
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA178812816613208
HP:0000407HP:0008610Infantile sensorineural hearing impairment2XYLT2 CL E G H64132605822Spondyloocular syndrome, autosomal recessive605822C1853925OMIM132715517608125
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2XYLT2 CL E G H64132605822Spondyloocular syndrome, autosomal recessive605822C1853925OMIM132715517608125
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2XYLT2 CL E G H64132605822Spondyloocular syndrome, autosomal recessive605822C1853925OMIM132715517608125
HP:0000407HP:0008610Infantile sensorineural hearing impairment2YAP1 CL E G H104131473Congenital articular rigidityORPHA18216262606608
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2YAP1 CL E G H104131473Congenital articular rigidityORPHA18216262606608
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2YAP1 CL E G H104131473Congenital articular rigidityORPHA18216262606608
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA120912877606480
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA120912877606480
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA120912877606480
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149420041616454
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149420041616454
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149420041616454
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ZNF469 CL E G H8462790354ORPHA1316323216612078
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ZNF469 CL E G H8462790354ORPHA1316323216612078
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ZNF469 CL E G H8462790354ORPHA1316323216612078
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137626498613598
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137626498613598
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137626498613598
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000407HP:0000407Sensorineural hearing impairment0A2ML1 CL E G H144568648ORPHA0140323336610627
HP:0000407HP:0000407Sensorineural hearing impairment0AAAS CL E G H8086869ORPHA021713666605378
HP:0000407HP:0000407Sensorineural hearing impairment0ABCC9 CL E G H10060154Sandhaus Ben-Ami syndromeORPHA0150760601439
HP:0000407HP:0000407Sensorineural hearing impairment0ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM0681118100850
HP:0000407HP:0000407Sensorineural hearing impairment0ACTC1 CL E G H70154Sandhaus Ben-Ami syndromeORPHA0672143102540
HP:0000407HP:0000407Sensorineural hearing impairment0ACTN2 CL E G H88154Sandhaus Ben-Ami syndromeORPHA01361164102573
HP:0000407HP:0000407Sensorineural hearing impairment0ACY1 CL E G H95137754ORPHA0153177104620
HP:0000407HP:0000407Sensorineural hearing impairment0ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM0137257102750
HP:0000407HP:0000407Sensorineural hearing impairment0AGRN CL E G H37579098914ORPHA02176329103320
HP:0000407HP:0000407Sensorineural hearing impairment0AIFM1 CL E G H9131310490Cowchock syndrome310490C0795910OMIM05758768300169
HP:0000407HP:0000407Sensorineural hearing impairment0ALDH18A1 CL E G H5832447753ORPHA05869722138250
HP:0000407HP:0000407Sensorineural hearing impairment0ALG11 CL E G H440138613661Congenital disorder of glycosylation type 1P613661C3150913OMIM024432456613666
HP:0000407HP:0000407Sensorineural hearing impairment0ANKH CL E G H561721522ORPHA050815492605145
HP:0000407HP:0000407Sensorineural hearing impairment0ANKRD1 CL E G H27063154Sandhaus Ben-Ami syndromeORPHA044215819609599
HP:0000407HP:0000407Sensorineural hearing impairment0ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA04706211300836
HP:0000407HP:0000407Sensorineural hearing impairment0ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA019416876606036
HP:0000407HP:0000407Sensorineural hearing impairment0ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA043738100790
HP:0000407HP:0000407Sensorineural hearing impairment0ATP1A2 CL E G H477569ORPHA01117800182340
HP:0000407HP:0000407Sensorineural hearing impairment0ATP6V1B2 CL E G H5263473MeningoencephaloceleORPHA0167854606939
HP:0000407HP:0000407Sensorineural hearing impairment0ATRX CL E G H546847ORPHA01925886300032
HP:0000407HP:0000407Sensorineural hearing impairment0BAG3 CL E G H9531154Sandhaus Ben-Ami syndromeORPHA0986939603883
HP:0000407HP:0000407Sensorineural hearing impairment0BCOR CL E G H548802712HMG CoA synthetase deficiencyCN072869ORPHA068820893300485
HP:0000407HP:0000407Sensorineural hearing impairment0BCR CL E G H613261330ORPHA02771014151410
HP:0000407HP:0000407Sensorineural hearing impairment0BEAN1 CL E G H146227117210Spinocerebellar ataxia 31117210C1861736OMIM05624160612051
HP:0000407HP:0000407Sensorineural hearing impairment0BMP4 CL E G H652139471ORPHA01971071112262
HP:0000407HP:0000407Sensorineural hearing impairment0BRAF CL E G H673648ORPHA011821097164757
HP:0000407HP:0000407Sensorineural hearing impairment0BTRC CL E G H89452440ORPHA01031144603482
HP:0000407HP:0000407Sensorineural hearing impairment0CACNA1A CL E G H773569ORPHA032481388601011
HP:0000407HP:0000407Sensorineural hearing impairment0CASK CL E G H8573300422FG syndrome 4300422CN033933OMIM08441497300172
HP:0000407HP:0000407Sensorineural hearing impairment0CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM08441497300172
HP:0000407HP:0000407Sensorineural hearing impairment0CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA028126821616031
HP:0000407HP:0000407Sensorineural hearing impairment0CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM0881736116952
HP:0000407HP:0000407Sensorineural hearing impairment0CDK5RAP2 CL E G H55755604804Primary autosomal recessive microcephaly 3604804C1858108OMIM071218672608201
HP:0000407HP:0000407Sensorineural hearing impairment0CHAT CL E G H110398914ORPHA09841912118490
HP:0000407HP:0000407Sensorineural hearing impairment0CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM029715559615903
HP:0000407HP:0000407Sensorineural hearing impairment0CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0293020626608892
HP:0000407HP:0000407Sensorineural hearing impairment0COL13A1 CL E G H130598914ORPHA05592190120350
HP:0000407HP:0000407Sensorineural hearing impairment0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM02062309605032
HP:0000407HP:0000407Sensorineural hearing impairment0CRKL CL E G H1399261330ORPHA04342363602007
HP:0000407HP:0000407Sensorineural hearing impairment0CRYAB CL E G H1410154Sandhaus Ben-Ami syndromeORPHA02732389123590
HP:0000407HP:0000407Sensorineural hearing impairment0CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM0107426193611654
HP:0000407HP:0000407Sensorineural hearing impairment0CSRP3 CL E G H8048154Sandhaus Ben-Ami syndromeORPHA04072472600824
HP:0000407HP:0000407Sensorineural hearing impairment0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM03522494602618
HP:0000407HP:0000407Sensorineural hearing impairment0CTLA4 CL E G H1493900ORPHA02322505123890
HP:0000407HP:0000407Sensorineural hearing impairment0CYP7B1 CL E G H9420100986ORPHA04152652603711
HP:0000407HP:0000407Sensorineural hearing impairment0CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM04152652603711
HP:0000407HP:0000407Sensorineural hearing impairment0DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA02592701120470
HP:0000407HP:0000407Sensorineural hearing impairment0DES CL E G H1674154Sandhaus Ben-Ami syndromeORPHA09762770125660
HP:0000407HP:0000407Sensorineural hearing impairment0DHCR7 CL E G H1717818ORPHA07792860602858
HP:0000407HP:0000407Sensorineural hearing impairment0DLX5 CL E G H17492440ORPHA0582918600028
HP:0000407HP:0000407Sensorineural hearing impairment0DLX6 CL E G H17502440ORPHA0742919600030
HP:0000407HP:0000407Sensorineural hearing impairment0DMD CL E G H1756154Sandhaus Ben-Ami syndromeORPHA081842928300377
HP:0000407HP:0000407Sensorineural hearing impairment0DNASE1L3 CL E G H177636412ORPHA02002959602244
HP:0000407HP:0000407Sensorineural hearing impairment0DOLK CL E G H22845154Sandhaus Ben-Ami syndromeORPHA052123406610746
HP:0000407HP:0000407Sensorineural hearing impairment0DSG2 CL E G H1829154Sandhaus Ben-Ami syndromeORPHA015703049125671
HP:0000407HP:0000407Sensorineural hearing impairment0DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA0663072602748
HP:0000407HP:0000407Sensorineural hearing impairment0DVL1 CL E G H1855616331Robinow syndrome, autosomal dominant 2616331C4225363OMIM06663084601365
HP:0000407HP:0000407Sensorineural hearing impairment0EBP CL E G H1068235173ORPHA03173133300205
HP:0000407HP:0000407Sensorineural hearing impairment0ECE1 CL E G H1889388Hirschsprung diseaseC0019569ORPHA0753146600423
HP:0000407HP:0000407Sensorineural hearing impairment0EDC3 CL E G H80153616460Mental retardation, autosomal recessive 50616460C4225319OMIM06726114609842
HP:0000407HP:0000407Sensorineural hearing impairment0EDN3 CL E G H1908388Hirschsprung diseaseC0019569ORPHA01703178131242
HP:0000407HP:0000407Sensorineural hearing impairment0EDNRB CL E G H1910388Hirschsprung diseaseC0019569ORPHA03163180131244
HP:0000407HP:0000407Sensorineural hearing impairment0ELMO2 CL E G H639163019Intracranial aneurysms multiple congenital anomalyORPHA05717233606421
HP:0000407HP:0000407Sensorineural hearing impairment0EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA0164029331615068
HP:0000407HP:0000407Sensorineural hearing impairment0EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM0164029331615068
HP:0000407HP:0000407Sensorineural hearing impairment0EPS15L1 CL E G H585132440ORPHA04524634616826
HP:0000407HP:0000407Sensorineural hearing impairment0FBN1 CL E G H22002833ORPHA066193603134797
HP:0000407HP:0000407Sensorineural hearing impairment0FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA010922788613301
HP:0000407HP:0000407Sensorineural hearing impairment0FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA01193673603725
HP:0000407HP:0000407Sensorineural hearing impairment0FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA0983686600483
HP:0000407HP:0000407Sensorineural hearing impairment0FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA09363688136350
HP:0000407HP:0000407Sensorineural hearing impairment0FGFR1 CL E G H22603157Lachiewicz Sibley syndromeORPHA09363688136350
HP:0000407HP:0000407Sensorineural hearing impairment0FGFR2 CL E G H226387ORPHA06853689176943
HP:0000407HP:0000407Sensorineural hearing impairment0FGFR2 CL E G H2263794ORPHA06853689176943
HP:0000407HP:0000407Sensorineural hearing impairment0FGFR3 CL E G H2261794ORPHA09163690134934
HP:0000407HP:0000407Sensorineural hearing impairment0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM03963693605830
HP:0000407HP:0000407Sensorineural hearing impairment0FHL2 CL E G H2274154Sandhaus Ben-Ami syndromeORPHA02003703602633
HP:0000407HP:0000407Sensorineural hearing impairment0FIBP CL E G H9158617107Thauvin-Robinet-Faivre syndrome617107C4310715OMIM0613705608296
HP:0000407HP:0000407Sensorineural hearing impairment0FKTN CL E G H2218154Sandhaus Ben-Ami syndromeORPHA09143622607440
HP:0000407HP:0000407Sensorineural hearing impairment0FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA0773762604808
HP:0000407HP:0000407Sensorineural hearing impairment0FOXE3 CL E G H230188632ORPHA03443808601094
HP:0000407HP:0000407Sensorineural hearing impairment0GABRD CL E G H25631606ORPHA04744084137163
HP:0000407HP:0000407Sensorineural hearing impairment0GATA3 CL E G H2625146255Barakat syndrome146255C1840333OMIM03394172131320
HP:0000407HP:0000407Sensorineural hearing impairment0GATAD1 CL E G H57798154Sandhaus Ben-Ami syndromeORPHA061829941614518
HP:0000407HP:0000407Sensorineural hearing impairment0GBA2 CL E G H57704352641ORPHA035518986609471
HP:0000407HP:0000407Sensorineural hearing impairment0GDNF CL E G H2668388Hirschsprung diseaseC0019569ORPHA01374232600837
HP:0000407HP:0000407Sensorineural hearing impairment0GJA1 CL E G H26971522ORPHA02724274121014
HP:0000407HP:0000407Sensorineural hearing impairment0GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM08604283304040
HP:0000407HP:0000407Sensorineural hearing impairment0GLA CL E G H2717324Slti Salem syndromeORPHA010994296300644
HP:0000407HP:0000407Sensorineural hearing impairment0GLI3 CL E G H273736Chromosome 3 duplication syndromeC2931333ORPHA09814319165240
HP:0000407HP:0000407Sensorineural hearing impairment0GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM068628510610192
HP:0000407HP:0000407Sensorineural hearing impairment0GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM016624247610516
HP:0000407HP:0000407Sensorineural hearing impairment0GMPPA CL E G H29926869ORPHA015022923615495
HP:0000407HP:0000407Sensorineural hearing impairment0GNAS CL E G H277879443ORPHA06444392139320
HP:0000407HP:0000407Sensorineural hearing impairment0HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM022721033610876
HP:0000407HP:0000407Sensorineural hearing impairment0HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA01124877601802
HP:0000407HP:0000407Sensorineural hearing impairment0HESX1 CL E G H88203157Lachiewicz Sibley syndromeORPHA01124877601802
HP:0000407HP:0000407Sensorineural hearing impairment0HLA-DPA1 CL E G H3113900ORPHA0184938142880
HP:0000407HP:0000407Sensorineural hearing impairment0HLA-DPB1 CL E G H3115900ORPHA0194940142858
HP:0000407HP:0000407Sensorineural hearing impairment0HOMER2 CL E G H9455616707Deafness, autosomal dominant 68616707C4225240OMIM014717513604799
HP:0000407HP:0000407Sensorineural hearing impairment0HOXA11 CL E G H320771289ORPHA0715101142958
HP:0000407HP:0000407Sensorineural hearing impairment0HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA01125201604846
HP:0000407HP:0000407Sensorineural hearing impairment0HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM024414348606441
HP:0000407HP:0000407Sensorineural hearing impairment0IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0000407HP:0000407Sensorineural hearing impairment0IDUA CL E G H342593474ORPHA017885391252800
HP:0000407HP:0000407Sensorineural hearing impairment0IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA016317616606807
HP:0000407HP:0000407Sensorineural hearing impairment0KAT6B CL E G H23522648ORPHA0100317582605880
HP:0000407HP:0000407Sensorineural hearing impairment0KCNAB2 CL E G H85141606ORPHA01146229601142
HP:0000407HP:0000407Sensorineural hearing impairment0KCNH1 CL E G H37563473MeningoencephaloceleORPHA05666250603305
HP:0000407HP:0000407Sensorineural hearing impairment0KIF7 CL E G H37465436Chromosome 3 duplication syndromeC2931333ORPHA0140130497611254
HP:0000407HP:0000407Sensorineural hearing impairment0KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA01544510604161
HP:0000407HP:0000407Sensorineural hearing impairment0KRAS CL E G H3845648ORPHA04806407190070
HP:0000407HP:0000407Sensorineural hearing impairment0LAMA4 CL E G H3910154Sandhaus Ben-Ami syndromeORPHA016136484600133
HP:0000407HP:0000407Sensorineural hearing impairment0LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM06512151350
HP:0000407HP:0000407Sensorineural hearing impairment0LDB3 CL E G H11155154Sandhaus Ben-Ami syndromeORPHA0122615710605906
HP:0000407HP:0000407Sensorineural hearing impairment0LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM03676556604407
HP:0000407HP:0000407Sensorineural hearing impairment0LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM07499479605490
HP:0000407HP:0000407Sensorineural hearing impairment0LOR CL E G H401479395ORPHA06663152445
HP:0000407HP:0000407Sensorineural hearing impairment0LRP2 CL E G H4036222448Donnai Barrow syndrome222448C1857277OMIM029376694600073
HP:0000407HP:0000407Sensorineural hearing impairment0LRP5 CL E G H40412790ORPHA018196697603506
HP:0000407HP:0000407Sensorineural hearing impairment0LZTR1 CL E G H8216648ORPHA028596742600574
HP:0000407HP:0000407Sensorineural hearing impairment0MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM02356859602614
HP:0000407HP:0000407Sensorineural hearing impairment0MAPK1 CL E G H5594261330ORPHA01406871176948
HP:0000407HP:0000407Sensorineural hearing impairment0MECOM CL E G H212271289ORPHA02603498165215
HP:0000407HP:0000407Sensorineural hearing impairment0MECOM CL E G H2122616738Radioulnar synostosis with amegakaryocytic thrombocytopenia 2616738C4225221OMIM02603498165215
HP:0000407HP:0000407Sensorineural hearing impairment0MEGF8 CL E G H1954614976Carpenter syndrome 2614976C3554247OMIM07123233604267
HP:0000407HP:0000407Sensorineural hearing impairment0MET CL E G H4233616705Deafness, autosomal recessive 97616705C4084709OMIM031847029164860
HP:0000407HP:0000407Sensorineural hearing impairment0MFN2 CL E G H992799947ORPHA0122216877608507
HP:0000407HP:0000407Sensorineural hearing impairment0MPDZ CL E G H8777615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies615219C3554691OMIM016107208603785
HP:0000407HP:0000407Sensorineural hearing impairment0MT-TE CL E G H45562596HantavirosisORPHA07479590025
HP:0000407HP:0000407Sensorineural hearing impairment0MYBPC3 CL E G H4607154Sandhaus Ben-Ami syndromeORPHA033177551600958
HP:0000407HP:0000407Sensorineural hearing impairment0MYH6 CL E G H4624154Sandhaus Ben-Ami syndromeORPHA021167576160710
HP:0000407HP:0000407Sensorineural hearing impairment0MYH7 CL E G H4625154Sandhaus Ben-Ami syndromeORPHA041067577160760
HP:0000407HP:0000407Sensorineural hearing impairment0MYO9A CL E G H464998914ORPHA02807608604875
HP:0000407HP:0000407Sensorineural hearing impairment0MYPN CL E G H84665154Sandhaus Ben-Ami syndromeORPHA0148523246608517
HP:0000407HP:0000407Sensorineural hearing impairment0NDP CL E G H4693649ORPHA02997678300658
HP:0000407HP:0000407Sensorineural hearing impairment0NEBL CL E G H10529154Sandhaus Ben-Ami syndromeORPHA0101616932605491
HP:0000407HP:0000407Sensorineural hearing impairment0NEXN CL E G H91624154Sandhaus Ben-Ami syndromeORPHA066929557613121
HP:0000407HP:0000407Sensorineural hearing impairment0NLRC4 CL E G H5848447045ORPHA064316412606831
HP:0000407HP:0000407Sensorineural hearing impairment0NLRP3 CL E G H11454847045ORPHA091716400606416
HP:0000407HP:0000407Sensorineural hearing impairment0NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM01337866602991
HP:0000407HP:0000407Sensorineural hearing impairment0NOTCH3 CL E G H4854136ORPHA013437883600276
HP:0000407HP:0000407Sensorineural hearing impairment0NOTCH3 CL E G H48542789ORPHA013437883600276
HP:0000407HP:0000407Sensorineural hearing impairment0NRAS CL E G H4893648ORPHA02817989164790
HP:0000407HP:0000407Sensorineural hearing impairment0NRTN CL E G H4902388Hirschsprung diseaseC0019569ORPHA0338007602018
HP:0000407HP:0000407Sensorineural hearing impairment0NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM053812766602952
HP:0000407HP:0000407Sensorineural hearing impairment0NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA019729843608137
HP:0000407HP:0000407Sensorineural hearing impairment0OTX2 CL E G H50153157Lachiewicz Sibley syndromeORPHA02318522600037
HP:0000407HP:0000407Sensorineural hearing impairment0PDK3 CL E G H5165300905Charcot-Marie-Tooth disease, X-linked dominant, 6300905C3806702OMIM03328811300906
HP:0000407HP:0000407Sensorineural hearing impairment0PDZD7 CL E G H79955618003DEAFNESS, AUTOSOMAL RECESSIVE 57618003CN248511OMIM092726257612971
HP:0000407HP:0000407Sensorineural hearing impairment0PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA09809143603851
HP:0000407HP:0000407Sensorineural hearing impairment0PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM030426031610274
HP:0000407HP:0000407Sensorineural hearing impairment0PITX3 CL E G H530988632ORPHA0549006602669
HP:0000407HP:0000407Sensorineural hearing impairment0PLAA CL E G H9373521426ORPHA05059043603873
HP:0000407HP:0000407Sensorineural hearing impairment0PLN CL E G H5350154Sandhaus Ben-Ami syndromeORPHA01789080172405
HP:0000407HP:0000407Sensorineural hearing impairment0PNPLA2 CL E G H5710498908ORPHA056630802609059
HP:0000407HP:0000407Sensorineural hearing impairment0PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM056630802609059
HP:0000407HP:0000407Sensorineural hearing impairment0POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM030726267615247
HP:0000407HP:0000407Sensorineural hearing impairment0PPCS CL E G H79717154Sandhaus Ben-Ami syndromeORPHA020425686609853
HP:0000407HP:0000407Sensorineural hearing impairment0PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM013414951613257
HP:0000407HP:0000407Sensorineural hearing impairment0PRDM16 CL E G H639761606ORPHA0127214000605557
HP:0000407HP:0000407Sensorineural hearing impairment0PRDM16 CL E G H63976154Sandhaus Ben-Ami syndromeORPHA0127214000605557
HP:0000407HP:0000407Sensorineural hearing impairment0PRKDC CL E G H5591615966Immunodeficiency 26 with or without neurologic abnormalities615966C4014833OMIM037489413600899
HP:0000407HP:0000407Sensorineural hearing impairment0PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA06518455607002
HP:0000407HP:0000407Sensorineural hearing impairment0PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA016015836607123
HP:0000407HP:0000407Sensorineural hearing impairment0PROKR2 CL E G H1286743157Lachiewicz Sibley syndromeORPHA016015836607123
HP:0000407HP:0000407Sensorineural hearing impairment0PRRT2 CL E G H112476569ORPHA079930500614386
HP:0000407HP:0000407Sensorineural hearing impairment0PRTN3 CL E G H5657900ORPHA0559495177020
HP:0000407HP:0000407Sensorineural hearing impairment0PSEN1 CL E G H5663154Sandhaus Ben-Ami syndromeORPHA05019508104311
HP:0000407HP:0000407Sensorineural hearing impairment0PSEN2 CL E G H5664154Sandhaus Ben-Ami syndromeORPHA02799509600759
HP:0000407HP:0000407Sensorineural hearing impairment0PTPN11 CL E G H5781648ORPHA08549644176876
HP:0000407HP:0000407Sensorineural hearing impairment0PTPN22 CL E G H26191900ORPHA0639652600716
HP:0000407HP:0000407Sensorineural hearing impairment0RAF1 CL E G H5894648ORPHA09909829164760
HP:0000407HP:0000407Sensorineural hearing impairment0RAF1 CL E G H5894154Sandhaus Ben-Ami syndromeORPHA09909829164760
HP:0000407HP:0000407Sensorineural hearing impairment0RASA2 CL E G H5922648ORPHA05339872601589
HP:0000407HP:0000407Sensorineural hearing impairment0RBM20 CL E G H282996154Sandhaus Ben-Ami syndromeORPHA0162327424613171
HP:0000407HP:0000407Sensorineural hearing impairment0RBM8A CL E G H99393320ORPHA02529905605313
HP:0000407HP:0000407Sensorineural hearing impairment0RERE CL E G H4731606ORPHA06599965605226
HP:0000407HP:0000407Sensorineural hearing impairment0RET CL E G H597999803Haddad syndromeC1859587ORPHA031659967164761
HP:0000407HP:0000407Sensorineural hearing impairment0RET CL E G H5979388Hirschsprung diseaseC0019569ORPHA031659967164761
HP:0000407HP:0000407Sensorineural hearing impairment0RIT1 CL E G H6016648ORPHA026910023609591
HP:0000407HP:0000407Sensorineural hearing impairment0RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0000407HP:0000407Sensorineural hearing impairment0ROBO3 CL E G H642212744ORPHA031413433608630
HP:0000407HP:0000407Sensorineural hearing impairment0RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA051510432300075
HP:0000407HP:0000407Sensorineural hearing impairment0RRAS CL E G H6237648ORPHA026010447165090
HP:0000407HP:0000407Sensorineural hearing impairment0SALL1 CL E G H6299107480Townes-Brocks syndrome 1107480CN034849OMIM044110524602218
HP:0000407HP:0000407Sensorineural hearing impairment0SCN1A CL E G H6323569ORPHA0403010585182389
HP:0000407HP:0000407Sensorineural hearing impairment0SCN5A CL E G H6331154Sandhaus Ben-Ami syndromeORPHA0353110593600163
HP:0000407HP:0000407Sensorineural hearing impairment0SDHA CL E G H6389154Sandhaus Ben-Ami syndromeORPHA0250310680600857
HP:0000407HP:0000407Sensorineural hearing impairment0SEM1 CL E G H79792440ORPHA02510845601285
HP:0000407HP:0000407Sensorineural hearing impairment0SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA021410723603961
HP:0000407HP:0000407Sensorineural hearing impairment0SEMA3C CL E G H10512388Hirschsprung diseaseC0019569ORPHA09110725602645
HP:0000407HP:0000407Sensorineural hearing impairment0SEMA3D CL E G H223117388Hirschsprung diseaseC0019569ORPHA09810726609907
HP:0000407HP:0000407Sensorineural hearing impairment0SGCD CL E G H6444154Sandhaus Ben-Ami syndromeORPHA067310807601411
HP:0000407HP:0000407Sensorineural hearing impairment0SKI CL E G H64971606ORPHA0106210896164780
HP:0000407HP:0000407Sensorineural hearing impairment0SLC18A3 CL E G H657298914ORPHA030510936600336
HP:0000407HP:0000407Sensorineural hearing impairment0SLC25A1 CL E G H657698914ORPHA056810979190315
HP:0000407HP:0000407Sensorineural hearing impairment0SLC25A4 CL E G H291609283Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2609283C1836460OMIM033310990103220
HP:0000407HP:0000407Sensorineural hearing impairment0SLC5A7 CL E G H6048298914ORPHA045514025608761
HP:0000407HP:0000407Sensorineural hearing impairment0SNAP25 CL E G H661698914ORPHA021811132600322
HP:0000407HP:0000407Sensorineural hearing impairment0SNAP29 CL E G H934266631ORPHA065811133604202
HP:0000407HP:0000407Sensorineural hearing impairment0SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM027014977616105
HP:0000407HP:0000407Sensorineural hearing impairment0SOS1 CL E G H6654648ORPHA0150311187182530
HP:0000407HP:0000407Sensorineural hearing impairment0SOS2 CL E G H6655648ORPHA0125011188601247
HP:0000407HP:0000407Sensorineural hearing impairment0SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA037811190602229
HP:0000407HP:0000407Sensorineural hearing impairment0SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM037811190602229
HP:0000407HP:0000407Sensorineural hearing impairment0SOX2 CL E G H66573157Lachiewicz Sibley syndromeORPHA021111195184429
HP:0000407HP:0000407Sensorineural hearing impairment0SOX3 CL E G H66583157Lachiewicz Sibley syndromeORPHA026411199313430
HP:0000407HP:0000407Sensorineural hearing impairment0SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA07815533607984
HP:0000407HP:0000407Sensorineural hearing impairment0ST3GAL5 CL E G H8869370938ORPHA037310872604402
HP:0000407HP:0000407Sensorineural hearing impairment0SUFU CL E G H5168436Chromosome 3 duplication syndromeC2931333ORPHA0130616466607035
HP:0000407HP:0000407Sensorineural hearing impairment0SYT2 CL E G H12783398914ORPHA023211510600104
HP:0000407HP:0000407Sensorineural hearing impairment0TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA013211528162332
HP:0000407HP:0000407Sensorineural hearing impairment0TAF1A CL E G H9015154Sandhaus Ben-Ami syndromeORPHA04911532604903
HP:0000407HP:0000407Sensorineural hearing impairment0TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0000407HP:0000407Sensorineural hearing impairment0TAZ CL E G H6901154Sandhaus Ben-Ami syndromeORPHA011577300394
HP:0000407HP:0000407Sensorineural hearing impairment0TCAP CL E G H8557154Sandhaus Ben-Ami syndromeORPHA029811610604488
HP:0000407HP:0000407Sensorineural hearing impairment0TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM018525382612988
HP:0000407HP:0000407Sensorineural hearing impairment0TMPO CL E G H7112154Sandhaus Ben-Ami syndromeORPHA059711875188380
HP:0000407HP:0000407Sensorineural hearing impairment0TNNC1 CL E G H7134154Sandhaus Ben-Ami syndromeORPHA030011943191040
HP:0000407HP:0000407Sensorineural hearing impairment0TNNI3 CL E G H7137154Sandhaus Ben-Ami syndromeORPHA065511947191044
HP:0000407HP:0000407Sensorineural hearing impairment0TNNT2 CL E G H7139154Sandhaus Ben-Ami syndromeORPHA081711949191045
HP:0000407HP:0000407Sensorineural hearing impairment0TP63 CL E G H86262440ORPHA063115979603273
HP:0000407HP:0000407Sensorineural hearing impairment0TP63 CL E G H86261896Dominant cleft palateORPHA063115979603273
HP:0000407HP:0000407Sensorineural hearing impairment0TPM1 CL E G H7168154Sandhaus Ben-Ami syndromeORPHA076712010191010
HP:0000407HP:0000407Sensorineural hearing impairment0TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0000407HP:0000407Sensorineural hearing impairment0TRNT1 CL E G H51095616084Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay616084C4015172OMIM062017341612907
HP:0000407HP:0000407Sensorineural hearing impairment0TTN CL E G H7273154Sandhaus Ben-Ami syndromeORPHA02750312403188840
HP:0000407HP:0000407Sensorineural hearing impairment0TWIST1 CL E G H7291794ORPHA021412428601622
HP:0000407HP:0000407Sensorineural hearing impairment0TXNRD2 CL E G H10587154Sandhaus Ben-Ami syndromeORPHA0106818155606448
HP:0000407HP:0000407Sensorineural hearing impairment0VAMP1 CL E G H684398914ORPHA014112642185880
HP:0000407HP:0000407Sensorineural hearing impairment0VCL CL E G H7414154Sandhaus Ben-Ami syndromeORPHA0117512665193065
HP:0000407HP:0000407Sensorineural hearing impairment0VPS13B CL E G H157680193ORPHA048762183607817
HP:0000407HP:0000407Sensorineural hearing impairment0WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM027617327615049
HP:0000407HP:0000407Sensorineural hearing impairment0WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA036913831606417
HP:0000407HP:0000407Sensorineural hearing impairment0WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM0127640
HP:0000407HP:0000407Sensorineural hearing impairment0WNT10B CL E G H74802440ORPHA08512775601906
HP:0000407HP:0000407Sensorineural hearing impairment0XPNPEP3 CL E G H63929613159Nephronophthisis-like nephropathy 1613159C3150419OMIM032428052613553
HP:0000407HP:0000407Sensorineural hearing impairment0XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM012912831194363
HP:0000407HP:0000407Sensorineural hearing impairment0ZIC1 CL E G H7545616602Craniosynostosis 6616602C4225269OMIM012912872600470
HP:0000407HP:0000410Mixed hearing impairment1A2ML1 CL E G H144568648ORPHA0140323336610627
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1A2ML1 CL E G H144568648ORPHA0140323336610627
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1A2ML1 CL E G H144568648ORPHA0140323336610627
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1A2ML1 CL E G H144568648ORPHA0140323336610627
HP:0000407HP:0008527Congenital sensorineural hearing impairment1A2ML1 CL E G H144568648ORPHA0140323336610627
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1A2ML1 CL E G H144568648ORPHA0140323336610627
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1A2ML1 CL E G H144568648ORPHA0140323336610627
HP:0000407HP:0008587Mild neurosensory hearing impairment1A2ML1 CL E G H144568648ORPHA0140323336610627
HP:0000407HP:0008504Moderate sensorineural hearing impairment1A2ML1 CL E G H144568648ORPHA0140323336610627
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1A2ML1 CL E G H144568648ORPHA0140323336610627
HP:0000407HP:0011476Profound sensorineural hearing impairment1A2ML1 CL E G H144568648ORPHA0140323336610627
HP:0000407HP:0000408Progressive sensorineural hearing impairment1A2ML1 CL E G H144568648ORPHA0140323336610627
HP:0000407HP:0008625Severe sensorineural hearing impairment1A2ML1 CL E G H144568648ORPHA0140323336610627
HP:0000407HP:0000410Mixed hearing impairment1AAAS CL E G H8086869ORPHA021713666605378
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1AAAS CL E G H8086869ORPHA021713666605378
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1AAAS CL E G H8086869ORPHA021713666605378
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1AAAS CL E G H8086869ORPHA021713666605378
HP:0000407HP:0008527Congenital sensorineural hearing impairment1AAAS CL E G H8086869ORPHA021713666605378
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1AAAS CL E G H8086869ORPHA021713666605378
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1AAAS CL E G H8086869ORPHA021713666605378
HP:0000407HP:0008587Mild neurosensory hearing impairment1AAAS CL E G H8086869ORPHA021713666605378
HP:0000407HP:0008504Moderate sensorineural hearing impairment1AAAS CL E G H8086869ORPHA021713666605378
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1AAAS CL E G H8086869ORPHA021713666605378
HP:0000407HP:0011476Profound sensorineural hearing impairment1AAAS CL E G H8086869ORPHA021713666605378
HP:0000407HP:0000408Progressive sensorineural hearing impairment1AAAS CL E G H8086869ORPHA021713666605378
HP:0000407HP:0008625Severe sensorineural hearing impairment1AAAS CL E G H8086869ORPHA021713666605378
HP:0000407HP:0000410Mixed hearing impairment1ABCC9 CL E G H10060154Sandhaus Ben-Ami syndromeORPHA0150760601439
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ABCC9 CL E G H10060154Sandhaus Ben-Ami syndromeORPHA0150760601439
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ABCC9 CL E G H10060154Sandhaus Ben-Ami syndromeORPHA0150760601439
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ABCC9 CL E G H10060154Sandhaus Ben-Ami syndromeORPHA0150760601439
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ABCC9 CL E G H10060154Sandhaus Ben-Ami syndromeORPHA0150760601439
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ABCC9 CL E G H10060154Sandhaus Ben-Ami syndromeORPHA0150760601439
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ABCC9 CL E G H10060154Sandhaus Ben-Ami syndromeORPHA0150760601439
HP:0000407HP:0008587Mild neurosensory hearing impairment1ABCC9 CL E G H10060154Sandhaus Ben-Ami syndromeORPHA0150760601439
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ABCC9 CL E G H10060154Sandhaus Ben-Ami syndromeORPHA0150760601439
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ABCC9 CL E G H10060154Sandhaus Ben-Ami syndromeORPHA0150760601439
HP:0000407HP:0011476Profound sensorineural hearing impairment1ABCC9 CL E G H10060154Sandhaus Ben-Ami syndromeORPHA0150760601439
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ABCC9 CL E G H10060154Sandhaus Ben-Ami syndromeORPHA0150760601439
HP:0000407HP:0008625Severe sensorineural hearing impairment1ABCC9 CL E G H10060154Sandhaus Ben-Ami syndromeORPHA0150760601439
HP:0000407HP:0000410Mixed hearing impairment1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM0681118100850
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM0681118100850
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM0681118100850
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM0681118100850
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM0681118100850
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM0681118100850
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM0681118100850
HP:0000407HP:0008587Mild neurosensory hearing impairment1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM0681118100850
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM0681118100850
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM0681118100850
HP:0000407HP:0011476Profound sensorineural hearing impairment1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM0681118100850
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM0681118100850
HP:0000407HP:0008625Severe sensorineural hearing impairment1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM0681118100850
HP:0000407HP:0000410Mixed hearing impairment1ACTC1 CL E G H70154Sandhaus Ben-Ami syndromeORPHA0672143102540
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ACTC1 CL E G H70154Sandhaus Ben-Ami syndromeORPHA0672143102540
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ACTC1 CL E G H70154Sandhaus Ben-Ami syndromeORPHA0672143102540
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ACTC1 CL E G H70154Sandhaus Ben-Ami syndromeORPHA0672143102540
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ACTC1 CL E G H70154Sandhaus Ben-Ami syndromeORPHA0672143102540
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ACTC1 CL E G H70154Sandhaus Ben-Ami syndromeORPHA0672143102540
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ACTC1 CL E G H70154Sandhaus Ben-Ami syndromeORPHA0672143102540
HP:0000407HP:0008587Mild neurosensory hearing impairment1ACTC1 CL E G H70154Sandhaus Ben-Ami syndromeORPHA0672143102540
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ACTC1 CL E G H70154Sandhaus Ben-Ami syndromeORPHA0672143102540
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ACTC1 CL E G H70154Sandhaus Ben-Ami syndromeORPHA0672143102540
HP:0000407HP:0011476Profound sensorineural hearing impairment1ACTC1 CL E G H70154Sandhaus Ben-Ami syndromeORPHA0672143102540
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ACTC1 CL E G H70154Sandhaus Ben-Ami syndromeORPHA0672143102540
HP:0000407HP:0008625Severe sensorineural hearing impairment1ACTC1 CL E G H70154Sandhaus Ben-Ami syndromeORPHA0672143102540
HP:0000407HP:0000410Mixed hearing impairment1ACTN2 CL E G H88154Sandhaus Ben-Ami syndromeORPHA01361164102573
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ACTN2 CL E G H88154Sandhaus Ben-Ami syndromeORPHA01361164102573
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ACTN2 CL E G H88154Sandhaus Ben-Ami syndromeORPHA01361164102573
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ACTN2 CL E G H88154Sandhaus Ben-Ami syndromeORPHA01361164102573
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ACTN2 CL E G H88154Sandhaus Ben-Ami syndromeORPHA01361164102573
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ACTN2 CL E G H88154Sandhaus Ben-Ami syndromeORPHA01361164102573
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ACTN2 CL E G H88154Sandhaus Ben-Ami syndromeORPHA01361164102573
HP:0000407HP:0008587Mild neurosensory hearing impairment1ACTN2 CL E G H88154Sandhaus Ben-Ami syndromeORPHA01361164102573
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ACTN2 CL E G H88154Sandhaus Ben-Ami syndromeORPHA01361164102573
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ACTN2 CL E G H88154Sandhaus Ben-Ami syndromeORPHA01361164102573
HP:0000407HP:0011476Profound sensorineural hearing impairment1ACTN2 CL E G H88154Sandhaus Ben-Ami syndromeORPHA01361164102573
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ACTN2 CL E G H88154Sandhaus Ben-Ami syndromeORPHA01361164102573
HP:0000407HP:0008625Severe sensorineural hearing impairment1ACTN2 CL E G H88154Sandhaus Ben-Ami syndromeORPHA01361164102573
HP:0000407HP:0000410Mixed hearing impairment1ACY1 CL E G H95137754ORPHA0153177104620
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ACY1 CL E G H95137754ORPHA0153177104620
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ACY1 CL E G H95137754ORPHA0153177104620
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ACY1 CL E G H95137754ORPHA0153177104620
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ACY1 CL E G H95137754ORPHA0153177104620
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ACY1 CL E G H95137754ORPHA0153177104620
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ACY1 CL E G H95137754ORPHA0153177104620
HP:0000407HP:0008587Mild neurosensory hearing impairment1ACY1 CL E G H95137754ORPHA0153177104620
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ACY1 CL E G H95137754ORPHA0153177104620
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ACY1 CL E G H95137754ORPHA0153177104620
HP:0000407HP:0011476Profound sensorineural hearing impairment1ACY1 CL E G H95137754ORPHA0153177104620
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ACY1 CL E G H95137754ORPHA0153177104620
HP:0000407HP:0008625Severe sensorineural hearing impairment1ACY1 CL E G H95137754ORPHA0153177104620
HP:0000407HP:0000410Mixed hearing impairment1ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM0137257102750
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM0137257102750
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM0137257102750
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM0137257102750
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM0137257102750
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM0137257102750
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM0137257102750
HP:0000407HP:0008587Mild neurosensory hearing impairment1ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM0137257102750
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM0137257102750
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM0137257102750
HP:0000407HP:0011476Profound sensorineural hearing impairment1ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM0137257102750
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM0137257102750
HP:0000407HP:0008625Severe sensorineural hearing impairment1ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM0137257102750
HP:0000407HP:0000410Mixed hearing impairment1AGRN CL E G H37579098914ORPHA02176329103320
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1AGRN CL E G H37579098914ORPHA02176329103320
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1AGRN CL E G H37579098914ORPHA02176329103320
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1AGRN CL E G H37579098914ORPHA02176329103320
HP:0000407HP:0008527Congenital sensorineural hearing impairment1AGRN CL E G H37579098914ORPHA02176329103320
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1AGRN CL E G H37579098914ORPHA02176329103320
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1AGRN CL E G H37579098914ORPHA02176329103320
HP:0000407HP:0008587Mild neurosensory hearing impairment1AGRN CL E G H37579098914ORPHA02176329103320
HP:0000407HP:0008504Moderate sensorineural hearing impairment1AGRN CL E G H37579098914ORPHA02176329103320
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1AGRN CL E G H37579098914ORPHA02176329103320
HP:0000407HP:0011476Profound sensorineural hearing impairment1AGRN CL E G H37579098914ORPHA02176329103320
HP:0000407HP:0000408Progressive sensorineural hearing impairment1AGRN CL E G H37579098914ORPHA02176329103320
HP:0000407HP:0008625Severe sensorineural hearing impairment1AGRN CL E G H37579098914ORPHA02176329103320
HP:0000407HP:0000410Mixed hearing impairment1AIFM1 CL E G H9131310490Cowchock syndrome310490C0795910OMIM05758768300169
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1AIFM1 CL E G H9131310490Cowchock syndrome310490C0795910OMIM05758768300169
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1AIFM1 CL E G H9131310490Cowchock syndrome310490C0795910OMIM05758768300169
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1AIFM1 CL E G H9131310490Cowchock syndrome310490C0795910OMIM05758768300169
HP:0000407HP:0008527Congenital sensorineural hearing impairment1AIFM1 CL E G H9131310490Cowchock syndrome310490C0795910OMIM05758768300169
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1AIFM1 CL E G H9131310490Cowchock syndrome310490C0795910OMIM05758768300169
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1AIFM1 CL E G H9131310490Cowchock syndrome310490C0795910OMIM05758768300169
HP:0000407HP:0008587Mild neurosensory hearing impairment1AIFM1 CL E G H9131310490Cowchock syndrome310490C0795910OMIM05758768300169
HP:0000407HP:0008504Moderate sensorineural hearing impairment1AIFM1 CL E G H9131310490Cowchock syndrome310490C0795910OMIM05758768300169
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1AIFM1 CL E G H9131310490Cowchock syndrome310490C0795910OMIM05758768300169
HP:0000407HP:0011476Profound sensorineural hearing impairment1AIFM1 CL E G H9131310490Cowchock syndrome310490C0795910OMIM05758768300169
HP:0000407HP:0000408Progressive sensorineural hearing impairment1AIFM1 CL E G H9131310490Cowchock syndrome310490C0795910OMIM05758768300169
HP:0000407HP:0008625Severe sensorineural hearing impairment1AIFM1 CL E G H9131310490Cowchock syndrome310490C0795910OMIM05758768300169
HP:0000407HP:0000410Mixed hearing impairment1ALDH18A1 CL E G H5832447753ORPHA05869722138250
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ALDH18A1 CL E G H5832447753ORPHA05869722138250
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ALDH18A1 CL E G H5832447753ORPHA05869722138250
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ALDH18A1 CL E G H5832447753ORPHA05869722138250
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ALDH18A1 CL E G H5832447753ORPHA05869722138250
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ALDH18A1 CL E G H5832447753ORPHA05869722138250
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ALDH18A1 CL E G H5832447753ORPHA05869722138250
HP:0000407HP:0008587Mild neurosensory hearing impairment1ALDH18A1 CL E G H5832447753ORPHA05869722138250
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ALDH18A1 CL E G H5832447753ORPHA05869722138250
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ALDH18A1 CL E G H5832447753ORPHA05869722138250
HP:0000407HP:0011476Profound sensorineural hearing impairment1ALDH18A1 CL E G H5832447753ORPHA05869722138250
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ALDH18A1 CL E G H5832447753ORPHA05869722138250
HP:0000407HP:0008625Severe sensorineural hearing impairment1ALDH18A1 CL E G H5832447753ORPHA05869722138250
HP:0000407HP:0000410Mixed hearing impairment1ALG11 CL E G H440138613661Congenital disorder of glycosylation type 1P613661C3150913OMIM024432456613666
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ALG11 CL E G H440138613661Congenital disorder of glycosylation type 1P613661C3150913OMIM024432456613666
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ALG11 CL E G H440138613661Congenital disorder of glycosylation type 1P613661C3150913OMIM024432456613666
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ALG11 CL E G H440138613661Congenital disorder of glycosylation type 1P613661C3150913OMIM024432456613666
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ALG11 CL E G H440138613661Congenital disorder of glycosylation type 1P613661C3150913OMIM024432456613666
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ALG11 CL E G H440138613661Congenital disorder of glycosylation type 1P613661C3150913OMIM024432456613666
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ALG11 CL E G H440138613661Congenital disorder of glycosylation type 1P613661C3150913OMIM024432456613666
HP:0000407HP:0008587Mild neurosensory hearing impairment1ALG11 CL E G H440138613661Congenital disorder of glycosylation type 1P613661C3150913OMIM024432456613666
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ALG11 CL E G H440138613661Congenital disorder of glycosylation type 1P613661C3150913OMIM024432456613666
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ALG11 CL E G H440138613661Congenital disorder of glycosylation type 1P613661C3150913OMIM024432456613666
HP:0000407HP:0011476Profound sensorineural hearing impairment1ALG11 CL E G H440138613661Congenital disorder of glycosylation type 1P613661C3150913OMIM024432456613666
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ALG11 CL E G H440138613661Congenital disorder of glycosylation type 1P613661C3150913OMIM024432456613666
HP:0000407HP:0008625Severe sensorineural hearing impairment1ALG11 CL E G H440138613661Congenital disorder of glycosylation type 1P613661C3150913OMIM024432456613666
HP:0000407HP:0000410Mixed hearing impairment1ANKH CL E G H561721522ORPHA050815492605145
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ANKH CL E G H561721522ORPHA050815492605145
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ANKH CL E G H561721522ORPHA050815492605145
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ANKH CL E G H561721522ORPHA050815492605145
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ANKH CL E G H561721522ORPHA050815492605145
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ANKH CL E G H561721522ORPHA050815492605145
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ANKH CL E G H561721522ORPHA050815492605145
HP:0000407HP:0008587Mild neurosensory hearing impairment1ANKH CL E G H561721522ORPHA050815492605145
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ANKH CL E G H561721522ORPHA050815492605145
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ANKH CL E G H561721522ORPHA050815492605145
HP:0000407HP:0011476Profound sensorineural hearing impairment1ANKH CL E G H561721522ORPHA050815492605145
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ANKH CL E G H561721522ORPHA050815492605145
HP:0000407HP:0008625Severe sensorineural hearing impairment1ANKH CL E G H561721522ORPHA050815492605145
HP:0000407HP:0000410Mixed hearing impairment1ANKRD1 CL E G H27063154Sandhaus Ben-Ami syndromeORPHA044215819609599
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ANKRD1 CL E G H27063154Sandhaus Ben-Ami syndromeORPHA044215819609599
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ANKRD1 CL E G H27063154Sandhaus Ben-Ami syndromeORPHA044215819609599
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ANKRD1 CL E G H27063154Sandhaus Ben-Ami syndromeORPHA044215819609599
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ANKRD1 CL E G H27063154Sandhaus Ben-Ami syndromeORPHA044215819609599
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ANKRD1 CL E G H27063154Sandhaus Ben-Ami syndromeORPHA044215819609599
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ANKRD1 CL E G H27063154Sandhaus Ben-Ami syndromeORPHA044215819609599
HP:0000407HP:0008587Mild neurosensory hearing impairment1ANKRD1 CL E G H27063154Sandhaus Ben-Ami syndromeORPHA044215819609599
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ANKRD1 CL E G H27063154Sandhaus Ben-Ami syndromeORPHA044215819609599
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ANKRD1 CL E G H27063154Sandhaus Ben-Ami syndromeORPHA044215819609599
HP:0000407HP:0011476Profound sensorineural hearing impairment1ANKRD1 CL E G H27063154Sandhaus Ben-Ami syndromeORPHA044215819609599
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ANKRD1 CL E G H27063154Sandhaus Ben-Ami syndromeORPHA044215819609599
HP:0000407HP:0008625Severe sensorineural hearing impairment1ANKRD1 CL E G H27063154Sandhaus Ben-Ami syndromeORPHA044215819609599
HP:0000407HP:0000410Mixed hearing impairment1ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA04706211300836
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA04706211300836
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA04706211300836
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA04706211300836
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA04706211300836
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA04706211300836
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA04706211300836
HP:0000407HP:0008587Mild neurosensory hearing impairment1ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA04706211300836
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA04706211300836
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA04706211300836
HP:0000407HP:0011476Profound sensorineural hearing impairment1ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA04706211300836
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA04706211300836
HP:0000407HP:0008625Severe sensorineural hearing impairment1ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA04706211300836
HP:0000407HP:0000410Mixed hearing impairment1ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA019416876606036
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA019416876606036
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA019416876606036
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA019416876606036
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA019416876606036
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA019416876606036
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA019416876606036
HP:0000407HP:0008587Mild neurosensory hearing impairment1ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA019416876606036
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA019416876606036
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA019416876606036
HP:0000407HP:0011476Profound sensorineural hearing impairment1ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA019416876606036
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA019416876606036
HP:0000407HP:0008625Severe sensorineural hearing impairment1ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA019416876606036
HP:0000407HP:0000410Mixed hearing impairment1ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA043738100790
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA043738100790
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA043738100790
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA043738100790
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA043738100790
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA043738100790
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA043738100790
HP:0000407HP:0008587Mild neurosensory hearing impairment1ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA043738100790
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA043738100790
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA043738100790
HP:0000407HP:0011476Profound sensorineural hearing impairment1ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA043738100790
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA043738100790
HP:0000407HP:0008625Severe sensorineural hearing impairment1ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA043738100790
HP:0000407HP:0000410Mixed hearing impairment1ATP1A2 CL E G H477569ORPHA01117800182340
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ATP1A2 CL E G H477569ORPHA01117800182340
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ATP1A2 CL E G H477569ORPHA01117800182340
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ATP1A2 CL E G H477569ORPHA01117800182340
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ATP1A2 CL E G H477569ORPHA01117800182340
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ATP1A2 CL E G H477569ORPHA01117800182340
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ATP1A2 CL E G H477569ORPHA01117800182340
HP:0000407HP:0008587Mild neurosensory hearing impairment1ATP1A2 CL E G H477569ORPHA01117800182340
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ATP1A2 CL E G H477569ORPHA01117800182340
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ATP1A2 CL E G H477569ORPHA01117800182340
HP:0000407HP:0011476Profound sensorineural hearing impairment1ATP1A2 CL E G H477569ORPHA01117800182340
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ATP1A2 CL E G H477569ORPHA01117800182340
HP:0000407HP:0008625Severe sensorineural hearing impairment1ATP1A2 CL E G H477569ORPHA01117800182340
HP:0000407HP:0000410Mixed hearing impairment1ATP6V1B2 CL E G H5263473MeningoencephaloceleORPHA0167854606939
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ATP6V1B2 CL E G H5263473MeningoencephaloceleORPHA0167854606939
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ATP6V1B2 CL E G H5263473MeningoencephaloceleORPHA0167854606939
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ATP6V1B2 CL E G H5263473MeningoencephaloceleORPHA0167854606939
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ATP6V1B2 CL E G H5263473MeningoencephaloceleORPHA0167854606939
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ATP6V1B2 CL E G H5263473MeningoencephaloceleORPHA0167854606939
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ATP6V1B2 CL E G H5263473MeningoencephaloceleORPHA0167854606939
HP:0000407HP:0008587Mild neurosensory hearing impairment1ATP6V1B2 CL E G H5263473MeningoencephaloceleORPHA0167854606939
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ATP6V1B2 CL E G H5263473MeningoencephaloceleORPHA0167854606939
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ATP6V1B2 CL E G H5263473MeningoencephaloceleORPHA0167854606939
HP:0000407HP:0011476Profound sensorineural hearing impairment1ATP6V1B2 CL E G H5263473MeningoencephaloceleORPHA0167854606939
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ATP6V1B2 CL E G H5263473MeningoencephaloceleORPHA0167854606939
HP:0000407HP:0008625Severe sensorineural hearing impairment1ATP6V1B2 CL E G H5263473MeningoencephaloceleORPHA0167854606939
HP:0000407HP:0000410Mixed hearing impairment1ATRX CL E G H546847ORPHA01925886300032
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ATRX CL E G H546847ORPHA01925886300032
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ATRX CL E G H546847ORPHA01925886300032
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ATRX CL E G H546847ORPHA01925886300032
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ATRX CL E G H546847ORPHA01925886300032
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ATRX CL E G H546847ORPHA01925886300032
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ATRX CL E G H546847ORPHA01925886300032
HP:0000407HP:0008587Mild neurosensory hearing impairment1ATRX CL E G H546847ORPHA01925886300032
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ATRX CL E G H546847ORPHA01925886300032
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ATRX CL E G H546847ORPHA01925886300032
HP:0000407HP:0011476Profound sensorineural hearing impairment1ATRX CL E G H546847ORPHA01925886300032
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ATRX CL E G H546847ORPHA01925886300032
HP:0000407HP:0008625Severe sensorineural hearing impairment1ATRX CL E G H546847ORPHA01925886300032
HP:0000407HP:0000410Mixed hearing impairment1BAG3 CL E G H9531154Sandhaus Ben-Ami syndromeORPHA0986939603883
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1BAG3 CL E G H9531154Sandhaus Ben-Ami syndromeORPHA0986939603883
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1BAG3 CL E G H9531154Sandhaus Ben-Ami syndromeORPHA0986939603883
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1BAG3 CL E G H9531154Sandhaus Ben-Ami syndromeORPHA0986939603883
HP:0000407HP:0008527Congenital sensorineural hearing impairment1BAG3 CL E G H9531154Sandhaus Ben-Ami syndromeORPHA0986939603883
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1BAG3 CL E G H9531154Sandhaus Ben-Ami syndromeORPHA0986939603883
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1BAG3 CL E G H9531154Sandhaus Ben-Ami syndromeORPHA0986939603883
HP:0000407HP:0008587Mild neurosensory hearing impairment1BAG3 CL E G H9531154Sandhaus Ben-Ami syndromeORPHA0986939603883
HP:0000407HP:0008504Moderate sensorineural hearing impairment1BAG3 CL E G H9531154Sandhaus Ben-Ami syndromeORPHA0986939603883
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1BAG3 CL E G H9531154Sandhaus Ben-Ami syndromeORPHA0986939603883
HP:0000407HP:0011476Profound sensorineural hearing impairment1BAG3 CL E G H9531154Sandhaus Ben-Ami syndromeORPHA0986939603883
HP:0000407HP:0000408Progressive sensorineural hearing impairment1BAG3 CL E G H9531154Sandhaus Ben-Ami syndromeORPHA0986939603883
HP:0000407HP:0008625Severe sensorineural hearing impairment1BAG3 CL E G H9531154Sandhaus Ben-Ami syndromeORPHA0986939603883
HP:0000407HP:0000410Mixed hearing impairment1BCOR CL E G H548802712HMG CoA synthetase deficiencyCN072869ORPHA068820893300485
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1BCOR CL E G H548802712HMG CoA synthetase deficiencyCN072869ORPHA068820893300485
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1BCOR CL E G H548802712HMG CoA synthetase deficiencyCN072869ORPHA068820893300485
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1BCOR CL E G H548802712HMG CoA synthetase deficiencyCN072869ORPHA068820893300485
HP:0000407HP:0008527Congenital sensorineural hearing impairment1BCOR CL E G H548802712HMG CoA synthetase deficiencyCN072869ORPHA068820893300485
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1BCOR CL E G H548802712HMG CoA synthetase deficiencyCN072869ORPHA068820893300485
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1BCOR CL E G H548802712HMG CoA synthetase deficiencyCN072869ORPHA068820893300485
HP:0000407HP:0008587Mild neurosensory hearing impairment1BCOR CL E G H548802712HMG CoA synthetase deficiencyCN072869ORPHA068820893300485
HP:0000407HP:0008504Moderate sensorineural hearing impairment1BCOR CL E G H548802712HMG CoA synthetase deficiencyCN072869ORPHA068820893300485
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1BCOR CL E G H548802712HMG CoA synthetase deficiencyCN072869ORPHA068820893300485
HP:0000407HP:0011476Profound sensorineural hearing impairment1BCOR CL E G H548802712HMG CoA synthetase deficiencyCN072869ORPHA068820893300485
HP:0000407HP:0000408Progressive sensorineural hearing impairment1BCOR CL E G H548802712HMG CoA synthetase deficiencyCN072869ORPHA068820893300485
HP:0000407HP:0008625Severe sensorineural hearing impairment1BCOR CL E G H548802712HMG CoA synthetase deficiencyCN072869ORPHA068820893300485
HP:0000407HP:0000410Mixed hearing impairment1BCR CL E G H613261330ORPHA02771014151410
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1BCR CL E G H613261330ORPHA02771014151410
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1BCR CL E G H613261330ORPHA02771014151410
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1BCR CL E G H613261330ORPHA02771014151410
HP:0000407HP:0008527Congenital sensorineural hearing impairment1BCR CL E G H613261330ORPHA02771014151410
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1BCR CL E G H613261330ORPHA02771014151410
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1BCR CL E G H613261330ORPHA02771014151410
HP:0000407HP:0008587Mild neurosensory hearing impairment1BCR CL E G H613261330ORPHA02771014151410
HP:0000407HP:0008504Moderate sensorineural hearing impairment1BCR CL E G H613261330ORPHA02771014151410
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1BCR CL E G H613261330ORPHA02771014151410
HP:0000407HP:0011476Profound sensorineural hearing impairment1BCR CL E G H613261330ORPHA02771014151410
HP:0000407HP:0000408Progressive sensorineural hearing impairment1BCR CL E G H613261330ORPHA02771014151410
HP:0000407HP:0008625Severe sensorineural hearing impairment1BCR CL E G H613261330ORPHA02771014151410
HP:0000407HP:0000410Mixed hearing impairment1BEAN1 CL E G H146227117210Spinocerebellar ataxia 31117210C1861736OMIM05624160612051
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1BEAN1 CL E G H146227117210Spinocerebellar ataxia 31117210C1861736OMIM05624160612051
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1BEAN1 CL E G H146227117210Spinocerebellar ataxia 31117210C1861736OMIM05624160612051
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1BEAN1 CL E G H146227117210Spinocerebellar ataxia 31117210C1861736OMIM05624160612051
HP:0000407HP:0008527Congenital sensorineural hearing impairment1BEAN1 CL E G H146227117210Spinocerebellar ataxia 31117210C1861736OMIM05624160612051
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1BEAN1 CL E G H146227117210Spinocerebellar ataxia 31117210C1861736OMIM05624160612051
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1BEAN1 CL E G H146227117210Spinocerebellar ataxia 31117210C1861736OMIM05624160612051
HP:0000407HP:0008587Mild neurosensory hearing impairment1BEAN1 CL E G H146227117210Spinocerebellar ataxia 31117210C1861736OMIM05624160612051
HP:0000407HP:0008504Moderate sensorineural hearing impairment1BEAN1 CL E G H146227117210Spinocerebellar ataxia 31117210C1861736OMIM05624160612051
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1BEAN1 CL E G H146227117210Spinocerebellar ataxia 31117210C1861736OMIM05624160612051
HP:0000407HP:0011476Profound sensorineural hearing impairment1BEAN1 CL E G H146227117210Spinocerebellar ataxia 31117210C1861736OMIM05624160612051
HP:0000407HP:0000408Progressive sensorineural hearing impairment1BEAN1 CL E G H146227117210Spinocerebellar ataxia 31117210C1861736OMIM05624160612051
HP:0000407HP:0008625Severe sensorineural hearing impairment1BEAN1 CL E G H146227117210Spinocerebellar ataxia 31117210C1861736OMIM05624160612051
HP:0000407HP:0000410Mixed hearing impairment1BMP4 CL E G H652139471ORPHA01971071112262
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1BMP4 CL E G H652139471ORPHA01971071112262
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1BMP4 CL E G H652139471ORPHA01971071112262
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1BMP4 CL E G H652139471ORPHA01971071112262
HP:0000407HP:0008527Congenital sensorineural hearing impairment1BMP4 CL E G H652139471ORPHA01971071112262
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1BMP4 CL E G H652139471ORPHA01971071112262
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1BMP4 CL E G H652139471ORPHA01971071112262
HP:0000407HP:0008587Mild neurosensory hearing impairment1BMP4 CL E G H652139471ORPHA01971071112262
HP:0000407HP:0008504Moderate sensorineural hearing impairment1BMP4 CL E G H652139471ORPHA01971071112262
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1BMP4 CL E G H652139471ORPHA01971071112262
HP:0000407HP:0011476Profound sensorineural hearing impairment1BMP4 CL E G H652139471ORPHA01971071112262
HP:0000407HP:0000408Progressive sensorineural hearing impairment1BMP4 CL E G H652139471ORPHA01971071112262
HP:0000407HP:0008625Severe sensorineural hearing impairment1BMP4 CL E G H652139471ORPHA01971071112262
HP:0000407HP:0000410Mixed hearing impairment1BRAF CL E G H673648ORPHA011821097164757
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1BRAF CL E G H673648ORPHA011821097164757
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1BRAF CL E G H673648ORPHA011821097164757
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1BRAF CL E G H673648ORPHA011821097164757
HP:0000407HP:0008527Congenital sensorineural hearing impairment1BRAF CL E G H673648ORPHA011821097164757
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1BRAF CL E G H673648ORPHA011821097164757
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1BRAF CL E G H673648ORPHA011821097164757
HP:0000407HP:0008587Mild neurosensory hearing impairment1BRAF CL E G H673648ORPHA011821097164757
HP:0000407HP:0008504Moderate sensorineural hearing impairment1BRAF CL E G H673648ORPHA011821097164757
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1BRAF CL E G H673648ORPHA011821097164757
HP:0000407HP:0011476Profound sensorineural hearing impairment1BRAF CL E G H673648ORPHA011821097164757
HP:0000407HP:0000408Progressive sensorineural hearing impairment1BRAF CL E G H673648ORPHA011821097164757
HP:0000407HP:0008625Severe sensorineural hearing impairment1BRAF CL E G H673648ORPHA011821097164757
HP:0000407HP:0000410Mixed hearing impairment1BTRC CL E G H89452440ORPHA01031144603482
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1BTRC CL E G H89452440ORPHA01031144603482
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1BTRC CL E G H89452440ORPHA01031144603482
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1BTRC CL E G H89452440ORPHA01031144603482
HP:0000407HP:0008527Congenital sensorineural hearing impairment1BTRC CL E G H89452440ORPHA01031144603482
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1BTRC CL E G H89452440ORPHA01031144603482
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1BTRC CL E G H89452440ORPHA01031144603482
HP:0000407HP:0008587Mild neurosensory hearing impairment1BTRC CL E G H89452440ORPHA01031144603482
HP:0000407HP:0008504Moderate sensorineural hearing impairment1BTRC CL E G H89452440ORPHA01031144603482
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1BTRC CL E G H89452440ORPHA01031144603482
HP:0000407HP:0011476Profound sensorineural hearing impairment1BTRC CL E G H89452440ORPHA01031144603482
HP:0000407HP:0000408Progressive sensorineural hearing impairment1BTRC CL E G H89452440ORPHA01031144603482
HP:0000407HP:0008625Severe sensorineural hearing impairment1BTRC CL E G H89452440ORPHA01031144603482
HP:0000407HP:0000410Mixed hearing impairment1CACNA1A CL E G H773569ORPHA032481388601011
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CACNA1A CL E G H773569ORPHA032481388601011
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CACNA1A CL E G H773569ORPHA032481388601011
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CACNA1A CL E G H773569ORPHA032481388601011
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CACNA1A CL E G H773569ORPHA032481388601011
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CACNA1A CL E G H773569ORPHA032481388601011
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CACNA1A CL E G H773569ORPHA032481388601011
HP:0000407HP:0008587Mild neurosensory hearing impairment1CACNA1A CL E G H773569ORPHA032481388601011
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CACNA1A CL E G H773569ORPHA032481388601011
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CACNA1A CL E G H773569ORPHA032481388601011
HP:0000407HP:0011476Profound sensorineural hearing impairment1CACNA1A CL E G H773569ORPHA032481388601011
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CACNA1A CL E G H773569ORPHA032481388601011
HP:0000407HP:0008625Severe sensorineural hearing impairment1CACNA1A CL E G H773569ORPHA032481388601011
HP:0000407HP:0000410Mixed hearing impairment1CASK CL E G H8573300422FG syndrome 4300422CN033933OMIM08441497300172
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CASK CL E G H8573300422FG syndrome 4300422CN033933OMIM08441497300172
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CASK CL E G H8573300422FG syndrome 4300422CN033933OMIM08441497300172
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CASK CL E G H8573300422FG syndrome 4300422CN033933OMIM08441497300172
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CASK CL E G H8573300422FG syndrome 4300422CN033933OMIM08441497300172
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CASK CL E G H8573300422FG syndrome 4300422CN033933OMIM08441497300172
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CASK CL E G H8573300422FG syndrome 4300422CN033933OMIM08441497300172
HP:0000407HP:0008587Mild neurosensory hearing impairment1CASK CL E G H8573300422FG syndrome 4300422CN033933OMIM08441497300172
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CASK CL E G H8573300422FG syndrome 4300422CN033933OMIM08441497300172
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CASK CL E G H8573300422FG syndrome 4300422CN033933OMIM08441497300172
HP:0000407HP:0011476Profound sensorineural hearing impairment1CASK CL E G H8573300422FG syndrome 4300422CN033933OMIM08441497300172
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CASK CL E G H8573300422FG syndrome 4300422CN033933OMIM08441497300172
HP:0000407HP:0008625Severe sensorineural hearing impairment1CASK CL E G H8573300422FG syndrome 4300422CN033933OMIM08441497300172
HP:0000407HP:0000410Mixed hearing impairment1CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM08441497300172
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM08441497300172
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM08441497300172
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM08441497300172
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM08441497300172
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM08441497300172
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM08441497300172
HP:0000407HP:0008587Mild neurosensory hearing impairment1CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM08441497300172
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM08441497300172
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM08441497300172
HP:0000407HP:0011476Profound sensorineural hearing impairment1CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM08441497300172
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM08441497300172
HP:0000407HP:0008625Severe sensorineural hearing impairment1CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM08441497300172
HP:0000407HP:0000410Mixed hearing impairment1CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA028126821616031
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA028126821616031
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA028126821616031
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA028126821616031
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA028126821616031
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA028126821616031
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA028126821616031
HP:0000407HP:0008587Mild neurosensory hearing impairment1CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA028126821616031
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA028126821616031
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA028126821616031
HP:0000407HP:0011476Profound sensorineural hearing impairment1CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA028126821616031
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA028126821616031
HP:0000407HP:0008625Severe sensorineural hearing impairment1CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA028126821616031
HP:0000407HP:0000410Mixed hearing impairment1CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM0881736116952
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM0881736116952
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM0881736116952
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM0881736116952
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM0881736116952
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM0881736116952
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM0881736116952
HP:0000407HP:0008587Mild neurosensory hearing impairment1CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM0881736116952
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM0881736116952
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM0881736116952
HP:0000407HP:0011476Profound sensorineural hearing impairment1CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM0881736116952
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM0881736116952
HP:0000407HP:0008625Severe sensorineural hearing impairment1CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM0881736116952
HP:0000407HP:0000410Mixed hearing impairment1CDK5RAP2 CL E G H55755604804Primary autosomal recessive microcephaly 3604804C1858108OMIM071218672608201
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CDK5RAP2 CL E G H55755604804Primary autosomal recessive microcephaly 3604804C1858108OMIM071218672608201
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CDK5RAP2 CL E G H55755604804Primary autosomal recessive microcephaly 3604804C1858108OMIM071218672608201
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CDK5RAP2 CL E G H55755604804Primary autosomal recessive microcephaly 3604804C1858108OMIM071218672608201
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CDK5RAP2 CL E G H55755604804Primary autosomal recessive microcephaly 3604804C1858108OMIM071218672608201
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CDK5RAP2 CL E G H55755604804Primary autosomal recessive microcephaly 3604804C1858108OMIM071218672608201
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CDK5RAP2 CL E G H55755604804Primary autosomal recessive microcephaly 3604804C1858108OMIM071218672608201
HP:0000407HP:0008587Mild neurosensory hearing impairment1CDK5RAP2 CL E G H55755604804Primary autosomal recessive microcephaly 3604804C1858108OMIM071218672608201
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CDK5RAP2 CL E G H55755604804Primary autosomal recessive microcephaly 3604804C1858108OMIM071218672608201
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CDK5RAP2 CL E G H55755604804Primary autosomal recessive microcephaly 3604804C1858108OMIM071218672608201
HP:0000407HP:0011476Profound sensorineural hearing impairment1CDK5RAP2 CL E G H55755604804Primary autosomal recessive microcephaly 3604804C1858108OMIM071218672608201
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CDK5RAP2 CL E G H55755604804Primary autosomal recessive microcephaly 3604804C1858108OMIM071218672608201
HP:0000407HP:0008625Severe sensorineural hearing impairment1CDK5RAP2 CL E G H55755604804Primary autosomal recessive microcephaly 3604804C1858108OMIM071218672608201
HP:0000407HP:0000410Mixed hearing impairment1CHAT CL E G H110398914ORPHA09841912118490
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CHAT CL E G H110398914ORPHA09841912118490
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CHAT CL E G H110398914ORPHA09841912118490
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CHAT CL E G H110398914ORPHA09841912118490
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CHAT CL E G H110398914ORPHA09841912118490
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CHAT CL E G H110398914ORPHA09841912118490
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CHAT CL E G H110398914ORPHA09841912118490
HP:0000407HP:0008587Mild neurosensory hearing impairment1CHAT CL E G H110398914ORPHA09841912118490
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CHAT CL E G H110398914ORPHA09841912118490
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CHAT CL E G H110398914ORPHA09841912118490
HP:0000407HP:0011476Profound sensorineural hearing impairment1CHAT CL E G H110398914ORPHA09841912118490
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CHAT CL E G H110398914ORPHA09841912118490
HP:0000407HP:0008625Severe sensorineural hearing impairment1CHAT CL E G H110398914ORPHA09841912118490
HP:0000407HP:0000410Mixed hearing impairment1CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM029715559615903
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM029715559615903
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM029715559615903
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM029715559615903
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM029715559615903
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM029715559615903
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM029715559615903
HP:0000407HP:0008587Mild neurosensory hearing impairment1CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM029715559615903
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM029715559615903
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM029715559615903
HP:0000407HP:0011476Profound sensorineural hearing impairment1CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM029715559615903
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM029715559615903
HP:0000407HP:0008625Severe sensorineural hearing impairment1CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM029715559615903
HP:0000407HP:0000410Mixed hearing impairment1CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0293020626608892
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0293020626608892
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0293020626608892
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0293020626608892
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0293020626608892
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0293020626608892
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0293020626608892
HP:0000407HP:0008587Mild neurosensory hearing impairment1CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0293020626608892
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0293020626608892
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0293020626608892
HP:0000407HP:0011476Profound sensorineural hearing impairment1CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0293020626608892
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0293020626608892
HP:0000407HP:0008625Severe sensorineural hearing impairment1CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0293020626608892
HP:0000407HP:0000410Mixed hearing impairment1COL13A1 CL E G H130598914ORPHA05592190120350
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1COL13A1 CL E G H130598914ORPHA05592190120350
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1COL13A1 CL E G H130598914ORPHA05592190120350
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1COL13A1 CL E G H130598914ORPHA05592190120350
HP:0000407HP:0008527Congenital sensorineural hearing impairment1COL13A1 CL E G H130598914ORPHA05592190120350
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1COL13A1 CL E G H130598914ORPHA05592190120350
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1COL13A1 CL E G H130598914ORPHA05592190120350
HP:0000407HP:0008587Mild neurosensory hearing impairment1COL13A1 CL E G H130598914ORPHA05592190120350
HP:0000407HP:0008504Moderate sensorineural hearing impairment1COL13A1 CL E G H130598914ORPHA05592190120350
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1COL13A1 CL E G H130598914ORPHA05592190120350
HP:0000407HP:0011476Profound sensorineural hearing impairment1COL13A1 CL E G H130598914ORPHA05592190120350
HP:0000407HP:0000408Progressive sensorineural hearing impairment1COL13A1 CL E G H130598914ORPHA05592190120350
HP:0000407HP:0008625Severe sensorineural hearing impairment1COL13A1 CL E G H130598914ORPHA05592190120350
HP:0000407HP:0000410Mixed hearing impairment1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM02062309605032
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM02062309605032
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM02062309605032
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM02062309605032
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM02062309605032
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM02062309605032
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM02062309605032
HP:0000407HP:0008587Mild neurosensory hearing impairment1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM02062309605032
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM02062309605032
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM02062309605032
HP:0000407HP:0011476Profound sensorineural hearing impairment1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM02062309605032
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM02062309605032
HP:0000407HP:0008625Severe sensorineural hearing impairment1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM02062309605032
HP:0000407HP:0000410Mixed hearing impairment1CRKL CL E G H1399261330ORPHA04342363602007
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CRKL CL E G H1399261330ORPHA04342363602007
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CRKL CL E G H1399261330ORPHA04342363602007
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CRKL CL E G H1399261330ORPHA04342363602007
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CRKL CL E G H1399261330ORPHA04342363602007
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CRKL CL E G H1399261330ORPHA04342363602007
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CRKL CL E G H1399261330ORPHA04342363602007
HP:0000407HP:0008587Mild neurosensory hearing impairment1CRKL CL E G H1399261330ORPHA04342363602007
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CRKL CL E G H1399261330ORPHA04342363602007
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CRKL CL E G H1399261330ORPHA04342363602007
HP:0000407HP:0011476Profound sensorineural hearing impairment1CRKL CL E G H1399261330ORPHA04342363602007
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CRKL CL E G H1399261330ORPHA04342363602007
HP:0000407HP:0008625Severe sensorineural hearing impairment1CRKL CL E G H1399261330ORPHA04342363602007
HP:0000407HP:0000410Mixed hearing impairment1CRYAB CL E G H1410154Sandhaus Ben-Ami syndromeORPHA02732389123590
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CRYAB CL E G H1410154Sandhaus Ben-Ami syndromeORPHA02732389123590
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CRYAB CL E G H1410154Sandhaus Ben-Ami syndromeORPHA02732389123590
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CRYAB CL E G H1410154Sandhaus Ben-Ami syndromeORPHA02732389123590
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CRYAB CL E G H1410154Sandhaus Ben-Ami syndromeORPHA02732389123590
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CRYAB CL E G H1410154Sandhaus Ben-Ami syndromeORPHA02732389123590
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CRYAB CL E G H1410154Sandhaus Ben-Ami syndromeORPHA02732389123590
HP:0000407HP:0008587Mild neurosensory hearing impairment1CRYAB CL E G H1410154Sandhaus Ben-Ami syndromeORPHA02732389123590
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CRYAB CL E G H1410154Sandhaus Ben-Ami syndromeORPHA02732389123590
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CRYAB CL E G H1410154Sandhaus Ben-Ami syndromeORPHA02732389123590
HP:0000407HP:0011476Profound sensorineural hearing impairment1CRYAB CL E G H1410154Sandhaus Ben-Ami syndromeORPHA02732389123590
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CRYAB CL E G H1410154Sandhaus Ben-Ami syndromeORPHA02732389123590
HP:0000407HP:0008625Severe sensorineural hearing impairment1CRYAB CL E G H1410154Sandhaus Ben-Ami syndromeORPHA02732389123590
HP:0000407HP:0000410Mixed hearing impairment1CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM0107426193611654
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM0107426193611654
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM0107426193611654
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM0107426193611654
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM0107426193611654
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM0107426193611654
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM0107426193611654
HP:0000407HP:0008587Mild neurosensory hearing impairment1CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM0107426193611654
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM0107426193611654
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM0107426193611654
HP:0000407HP:0011476Profound sensorineural hearing impairment1CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM0107426193611654
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM0107426193611654
HP:0000407HP:0008625Severe sensorineural hearing impairment1CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM0107426193611654
HP:0000407HP:0000410Mixed hearing impairment1CSRP3 CL E G H8048154Sandhaus Ben-Ami syndromeORPHA04072472600824
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CSRP3 CL E G H8048154Sandhaus Ben-Ami syndromeORPHA04072472600824
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CSRP3 CL E G H8048154Sandhaus Ben-Ami syndromeORPHA04072472600824
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CSRP3 CL E G H8048154Sandhaus Ben-Ami syndromeORPHA04072472600824
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CSRP3 CL E G H8048154Sandhaus Ben-Ami syndromeORPHA04072472600824
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CSRP3 CL E G H8048154Sandhaus Ben-Ami syndromeORPHA04072472600824
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CSRP3 CL E G H8048154Sandhaus Ben-Ami syndromeORPHA04072472600824
HP:0000407HP:0008587Mild neurosensory hearing impairment1CSRP3 CL E G H8048154Sandhaus Ben-Ami syndromeORPHA04072472600824
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CSRP3 CL E G H8048154Sandhaus Ben-Ami syndromeORPHA04072472600824
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CSRP3 CL E G H8048154Sandhaus Ben-Ami syndromeORPHA04072472600824
HP:0000407HP:0011476Profound sensorineural hearing impairment1CSRP3 CL E G H8048154Sandhaus Ben-Ami syndromeORPHA04072472600824
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CSRP3 CL E G H8048154Sandhaus Ben-Ami syndromeORPHA04072472600824
HP:0000407HP:0008625Severe sensorineural hearing impairment1CSRP3 CL E G H8048154Sandhaus Ben-Ami syndromeORPHA04072472600824
HP:0000407HP:0000410Mixed hearing impairment1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM03522494602618
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM03522494602618
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM03522494602618
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM03522494602618
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM03522494602618
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM03522494602618
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM03522494602618
HP:0000407HP:0008587Mild neurosensory hearing impairment1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM03522494602618
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM03522494602618
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM03522494602618
HP:0000407HP:0011476Profound sensorineural hearing impairment1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM03522494602618
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM03522494602618
HP:0000407HP:0008625Severe sensorineural hearing impairment1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM03522494602618
HP:0000407HP:0000410Mixed hearing impairment1CTLA4 CL E G H1493900ORPHA02322505123890
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CTLA4 CL E G H1493900ORPHA02322505123890
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CTLA4 CL E G H1493900ORPHA02322505123890
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CTLA4 CL E G H1493900ORPHA02322505123890
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CTLA4 CL E G H1493900ORPHA02322505123890
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CTLA4 CL E G H1493900ORPHA02322505123890
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CTLA4 CL E G H1493900ORPHA02322505123890
HP:0000407HP:0008587Mild neurosensory hearing impairment1CTLA4 CL E G H1493900ORPHA02322505123890
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CTLA4 CL E G H1493900ORPHA02322505123890
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CTLA4 CL E G H1493900ORPHA02322505123890
HP:0000407HP:0011476Profound sensorineural hearing impairment1CTLA4 CL E G H1493900ORPHA02322505123890
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CTLA4 CL E G H1493900ORPHA02322505123890
HP:0000407HP:0008625Severe sensorineural hearing impairment1CTLA4 CL E G H1493900ORPHA02322505123890
HP:0000407HP:0000410Mixed hearing impairment1CYP7B1 CL E G H9420100986ORPHA04152652603711
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CYP7B1 CL E G H9420100986ORPHA04152652603711
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CYP7B1 CL E G H9420100986ORPHA04152652603711
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CYP7B1 CL E G H9420100986ORPHA04152652603711
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CYP7B1 CL E G H9420100986ORPHA04152652603711
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CYP7B1 CL E G H9420100986ORPHA04152652603711
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CYP7B1 CL E G H9420100986ORPHA04152652603711
HP:0000407HP:0008587Mild neurosensory hearing impairment1CYP7B1 CL E G H9420100986ORPHA04152652603711
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CYP7B1 CL E G H9420100986ORPHA04152652603711
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CYP7B1 CL E G H9420100986ORPHA04152652603711
HP:0000407HP:0011476Profound sensorineural hearing impairment1CYP7B1 CL E G H9420100986ORPHA04152652603711
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CYP7B1 CL E G H9420100986ORPHA04152652603711
HP:0000407HP:0008625Severe sensorineural hearing impairment1CYP7B1 CL E G H9420100986ORPHA04152652603711
HP:0000407HP:0000410Mixed hearing impairment1CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM04152652603711
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM04152652603711
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM04152652603711
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM04152652603711
HP:0000407HP:0008527Congenital sensorineural hearing impairment1CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM04152652603711
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM04152652603711
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM04152652603711
HP:0000407HP:0008587Mild neurosensory hearing impairment1CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM04152652603711
HP:0000407HP:0008504Moderate sensorineural hearing impairment1CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM04152652603711
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM04152652603711
HP:0000407HP:0011476Profound sensorineural hearing impairment1CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM04152652603711
HP:0000407HP:0000408Progressive sensorineural hearing impairment1CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM04152652603711
HP:0000407HP:0008625Severe sensorineural hearing impairment1CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM04152652603711
HP:0000407HP:0000410Mixed hearing impairment1DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA02592701120470
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA02592701120470
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA02592701120470
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA02592701120470
HP:0000407HP:0008527Congenital sensorineural hearing impairment1DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA02592701120470
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA02592701120470
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA02592701120470
HP:0000407HP:0008587Mild neurosensory hearing impairment1DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA02592701120470
HP:0000407HP:0008504Moderate sensorineural hearing impairment1DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA02592701120470
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA02592701120470
HP:0000407HP:0011476Profound sensorineural hearing impairment1DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA02592701120470
HP:0000407HP:0000408Progressive sensorineural hearing impairment1DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA02592701120470
HP:0000407HP:0008625Severe sensorineural hearing impairment1DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA02592701120470
HP:0000407HP:0000410Mixed hearing impairment1DES CL E G H1674154Sandhaus Ben-Ami syndromeORPHA09762770125660
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1DES CL E G H1674154Sandhaus Ben-Ami syndromeORPHA09762770125660
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1DES CL E G H1674154Sandhaus Ben-Ami syndromeORPHA09762770125660
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1DES CL E G H1674154Sandhaus Ben-Ami syndromeORPHA09762770125660
HP:0000407HP:0008527Congenital sensorineural hearing impairment1DES CL E G H1674154Sandhaus Ben-Ami syndromeORPHA09762770125660
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1DES CL E G H1674154Sandhaus Ben-Ami syndromeORPHA09762770125660
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1DES CL E G H1674154Sandhaus Ben-Ami syndromeORPHA09762770125660
HP:0000407HP:0008587Mild neurosensory hearing impairment1DES CL E G H1674154Sandhaus Ben-Ami syndromeORPHA09762770125660
HP:0000407HP:0008504Moderate sensorineural hearing impairment1DES CL E G H1674154Sandhaus Ben-Ami syndromeORPHA09762770125660
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1DES CL E G H1674154Sandhaus Ben-Ami syndromeORPHA09762770125660
HP:0000407HP:0011476Profound sensorineural hearing impairment1DES CL E G H1674154Sandhaus Ben-Ami syndromeORPHA09762770125660
HP:0000407HP:0000408Progressive sensorineural hearing impairment1DES CL E G H1674154Sandhaus Ben-Ami syndromeORPHA09762770125660
HP:0000407HP:0008625Severe sensorineural hearing impairment1DES CL E G H1674154Sandhaus Ben-Ami syndromeORPHA09762770125660
HP:0000407HP:0000410Mixed hearing impairment1DHCR7 CL E G H1717818ORPHA07792860602858
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1DHCR7 CL E G H1717818ORPHA07792860602858
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1DHCR7 CL E G H1717818ORPHA07792860602858
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1DHCR7 CL E G H1717818ORPHA07792860602858
HP:0000407HP:0008527Congenital sensorineural hearing impairment1DHCR7 CL E G H1717818ORPHA07792860602858
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1DHCR7 CL E G H1717818ORPHA07792860602858
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1DHCR7 CL E G H1717818ORPHA07792860602858
HP:0000407HP:0008587Mild neurosensory hearing impairment1DHCR7 CL E G H1717818ORPHA07792860602858
HP:0000407HP:0008504Moderate sensorineural hearing impairment1DHCR7 CL E G H1717818ORPHA07792860602858
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1DHCR7 CL E G H1717818ORPHA07792860602858
HP:0000407HP:0011476Profound sensorineural hearing impairment1DHCR7 CL E G H1717818ORPHA07792860602858
HP:0000407HP:0000408Progressive sensorineural hearing impairment1DHCR7 CL E G H1717818ORPHA07792860602858
HP:0000407HP:0008625Severe sensorineural hearing impairment1DHCR7 CL E G H1717818ORPHA07792860602858
HP:0000407HP:0000410Mixed hearing impairment1DLX5 CL E G H17492440ORPHA0582918600028
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1DLX5 CL E G H17492440ORPHA0582918600028
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1DLX5 CL E G H17492440ORPHA0582918600028
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1DLX5 CL E G H17492440ORPHA0582918600028
HP:0000407HP:0008527Congenital sensorineural hearing impairment1DLX5 CL E G H17492440ORPHA0582918600028
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1DLX5 CL E G H17492440ORPHA0582918600028
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1DLX5 CL E G H17492440ORPHA0582918600028
HP:0000407HP:0008587Mild neurosensory hearing impairment1DLX5 CL E G H17492440ORPHA0582918600028
HP:0000407HP:0008504Moderate sensorineural hearing impairment1DLX5 CL E G H17492440ORPHA0582918600028
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1DLX5 CL E G H17492440ORPHA0582918600028
HP:0000407HP:0011476Profound sensorineural hearing impairment1DLX5 CL E G H17492440ORPHA0582918600028
HP:0000407HP:0000408Progressive sensorineural hearing impairment1DLX5 CL E G H17492440ORPHA0582918600028
HP:0000407HP:0008625Severe sensorineural hearing impairment1DLX5 CL E G H17492440ORPHA0582918600028
HP:0000407HP:0000410Mixed hearing impairment1DLX6 CL E G H17502440ORPHA0742919600030
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1DLX6 CL E G H17502440ORPHA0742919600030
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1DLX6 CL E G H17502440ORPHA0742919600030
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1DLX6 CL E G H17502440ORPHA0742919600030
HP:0000407HP:0008527Congenital sensorineural hearing impairment1DLX6 CL E G H17502440ORPHA0742919600030
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1DLX6 CL E G H17502440ORPHA0742919600030
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1DLX6 CL E G H17502440ORPHA0742919600030
HP:0000407HP:0008587Mild neurosensory hearing impairment1DLX6 CL E G H17502440ORPHA0742919600030
HP:0000407HP:0008504Moderate sensorineural hearing impairment1DLX6 CL E G H17502440ORPHA0742919600030
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1DLX6 CL E G H17502440ORPHA0742919600030
HP:0000407HP:0011476Profound sensorineural hearing impairment1DLX6 CL E G H17502440ORPHA0742919600030
HP:0000407HP:0000408Progressive sensorineural hearing impairment1DLX6 CL E G H17502440ORPHA0742919600030
HP:0000407HP:0008625Severe sensorineural hearing impairment1DLX6 CL E G H17502440ORPHA0742919600030
HP:0000407HP:0000410Mixed hearing impairment1DMD CL E G H1756154Sandhaus Ben-Ami syndromeORPHA081842928300377
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1DMD CL E G H1756154Sandhaus Ben-Ami syndromeORPHA081842928300377
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1DMD CL E G H1756154Sandhaus Ben-Ami syndromeORPHA081842928300377
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1DMD CL E G H1756154Sandhaus Ben-Ami syndromeORPHA081842928300377
HP:0000407HP:0008527Congenital sensorineural hearing impairment1DMD CL E G H1756154Sandhaus Ben-Ami syndromeORPHA081842928300377
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1DMD CL E G H1756154Sandhaus Ben-Ami syndromeORPHA081842928300377
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1DMD CL E G H1756154Sandhaus Ben-Ami syndromeORPHA081842928300377
HP:0000407HP:0008587Mild neurosensory hearing impairment1DMD CL E G H1756154Sandhaus Ben-Ami syndromeORPHA081842928300377
HP:0000407HP:0008504Moderate sensorineural hearing impairment1DMD CL E G H1756154Sandhaus Ben-Ami syndromeORPHA081842928300377
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1DMD CL E G H1756154Sandhaus Ben-Ami syndromeORPHA081842928300377
HP:0000407HP:0011476Profound sensorineural hearing impairment1DMD CL E G H1756154Sandhaus Ben-Ami syndromeORPHA081842928300377
HP:0000407HP:0000408Progressive sensorineural hearing impairment1DMD CL E G H1756154Sandhaus Ben-Ami syndromeORPHA081842928300377
HP:0000407HP:0008625Severe sensorineural hearing impairment1DMD CL E G H1756154Sandhaus Ben-Ami syndromeORPHA081842928300377
HP:0000407HP:0000410Mixed hearing impairment1DNASE1L3 CL E G H177636412ORPHA02002959602244
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1DNASE1L3 CL E G H177636412ORPHA02002959602244
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1DNASE1L3 CL E G H177636412ORPHA02002959602244
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1DNASE1L3 CL E G H177636412ORPHA02002959602244
HP:0000407HP:0008527Congenital sensorineural hearing impairment1DNASE1L3 CL E G H177636412ORPHA02002959602244
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1DNASE1L3 CL E G H177636412ORPHA02002959602244
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1DNASE1L3 CL E G H177636412ORPHA02002959602244
HP:0000407HP:0008587Mild neurosensory hearing impairment1DNASE1L3 CL E G H177636412ORPHA02002959602244
HP:0000407HP:0008504Moderate sensorineural hearing impairment1DNASE1L3 CL E G H177636412ORPHA02002959602244
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1DNASE1L3 CL E G H177636412ORPHA02002959602244
HP:0000407HP:0011476Profound sensorineural hearing impairment1DNASE1L3 CL E G H177636412ORPHA02002959602244
HP:0000407HP:0000408Progressive sensorineural hearing impairment1DNASE1L3 CL E G H177636412ORPHA02002959602244
HP:0000407HP:0008625Severe sensorineural hearing impairment1DNASE1L3 CL E G H177636412ORPHA02002959602244
HP:0000407HP:0000410Mixed hearing impairment1DOLK CL E G H22845154Sandhaus Ben-Ami syndromeORPHA052123406610746
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1DOLK CL E G H22845154Sandhaus Ben-Ami syndromeORPHA052123406610746
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1DOLK CL E G H22845154Sandhaus Ben-Ami syndromeORPHA052123406610746
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1DOLK CL E G H22845154Sandhaus Ben-Ami syndromeORPHA052123406610746
HP:0000407HP:0008527Congenital sensorineural hearing impairment1DOLK CL E G H22845154Sandhaus Ben-Ami syndromeORPHA052123406610746
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1DOLK CL E G H22845154Sandhaus Ben-Ami syndromeORPHA052123406610746
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1DOLK CL E G H22845154Sandhaus Ben-Ami syndromeORPHA052123406610746
HP:0000407HP:0008587Mild neurosensory hearing impairment1DOLK CL E G H22845154Sandhaus Ben-Ami syndromeORPHA052123406610746
HP:0000407HP:0008504Moderate sensorineural hearing impairment1DOLK CL E G H22845154Sandhaus Ben-Ami syndromeORPHA052123406610746
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1DOLK CL E G H22845154Sandhaus Ben-Ami syndromeORPHA052123406610746
HP:0000407HP:0011476Profound sensorineural hearing impairment1DOLK CL E G H22845154Sandhaus Ben-Ami syndromeORPHA052123406610746
HP:0000407HP:0000408Progressive sensorineural hearing impairment1DOLK CL E G H22845154Sandhaus Ben-Ami syndromeORPHA052123406610746
HP:0000407HP:0008625Severe sensorineural hearing impairment1DOLK CL E G H22845154Sandhaus Ben-Ami syndromeORPHA052123406610746
HP:0000407HP:0000410Mixed hearing impairment1DSG2 CL E G H1829154Sandhaus Ben-Ami syndromeORPHA015703049125671
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1DSG2 CL E G H1829154Sandhaus Ben-Ami syndromeORPHA015703049125671
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1DSG2 CL E G H1829154Sandhaus Ben-Ami syndromeORPHA015703049125671
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1DSG2 CL E G H1829154Sandhaus Ben-Ami syndromeORPHA015703049125671
HP:0000407HP:0008527Congenital sensorineural hearing impairment1DSG2 CL E G H1829154Sandhaus Ben-Ami syndromeORPHA015703049125671
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1DSG2 CL E G H1829154Sandhaus Ben-Ami syndromeORPHA015703049125671
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1DSG2 CL E G H1829154Sandhaus Ben-Ami syndromeORPHA015703049125671
HP:0000407HP:0008587Mild neurosensory hearing impairment1DSG2 CL E G H1829154Sandhaus Ben-Ami syndromeORPHA015703049125671
HP:0000407HP:0008504Moderate sensorineural hearing impairment1DSG2 CL E G H1829154Sandhaus Ben-Ami syndromeORPHA015703049125671
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1DSG2 CL E G H1829154Sandhaus Ben-Ami syndromeORPHA015703049125671
HP:0000407HP:0011476Profound sensorineural hearing impairment1DSG2 CL E G H1829154Sandhaus Ben-Ami syndromeORPHA015703049125671
HP:0000407HP:0000408Progressive sensorineural hearing impairment1DSG2 CL E G H1829154Sandhaus Ben-Ami syndromeORPHA015703049125671
HP:0000407HP:0008625Severe sensorineural hearing impairment1DSG2 CL E G H1829154Sandhaus Ben-Ami syndromeORPHA015703049125671
HP:0000407HP:0000410Mixed hearing impairment1DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA0663072602748
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA0663072602748
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA0663072602748
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA0663072602748
HP:0000407HP:0008527Congenital sensorineural hearing impairment1DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA0663072602748
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA0663072602748
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA0663072602748
HP:0000407HP:0008587Mild neurosensory hearing impairment1DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA0663072602748
HP:0000407HP:0008504Moderate sensorineural hearing impairment1DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA0663072602748
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA0663072602748
HP:0000407HP:0011476Profound sensorineural hearing impairment1DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA0663072602748
HP:0000407HP:0000408Progressive sensorineural hearing impairment1DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA0663072602748
HP:0000407HP:0008625Severe sensorineural hearing impairment1DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA0663072602748
HP:0000407HP:0000410Mixed hearing impairment1DVL1 CL E G H1855616331Robinow syndrome, autosomal dominant 2616331C4225363OMIM06663084601365
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1DVL1 CL E G H1855616331Robinow syndrome, autosomal dominant 2616331C4225363OMIM06663084601365
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1DVL1 CL E G H1855616331Robinow syndrome, autosomal dominant 2616331C4225363OMIM06663084601365
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1DVL1 CL E G H1855616331Robinow syndrome, autosomal dominant 2616331C4225363OMIM06663084601365
HP:0000407HP:0008527Congenital sensorineural hearing impairment1DVL1 CL E G H1855616331Robinow syndrome, autosomal dominant 2616331C4225363OMIM06663084601365
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1DVL1 CL E G H1855616331Robinow syndrome, autosomal dominant 2616331C4225363OMIM06663084601365
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1DVL1 CL E G H1855616331Robinow syndrome, autosomal dominant 2616331C4225363OMIM06663084601365
HP:0000407HP:0008587Mild neurosensory hearing impairment1DVL1 CL E G H1855616331Robinow syndrome, autosomal dominant 2616331C4225363OMIM06663084601365
HP:0000407HP:0008504Moderate sensorineural hearing impairment1DVL1 CL E G H1855616331Robinow syndrome, autosomal dominant 2616331C4225363OMIM06663084601365
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1DVL1 CL E G H1855616331Robinow syndrome, autosomal dominant 2616331C4225363OMIM06663084601365
HP:0000407HP:0011476Profound sensorineural hearing impairment1DVL1 CL E G H1855616331Robinow syndrome, autosomal dominant 2616331C4225363OMIM06663084601365
HP:0000407HP:0000408Progressive sensorineural hearing impairment1DVL1 CL E G H1855616331Robinow syndrome, autosomal dominant 2616331C4225363OMIM06663084601365
HP:0000407HP:0008625Severe sensorineural hearing impairment1DVL1 CL E G H1855616331Robinow syndrome, autosomal dominant 2616331C4225363OMIM06663084601365
HP:0000407HP:0000410Mixed hearing impairment1EBP CL E G H1068235173ORPHA03173133300205
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1EBP CL E G H1068235173ORPHA03173133300205
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1EBP CL E G H1068235173ORPHA03173133300205
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1EBP CL E G H1068235173ORPHA03173133300205
HP:0000407HP:0008527Congenital sensorineural hearing impairment1EBP CL E G H1068235173ORPHA03173133300205
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1EBP CL E G H1068235173ORPHA03173133300205
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1EBP CL E G H1068235173ORPHA03173133300205
HP:0000407HP:0008587Mild neurosensory hearing impairment1EBP CL E G H1068235173ORPHA03173133300205
HP:0000407HP:0008504Moderate sensorineural hearing impairment1EBP CL E G H1068235173ORPHA03173133300205
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1EBP CL E G H1068235173ORPHA03173133300205
HP:0000407HP:0011476Profound sensorineural hearing impairment1EBP CL E G H1068235173ORPHA03173133300205
HP:0000407HP:0000408Progressive sensorineural hearing impairment1EBP CL E G H1068235173ORPHA03173133300205
HP:0000407HP:0008625Severe sensorineural hearing impairment1EBP CL E G H1068235173ORPHA03173133300205
HP:0000407HP:0000410Mixed hearing impairment1ECE1 CL E G H1889388Hirschsprung diseaseC0019569ORPHA0753146600423
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ECE1 CL E G H1889388Hirschsprung diseaseC0019569ORPHA0753146600423
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ECE1 CL E G H1889388Hirschsprung diseaseC0019569ORPHA0753146600423
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ECE1 CL E G H1889388Hirschsprung diseaseC0019569ORPHA0753146600423
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ECE1 CL E G H1889388Hirschsprung diseaseC0019569ORPHA0753146600423
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ECE1 CL E G H1889388Hirschsprung diseaseC0019569ORPHA0753146600423
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ECE1 CL E G H1889388Hirschsprung diseaseC0019569ORPHA0753146600423
HP:0000407HP:0008587Mild neurosensory hearing impairment1ECE1 CL E G H1889388Hirschsprung diseaseC0019569ORPHA0753146600423
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ECE1 CL E G H1889388Hirschsprung diseaseC0019569ORPHA0753146600423
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ECE1 CL E G H1889388Hirschsprung diseaseC0019569ORPHA0753146600423
HP:0000407HP:0011476Profound sensorineural hearing impairment1ECE1 CL E G H1889388Hirschsprung diseaseC0019569ORPHA0753146600423
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ECE1 CL E G H1889388Hirschsprung diseaseC0019569ORPHA0753146600423
HP:0000407HP:0008625Severe sensorineural hearing impairment1ECE1 CL E G H1889388Hirschsprung diseaseC0019569ORPHA0753146600423
HP:0000407HP:0000410Mixed hearing impairment1EDC3 CL E G H80153616460Mental retardation, autosomal recessive 50616460C4225319OMIM06726114609842
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1EDC3 CL E G H80153616460Mental retardation, autosomal recessive 50616460C4225319OMIM06726114609842
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1EDC3 CL E G H80153616460Mental retardation, autosomal recessive 50616460C4225319OMIM06726114609842
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1EDC3 CL E G H80153616460Mental retardation, autosomal recessive 50616460C4225319OMIM06726114609842
HP:0000407HP:0008527Congenital sensorineural hearing impairment1EDC3 CL E G H80153616460Mental retardation, autosomal recessive 50616460C4225319OMIM06726114609842
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1EDC3 CL E G H80153616460Mental retardation, autosomal recessive 50616460C4225319OMIM06726114609842
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1EDC3 CL E G H80153616460Mental retardation, autosomal recessive 50616460C4225319OMIM06726114609842
HP:0000407HP:0008587Mild neurosensory hearing impairment1EDC3 CL E G H80153616460Mental retardation, autosomal recessive 50616460C4225319OMIM06726114609842
HP:0000407HP:0008504Moderate sensorineural hearing impairment1EDC3 CL E G H80153616460Mental retardation, autosomal recessive 50616460C4225319OMIM06726114609842
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1EDC3 CL E G H80153616460Mental retardation, autosomal recessive 50616460C4225319OMIM06726114609842
HP:0000407HP:0011476Profound sensorineural hearing impairment1EDC3 CL E G H80153616460Mental retardation, autosomal recessive 50616460C4225319OMIM06726114609842
HP:0000407HP:0000408Progressive sensorineural hearing impairment1EDC3 CL E G H80153616460Mental retardation, autosomal recessive 50616460C4225319OMIM06726114609842
HP:0000407HP:0008625Severe sensorineural hearing impairment1EDC3 CL E G H80153616460Mental retardation, autosomal recessive 50616460C4225319OMIM06726114609842
HP:0000407HP:0000410Mixed hearing impairment1EDN3 CL E G H1908388Hirschsprung diseaseC0019569ORPHA01703178131242
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1EDN3 CL E G H1908388Hirschsprung diseaseC0019569ORPHA01703178131242
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1EDN3 CL E G H1908388Hirschsprung diseaseC0019569ORPHA01703178131242
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1EDN3 CL E G H1908388Hirschsprung diseaseC0019569ORPHA01703178131242
HP:0000407HP:0008527Congenital sensorineural hearing impairment1EDN3 CL E G H1908388Hirschsprung diseaseC0019569ORPHA01703178131242
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1EDN3 CL E G H1908388Hirschsprung diseaseC0019569ORPHA01703178131242
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1EDN3 CL E G H1908388Hirschsprung diseaseC0019569ORPHA01703178131242
HP:0000407HP:0008587Mild neurosensory hearing impairment1EDN3 CL E G H1908388Hirschsprung diseaseC0019569ORPHA01703178131242
HP:0000407HP:0008504Moderate sensorineural hearing impairment1EDN3 CL E G H1908388Hirschsprung diseaseC0019569ORPHA01703178131242
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1EDN3 CL E G H1908388Hirschsprung diseaseC0019569ORPHA01703178131242
HP:0000407HP:0011476Profound sensorineural hearing impairment1EDN3 CL E G H1908388Hirschsprung diseaseC0019569ORPHA01703178131242
HP:0000407HP:0000408Progressive sensorineural hearing impairment1EDN3 CL E G H1908388Hirschsprung diseaseC0019569ORPHA01703178131242
HP:0000407HP:0008625Severe sensorineural hearing impairment1EDN3 CL E G H1908388Hirschsprung diseaseC0019569ORPHA01703178131242
HP:0000407HP:0000410Mixed hearing impairment1EDNRB CL E G H1910388Hirschsprung diseaseC0019569ORPHA03163180131244
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1EDNRB CL E G H1910388Hirschsprung diseaseC0019569ORPHA03163180131244
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1EDNRB CL E G H1910388Hirschsprung diseaseC0019569ORPHA03163180131244
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1EDNRB CL E G H1910388Hirschsprung diseaseC0019569ORPHA03163180131244
HP:0000407HP:0008527Congenital sensorineural hearing impairment1EDNRB CL E G H1910388Hirschsprung diseaseC0019569ORPHA03163180131244
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1EDNRB CL E G H1910388Hirschsprung diseaseC0019569ORPHA03163180131244
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1EDNRB CL E G H1910388Hirschsprung diseaseC0019569ORPHA03163180131244
HP:0000407HP:0008587Mild neurosensory hearing impairment1EDNRB CL E G H1910388Hirschsprung diseaseC0019569ORPHA03163180131244
HP:0000407HP:0008504Moderate sensorineural hearing impairment1EDNRB CL E G H1910388Hirschsprung diseaseC0019569ORPHA03163180131244
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1EDNRB CL E G H1910388Hirschsprung diseaseC0019569ORPHA03163180131244
HP:0000407HP:0011476Profound sensorineural hearing impairment1EDNRB CL E G H1910388Hirschsprung diseaseC0019569ORPHA03163180131244
HP:0000407HP:0000408Progressive sensorineural hearing impairment1EDNRB CL E G H1910388Hirschsprung diseaseC0019569ORPHA03163180131244
HP:0000407HP:0008625Severe sensorineural hearing impairment1EDNRB CL E G H1910388Hirschsprung diseaseC0019569ORPHA03163180131244
HP:0000407HP:0000410Mixed hearing impairment1ELMO2 CL E G H639163019Intracranial aneurysms multiple congenital anomalyORPHA05717233606421
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ELMO2 CL E G H639163019Intracranial aneurysms multiple congenital anomalyORPHA05717233606421
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ELMO2 CL E G H639163019Intracranial aneurysms multiple congenital anomalyORPHA05717233606421
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ELMO2 CL E G H639163019Intracranial aneurysms multiple congenital anomalyORPHA05717233606421
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ELMO2 CL E G H639163019Intracranial aneurysms multiple congenital anomalyORPHA05717233606421
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ELMO2 CL E G H639163019Intracranial aneurysms multiple congenital anomalyORPHA05717233606421
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ELMO2 CL E G H639163019Intracranial aneurysms multiple congenital anomalyORPHA05717233606421
HP:0000407HP:0008587Mild neurosensory hearing impairment1ELMO2 CL E G H639163019Intracranial aneurysms multiple congenital anomalyORPHA05717233606421
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ELMO2 CL E G H639163019Intracranial aneurysms multiple congenital anomalyORPHA05717233606421
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ELMO2 CL E G H639163019Intracranial aneurysms multiple congenital anomalyORPHA05717233606421
HP:0000407HP:0011476Profound sensorineural hearing impairment1ELMO2 CL E G H639163019Intracranial aneurysms multiple congenital anomalyORPHA05717233606421
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ELMO2 CL E G H639163019Intracranial aneurysms multiple congenital anomalyORPHA05717233606421
HP:0000407HP:0008625Severe sensorineural hearing impairment1ELMO2 CL E G H639163019Intracranial aneurysms multiple congenital anomalyORPHA05717233606421
HP:0000407HP:0000410Mixed hearing impairment1EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA0164029331615068
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA0164029331615068
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA0164029331615068
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA0164029331615068
HP:0000407HP:0008527Congenital sensorineural hearing impairment1EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA0164029331615068
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA0164029331615068
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA0164029331615068
HP:0000407HP:0008587Mild neurosensory hearing impairment1EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA0164029331615068
HP:0000407HP:0008504Moderate sensorineural hearing impairment1EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA0164029331615068
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA0164029331615068
HP:0000407HP:0011476Profound sensorineural hearing impairment1EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA0164029331615068
HP:0000407HP:0000408Progressive sensorineural hearing impairment1EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA0164029331615068
HP:0000407HP:0008625Severe sensorineural hearing impairment1EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA0164029331615068
HP:0000407HP:0000410Mixed hearing impairment1EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM0164029331615068
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM0164029331615068
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM0164029331615068
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM0164029331615068
HP:0000407HP:0008527Congenital sensorineural hearing impairment1EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM0164029331615068
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM0164029331615068
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM0164029331615068
HP:0000407HP:0008587Mild neurosensory hearing impairment1EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM0164029331615068
HP:0000407HP:0008504Moderate sensorineural hearing impairment1EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM0164029331615068
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM0164029331615068
HP:0000407HP:0011476Profound sensorineural hearing impairment1EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM0164029331615068
HP:0000407HP:0000408Progressive sensorineural hearing impairment1EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM0164029331615068
HP:0000407HP:0008625Severe sensorineural hearing impairment1EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM0164029331615068
HP:0000407HP:0000410Mixed hearing impairment1EPS15L1 CL E G H585132440ORPHA04524634616826
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1EPS15L1 CL E G H585132440ORPHA04524634616826
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1EPS15L1 CL E G H585132440ORPHA04524634616826
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1EPS15L1 CL E G H585132440ORPHA04524634616826
HP:0000407HP:0008527Congenital sensorineural hearing impairment1EPS15L1 CL E G H585132440ORPHA04524634616826
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1EPS15L1 CL E G H585132440ORPHA04524634616826
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1EPS15L1 CL E G H585132440ORPHA04524634616826
HP:0000407HP:0008587Mild neurosensory hearing impairment1EPS15L1 CL E G H585132440ORPHA04524634616826
HP:0000407HP:0008504Moderate sensorineural hearing impairment1EPS15L1 CL E G H585132440ORPHA04524634616826
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1EPS15L1 CL E G H585132440ORPHA04524634616826
HP:0000407HP:0011476Profound sensorineural hearing impairment1EPS15L1 CL E G H585132440ORPHA04524634616826
HP:0000407HP:0000408Progressive sensorineural hearing impairment1EPS15L1 CL E G H585132440ORPHA04524634616826
HP:0000407HP:0008625Severe sensorineural hearing impairment1EPS15L1 CL E G H585132440ORPHA04524634616826
HP:0000407HP:0000410Mixed hearing impairment1FBN1 CL E G H22002833ORPHA066193603134797
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1FBN1 CL E G H22002833ORPHA066193603134797
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1FBN1 CL E G H22002833ORPHA066193603134797
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1FBN1 CL E G H22002833ORPHA066193603134797
HP:0000407HP:0008527Congenital sensorineural hearing impairment1FBN1 CL E G H22002833ORPHA066193603134797
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1FBN1 CL E G H22002833ORPHA066193603134797
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1FBN1 CL E G H22002833ORPHA066193603134797
HP:0000407HP:0008587Mild neurosensory hearing impairment1FBN1 CL E G H22002833ORPHA066193603134797
HP:0000407HP:0008504Moderate sensorineural hearing impairment1FBN1 CL E G H22002833ORPHA066193603134797
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1FBN1 CL E G H22002833ORPHA066193603134797
HP:0000407HP:0011476Profound sensorineural hearing impairment1FBN1 CL E G H22002833ORPHA066193603134797
HP:0000407HP:0000408Progressive sensorineural hearing impairment1FBN1 CL E G H22002833ORPHA066193603134797
HP:0000407HP:0008625Severe sensorineural hearing impairment1FBN1 CL E G H22002833ORPHA066193603134797
HP:0000407HP:0000410Mixed hearing impairment1FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA010922788613301
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA010922788613301
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA010922788613301
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA010922788613301
HP:0000407HP:0008527Congenital sensorineural hearing impairment1FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA010922788613301
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA010922788613301
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA010922788613301
HP:0000407HP:0008587Mild neurosensory hearing impairment1FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA010922788613301
HP:0000407HP:0008504Moderate sensorineural hearing impairment1FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA010922788613301
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA010922788613301
HP:0000407HP:0011476Profound sensorineural hearing impairment1FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA010922788613301
HP:0000407HP:0000408Progressive sensorineural hearing impairment1FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA010922788613301
HP:0000407HP:0008625Severe sensorineural hearing impairment1FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA010922788613301
HP:0000407HP:0000410Mixed hearing impairment1FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA01193673603725
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA01193673603725
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA01193673603725
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA01193673603725
HP:0000407HP:0008527Congenital sensorineural hearing impairment1FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA01193673603725
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA01193673603725
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA01193673603725
HP:0000407HP:0008587Mild neurosensory hearing impairment1FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA01193673603725
HP:0000407HP:0008504Moderate sensorineural hearing impairment1FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA01193673603725
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA01193673603725
HP:0000407HP:0011476Profound sensorineural hearing impairment1FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA01193673603725
HP:0000407HP:0000408Progressive sensorineural hearing impairment1FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA01193673603725
HP:0000407HP:0008625Severe sensorineural hearing impairment1FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA01193673603725
HP:0000407HP:0000410Mixed hearing impairment1FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA0983686600483
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA0983686600483
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA0983686600483
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA0983686600483
HP:0000407HP:0008527Congenital sensorineural hearing impairment1FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA0983686600483
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA0983686600483
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA0983686600483
HP:0000407HP:0008587Mild neurosensory hearing impairment1FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA0983686600483
HP:0000407HP:0008504Moderate sensorineural hearing impairment1FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA0983686600483
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA0983686600483
HP:0000407HP:0011476Profound sensorineural hearing impairment1FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA0983686600483
HP:0000407HP:0000408Progressive sensorineural hearing impairment1FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA0983686600483
HP:0000407HP:0008625Severe sensorineural hearing impairment1FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA0983686600483
HP:0000407HP:0000410Mixed hearing impairment1FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA09363688136350
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA09363688136350
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA09363688136350
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA09363688136350
HP:0000407HP:0008527Congenital sensorineural hearing impairment1FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA09363688136350
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA09363688136350
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA09363688136350
HP:0000407HP:0008587Mild neurosensory hearing impairment1FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA09363688136350
HP:0000407HP:0008504Moderate sensorineural hearing impairment1FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA09363688136350
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA09363688136350
HP:0000407HP:0011476Profound sensorineural hearing impairment1FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA09363688136350
HP:0000407HP:0000408Progressive sensorineural hearing impairment1FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA09363688136350
HP:0000407HP:0008625Severe sensorineural hearing impairment1FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA09363688136350
HP:0000407HP:0000410Mixed hearing impairment1FGFR1 CL E G H22603157Lachiewicz Sibley syndromeORPHA09363688136350
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1FGFR1 CL E G H22603157Lachiewicz Sibley syndromeORPHA09363688136350
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1FGFR1 CL E G H22603157Lachiewicz Sibley syndromeORPHA09363688136350
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1FGFR1 CL E G H22603157Lachiewicz Sibley syndromeORPHA09363688136350
HP:0000407HP:0008527Congenital sensorineural hearing impairment1FGFR1 CL E G H22603157Lachiewicz Sibley syndromeORPHA09363688136350
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1FGFR1 CL E G H22603157Lachiewicz Sibley syndromeORPHA09363688136350
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1FGFR1 CL E G H22603157Lachiewicz Sibley syndromeORPHA09363688136350
HP:0000407HP:0008587Mild neurosensory hearing impairment1FGFR1 CL E G H22603157Lachiewicz Sibley syndromeORPHA09363688136350
HP:0000407HP:0008504Moderate sensorineural hearing impairment1FGFR1 CL E G H22603157Lachiewicz Sibley syndromeORPHA09363688136350
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1FGFR1 CL E G H22603157Lachiewicz Sibley syndromeORPHA09363688136350
HP:0000407HP:0011476Profound sensorineural hearing impairment1FGFR1 CL E G H22603157Lachiewicz Sibley syndromeORPHA09363688136350
HP:0000407HP:0000408Progressive sensorineural hearing impairment1FGFR1 CL E G H22603157Lachiewicz Sibley syndromeORPHA09363688136350
HP:0000407HP:0008625Severe sensorineural hearing impairment1FGFR1 CL E G H22603157Lachiewicz Sibley syndromeORPHA09363688136350
HP:0000407HP:0000410Mixed hearing impairment1FGFR2 CL E G H226387ORPHA06853689176943
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1FGFR2 CL E G H226387ORPHA06853689176943
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1FGFR2 CL E G H226387ORPHA06853689176943
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1FGFR2 CL E G H226387ORPHA06853689176943
HP:0000407HP:0008527Congenital sensorineural hearing impairment1FGFR2 CL E G H226387ORPHA06853689176943
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1FGFR2 CL E G H226387ORPHA06853689176943
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1FGFR2 CL E G H226387ORPHA06853689176943
HP:0000407HP:0008587Mild neurosensory hearing impairment1FGFR2 CL E G H226387ORPHA06853689176943
HP:0000407HP:0008504Moderate sensorineural hearing impairment1FGFR2 CL E G H226387ORPHA06853689176943
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1FGFR2 CL E G H226387ORPHA06853689176943
HP:0000407HP:0011476Profound sensorineural hearing impairment1FGFR2 CL E G H226387ORPHA06853689176943
HP:0000407HP:0000408Progressive sensorineural hearing impairment1FGFR2 CL E G H226387ORPHA06853689176943
HP:0000407HP:0008625Severe sensorineural hearing impairment1FGFR2 CL E G H226387ORPHA06853689176943
HP:0000407HP:0000410Mixed hearing impairment1FGFR2 CL E G H2263794ORPHA06853689176943
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1FGFR2 CL E G H2263794ORPHA06853689176943
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1FGFR2 CL E G H2263794ORPHA06853689176943
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1FGFR2 CL E G H2263794ORPHA06853689176943
HP:0000407HP:0008527Congenital sensorineural hearing impairment1FGFR2 CL E G H2263794ORPHA06853689176943
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1FGFR2 CL E G H2263794ORPHA06853689176943
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1FGFR2 CL E G H2263794ORPHA06853689176943
HP:0000407HP:0008587Mild neurosensory hearing impairment1FGFR2 CL E G H2263794ORPHA06853689176943
HP:0000407HP:0008504Moderate sensorineural hearing impairment1FGFR2 CL E G H2263794ORPHA06853689176943
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1FGFR2 CL E G H2263794ORPHA06853689176943
HP:0000407HP:0011476Profound sensorineural hearing impairment1FGFR2 CL E G H2263794ORPHA06853689176943
HP:0000407HP:0000408Progressive sensorineural hearing impairment1FGFR2 CL E G H2263794ORPHA06853689176943
HP:0000407HP:0008625Severe sensorineural hearing impairment1FGFR2 CL E G H2263794ORPHA06853689176943
HP:0000407HP:0000410Mixed hearing impairment1FGFR3 CL E G H2261794ORPHA09163690134934
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1FGFR3 CL E G H2261794ORPHA09163690134934
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1FGFR3 CL E G H2261794ORPHA09163690134934
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1FGFR3 CL E G H2261794ORPHA09163690134934
HP:0000407HP:0008527Congenital sensorineural hearing impairment1FGFR3 CL E G H2261794ORPHA09163690134934
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1FGFR3 CL E G H2261794ORPHA09163690134934
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1FGFR3 CL E G H2261794ORPHA09163690134934
HP:0000407HP:0008587Mild neurosensory hearing impairment1FGFR3 CL E G H2261794ORPHA09163690134934
HP:0000407HP:0008504Moderate sensorineural hearing impairment1FGFR3 CL E G H2261794ORPHA09163690134934
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1FGFR3 CL E G H2261794ORPHA09163690134934
HP:0000407HP:0011476Profound sensorineural hearing impairment1FGFR3 CL E G H2261794ORPHA09163690134934
HP:0000407HP:0000408Progressive sensorineural hearing impairment1FGFR3 CL E G H2261794ORPHA09163690134934
HP:0000407HP:0008625Severe sensorineural hearing impairment1FGFR3 CL E G H2261794ORPHA09163690134934
HP:0000407HP:0000410Mixed hearing impairment1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM03963693605830
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM03963693605830
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM03963693605830
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM03963693605830
HP:0000407HP:0008527Congenital sensorineural hearing impairment1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM03963693605830
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM03963693605830
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM03963693605830
HP:0000407HP:0008587Mild neurosensory hearing impairment1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM03963693605830
HP:0000407HP:0008504Moderate sensorineural hearing impairment1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM03963693605830
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM03963693605830
HP:0000407HP:0011476Profound sensorineural hearing impairment1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM03963693605830
HP:0000407HP:0000408Progressive sensorineural hearing impairment1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM03963693605830
HP:0000407HP:0008625Severe sensorineural hearing impairment1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM03963693605830
HP:0000407HP:0000410Mixed hearing impairment1FHL2 CL E G H2274154Sandhaus Ben-Ami syndromeORPHA02003703602633
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1FHL2 CL E G H2274154Sandhaus Ben-Ami syndromeORPHA02003703602633
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1FHL2 CL E G H2274154Sandhaus Ben-Ami syndromeORPHA02003703602633
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1FHL2 CL E G H2274154Sandhaus Ben-Ami syndromeORPHA02003703602633
HP:0000407HP:0008527Congenital sensorineural hearing impairment1FHL2 CL E G H2274154Sandhaus Ben-Ami syndromeORPHA02003703602633
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1FHL2 CL E G H2274154Sandhaus Ben-Ami syndromeORPHA02003703602633
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1FHL2 CL E G H2274154Sandhaus Ben-Ami syndromeORPHA02003703602633
HP:0000407HP:0008587Mild neurosensory hearing impairment1FHL2 CL E G H2274154Sandhaus Ben-Ami syndromeORPHA02003703602633
HP:0000407HP:0008504Moderate sensorineural hearing impairment1FHL2 CL E G H2274154Sandhaus Ben-Ami syndromeORPHA02003703602633
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1FHL2 CL E G H2274154Sandhaus Ben-Ami syndromeORPHA02003703602633
HP:0000407HP:0011476Profound sensorineural hearing impairment1FHL2 CL E G H2274154Sandhaus Ben-Ami syndromeORPHA02003703602633
HP:0000407HP:0000408Progressive sensorineural hearing impairment1FHL2 CL E G H2274154Sandhaus Ben-Ami syndromeORPHA02003703602633
HP:0000407HP:0008625Severe sensorineural hearing impairment1FHL2 CL E G H2274154Sandhaus Ben-Ami syndromeORPHA02003703602633
HP:0000407HP:0000410Mixed hearing impairment1FIBP CL E G H9158617107Thauvin-Robinet-Faivre syndrome617107C4310715OMIM0613705608296
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1FIBP CL E G H9158617107Thauvin-Robinet-Faivre syndrome617107C4310715OMIM0613705608296
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1FIBP CL E G H9158617107Thauvin-Robinet-Faivre syndrome617107C4310715OMIM0613705608296
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1FIBP CL E G H9158617107Thauvin-Robinet-Faivre syndrome617107C4310715OMIM0613705608296
HP:0000407HP:0008527Congenital sensorineural hearing impairment1FIBP CL E G H9158617107Thauvin-Robinet-Faivre syndrome617107C4310715OMIM0613705608296
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1FIBP CL E G H9158617107Thauvin-Robinet-Faivre syndrome617107C4310715OMIM0613705608296
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1FIBP CL E G H9158617107Thauvin-Robinet-Faivre syndrome617107C4310715OMIM0613705608296
HP:0000407HP:0008587Mild neurosensory hearing impairment1FIBP CL E G H9158617107Thauvin-Robinet-Faivre syndrome617107C4310715OMIM0613705608296
HP:0000407HP:0008504Moderate sensorineural hearing impairment1FIBP CL E G H9158617107Thauvin-Robinet-Faivre syndrome617107C4310715OMIM0613705608296
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1FIBP CL E G H9158617107Thauvin-Robinet-Faivre syndrome617107C4310715OMIM0613705608296
HP:0000407HP:0011476Profound sensorineural hearing impairment1FIBP CL E G H9158617107Thauvin-Robinet-Faivre syndrome617107C4310715OMIM0613705608296
HP:0000407HP:0000408Progressive sensorineural hearing impairment1FIBP CL E G H9158617107Thauvin-Robinet-Faivre syndrome617107C4310715OMIM0613705608296
HP:0000407HP:0008625Severe sensorineural hearing impairment1FIBP CL E G H9158617107Thauvin-Robinet-Faivre syndrome617107C4310715OMIM0613705608296
HP:0000407HP:0000410Mixed hearing impairment1FKTN CL E G H2218154Sandhaus Ben-Ami syndromeORPHA09143622607440
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1FKTN CL E G H2218154Sandhaus Ben-Ami syndromeORPHA09143622607440
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1FKTN CL E G H2218154Sandhaus Ben-Ami syndromeORPHA09143622607440
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1FKTN CL E G H2218154Sandhaus Ben-Ami syndromeORPHA09143622607440
HP:0000407HP:0008527Congenital sensorineural hearing impairment1FKTN CL E G H2218154Sandhaus Ben-Ami syndromeORPHA09143622607440
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1FKTN CL E G H2218154Sandhaus Ben-Ami syndromeORPHA09143622607440
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1FKTN CL E G H2218154Sandhaus Ben-Ami syndromeORPHA09143622607440
HP:0000407HP:0008587Mild neurosensory hearing impairment1FKTN CL E G H2218154Sandhaus Ben-Ami syndromeORPHA09143622607440
HP:0000407HP:0008504Moderate sensorineural hearing impairment1FKTN CL E G H2218154Sandhaus Ben-Ami syndromeORPHA09143622607440
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1FKTN CL E G H2218154Sandhaus Ben-Ami syndromeORPHA09143622607440
HP:0000407HP:0011476Profound sensorineural hearing impairment1FKTN CL E G H2218154Sandhaus Ben-Ami syndromeORPHA09143622607440
HP:0000407HP:0000408Progressive sensorineural hearing impairment1FKTN CL E G H2218154Sandhaus Ben-Ami syndromeORPHA09143622607440
HP:0000407HP:0008625Severe sensorineural hearing impairment1FKTN CL E G H2218154Sandhaus Ben-Ami syndromeORPHA09143622607440
HP:0000407HP:0000410Mixed hearing impairment1FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA0773762604808
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA0773762604808
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA0773762604808
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA0773762604808
HP:0000407HP:0008527Congenital sensorineural hearing impairment1FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA0773762604808
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA0773762604808
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA0773762604808
HP:0000407HP:0008587Mild neurosensory hearing impairment1FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA0773762604808
HP:0000407HP:0008504Moderate sensorineural hearing impairment1FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA0773762604808
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA0773762604808
HP:0000407HP:0011476Profound sensorineural hearing impairment1FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA0773762604808
HP:0000407HP:0000408Progressive sensorineural hearing impairment1FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA0773762604808
HP:0000407HP:0008625Severe sensorineural hearing impairment1FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA0773762604808
HP:0000407HP:0000410Mixed hearing impairment1FOXE3 CL E G H230188632ORPHA03443808601094
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1FOXE3 CL E G H230188632ORPHA03443808601094
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1FOXE3 CL E G H230188632ORPHA03443808601094
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1FOXE3 CL E G H230188632ORPHA03443808601094
HP:0000407HP:0008527Congenital sensorineural hearing impairment1FOXE3 CL E G H230188632ORPHA03443808601094
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1FOXE3 CL E G H230188632ORPHA03443808601094
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1FOXE3 CL E G H230188632ORPHA03443808601094
HP:0000407HP:0008587Mild neurosensory hearing impairment1FOXE3 CL E G H230188632ORPHA03443808601094
HP:0000407HP:0008504Moderate sensorineural hearing impairment1FOXE3 CL E G H230188632ORPHA03443808601094
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1FOXE3 CL E G H230188632ORPHA03443808601094
HP:0000407HP:0011476Profound sensorineural hearing impairment1FOXE3 CL E G H230188632ORPHA03443808601094
HP:0000407HP:0000408Progressive sensorineural hearing impairment1FOXE3 CL E G H230188632ORPHA03443808601094
HP:0000407HP:0008625Severe sensorineural hearing impairment1FOXE3 CL E G H230188632ORPHA03443808601094
HP:0000407HP:0000410Mixed hearing impairment1GABRD CL E G H25631606ORPHA04744084137163
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1GABRD CL E G H25631606ORPHA04744084137163
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1GABRD CL E G H25631606ORPHA04744084137163
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1GABRD CL E G H25631606ORPHA04744084137163
HP:0000407HP:0008527Congenital sensorineural hearing impairment1GABRD CL E G H25631606ORPHA04744084137163
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1GABRD CL E G H25631606ORPHA04744084137163
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1GABRD CL E G H25631606ORPHA04744084137163
HP:0000407HP:0008587Mild neurosensory hearing impairment1GABRD CL E G H25631606ORPHA04744084137163
HP:0000407HP:0008504Moderate sensorineural hearing impairment1GABRD CL E G H25631606ORPHA04744084137163
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1GABRD CL E G H25631606ORPHA04744084137163
HP:0000407HP:0011476Profound sensorineural hearing impairment1GABRD CL E G H25631606ORPHA04744084137163
HP:0000407HP:0000408Progressive sensorineural hearing impairment1GABRD CL E G H25631606ORPHA04744084137163
HP:0000407HP:0008625Severe sensorineural hearing impairment1GABRD CL E G H25631606ORPHA04744084137163
HP:0000407HP:0000410Mixed hearing impairment1GATA3 CL E G H2625146255Barakat syndrome146255C1840333OMIM03394172131320
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1GATA3 CL E G H2625146255Barakat syndrome146255C1840333OMIM03394172131320
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1GATA3 CL E G H2625146255Barakat syndrome146255C1840333OMIM03394172131320
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1GATA3 CL E G H2625146255Barakat syndrome146255C1840333OMIM03394172131320
HP:0000407HP:0008527Congenital sensorineural hearing impairment1GATA3 CL E G H2625146255Barakat syndrome146255C1840333OMIM03394172131320
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1GATA3 CL E G H2625146255Barakat syndrome146255C1840333OMIM03394172131320
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1GATA3 CL E G H2625146255Barakat syndrome146255C1840333OMIM03394172131320
HP:0000407HP:0008587Mild neurosensory hearing impairment1GATA3 CL E G H2625146255Barakat syndrome146255C1840333OMIM03394172131320
HP:0000407HP:0008504Moderate sensorineural hearing impairment1GATA3 CL E G H2625146255Barakat syndrome146255C1840333OMIM03394172131320
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1GATA3 CL E G H2625146255Barakat syndrome146255C1840333OMIM03394172131320
HP:0000407HP:0011476Profound sensorineural hearing impairment1GATA3 CL E G H2625146255Barakat syndrome146255C1840333OMIM03394172131320
HP:0000407HP:0000408Progressive sensorineural hearing impairment1GATA3 CL E G H2625146255Barakat syndrome146255C1840333OMIM03394172131320
HP:0000407HP:0008625Severe sensorineural hearing impairment1GATA3 CL E G H2625146255Barakat syndrome146255C1840333OMIM03394172131320
HP:0000407HP:0000410Mixed hearing impairment1GATAD1 CL E G H57798154Sandhaus Ben-Ami syndromeORPHA061829941614518
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1GATAD1 CL E G H57798154Sandhaus Ben-Ami syndromeORPHA061829941614518
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1GATAD1 CL E G H57798154Sandhaus Ben-Ami syndromeORPHA061829941614518
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1GATAD1 CL E G H57798154Sandhaus Ben-Ami syndromeORPHA061829941614518
HP:0000407HP:0008527Congenital sensorineural hearing impairment1GATAD1 CL E G H57798154Sandhaus Ben-Ami syndromeORPHA061829941614518
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1GATAD1 CL E G H57798154Sandhaus Ben-Ami syndromeORPHA061829941614518
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1GATAD1 CL E G H57798154Sandhaus Ben-Ami syndromeORPHA061829941614518
HP:0000407HP:0008587Mild neurosensory hearing impairment1GATAD1 CL E G H57798154Sandhaus Ben-Ami syndromeORPHA061829941614518
HP:0000407HP:0008504Moderate sensorineural hearing impairment1GATAD1 CL E G H57798154Sandhaus Ben-Ami syndromeORPHA061829941614518
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1GATAD1 CL E G H57798154Sandhaus Ben-Ami syndromeORPHA061829941614518
HP:0000407HP:0011476Profound sensorineural hearing impairment1GATAD1 CL E G H57798154Sandhaus Ben-Ami syndromeORPHA061829941614518
HP:0000407HP:0000408Progressive sensorineural hearing impairment1GATAD1 CL E G H57798154Sandhaus Ben-Ami syndromeORPHA061829941614518
HP:0000407HP:0008625Severe sensorineural hearing impairment1GATAD1 CL E G H57798154Sandhaus Ben-Ami syndromeORPHA061829941614518
HP:0000407HP:0000410Mixed hearing impairment1GBA2 CL E G H57704352641ORPHA035518986609471
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1GBA2 CL E G H57704352641ORPHA035518986609471
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1GBA2 CL E G H57704352641ORPHA035518986609471
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1GBA2 CL E G H57704352641ORPHA035518986609471
HP:0000407HP:0008527Congenital sensorineural hearing impairment1GBA2 CL E G H57704352641ORPHA035518986609471
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1GBA2 CL E G H57704352641ORPHA035518986609471
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1GBA2 CL E G H57704352641ORPHA035518986609471
HP:0000407HP:0008587Mild neurosensory hearing impairment1GBA2 CL E G H57704352641ORPHA035518986609471
HP:0000407HP:0008504Moderate sensorineural hearing impairment1GBA2 CL E G H57704352641ORPHA035518986609471
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1GBA2 CL E G H57704352641ORPHA035518986609471
HP:0000407HP:0011476Profound sensorineural hearing impairment1GBA2 CL E G H57704352641ORPHA035518986609471
HP:0000407HP:0000408Progressive sensorineural hearing impairment1GBA2 CL E G H57704352641ORPHA035518986609471
HP:0000407HP:0008625Severe sensorineural hearing impairment1GBA2 CL E G H57704352641ORPHA035518986609471
HP:0000407HP:0000410Mixed hearing impairment1GDNF CL E G H2668388Hirschsprung diseaseC0019569ORPHA01374232600837
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1GDNF CL E G H2668388Hirschsprung diseaseC0019569ORPHA01374232600837
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1GDNF CL E G H2668388Hirschsprung diseaseC0019569ORPHA01374232600837
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1GDNF CL E G H2668388Hirschsprung diseaseC0019569ORPHA01374232600837
HP:0000407HP:0008527Congenital sensorineural hearing impairment1GDNF CL E G H2668388Hirschsprung diseaseC0019569ORPHA01374232600837
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1GDNF CL E G H2668388Hirschsprung diseaseC0019569ORPHA01374232600837
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1GDNF CL E G H2668388Hirschsprung diseaseC0019569ORPHA01374232600837
HP:0000407HP:0008587Mild neurosensory hearing impairment1GDNF CL E G H2668388Hirschsprung diseaseC0019569ORPHA01374232600837
HP:0000407HP:0008504Moderate sensorineural hearing impairment1GDNF CL E G H2668388Hirschsprung diseaseC0019569ORPHA01374232600837
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1GDNF CL E G H2668388Hirschsprung diseaseC0019569ORPHA01374232600837
HP:0000407HP:0011476Profound sensorineural hearing impairment1GDNF CL E G H2668388Hirschsprung diseaseC0019569ORPHA01374232600837
HP:0000407HP:0000408Progressive sensorineural hearing impairment1GDNF CL E G H2668388Hirschsprung diseaseC0019569ORPHA01374232600837
HP:0000407HP:0008625Severe sensorineural hearing impairment1GDNF CL E G H2668388Hirschsprung diseaseC0019569ORPHA01374232600837
HP:0000407HP:0000410Mixed hearing impairment1GJA1 CL E G H26971522ORPHA02724274121014
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1GJA1 CL E G H26971522ORPHA02724274121014
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1GJA1 CL E G H26971522ORPHA02724274121014
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1GJA1 CL E G H26971522ORPHA02724274121014
HP:0000407HP:0008527Congenital sensorineural hearing impairment1GJA1 CL E G H26971522ORPHA02724274121014
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1GJA1 CL E G H26971522ORPHA02724274121014
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1GJA1 CL E G H26971522ORPHA02724274121014
HP:0000407HP:0008587Mild neurosensory hearing impairment1GJA1 CL E G H26971522ORPHA02724274121014
HP:0000407HP:0008504Moderate sensorineural hearing impairment1GJA1 CL E G H26971522ORPHA02724274121014
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1GJA1 CL E G H26971522ORPHA02724274121014
HP:0000407HP:0011476Profound sensorineural hearing impairment1GJA1 CL E G H26971522ORPHA02724274121014
HP:0000407HP:0000408Progressive sensorineural hearing impairment1GJA1 CL E G H26971522ORPHA02724274121014
HP:0000407HP:0008625Severe sensorineural hearing impairment1GJA1 CL E G H26971522ORPHA02724274121014
HP:0000407HP:0000410Mixed hearing impairment1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM08604283304040
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM08604283304040
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM08604283304040
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM08604283304040
HP:0000407HP:0008527Congenital sensorineural hearing impairment1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM08604283304040
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM08604283304040
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM08604283304040
HP:0000407HP:0008587Mild neurosensory hearing impairment1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM08604283304040
HP:0000407HP:0008504Moderate sensorineural hearing impairment1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM08604283304040
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM08604283304040
HP:0000407HP:0011476Profound sensorineural hearing impairment1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM08604283304040
HP:0000407HP:0000408Progressive sensorineural hearing impairment1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM08604283304040
HP:0000407HP:0008625Severe sensorineural hearing impairment1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM08604283304040
HP:0000407HP:0000410Mixed hearing impairment1GLA CL E G H2717324Slti Salem syndromeORPHA010994296300644
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1GLA CL E G H2717324Slti Salem syndromeORPHA010994296300644
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1GLA CL E G H2717324Slti Salem syndromeORPHA010994296300644
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1GLA CL E G H2717324Slti Salem syndromeORPHA010994296300644
HP:0000407HP:0008527Congenital sensorineural hearing impairment1GLA CL E G H2717324Slti Salem syndromeORPHA010994296300644
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1GLA CL E G H2717324Slti Salem syndromeORPHA010994296300644
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1GLA CL E G H2717324Slti Salem syndromeORPHA010994296300644
HP:0000407HP:0008587Mild neurosensory hearing impairment1GLA CL E G H2717324Slti Salem syndromeORPHA010994296300644
HP:0000407HP:0008504Moderate sensorineural hearing impairment1GLA CL E G H2717324Slti Salem syndromeORPHA010994296300644
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1GLA CL E G H2717324Slti Salem syndromeORPHA010994296300644
HP:0000407HP:0011476Profound sensorineural hearing impairment1GLA CL E G H2717324Slti Salem syndromeORPHA010994296300644
HP:0000407HP:0000408Progressive sensorineural hearing impairment1GLA CL E G H2717324Slti Salem syndromeORPHA010994296300644
HP:0000407HP:0008625Severe sensorineural hearing impairment1GLA CL E G H2717324Slti Salem syndromeORPHA010994296300644
HP:0000407HP:0000410Mixed hearing impairment1GLI3 CL E G H273736Chromosome 3 duplication syndromeC2931333ORPHA09814319165240
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1GLI3 CL E G H273736Chromosome 3 duplication syndromeC2931333ORPHA09814319165240
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1GLI3 CL E G H273736Chromosome 3 duplication syndromeC2931333ORPHA09814319165240
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1GLI3 CL E G H273736Chromosome 3 duplication syndromeC2931333ORPHA09814319165240
HP:0000407HP:0008527Congenital sensorineural hearing impairment1GLI3 CL E G H273736Chromosome 3 duplication syndromeC2931333ORPHA09814319165240
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1GLI3 CL E G H273736Chromosome 3 duplication syndromeC2931333ORPHA09814319165240
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1GLI3 CL E G H273736Chromosome 3 duplication syndromeC2931333ORPHA09814319165240
HP:0000407HP:0008587Mild neurosensory hearing impairment1GLI3 CL E G H273736Chromosome 3 duplication syndromeC2931333ORPHA09814319165240
HP:0000407HP:0008504Moderate sensorineural hearing impairment1GLI3 CL E G H273736Chromosome 3 duplication syndromeC2931333ORPHA09814319165240
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1GLI3 CL E G H273736Chromosome 3 duplication syndromeC2931333ORPHA09814319165240
HP:0000407HP:0011476Profound sensorineural hearing impairment1GLI3 CL E G H273736Chromosome 3 duplication syndromeC2931333ORPHA09814319165240
HP:0000407HP:0000408Progressive sensorineural hearing impairment1GLI3 CL E G H273736Chromosome 3 duplication syndromeC2931333ORPHA09814319165240
HP:0000407HP:0008625Severe sensorineural hearing impairment1GLI3 CL E G H273736Chromosome 3 duplication syndromeC2931333ORPHA09814319165240
HP:0000407HP:0000410Mixed hearing impairment1GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM068628510610192
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM068628510610192
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM068628510610192
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM068628510610192
HP:0000407HP:0008527Congenital sensorineural hearing impairment1GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM068628510610192
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM068628510610192
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM068628510610192
HP:0000407HP:0008587Mild neurosensory hearing impairment1GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM068628510610192
HP:0000407HP:0008504Moderate sensorineural hearing impairment1GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM068628510610192
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM068628510610192
HP:0000407HP:0011476Profound sensorineural hearing impairment1GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM068628510610192
HP:0000407HP:0000408Progressive sensorineural hearing impairment1GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM068628510610192
HP:0000407HP:0008625Severe sensorineural hearing impairment1GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM068628510610192
HP:0000407HP:0000410Mixed hearing impairment1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM016624247610516
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM016624247610516
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM016624247610516
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM016624247610516
HP:0000407HP:0008527Congenital sensorineural hearing impairment1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM016624247610516
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM016624247610516
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM016624247610516
HP:0000407HP:0008587Mild neurosensory hearing impairment1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM016624247610516
HP:0000407HP:0008504Moderate sensorineural hearing impairment1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM016624247610516
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM016624247610516
HP:0000407HP:0011476Profound sensorineural hearing impairment1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM016624247610516
HP:0000407HP:0000408Progressive sensorineural hearing impairment1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM016624247610516
HP:0000407HP:0008625Severe sensorineural hearing impairment1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM016624247610516
HP:0000407HP:0000410Mixed hearing impairment1GMPPA CL E G H29926869ORPHA015022923615495
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1GMPPA CL E G H29926869ORPHA015022923615495
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1GMPPA CL E G H29926869ORPHA015022923615495
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1GMPPA CL E G H29926869ORPHA015022923615495
HP:0000407HP:0008527Congenital sensorineural hearing impairment1GMPPA CL E G H29926869ORPHA015022923615495
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1GMPPA CL E G H29926869ORPHA015022923615495
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1GMPPA CL E G H29926869ORPHA015022923615495
HP:0000407HP:0008587Mild neurosensory hearing impairment1GMPPA CL E G H29926869ORPHA015022923615495
HP:0000407HP:0008504Moderate sensorineural hearing impairment1GMPPA CL E G H29926869ORPHA015022923615495
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1GMPPA CL E G H29926869ORPHA015022923615495
HP:0000407HP:0011476Profound sensorineural hearing impairment1GMPPA CL E G H29926869ORPHA015022923615495
HP:0000407HP:0000408Progressive sensorineural hearing impairment1GMPPA CL E G H29926869ORPHA015022923615495
HP:0000407HP:0008625Severe sensorineural hearing impairment1GMPPA CL E G H29926869ORPHA015022923615495
HP:0000407HP:0000410Mixed hearing impairment1GNAS CL E G H277879443ORPHA06444392139320
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1GNAS CL E G H277879443ORPHA06444392139320
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1GNAS CL E G H277879443ORPHA06444392139320
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1GNAS CL E G H277879443ORPHA06444392139320
HP:0000407HP:0008527Congenital sensorineural hearing impairment1GNAS CL E G H277879443ORPHA06444392139320
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1GNAS CL E G H277879443ORPHA06444392139320
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1GNAS CL E G H277879443ORPHA06444392139320
HP:0000407HP:0008587Mild neurosensory hearing impairment1GNAS CL E G H277879443ORPHA06444392139320
HP:0000407HP:0008504Moderate sensorineural hearing impairment1GNAS CL E G H277879443ORPHA06444392139320
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1GNAS CL E G H277879443ORPHA06444392139320
HP:0000407HP:0011476Profound sensorineural hearing impairment1GNAS CL E G H277879443ORPHA06444392139320
HP:0000407HP:0000408Progressive sensorineural hearing impairment1GNAS CL E G H277879443ORPHA06444392139320
HP:0000407HP:0008625Severe sensorineural hearing impairment1GNAS CL E G H277879443ORPHA06444392139320
HP:0000407HP:0000410Mixed hearing impairment1HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM022721033610876
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM022721033610876
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM022721033610876
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM022721033610876
HP:0000407HP:0008527Congenital sensorineural hearing impairment1HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM022721033610876
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM022721033610876
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM022721033610876
HP:0000407HP:0008587Mild neurosensory hearing impairment1HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM022721033610876
HP:0000407HP:0008504Moderate sensorineural hearing impairment1HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM022721033610876
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM022721033610876
HP:0000407HP:0011476Profound sensorineural hearing impairment1HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM022721033610876
HP:0000407HP:0000408Progressive sensorineural hearing impairment1HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM022721033610876
HP:0000407HP:0008625Severe sensorineural hearing impairment1HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM022721033610876
HP:0000407HP:0000410Mixed hearing impairment1HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA01124877601802
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA01124877601802
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA01124877601802
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA01124877601802
HP:0000407HP:0008527Congenital sensorineural hearing impairment1HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA01124877601802
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA01124877601802
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA01124877601802
HP:0000407HP:0008587Mild neurosensory hearing impairment1HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA01124877601802
HP:0000407HP:0008504Moderate sensorineural hearing impairment1HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA01124877601802
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA01124877601802
HP:0000407HP:0011476Profound sensorineural hearing impairment1HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA01124877601802
HP:0000407HP:0000408Progressive sensorineural hearing impairment1HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA01124877601802
HP:0000407HP:0008625Severe sensorineural hearing impairment1HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA01124877601802
HP:0000407HP:0000410Mixed hearing impairment1HESX1 CL E G H88203157Lachiewicz Sibley syndromeORPHA01124877601802
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1HESX1 CL E G H88203157Lachiewicz Sibley syndromeORPHA01124877601802
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1HESX1 CL E G H88203157Lachiewicz Sibley syndromeORPHA01124877601802
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1HESX1 CL E G H88203157Lachiewicz Sibley syndromeORPHA01124877601802
HP:0000407HP:0008527Congenital sensorineural hearing impairment1HESX1 CL E G H88203157Lachiewicz Sibley syndromeORPHA01124877601802
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1HESX1 CL E G H88203157Lachiewicz Sibley syndromeORPHA01124877601802
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1HESX1 CL E G H88203157Lachiewicz Sibley syndromeORPHA01124877601802
HP:0000407HP:0008587Mild neurosensory hearing impairment1HESX1 CL E G H88203157Lachiewicz Sibley syndromeORPHA01124877601802
HP:0000407HP:0008504Moderate sensorineural hearing impairment1HESX1 CL E G H88203157Lachiewicz Sibley syndromeORPHA01124877601802
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1HESX1 CL E G H88203157Lachiewicz Sibley syndromeORPHA01124877601802
HP:0000407HP:0011476Profound sensorineural hearing impairment1HESX1 CL E G H88203157Lachiewicz Sibley syndromeORPHA01124877601802
HP:0000407HP:0000408Progressive sensorineural hearing impairment1HESX1 CL E G H88203157Lachiewicz Sibley syndromeORPHA01124877601802
HP:0000407HP:0008625Severe sensorineural hearing impairment1HESX1 CL E G H88203157Lachiewicz Sibley syndromeORPHA01124877601802
HP:0000407HP:0000410Mixed hearing impairment1HLA-DPA1 CL E G H3113900ORPHA0184938142880
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1HLA-DPA1 CL E G H3113900ORPHA0184938142880
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1HLA-DPA1 CL E G H3113900ORPHA0184938142880
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1HLA-DPA1 CL E G H3113900ORPHA0184938142880
HP:0000407HP:0008527Congenital sensorineural hearing impairment1HLA-DPA1 CL E G H3113900ORPHA0184938142880
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1HLA-DPA1 CL E G H3113900ORPHA0184938142880
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1HLA-DPA1 CL E G H3113900ORPHA0184938142880
HP:0000407HP:0008587Mild neurosensory hearing impairment1HLA-DPA1 CL E G H3113900ORPHA0184938142880
HP:0000407HP:0008504Moderate sensorineural hearing impairment1HLA-DPA1 CL E G H3113900ORPHA0184938142880
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1HLA-DPA1 CL E G H3113900ORPHA0184938142880
HP:0000407HP:0011476Profound sensorineural hearing impairment1HLA-DPA1 CL E G H3113900ORPHA0184938142880
HP:0000407HP:0000408Progressive sensorineural hearing impairment1HLA-DPA1 CL E G H3113900ORPHA0184938142880
HP:0000407HP:0008625Severe sensorineural hearing impairment1HLA-DPA1 CL E G H3113900ORPHA0184938142880
HP:0000407HP:0000410Mixed hearing impairment1HLA-DPB1 CL E G H3115900ORPHA0194940142858
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1HLA-DPB1 CL E G H3115900ORPHA0194940142858
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1HLA-DPB1 CL E G H3115900ORPHA0194940142858
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1HLA-DPB1 CL E G H3115900ORPHA0194940142858
HP:0000407HP:0008527Congenital sensorineural hearing impairment1HLA-DPB1 CL E G H3115900ORPHA0194940142858
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1HLA-DPB1 CL E G H3115900ORPHA0194940142858
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1HLA-DPB1 CL E G H3115900ORPHA0194940142858
HP:0000407HP:0008587Mild neurosensory hearing impairment1HLA-DPB1 CL E G H3115900ORPHA0194940142858
HP:0000407HP:0008504Moderate sensorineural hearing impairment1HLA-DPB1 CL E G H3115900ORPHA0194940142858
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1HLA-DPB1 CL E G H3115900ORPHA0194940142858
HP:0000407HP:0011476Profound sensorineural hearing impairment1HLA-DPB1 CL E G H3115900ORPHA0194940142858
HP:0000407HP:0000408Progressive sensorineural hearing impairment1HLA-DPB1 CL E G H3115900ORPHA0194940142858
HP:0000407HP:0008625Severe sensorineural hearing impairment1HLA-DPB1 CL E G H3115900ORPHA0194940142858
HP:0000407HP:0000410Mixed hearing impairment1HOMER2 CL E G H9455616707Deafness, autosomal dominant 68616707C4225240OMIM014717513604799
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1HOMER2 CL E G H9455616707Deafness, autosomal dominant 68616707C4225240OMIM014717513604799
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1HOMER2 CL E G H9455616707Deafness, autosomal dominant 68616707C4225240OMIM014717513604799
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1HOMER2 CL E G H9455616707Deafness, autosomal dominant 68616707C4225240OMIM014717513604799
HP:0000407HP:0008527Congenital sensorineural hearing impairment1HOMER2 CL E G H9455616707Deafness, autosomal dominant 68616707C4225240OMIM014717513604799
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1HOMER2 CL E G H9455616707Deafness, autosomal dominant 68616707C4225240OMIM014717513604799
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1HOMER2 CL E G H9455616707Deafness, autosomal dominant 68616707C4225240OMIM014717513604799
HP:0000407HP:0008587Mild neurosensory hearing impairment1HOMER2 CL E G H9455616707Deafness, autosomal dominant 68616707C4225240OMIM014717513604799
HP:0000407HP:0008504Moderate sensorineural hearing impairment1HOMER2 CL E G H9455616707Deafness, autosomal dominant 68616707C4225240OMIM014717513604799
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1HOMER2 CL E G H9455616707Deafness, autosomal dominant 68616707C4225240OMIM014717513604799
HP:0000407HP:0011476Profound sensorineural hearing impairment1HOMER2 CL E G H9455616707Deafness, autosomal dominant 68616707C4225240OMIM014717513604799
HP:0000407HP:0000408Progressive sensorineural hearing impairment1HOMER2 CL E G H9455616707Deafness, autosomal dominant 68616707C4225240OMIM014717513604799
HP:0000407HP:0008625Severe sensorineural hearing impairment1HOMER2 CL E G H9455616707Deafness, autosomal dominant 68616707C4225240OMIM014717513604799
HP:0000407HP:0000410Mixed hearing impairment1HOXA11 CL E G H320771289ORPHA0715101142958
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1HOXA11 CL E G H320771289ORPHA0715101142958
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1HOXA11 CL E G H320771289ORPHA0715101142958
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1HOXA11 CL E G H320771289ORPHA0715101142958
HP:0000407HP:0008527Congenital sensorineural hearing impairment1HOXA11 CL E G H320771289ORPHA0715101142958
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1HOXA11 CL E G H320771289ORPHA0715101142958
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1HOXA11 CL E G H320771289ORPHA0715101142958
HP:0000407HP:0008587Mild neurosensory hearing impairment1HOXA11 CL E G H320771289ORPHA0715101142958
HP:0000407HP:0008504Moderate sensorineural hearing impairment1HOXA11 CL E G H320771289ORPHA0715101142958
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1HOXA11 CL E G H320771289ORPHA0715101142958
HP:0000407HP:0011476Profound sensorineural hearing impairment1HOXA11 CL E G H320771289ORPHA0715101142958
HP:0000407HP:0000408Progressive sensorineural hearing impairment1HOXA11 CL E G H320771289ORPHA0715101142958
HP:0000407HP:0008625Severe sensorineural hearing impairment1HOXA11 CL E G H320771289ORPHA0715101142958
HP:0000407HP:0000410Mixed hearing impairment1HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA01125201604846
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA01125201604846
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA01125201604846
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA01125201604846
HP:0000407HP:0008527Congenital sensorineural hearing impairment1HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA01125201604846
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA01125201604846
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA01125201604846
HP:0000407HP:0008587Mild neurosensory hearing impairment1HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA01125201604846
HP:0000407HP:0008504Moderate sensorineural hearing impairment1HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA01125201604846
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA01125201604846
HP:0000407HP:0011476Profound sensorineural hearing impairment1HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA01125201604846
HP:0000407HP:0000408Progressive sensorineural hearing impairment1HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA01125201604846
HP:0000407HP:0008625Severe sensorineural hearing impairment1HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA01125201604846
HP:0000407HP:0000410Mixed hearing impairment1HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM024414348606441
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM024414348606441
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM024414348606441
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM024414348606441
HP:0000407HP:0008527Congenital sensorineural hearing impairment1HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM024414348606441
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM024414348606441
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM024414348606441
HP:0000407HP:0008587Mild neurosensory hearing impairment1HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM024414348606441
HP:0000407HP:0008504Moderate sensorineural hearing impairment1HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM024414348606441
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM024414348606441
HP:0000407HP:0011476Profound sensorineural hearing impairment1HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM024414348606441
HP:0000407HP:0000408Progressive sensorineural hearing impairment1HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM024414348606441
HP:0000407HP:0008625Severe sensorineural hearing impairment1HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM024414348606441
HP:0000407HP:0000410Mixed hearing impairment1IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0000407HP:0008527Congenital sensorineural hearing impairment1IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0000407HP:0008587Mild neurosensory hearing impairment1IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0000407HP:0008504Moderate sensorineural hearing impairment1IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0000407HP:0011476Profound sensorineural hearing impairment1IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0000407HP:0000408Progressive sensorineural hearing impairment1IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0000407HP:0008625Severe sensorineural hearing impairment1IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0000407HP:0000410Mixed hearing impairment1IDUA CL E G H342593474ORPHA017885391252800
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1IDUA CL E G H342593474ORPHA017885391252800
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1IDUA CL E G H342593474ORPHA017885391252800
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1IDUA CL E G H342593474ORPHA017885391252800
HP:0000407HP:0008527Congenital sensorineural hearing impairment1IDUA CL E G H342593474ORPHA017885391252800
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1IDUA CL E G H342593474ORPHA017885391252800
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1IDUA CL E G H342593474ORPHA017885391252800
HP:0000407HP:0008587Mild neurosensory hearing impairment1IDUA CL E G H342593474ORPHA017885391252800
HP:0000407HP:0008504Moderate sensorineural hearing impairment1IDUA CL E G H342593474ORPHA017885391252800
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1IDUA CL E G H342593474ORPHA017885391252800
HP:0000407HP:0011476Profound sensorineural hearing impairment1IDUA CL E G H342593474ORPHA017885391252800
HP:0000407HP:0000408Progressive sensorineural hearing impairment1IDUA CL E G H342593474ORPHA017885391252800
HP:0000407HP:0008625Severe sensorineural hearing impairment1IDUA CL E G H342593474ORPHA017885391252800
HP:0000407HP:0000410Mixed hearing impairment1IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA016317616606807
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA016317616606807
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA016317616606807
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA016317616606807
HP:0000407HP:0008527Congenital sensorineural hearing impairment1IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA016317616606807
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA016317616606807
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA016317616606807
HP:0000407HP:0008587Mild neurosensory hearing impairment1IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA016317616606807
HP:0000407HP:0008504Moderate sensorineural hearing impairment1IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA016317616606807
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA016317616606807
HP:0000407HP:0011476Profound sensorineural hearing impairment1IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA016317616606807
HP:0000407HP:0000408Progressive sensorineural hearing impairment1IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA016317616606807
HP:0000407HP:0008625Severe sensorineural hearing impairment1IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA016317616606807
HP:0000407HP:0000410Mixed hearing impairment1KAT6B CL E G H23522648ORPHA0100317582605880
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1KAT6B CL E G H23522648ORPHA0100317582605880
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1KAT6B CL E G H23522648ORPHA0100317582605880
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1KAT6B CL E G H23522648ORPHA0100317582605880
HP:0000407HP:0008527Congenital sensorineural hearing impairment1KAT6B CL E G H23522648ORPHA0100317582605880
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1KAT6B CL E G H23522648ORPHA0100317582605880
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1KAT6B CL E G H23522648ORPHA0100317582605880
HP:0000407HP:0008587Mild neurosensory hearing impairment1KAT6B CL E G H23522648ORPHA0100317582605880
HP:0000407HP:0008504Moderate sensorineural hearing impairment1KAT6B CL E G H23522648ORPHA0100317582605880
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1KAT6B CL E G H23522648ORPHA0100317582605880
HP:0000407HP:0011476Profound sensorineural hearing impairment1KAT6B CL E G H23522648ORPHA0100317582605880
HP:0000407HP:0000408Progressive sensorineural hearing impairment1KAT6B CL E G H23522648ORPHA0100317582605880
HP:0000407HP:0008625Severe sensorineural hearing impairment1KAT6B CL E G H23522648ORPHA0100317582605880
HP:0000407HP:0000410Mixed hearing impairment1KCNAB2 CL E G H85141606ORPHA01146229601142
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1KCNAB2 CL E G H85141606ORPHA01146229601142
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1KCNAB2 CL E G H85141606ORPHA01146229601142
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1KCNAB2 CL E G H85141606ORPHA01146229601142
HP:0000407HP:0008527Congenital sensorineural hearing impairment1KCNAB2 CL E G H85141606ORPHA01146229601142
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1KCNAB2 CL E G H85141606ORPHA01146229601142
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1KCNAB2 CL E G H85141606ORPHA01146229601142
HP:0000407HP:0008587Mild neurosensory hearing impairment1KCNAB2 CL E G H85141606ORPHA01146229601142
HP:0000407HP:0008504Moderate sensorineural hearing impairment1KCNAB2 CL E G H85141606ORPHA01146229601142
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1KCNAB2 CL E G H85141606ORPHA01146229601142
HP:0000407HP:0011476Profound sensorineural hearing impairment1KCNAB2 CL E G H85141606ORPHA01146229601142
HP:0000407HP:0000408Progressive sensorineural hearing impairment1KCNAB2 CL E G H85141606ORPHA01146229601142
HP:0000407HP:0008625Severe sensorineural hearing impairment1KCNAB2 CL E G H85141606ORPHA01146229601142
HP:0000407HP:0000410Mixed hearing impairment1KCNH1 CL E G H37563473MeningoencephaloceleORPHA05666250603305
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1KCNH1 CL E G H37563473MeningoencephaloceleORPHA05666250603305
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1KCNH1 CL E G H37563473MeningoencephaloceleORPHA05666250603305
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1KCNH1 CL E G H37563473MeningoencephaloceleORPHA05666250603305
HP:0000407HP:0008527Congenital sensorineural hearing impairment1KCNH1 CL E G H37563473MeningoencephaloceleORPHA05666250603305
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1KCNH1 CL E G H37563473MeningoencephaloceleORPHA05666250603305
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1KCNH1 CL E G H37563473MeningoencephaloceleORPHA05666250603305
HP:0000407HP:0008587Mild neurosensory hearing impairment1KCNH1 CL E G H37563473MeningoencephaloceleORPHA05666250603305
HP:0000407HP:0008504Moderate sensorineural hearing impairment1KCNH1 CL E G H37563473MeningoencephaloceleORPHA05666250603305
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1KCNH1 CL E G H37563473MeningoencephaloceleORPHA05666250603305
HP:0000407HP:0011476Profound sensorineural hearing impairment1KCNH1 CL E G H37563473MeningoencephaloceleORPHA05666250603305
HP:0000407HP:0000408Progressive sensorineural hearing impairment1KCNH1 CL E G H37563473MeningoencephaloceleORPHA05666250603305
HP:0000407HP:0008625Severe sensorineural hearing impairment1KCNH1 CL E G H37563473MeningoencephaloceleORPHA05666250603305
HP:0000407HP:0000410Mixed hearing impairment1KIF7 CL E G H37465436Chromosome 3 duplication syndromeC2931333ORPHA0140130497611254
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1KIF7 CL E G H37465436Chromosome 3 duplication syndromeC2931333ORPHA0140130497611254
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1KIF7 CL E G H37465436Chromosome 3 duplication syndromeC2931333ORPHA0140130497611254
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1KIF7 CL E G H37465436Chromosome 3 duplication syndromeC2931333ORPHA0140130497611254
HP:0000407HP:0008527Congenital sensorineural hearing impairment1KIF7 CL E G H37465436Chromosome 3 duplication syndromeC2931333ORPHA0140130497611254
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1KIF7 CL E G H37465436Chromosome 3 duplication syndromeC2931333ORPHA0140130497611254
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1KIF7 CL E G H37465436Chromosome 3 duplication syndromeC2931333ORPHA0140130497611254
HP:0000407HP:0008587Mild neurosensory hearing impairment1KIF7 CL E G H37465436Chromosome 3 duplication syndromeC2931333ORPHA0140130497611254
HP:0000407HP:0008504Moderate sensorineural hearing impairment1KIF7 CL E G H37465436Chromosome 3 duplication syndromeC2931333ORPHA0140130497611254
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1KIF7 CL E G H37465436Chromosome 3 duplication syndromeC2931333ORPHA0140130497611254
HP:0000407HP:0011476Profound sensorineural hearing impairment1KIF7 CL E G H37465436Chromosome 3 duplication syndromeC2931333ORPHA0140130497611254
HP:0000407HP:0000408Progressive sensorineural hearing impairment1KIF7 CL E G H37465436Chromosome 3 duplication syndromeC2931333ORPHA0140130497611254
HP:0000407HP:0008625Severe sensorineural hearing impairment1KIF7 CL E G H37465436Chromosome 3 duplication syndromeC2931333ORPHA0140130497611254
HP:0000407HP:0000410Mixed hearing impairment1KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA01544510604161
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA01544510604161
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA01544510604161
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA01544510604161
HP:0000407HP:0008527Congenital sensorineural hearing impairment1KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA01544510604161
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA01544510604161
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA01544510604161
HP:0000407HP:0008587Mild neurosensory hearing impairment1KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA01544510604161
HP:0000407HP:0008504Moderate sensorineural hearing impairment1KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA01544510604161
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA01544510604161
HP:0000407HP:0011476Profound sensorineural hearing impairment1KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA01544510604161
HP:0000407HP:0000408Progressive sensorineural hearing impairment1KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA01544510604161
HP:0000407HP:0008625Severe sensorineural hearing impairment1KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA01544510604161
HP:0000407HP:0000410Mixed hearing impairment1KRAS CL E G H3845648ORPHA04806407190070
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1KRAS CL E G H3845648ORPHA04806407190070
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1KRAS CL E G H3845648ORPHA04806407190070
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1KRAS CL E G H3845648ORPHA04806407190070
HP:0000407HP:0008527Congenital sensorineural hearing impairment1KRAS CL E G H3845648ORPHA04806407190070
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1KRAS CL E G H3845648ORPHA04806407190070
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1KRAS CL E G H3845648ORPHA04806407190070
HP:0000407HP:0008587Mild neurosensory hearing impairment1KRAS CL E G H3845648ORPHA04806407190070
HP:0000407HP:0008504Moderate sensorineural hearing impairment1KRAS CL E G H3845648ORPHA04806407190070
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1KRAS CL E G H3845648ORPHA04806407190070
HP:0000407HP:0011476Profound sensorineural hearing impairment1KRAS CL E G H3845648ORPHA04806407190070
HP:0000407HP:0000408Progressive sensorineural hearing impairment1KRAS CL E G H3845648ORPHA04806407190070
HP:0000407HP:0008625Severe sensorineural hearing impairment1KRAS CL E G H3845648ORPHA04806407190070
HP:0000407HP:0000410Mixed hearing impairment1LAMA4 CL E G H3910154Sandhaus Ben-Ami syndromeORPHA016136484600133
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1LAMA4 CL E G H3910154Sandhaus Ben-Ami syndromeORPHA016136484600133
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1LAMA4 CL E G H3910154Sandhaus Ben-Ami syndromeORPHA016136484600133
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1LAMA4 CL E G H3910154Sandhaus Ben-Ami syndromeORPHA016136484600133
HP:0000407HP:0008527Congenital sensorineural hearing impairment1LAMA4 CL E G H3910154Sandhaus Ben-Ami syndromeORPHA016136484600133
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1LAMA4 CL E G H3910154Sandhaus Ben-Ami syndromeORPHA016136484600133
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1LAMA4 CL E G H3910154Sandhaus Ben-Ami syndromeORPHA016136484600133
HP:0000407HP:0008587Mild neurosensory hearing impairment1LAMA4 CL E G H3910154Sandhaus Ben-Ami syndromeORPHA016136484600133
HP:0000407HP:0008504Moderate sensorineural hearing impairment1LAMA4 CL E G H3910154Sandhaus Ben-Ami syndromeORPHA016136484600133
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1LAMA4 CL E G H3910154Sandhaus Ben-Ami syndromeORPHA016136484600133
HP:0000407HP:0011476Profound sensorineural hearing impairment1LAMA4 CL E G H3910154Sandhaus Ben-Ami syndromeORPHA016136484600133
HP:0000407HP:0000408Progressive sensorineural hearing impairment1LAMA4 CL E G H3910154Sandhaus Ben-Ami syndromeORPHA016136484600133
HP:0000407HP:0008625Severe sensorineural hearing impairment1LAMA4 CL E G H3910154Sandhaus Ben-Ami syndromeORPHA016136484600133
HP:0000407HP:0000410Mixed hearing impairment1LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM06512151350
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM06512151350
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM06512151350
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM06512151350
HP:0000407HP:0008527Congenital sensorineural hearing impairment1LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM06512151350
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM06512151350
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM06512151350
HP:0000407HP:0008587Mild neurosensory hearing impairment1LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM06512151350
HP:0000407HP:0008504Moderate sensorineural hearing impairment1LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM06512151350
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM06512151350
HP:0000407HP:0011476Profound sensorineural hearing impairment1LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM06512151350
HP:0000407HP:0000408Progressive sensorineural hearing impairment1LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM06512151350
HP:0000407HP:0008625Severe sensorineural hearing impairment1LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM06512151350
HP:0000407HP:0000410Mixed hearing impairment1LDB3 CL E G H11155154Sandhaus Ben-Ami syndromeORPHA0122615710605906
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1LDB3 CL E G H11155154Sandhaus Ben-Ami syndromeORPHA0122615710605906
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1LDB3 CL E G H11155154Sandhaus Ben-Ami syndromeORPHA0122615710605906
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1LDB3 CL E G H11155154Sandhaus Ben-Ami syndromeORPHA0122615710605906
HP:0000407HP:0008527Congenital sensorineural hearing impairment1LDB3 CL E G H11155154Sandhaus Ben-Ami syndromeORPHA0122615710605906
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1LDB3 CL E G H11155154Sandhaus Ben-Ami syndromeORPHA0122615710605906
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1LDB3 CL E G H11155154Sandhaus Ben-Ami syndromeORPHA0122615710605906
HP:0000407HP:0008587Mild neurosensory hearing impairment1LDB3 CL E G H11155154Sandhaus Ben-Ami syndromeORPHA0122615710605906
HP:0000407HP:0008504Moderate sensorineural hearing impairment1LDB3 CL E G H11155154Sandhaus Ben-Ami syndromeORPHA0122615710605906
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1LDB3 CL E G H11155154Sandhaus Ben-Ami syndromeORPHA0122615710605906
HP:0000407HP:0011476Profound sensorineural hearing impairment1LDB3 CL E G H11155154Sandhaus Ben-Ami syndromeORPHA0122615710605906
HP:0000407HP:0000408Progressive sensorineural hearing impairment1LDB3 CL E G H11155154Sandhaus Ben-Ami syndromeORPHA0122615710605906
HP:0000407HP:0008625Severe sensorineural hearing impairment1LDB3 CL E G H11155154Sandhaus Ben-Ami syndromeORPHA0122615710605906
HP:0000407HP:0000410Mixed hearing impairment1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM03676556604407
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM03676556604407
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM03676556604407
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM03676556604407
HP:0000407HP:0008527Congenital sensorineural hearing impairment1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM03676556604407
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM03676556604407
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM03676556604407
HP:0000407HP:0008587Mild neurosensory hearing impairment1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM03676556604407
HP:0000407HP:0008504Moderate sensorineural hearing impairment1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM03676556604407
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM03676556604407
HP:0000407HP:0011476Profound sensorineural hearing impairment1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM03676556604407
HP:0000407HP:0000408Progressive sensorineural hearing impairment1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM03676556604407
HP:0000407HP:0008625Severe sensorineural hearing impairment1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM03676556604407
HP:0000407HP:0000410Mixed hearing impairment1LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM07499479605490
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM07499479605490
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM07499479605490
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM07499479605490
HP:0000407HP:0008527Congenital sensorineural hearing impairment1LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM07499479605490
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM07499479605490
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM07499479605490
HP:0000407HP:0008587Mild neurosensory hearing impairment1LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM07499479605490
HP:0000407HP:0008504Moderate sensorineural hearing impairment1LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM07499479605490
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM07499479605490
HP:0000407HP:0011476Profound sensorineural hearing impairment1LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM07499479605490
HP:0000407HP:0000408Progressive sensorineural hearing impairment1LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM07499479605490
HP:0000407HP:0008625Severe sensorineural hearing impairment1LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM07499479605490
HP:0000407HP:0000410Mixed hearing impairment1LOR CL E G H401479395ORPHA06663152445
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1LOR CL E G H401479395ORPHA06663152445
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1LOR CL E G H401479395ORPHA06663152445
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1LOR CL E G H401479395ORPHA06663152445
HP:0000407HP:0008527Congenital sensorineural hearing impairment1LOR CL E G H401479395ORPHA06663152445
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1LOR CL E G H401479395ORPHA06663152445
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1LOR CL E G H401479395ORPHA06663152445
HP:0000407HP:0008587Mild neurosensory hearing impairment1LOR CL E G H401479395ORPHA06663152445
HP:0000407HP:0008504Moderate sensorineural hearing impairment1LOR CL E G H401479395ORPHA06663152445
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1LOR CL E G H401479395ORPHA06663152445
HP:0000407HP:0011476Profound sensorineural hearing impairment1LOR CL E G H401479395ORPHA06663152445
HP:0000407HP:0000408Progressive sensorineural hearing impairment1LOR CL E G H401479395ORPHA06663152445
HP:0000407HP:0008625Severe sensorineural hearing impairment1LOR CL E G H401479395ORPHA06663152445
HP:0000407HP:0000410Mixed hearing impairment1LRP2 CL E G H4036222448Donnai Barrow syndrome222448C1857277OMIM029376694600073
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1LRP2 CL E G H4036222448Donnai Barrow syndrome222448C1857277OMIM029376694600073
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1LRP2 CL E G H4036222448Donnai Barrow syndrome222448C1857277OMIM029376694600073
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1LRP2 CL E G H4036222448Donnai Barrow syndrome222448C1857277OMIM029376694600073
HP:0000407HP:0008527Congenital sensorineural hearing impairment1LRP2 CL E G H4036222448Donnai Barrow syndrome222448C1857277OMIM029376694600073
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1LRP2 CL E G H4036222448Donnai Barrow syndrome222448C1857277OMIM029376694600073
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1LRP2 CL E G H4036222448Donnai Barrow syndrome222448C1857277OMIM029376694600073
HP:0000407HP:0008587Mild neurosensory hearing impairment1LRP2 CL E G H4036222448Donnai Barrow syndrome222448C1857277OMIM029376694600073
HP:0000407HP:0008504Moderate sensorineural hearing impairment1LRP2 CL E G H4036222448Donnai Barrow syndrome222448C1857277OMIM029376694600073
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1LRP2 CL E G H4036222448Donnai Barrow syndrome222448C1857277OMIM029376694600073
HP:0000407HP:0011476Profound sensorineural hearing impairment1LRP2 CL E G H4036222448Donnai Barrow syndrome222448C1857277OMIM029376694600073
HP:0000407HP:0000408Progressive sensorineural hearing impairment1LRP2 CL E G H4036222448Donnai Barrow syndrome222448C1857277OMIM029376694600073
HP:0000407HP:0008625Severe sensorineural hearing impairment1LRP2 CL E G H4036222448Donnai Barrow syndrome222448C1857277OMIM029376694600073
HP:0000407HP:0000410Mixed hearing impairment1LRP5 CL E G H40412790ORPHA018196697603506
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1LRP5 CL E G H40412790ORPHA018196697603506
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1LRP5 CL E G H40412790ORPHA018196697603506
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1LRP5 CL E G H40412790ORPHA018196697603506
HP:0000407HP:0008527Congenital sensorineural hearing impairment1LRP5 CL E G H40412790ORPHA018196697603506
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1LRP5 CL E G H40412790ORPHA018196697603506
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1LRP5 CL E G H40412790ORPHA018196697603506
HP:0000407HP:0008587Mild neurosensory hearing impairment1LRP5 CL E G H40412790ORPHA018196697603506
HP:0000407HP:0008504Moderate sensorineural hearing impairment1LRP5 CL E G H40412790ORPHA018196697603506
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1LRP5 CL E G H40412790ORPHA018196697603506
HP:0000407HP:0011476Profound sensorineural hearing impairment1LRP5 CL E G H40412790ORPHA018196697603506
HP:0000407HP:0000408Progressive sensorineural hearing impairment1LRP5 CL E G H40412790ORPHA018196697603506
HP:0000407HP:0008625Severe sensorineural hearing impairment1LRP5 CL E G H40412790ORPHA018196697603506
HP:0000407HP:0000410Mixed hearing impairment1LZTR1 CL E G H8216648ORPHA028596742600574
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1LZTR1 CL E G H8216648ORPHA028596742600574
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1LZTR1 CL E G H8216648ORPHA028596742600574
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1LZTR1 CL E G H8216648ORPHA028596742600574
HP:0000407HP:0008527Congenital sensorineural hearing impairment1LZTR1 CL E G H8216648ORPHA028596742600574
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1LZTR1 CL E G H8216648ORPHA028596742600574
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1LZTR1 CL E G H8216648ORPHA028596742600574
HP:0000407HP:0008587Mild neurosensory hearing impairment1LZTR1 CL E G H8216648ORPHA028596742600574
HP:0000407HP:0008504Moderate sensorineural hearing impairment1LZTR1 CL E G H8216648ORPHA028596742600574
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1LZTR1 CL E G H8216648ORPHA028596742600574
HP:0000407HP:0011476Profound sensorineural hearing impairment1LZTR1 CL E G H8216648ORPHA028596742600574
HP:0000407HP:0000408Progressive sensorineural hearing impairment1LZTR1 CL E G H8216648ORPHA028596742600574
HP:0000407HP:0008625Severe sensorineural hearing impairment1LZTR1 CL E G H8216648ORPHA028596742600574
HP:0000407HP:0000410Mixed hearing impairment1MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM02356859602614
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM02356859602614
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM02356859602614
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM02356859602614
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM02356859602614
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM02356859602614
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM02356859602614
HP:0000407HP:0008587Mild neurosensory hearing impairment1MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM02356859602614
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM02356859602614
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM02356859602614
HP:0000407HP:0011476Profound sensorineural hearing impairment1MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM02356859602614
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM02356859602614
HP:0000407HP:0008625Severe sensorineural hearing impairment1MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM02356859602614
HP:0000407HP:0000410Mixed hearing impairment1MAPK1 CL E G H5594261330ORPHA01406871176948
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MAPK1 CL E G H5594261330ORPHA01406871176948
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MAPK1 CL E G H5594261330ORPHA01406871176948
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MAPK1 CL E G H5594261330ORPHA01406871176948
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MAPK1 CL E G H5594261330ORPHA01406871176948
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MAPK1 CL E G H5594261330ORPHA01406871176948
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MAPK1 CL E G H5594261330ORPHA01406871176948
HP:0000407HP:0008587Mild neurosensory hearing impairment1MAPK1 CL E G H5594261330ORPHA01406871176948
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MAPK1 CL E G H5594261330ORPHA01406871176948
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MAPK1 CL E G H5594261330ORPHA01406871176948
HP:0000407HP:0011476Profound sensorineural hearing impairment1MAPK1 CL E G H5594261330ORPHA01406871176948
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MAPK1 CL E G H5594261330ORPHA01406871176948
HP:0000407HP:0008625Severe sensorineural hearing impairment1MAPK1 CL E G H5594261330ORPHA01406871176948
HP:0000407HP:0000410Mixed hearing impairment1MECOM CL E G H212271289ORPHA02603498165215
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MECOM CL E G H212271289ORPHA02603498165215
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MECOM CL E G H212271289ORPHA02603498165215
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MECOM CL E G H212271289ORPHA02603498165215
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MECOM CL E G H212271289ORPHA02603498165215
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MECOM CL E G H212271289ORPHA02603498165215
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MECOM CL E G H212271289ORPHA02603498165215
HP:0000407HP:0008587Mild neurosensory hearing impairment1MECOM CL E G H212271289ORPHA02603498165215
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MECOM CL E G H212271289ORPHA02603498165215
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MECOM CL E G H212271289ORPHA02603498165215
HP:0000407HP:0011476Profound sensorineural hearing impairment1MECOM CL E G H212271289ORPHA02603498165215
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MECOM CL E G H212271289ORPHA02603498165215
HP:0000407HP:0008625Severe sensorineural hearing impairment1MECOM CL E G H212271289ORPHA02603498165215
HP:0000407HP:0000410Mixed hearing impairment1MECOM CL E G H2122616738Radioulnar synostosis with amegakaryocytic thrombocytopenia 2616738C4225221OMIM02603498165215
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MECOM CL E G H2122616738Radioulnar synostosis with amegakaryocytic thrombocytopenia 2616738C4225221OMIM02603498165215
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MECOM CL E G H2122616738Radioulnar synostosis with amegakaryocytic thrombocytopenia 2616738C4225221OMIM02603498165215
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MECOM CL E G H2122616738Radioulnar synostosis with amegakaryocytic thrombocytopenia 2616738C4225221OMIM02603498165215
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MECOM CL E G H2122616738Radioulnar synostosis with amegakaryocytic thrombocytopenia 2616738C4225221OMIM02603498165215
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MECOM CL E G H2122616738Radioulnar synostosis with amegakaryocytic thrombocytopenia 2616738C4225221OMIM02603498165215
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MECOM CL E G H2122616738Radioulnar synostosis with amegakaryocytic thrombocytopenia 2616738C4225221OMIM02603498165215
HP:0000407HP:0008587Mild neurosensory hearing impairment1MECOM CL E G H2122616738Radioulnar synostosis with amegakaryocytic thrombocytopenia 2616738C4225221OMIM02603498165215
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MECOM CL E G H2122616738Radioulnar synostosis with amegakaryocytic thrombocytopenia 2616738C4225221OMIM02603498165215
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MECOM CL E G H2122616738Radioulnar synostosis with amegakaryocytic thrombocytopenia 2616738C4225221OMIM02603498165215
HP:0000407HP:0011476Profound sensorineural hearing impairment1MECOM CL E G H2122616738Radioulnar synostosis with amegakaryocytic thrombocytopenia 2616738C4225221OMIM02603498165215
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MECOM CL E G H2122616738Radioulnar synostosis with amegakaryocytic thrombocytopenia 2616738C4225221OMIM02603498165215
HP:0000407HP:0008625Severe sensorineural hearing impairment1MECOM CL E G H2122616738Radioulnar synostosis with amegakaryocytic thrombocytopenia 2616738C4225221OMIM02603498165215
HP:0000407HP:0000410Mixed hearing impairment1MEGF8 CL E G H1954614976Carpenter syndrome 2614976C3554247OMIM07123233604267
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MEGF8 CL E G H1954614976Carpenter syndrome 2614976C3554247OMIM07123233604267
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MEGF8 CL E G H1954614976Carpenter syndrome 2614976C3554247OMIM07123233604267
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MEGF8 CL E G H1954614976Carpenter syndrome 2614976C3554247OMIM07123233604267
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MEGF8 CL E G H1954614976Carpenter syndrome 2614976C3554247OMIM07123233604267
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MEGF8 CL E G H1954614976Carpenter syndrome 2614976C3554247OMIM07123233604267
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MEGF8 CL E G H1954614976Carpenter syndrome 2614976C3554247OMIM07123233604267
HP:0000407HP:0008587Mild neurosensory hearing impairment1MEGF8 CL E G H1954614976Carpenter syndrome 2614976C3554247OMIM07123233604267
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MEGF8 CL E G H1954614976Carpenter syndrome 2614976C3554247OMIM07123233604267
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MEGF8 CL E G H1954614976Carpenter syndrome 2614976C3554247OMIM07123233604267
HP:0000407HP:0011476Profound sensorineural hearing impairment1MEGF8 CL E G H1954614976Carpenter syndrome 2614976C3554247OMIM07123233604267
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MEGF8 CL E G H1954614976Carpenter syndrome 2614976C3554247OMIM07123233604267
HP:0000407HP:0008625Severe sensorineural hearing impairment1MEGF8 CL E G H1954614976Carpenter syndrome 2614976C3554247OMIM07123233604267
HP:0000407HP:0000410Mixed hearing impairment1MET CL E G H4233616705Deafness, autosomal recessive 97616705C4084709OMIM031847029164860
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MET CL E G H4233616705Deafness, autosomal recessive 97616705C4084709OMIM031847029164860
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MET CL E G H4233616705Deafness, autosomal recessive 97616705C4084709OMIM031847029164860
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MET CL E G H4233616705Deafness, autosomal recessive 97616705C4084709OMIM031847029164860
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MET CL E G H4233616705Deafness, autosomal recessive 97616705C4084709OMIM031847029164860
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MET CL E G H4233616705Deafness, autosomal recessive 97616705C4084709OMIM031847029164860
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MET CL E G H4233616705Deafness, autosomal recessive 97616705C4084709OMIM031847029164860
HP:0000407HP:0008587Mild neurosensory hearing impairment1MET CL E G H4233616705Deafness, autosomal recessive 97616705C4084709OMIM031847029164860
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MET CL E G H4233616705Deafness, autosomal recessive 97616705C4084709OMIM031847029164860
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MET CL E G H4233616705Deafness, autosomal recessive 97616705C4084709OMIM031847029164860
HP:0000407HP:0011476Profound sensorineural hearing impairment1MET CL E G H4233616705Deafness, autosomal recessive 97616705C4084709OMIM031847029164860
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MET CL E G H4233616705Deafness, autosomal recessive 97616705C4084709OMIM031847029164860
HP:0000407HP:0008625Severe sensorineural hearing impairment1MET CL E G H4233616705Deafness, autosomal recessive 97616705C4084709OMIM031847029164860
HP:0000407HP:0000410Mixed hearing impairment1MFN2 CL E G H992799947ORPHA0122216877608507
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MFN2 CL E G H992799947ORPHA0122216877608507
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MFN2 CL E G H992799947ORPHA0122216877608507
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MFN2 CL E G H992799947ORPHA0122216877608507
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MFN2 CL E G H992799947ORPHA0122216877608507
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MFN2 CL E G H992799947ORPHA0122216877608507
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MFN2 CL E G H992799947ORPHA0122216877608507
HP:0000407HP:0008587Mild neurosensory hearing impairment1MFN2 CL E G H992799947ORPHA0122216877608507
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MFN2 CL E G H992799947ORPHA0122216877608507
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MFN2 CL E G H992799947ORPHA0122216877608507
HP:0000407HP:0011476Profound sensorineural hearing impairment1MFN2 CL E G H992799947ORPHA0122216877608507
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MFN2 CL E G H992799947ORPHA0122216877608507
HP:0000407HP:0008625Severe sensorineural hearing impairment1MFN2 CL E G H992799947ORPHA0122216877608507
HP:0000407HP:0000410Mixed hearing impairment1MPDZ CL E G H8777615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies615219C3554691OMIM016107208603785
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MPDZ CL E G H8777615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies615219C3554691OMIM016107208603785
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MPDZ CL E G H8777615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies615219C3554691OMIM016107208603785
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MPDZ CL E G H8777615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies615219C3554691OMIM016107208603785
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MPDZ CL E G H8777615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies615219C3554691OMIM016107208603785
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MPDZ CL E G H8777615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies615219C3554691OMIM016107208603785
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MPDZ CL E G H8777615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies615219C3554691OMIM016107208603785
HP:0000407HP:0008587Mild neurosensory hearing impairment1MPDZ CL E G H8777615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies615219C3554691OMIM016107208603785
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MPDZ CL E G H8777615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies615219C3554691OMIM016107208603785
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MPDZ CL E G H8777615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies615219C3554691OMIM016107208603785
HP:0000407HP:0011476Profound sensorineural hearing impairment1MPDZ CL E G H8777615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies615219C3554691OMIM016107208603785
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MPDZ CL E G H8777615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies615219C3554691OMIM016107208603785
HP:0000407HP:0008625Severe sensorineural hearing impairment1MPDZ CL E G H8777615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies615219C3554691OMIM016107208603785
HP:0000407HP:0000410Mixed hearing impairment1MT-TE CL E G H45562596HantavirosisORPHA07479590025
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MT-TE CL E G H45562596HantavirosisORPHA07479590025
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MT-TE CL E G H45562596HantavirosisORPHA07479590025
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MT-TE CL E G H45562596HantavirosisORPHA07479590025
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MT-TE CL E G H45562596HantavirosisORPHA07479590025
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MT-TE CL E G H45562596HantavirosisORPHA07479590025
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MT-TE CL E G H45562596HantavirosisORPHA07479590025
HP:0000407HP:0008587Mild neurosensory hearing impairment1MT-TE CL E G H45562596HantavirosisORPHA07479590025
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MT-TE CL E G H45562596HantavirosisORPHA07479590025
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MT-TE CL E G H45562596HantavirosisORPHA07479590025
HP:0000407HP:0011476Profound sensorineural hearing impairment1MT-TE CL E G H45562596HantavirosisORPHA07479590025
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MT-TE CL E G H45562596HantavirosisORPHA07479590025
HP:0000407HP:0008625Severe sensorineural hearing impairment1MT-TE CL E G H45562596HantavirosisORPHA07479590025
HP:0000407HP:0000410Mixed hearing impairment1MYBPC3 CL E G H4607154Sandhaus Ben-Ami syndromeORPHA033177551600958
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MYBPC3 CL E G H4607154Sandhaus Ben-Ami syndromeORPHA033177551600958
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MYBPC3 CL E G H4607154Sandhaus Ben-Ami syndromeORPHA033177551600958
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MYBPC3 CL E G H4607154Sandhaus Ben-Ami syndromeORPHA033177551600958
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MYBPC3 CL E G H4607154Sandhaus Ben-Ami syndromeORPHA033177551600958
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MYBPC3 CL E G H4607154Sandhaus Ben-Ami syndromeORPHA033177551600958
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MYBPC3 CL E G H4607154Sandhaus Ben-Ami syndromeORPHA033177551600958
HP:0000407HP:0008587Mild neurosensory hearing impairment1MYBPC3 CL E G H4607154Sandhaus Ben-Ami syndromeORPHA033177551600958
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MYBPC3 CL E G H4607154Sandhaus Ben-Ami syndromeORPHA033177551600958
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MYBPC3 CL E G H4607154Sandhaus Ben-Ami syndromeORPHA033177551600958
HP:0000407HP:0011476Profound sensorineural hearing impairment1MYBPC3 CL E G H4607154Sandhaus Ben-Ami syndromeORPHA033177551600958
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MYBPC3 CL E G H4607154Sandhaus Ben-Ami syndromeORPHA033177551600958
HP:0000407HP:0008625Severe sensorineural hearing impairment1MYBPC3 CL E G H4607154Sandhaus Ben-Ami syndromeORPHA033177551600958
HP:0000407HP:0000410Mixed hearing impairment1MYH6 CL E G H4624154Sandhaus Ben-Ami syndromeORPHA021167576160710
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MYH6 CL E G H4624154Sandhaus Ben-Ami syndromeORPHA021167576160710
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MYH6 CL E G H4624154Sandhaus Ben-Ami syndromeORPHA021167576160710
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MYH6 CL E G H4624154Sandhaus Ben-Ami syndromeORPHA021167576160710
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MYH6 CL E G H4624154Sandhaus Ben-Ami syndromeORPHA021167576160710
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MYH6 CL E G H4624154Sandhaus Ben-Ami syndromeORPHA021167576160710
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MYH6 CL E G H4624154Sandhaus Ben-Ami syndromeORPHA021167576160710
HP:0000407HP:0008587Mild neurosensory hearing impairment1MYH6 CL E G H4624154Sandhaus Ben-Ami syndromeORPHA021167576160710
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MYH6 CL E G H4624154Sandhaus Ben-Ami syndromeORPHA021167576160710
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MYH6 CL E G H4624154Sandhaus Ben-Ami syndromeORPHA021167576160710
HP:0000407HP:0011476Profound sensorineural hearing impairment1MYH6 CL E G H4624154Sandhaus Ben-Ami syndromeORPHA021167576160710
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MYH6 CL E G H4624154Sandhaus Ben-Ami syndromeORPHA021167576160710
HP:0000407HP:0008625Severe sensorineural hearing impairment1MYH6 CL E G H4624154Sandhaus Ben-Ami syndromeORPHA021167576160710
HP:0000407HP:0000410Mixed hearing impairment1MYH7 CL E G H4625154Sandhaus Ben-Ami syndromeORPHA041067577160760
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MYH7 CL E G H4625154Sandhaus Ben-Ami syndromeORPHA041067577160760
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MYH7 CL E G H4625154Sandhaus Ben-Ami syndromeORPHA041067577160760
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MYH7 CL E G H4625154Sandhaus Ben-Ami syndromeORPHA041067577160760
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MYH7 CL E G H4625154Sandhaus Ben-Ami syndromeORPHA041067577160760
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MYH7 CL E G H4625154Sandhaus Ben-Ami syndromeORPHA041067577160760
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MYH7 CL E G H4625154Sandhaus Ben-Ami syndromeORPHA041067577160760
HP:0000407HP:0008587Mild neurosensory hearing impairment1MYH7 CL E G H4625154Sandhaus Ben-Ami syndromeORPHA041067577160760
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MYH7 CL E G H4625154Sandhaus Ben-Ami syndromeORPHA041067577160760
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MYH7 CL E G H4625154Sandhaus Ben-Ami syndromeORPHA041067577160760
HP:0000407HP:0011476Profound sensorineural hearing impairment1MYH7 CL E G H4625154Sandhaus Ben-Ami syndromeORPHA041067577160760
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MYH7 CL E G H4625154Sandhaus Ben-Ami syndromeORPHA041067577160760
HP:0000407HP:0008625Severe sensorineural hearing impairment1MYH7 CL E G H4625154Sandhaus Ben-Ami syndromeORPHA041067577160760
HP:0000407HP:0000410Mixed hearing impairment1MYO9A CL E G H464998914ORPHA02807608604875
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MYO9A CL E G H464998914ORPHA02807608604875
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MYO9A CL E G H464998914ORPHA02807608604875
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MYO9A CL E G H464998914ORPHA02807608604875
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MYO9A CL E G H464998914ORPHA02807608604875
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MYO9A CL E G H464998914ORPHA02807608604875
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MYO9A CL E G H464998914ORPHA02807608604875
HP:0000407HP:0008587Mild neurosensory hearing impairment1MYO9A CL E G H464998914ORPHA02807608604875
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MYO9A CL E G H464998914ORPHA02807608604875
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MYO9A CL E G H464998914ORPHA02807608604875
HP:0000407HP:0011476Profound sensorineural hearing impairment1MYO9A CL E G H464998914ORPHA02807608604875
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MYO9A CL E G H464998914ORPHA02807608604875
HP:0000407HP:0008625Severe sensorineural hearing impairment1MYO9A CL E G H464998914ORPHA02807608604875
HP:0000407HP:0000410Mixed hearing impairment1MYPN CL E G H84665154Sandhaus Ben-Ami syndromeORPHA0148523246608517
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1MYPN CL E G H84665154Sandhaus Ben-Ami syndromeORPHA0148523246608517
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1MYPN CL E G H84665154Sandhaus Ben-Ami syndromeORPHA0148523246608517
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1MYPN CL E G H84665154Sandhaus Ben-Ami syndromeORPHA0148523246608517
HP:0000407HP:0008527Congenital sensorineural hearing impairment1MYPN CL E G H84665154Sandhaus Ben-Ami syndromeORPHA0148523246608517
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1MYPN CL E G H84665154Sandhaus Ben-Ami syndromeORPHA0148523246608517
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1MYPN CL E G H84665154Sandhaus Ben-Ami syndromeORPHA0148523246608517
HP:0000407HP:0008587Mild neurosensory hearing impairment1MYPN CL E G H84665154Sandhaus Ben-Ami syndromeORPHA0148523246608517
HP:0000407HP:0008504Moderate sensorineural hearing impairment1MYPN CL E G H84665154Sandhaus Ben-Ami syndromeORPHA0148523246608517
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1MYPN CL E G H84665154Sandhaus Ben-Ami syndromeORPHA0148523246608517
HP:0000407HP:0011476Profound sensorineural hearing impairment1MYPN CL E G H84665154Sandhaus Ben-Ami syndromeORPHA0148523246608517
HP:0000407HP:0000408Progressive sensorineural hearing impairment1MYPN CL E G H84665154Sandhaus Ben-Ami syndromeORPHA0148523246608517
HP:0000407HP:0008625Severe sensorineural hearing impairment1MYPN CL E G H84665154Sandhaus Ben-Ami syndromeORPHA0148523246608517
HP:0000407HP:0000410Mixed hearing impairment1NDP CL E G H4693649ORPHA02997678300658
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1NDP CL E G H4693649ORPHA02997678300658
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1NDP CL E G H4693649ORPHA02997678300658
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1NDP CL E G H4693649ORPHA02997678300658
HP:0000407HP:0008527Congenital sensorineural hearing impairment1NDP CL E G H4693649ORPHA02997678300658
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1NDP CL E G H4693649ORPHA02997678300658
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1NDP CL E G H4693649ORPHA02997678300658
HP:0000407HP:0008587Mild neurosensory hearing impairment1NDP CL E G H4693649ORPHA02997678300658
HP:0000407HP:0008504Moderate sensorineural hearing impairment1NDP CL E G H4693649ORPHA02997678300658
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1NDP CL E G H4693649ORPHA02997678300658
HP:0000407HP:0011476Profound sensorineural hearing impairment1NDP CL E G H4693649ORPHA02997678300658
HP:0000407HP:0000408Progressive sensorineural hearing impairment1NDP CL E G H4693649ORPHA02997678300658
HP:0000407HP:0008625Severe sensorineural hearing impairment1NDP CL E G H4693649ORPHA02997678300658
HP:0000407HP:0000410Mixed hearing impairment1NEBL CL E G H10529154Sandhaus Ben-Ami syndromeORPHA0101616932605491
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1NEBL CL E G H10529154Sandhaus Ben-Ami syndromeORPHA0101616932605491
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1NEBL CL E G H10529154Sandhaus Ben-Ami syndromeORPHA0101616932605491
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1NEBL CL E G H10529154Sandhaus Ben-Ami syndromeORPHA0101616932605491
HP:0000407HP:0008527Congenital sensorineural hearing impairment1NEBL CL E G H10529154Sandhaus Ben-Ami syndromeORPHA0101616932605491
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1NEBL CL E G H10529154Sandhaus Ben-Ami syndromeORPHA0101616932605491
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1NEBL CL E G H10529154Sandhaus Ben-Ami syndromeORPHA0101616932605491
HP:0000407HP:0008587Mild neurosensory hearing impairment1NEBL CL E G H10529154Sandhaus Ben-Ami syndromeORPHA0101616932605491
HP:0000407HP:0008504Moderate sensorineural hearing impairment1NEBL CL E G H10529154Sandhaus Ben-Ami syndromeORPHA0101616932605491
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1NEBL CL E G H10529154Sandhaus Ben-Ami syndromeORPHA0101616932605491
HP:0000407HP:0011476Profound sensorineural hearing impairment1NEBL CL E G H10529154Sandhaus Ben-Ami syndromeORPHA0101616932605491
HP:0000407HP:0000408Progressive sensorineural hearing impairment1NEBL CL E G H10529154Sandhaus Ben-Ami syndromeORPHA0101616932605491
HP:0000407HP:0008625Severe sensorineural hearing impairment1NEBL CL E G H10529154Sandhaus Ben-Ami syndromeORPHA0101616932605491
HP:0000407HP:0000410Mixed hearing impairment1NEXN CL E G H91624154Sandhaus Ben-Ami syndromeORPHA066929557613121
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1NEXN CL E G H91624154Sandhaus Ben-Ami syndromeORPHA066929557613121
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1NEXN CL E G H91624154Sandhaus Ben-Ami syndromeORPHA066929557613121
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1NEXN CL E G H91624154Sandhaus Ben-Ami syndromeORPHA066929557613121
HP:0000407HP:0008527Congenital sensorineural hearing impairment1NEXN CL E G H91624154Sandhaus Ben-Ami syndromeORPHA066929557613121
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1NEXN CL E G H91624154Sandhaus Ben-Ami syndromeORPHA066929557613121
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1NEXN CL E G H91624154Sandhaus Ben-Ami syndromeORPHA066929557613121
HP:0000407HP:0008587Mild neurosensory hearing impairment1NEXN CL E G H91624154Sandhaus Ben-Ami syndromeORPHA066929557613121
HP:0000407HP:0008504Moderate sensorineural hearing impairment1NEXN CL E G H91624154Sandhaus Ben-Ami syndromeORPHA066929557613121
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1NEXN CL E G H91624154Sandhaus Ben-Ami syndromeORPHA066929557613121
HP:0000407HP:0011476Profound sensorineural hearing impairment1NEXN CL E G H91624154Sandhaus Ben-Ami syndromeORPHA066929557613121
HP:0000407HP:0000408Progressive sensorineural hearing impairment1NEXN CL E G H91624154Sandhaus Ben-Ami syndromeORPHA066929557613121
HP:0000407HP:0008625Severe sensorineural hearing impairment1NEXN CL E G H91624154Sandhaus Ben-Ami syndromeORPHA066929557613121
HP:0000407HP:0000410Mixed hearing impairment1NLRC4 CL E G H5848447045ORPHA064316412606831
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1NLRC4 CL E G H5848447045ORPHA064316412606831
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1NLRC4 CL E G H5848447045ORPHA064316412606831
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1NLRC4 CL E G H5848447045ORPHA064316412606831
HP:0000407HP:0008527Congenital sensorineural hearing impairment1NLRC4 CL E G H5848447045ORPHA064316412606831
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1NLRC4 CL E G H5848447045ORPHA064316412606831
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1NLRC4 CL E G H5848447045ORPHA064316412606831
HP:0000407HP:0008587Mild neurosensory hearing impairment1NLRC4 CL E G H5848447045ORPHA064316412606831
HP:0000407HP:0008504Moderate sensorineural hearing impairment1NLRC4 CL E G H5848447045ORPHA064316412606831
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1NLRC4 CL E G H5848447045ORPHA064316412606831
HP:0000407HP:0011476Profound sensorineural hearing impairment1NLRC4 CL E G H5848447045ORPHA064316412606831
HP:0000407HP:0000408Progressive sensorineural hearing impairment1NLRC4 CL E G H5848447045ORPHA064316412606831
HP:0000407HP:0008625Severe sensorineural hearing impairment1NLRC4 CL E G H5848447045ORPHA064316412606831
HP:0000407HP:0000410Mixed hearing impairment1NLRP3 CL E G H11454847045ORPHA091716400606416
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1NLRP3 CL E G H11454847045ORPHA091716400606416
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1NLRP3 CL E G H11454847045ORPHA091716400606416
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1NLRP3 CL E G H11454847045ORPHA091716400606416
HP:0000407HP:0008527Congenital sensorineural hearing impairment1NLRP3 CL E G H11454847045ORPHA091716400606416
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1NLRP3 CL E G H11454847045ORPHA091716400606416
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1NLRP3 CL E G H11454847045ORPHA091716400606416
HP:0000407HP:0008587Mild neurosensory hearing impairment1NLRP3 CL E G H11454847045ORPHA091716400606416
HP:0000407HP:0008504Moderate sensorineural hearing impairment1NLRP3 CL E G H11454847045ORPHA091716400606416
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1NLRP3 CL E G H11454847045ORPHA091716400606416
HP:0000407HP:0011476Profound sensorineural hearing impairment1NLRP3 CL E G H11454847045ORPHA091716400606416
HP:0000407HP:0000408Progressive sensorineural hearing impairment1NLRP3 CL E G H11454847045ORPHA091716400606416
HP:0000407HP:0008625Severe sensorineural hearing impairment1NLRP3 CL E G H11454847045ORPHA091716400606416
HP:0000407HP:0000410Mixed hearing impairment1NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM01337866602991
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM01337866602991
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM01337866602991
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM01337866602991
HP:0000407HP:0008527Congenital sensorineural hearing impairment1NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM01337866602991
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM01337866602991
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM01337866602991
HP:0000407HP:0008587Mild neurosensory hearing impairment1NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM01337866602991
HP:0000407HP:0008504Moderate sensorineural hearing impairment1NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM01337866602991
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM01337866602991
HP:0000407HP:0011476Profound sensorineural hearing impairment1NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM01337866602991
HP:0000407HP:0000408Progressive sensorineural hearing impairment1NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM01337866602991
HP:0000407HP:0008625Severe sensorineural hearing impairment1NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM01337866602991
HP:0000407HP:0000410Mixed hearing impairment1NOTCH3 CL E G H4854136ORPHA013437883600276
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1NOTCH3 CL E G H4854136ORPHA013437883600276
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1NOTCH3 CL E G H4854136ORPHA013437883600276
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1NOTCH3 CL E G H4854136ORPHA013437883600276
HP:0000407HP:0008527Congenital sensorineural hearing impairment1NOTCH3 CL E G H4854136ORPHA013437883600276
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1NOTCH3 CL E G H4854136ORPHA013437883600276
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1NOTCH3 CL E G H4854136ORPHA013437883600276
HP:0000407HP:0008587Mild neurosensory hearing impairment1NOTCH3 CL E G H4854136ORPHA013437883600276
HP:0000407HP:0008504Moderate sensorineural hearing impairment1NOTCH3 CL E G H4854136ORPHA013437883600276
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1NOTCH3 CL E G H4854136ORPHA013437883600276
HP:0000407HP:0011476Profound sensorineural hearing impairment1NOTCH3 CL E G H4854136ORPHA013437883600276
HP:0000407HP:0000408Progressive sensorineural hearing impairment1NOTCH3 CL E G H4854136ORPHA013437883600276
HP:0000407HP:0008625Severe sensorineural hearing impairment1NOTCH3 CL E G H4854136ORPHA013437883600276
HP:0000407HP:0000410Mixed hearing impairment1NOTCH3 CL E G H48542789ORPHA013437883600276
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1NOTCH3 CL E G H48542789ORPHA013437883600276
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1NOTCH3 CL E G H48542789ORPHA013437883600276
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1NOTCH3 CL E G H48542789ORPHA013437883600276
HP:0000407HP:0008527Congenital sensorineural hearing impairment1NOTCH3 CL E G H48542789ORPHA013437883600276
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1NOTCH3 CL E G H48542789ORPHA013437883600276
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1NOTCH3 CL E G H48542789ORPHA013437883600276
HP:0000407HP:0008587Mild neurosensory hearing impairment1NOTCH3 CL E G H48542789ORPHA013437883600276
HP:0000407HP:0008504Moderate sensorineural hearing impairment1NOTCH3 CL E G H48542789ORPHA013437883600276
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1NOTCH3 CL E G H48542789ORPHA013437883600276
HP:0000407HP:0011476Profound sensorineural hearing impairment1NOTCH3 CL E G H48542789ORPHA013437883600276
HP:0000407HP:0000408Progressive sensorineural hearing impairment1NOTCH3 CL E G H48542789ORPHA013437883600276
HP:0000407HP:0008625Severe sensorineural hearing impairment1NOTCH3 CL E G H48542789ORPHA013437883600276
HP:0000407HP:0000410Mixed hearing impairment1NRAS CL E G H4893648ORPHA02817989164790
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1NRAS CL E G H4893648ORPHA02817989164790
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1NRAS CL E G H4893648ORPHA02817989164790
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1NRAS CL E G H4893648ORPHA02817989164790
HP:0000407HP:0008527Congenital sensorineural hearing impairment1NRAS CL E G H4893648ORPHA02817989164790
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1NRAS CL E G H4893648ORPHA02817989164790
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1NRAS CL E G H4893648ORPHA02817989164790
HP:0000407HP:0008587Mild neurosensory hearing impairment1NRAS CL E G H4893648ORPHA02817989164790
HP:0000407HP:0008504Moderate sensorineural hearing impairment1NRAS CL E G H4893648ORPHA02817989164790
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1NRAS CL E G H4893648ORPHA02817989164790
HP:0000407HP:0011476Profound sensorineural hearing impairment1NRAS CL E G H4893648ORPHA02817989164790
HP:0000407HP:0000408Progressive sensorineural hearing impairment1NRAS CL E G H4893648ORPHA02817989164790
HP:0000407HP:0008625Severe sensorineural hearing impairment1NRAS CL E G H4893648ORPHA02817989164790
HP:0000407HP:0000410Mixed hearing impairment1NRTN CL E G H4902388Hirschsprung diseaseC0019569ORPHA0338007602018
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1NRTN CL E G H4902388Hirschsprung diseaseC0019569ORPHA0338007602018
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1NRTN CL E G H4902388Hirschsprung diseaseC0019569ORPHA0338007602018
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1NRTN CL E G H4902388Hirschsprung diseaseC0019569ORPHA0338007602018
HP:0000407HP:0008527Congenital sensorineural hearing impairment1NRTN CL E G H4902388Hirschsprung diseaseC0019569ORPHA0338007602018
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1NRTN CL E G H4902388Hirschsprung diseaseC0019569ORPHA0338007602018
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1NRTN CL E G H4902388Hirschsprung diseaseC0019569ORPHA0338007602018
HP:0000407HP:0008587Mild neurosensory hearing impairment1NRTN CL E G H4902388Hirschsprung diseaseC0019569ORPHA0338007602018
HP:0000407HP:0008504Moderate sensorineural hearing impairment1NRTN CL E G H4902388Hirschsprung diseaseC0019569ORPHA0338007602018
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1NRTN CL E G H4902388Hirschsprung diseaseC0019569ORPHA0338007602018
HP:0000407HP:0011476Profound sensorineural hearing impairment1NRTN CL E G H4902388Hirschsprung diseaseC0019569ORPHA0338007602018
HP:0000407HP:0000408Progressive sensorineural hearing impairment1NRTN CL E G H4902388Hirschsprung diseaseC0019569ORPHA0338007602018
HP:0000407HP:0008625Severe sensorineural hearing impairment1NRTN CL E G H4902388Hirschsprung diseaseC0019569ORPHA0338007602018
HP:0000407HP:0000410Mixed hearing impairment1NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM053812766602952
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM053812766602952
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM053812766602952
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM053812766602952
HP:0000407HP:0008527Congenital sensorineural hearing impairment1NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM053812766602952
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM053812766602952
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM053812766602952
HP:0000407HP:0008587Mild neurosensory hearing impairment1NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM053812766602952
HP:0000407HP:0008504Moderate sensorineural hearing impairment1NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM053812766602952
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM053812766602952
HP:0000407HP:0011476Profound sensorineural hearing impairment1NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM053812766602952
HP:0000407HP:0000408Progressive sensorineural hearing impairment1NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM053812766602952
HP:0000407HP:0008625Severe sensorineural hearing impairment1NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM053812766602952
HP:0000407HP:0000410Mixed hearing impairment1NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA019729843608137
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA019729843608137
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA019729843608137
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA019729843608137
HP:0000407HP:0008527Congenital sensorineural hearing impairment1NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA019729843608137
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA019729843608137
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA019729843608137
HP:0000407HP:0008587Mild neurosensory hearing impairment1NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA019729843608137
HP:0000407HP:0008504Moderate sensorineural hearing impairment1NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA019729843608137
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA019729843608137
HP:0000407HP:0011476Profound sensorineural hearing impairment1NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA019729843608137
HP:0000407HP:0000408Progressive sensorineural hearing impairment1NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA019729843608137
HP:0000407HP:0008625Severe sensorineural hearing impairment1NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA019729843608137
HP:0000407HP:0000410Mixed hearing impairment1OTX2 CL E G H50153157Lachiewicz Sibley syndromeORPHA02318522600037
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1OTX2 CL E G H50153157Lachiewicz Sibley syndromeORPHA02318522600037
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1OTX2 CL E G H50153157Lachiewicz Sibley syndromeORPHA02318522600037
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1OTX2 CL E G H50153157Lachiewicz Sibley syndromeORPHA02318522600037
HP:0000407HP:0008527Congenital sensorineural hearing impairment1OTX2 CL E G H50153157Lachiewicz Sibley syndromeORPHA02318522600037
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1OTX2 CL E G H50153157Lachiewicz Sibley syndromeORPHA02318522600037
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1OTX2 CL E G H50153157Lachiewicz Sibley syndromeORPHA02318522600037
HP:0000407HP:0008587Mild neurosensory hearing impairment1OTX2 CL E G H50153157Lachiewicz Sibley syndromeORPHA02318522600037
HP:0000407HP:0008504Moderate sensorineural hearing impairment1OTX2 CL E G H50153157Lachiewicz Sibley syndromeORPHA02318522600037
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1OTX2 CL E G H50153157Lachiewicz Sibley syndromeORPHA02318522600037
HP:0000407HP:0011476Profound sensorineural hearing impairment1OTX2 CL E G H50153157Lachiewicz Sibley syndromeORPHA02318522600037
HP:0000407HP:0000408Progressive sensorineural hearing impairment1OTX2 CL E G H50153157Lachiewicz Sibley syndromeORPHA02318522600037
HP:0000407HP:0008625Severe sensorineural hearing impairment1OTX2 CL E G H50153157Lachiewicz Sibley syndromeORPHA02318522600037
HP:0000407HP:0000410Mixed hearing impairment1PDK3 CL E G H5165300905Charcot-Marie-Tooth disease, X-linked dominant, 6300905C3806702OMIM03328811300906
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PDK3 CL E G H5165300905Charcot-Marie-Tooth disease, X-linked dominant, 6300905C3806702OMIM03328811300906
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PDK3 CL E G H5165300905Charcot-Marie-Tooth disease, X-linked dominant, 6300905C3806702OMIM03328811300906
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PDK3 CL E G H5165300905Charcot-Marie-Tooth disease, X-linked dominant, 6300905C3806702OMIM03328811300906
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PDK3 CL E G H5165300905Charcot-Marie-Tooth disease, X-linked dominant, 6300905C3806702OMIM03328811300906
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PDK3 CL E G H5165300905Charcot-Marie-Tooth disease, X-linked dominant, 6300905C3806702OMIM03328811300906
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PDK3 CL E G H5165300905Charcot-Marie-Tooth disease, X-linked dominant, 6300905C3806702OMIM03328811300906
HP:0000407HP:0008587Mild neurosensory hearing impairment1PDK3 CL E G H5165300905Charcot-Marie-Tooth disease, X-linked dominant, 6300905C3806702OMIM03328811300906
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PDK3 CL E G H5165300905Charcot-Marie-Tooth disease, X-linked dominant, 6300905C3806702OMIM03328811300906
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PDK3 CL E G H5165300905Charcot-Marie-Tooth disease, X-linked dominant, 6300905C3806702OMIM03328811300906
HP:0000407HP:0011476Profound sensorineural hearing impairment1PDK3 CL E G H5165300905Charcot-Marie-Tooth disease, X-linked dominant, 6300905C3806702OMIM03328811300906
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PDK3 CL E G H5165300905Charcot-Marie-Tooth disease, X-linked dominant, 6300905C3806702OMIM03328811300906
HP:0000407HP:0008625Severe sensorineural hearing impairment1PDK3 CL E G H5165300905Charcot-Marie-Tooth disease, X-linked dominant, 6300905C3806702OMIM03328811300906
HP:0000407HP:0000410Mixed hearing impairment1PDZD7 CL E G H79955618003DEAFNESS, AUTOSOMAL RECESSIVE 57618003CN248511OMIM092726257612971
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PDZD7 CL E G H79955618003DEAFNESS, AUTOSOMAL RECESSIVE 57618003CN248511OMIM092726257612971
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PDZD7 CL E G H79955618003DEAFNESS, AUTOSOMAL RECESSIVE 57618003CN248511OMIM092726257612971
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PDZD7 CL E G H79955618003DEAFNESS, AUTOSOMAL RECESSIVE 57618003CN248511OMIM092726257612971
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PDZD7 CL E G H79955618003DEAFNESS, AUTOSOMAL RECESSIVE 57618003CN248511OMIM092726257612971
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PDZD7 CL E G H79955618003DEAFNESS, AUTOSOMAL RECESSIVE 57618003CN248511OMIM092726257612971
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PDZD7 CL E G H79955618003DEAFNESS, AUTOSOMAL RECESSIVE 57618003CN248511OMIM092726257612971
HP:0000407HP:0008587Mild neurosensory hearing impairment1PDZD7 CL E G H79955618003DEAFNESS, AUTOSOMAL RECESSIVE 57618003CN248511OMIM092726257612971
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PDZD7 CL E G H79955618003DEAFNESS, AUTOSOMAL RECESSIVE 57618003CN248511OMIM092726257612971
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PDZD7 CL E G H79955618003DEAFNESS, AUTOSOMAL RECESSIVE 57618003CN248511OMIM092726257612971
HP:0000407HP:0011476Profound sensorineural hearing impairment1PDZD7 CL E G H79955618003DEAFNESS, AUTOSOMAL RECESSIVE 57618003CN248511OMIM092726257612971
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PDZD7 CL E G H79955618003DEAFNESS, AUTOSOMAL RECESSIVE 57618003CN248511OMIM092726257612971
HP:0000407HP:0008625Severe sensorineural hearing impairment1PDZD7 CL E G H79955618003DEAFNESS, AUTOSOMAL RECESSIVE 57618003CN248511OMIM092726257612971
HP:0000407HP:0000410Mixed hearing impairment1PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA09809143603851
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA09809143603851
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA09809143603851
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA09809143603851
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA09809143603851
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA09809143603851
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA09809143603851
HP:0000407HP:0008587Mild neurosensory hearing impairment1PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA09809143603851
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA09809143603851
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA09809143603851
HP:0000407HP:0011476Profound sensorineural hearing impairment1PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA09809143603851
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA09809143603851
HP:0000407HP:0008625Severe sensorineural hearing impairment1PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA09809143603851
HP:0000407HP:0000410Mixed hearing impairment1PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM030426031610274
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM030426031610274
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM030426031610274
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM030426031610274
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM030426031610274
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM030426031610274
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM030426031610274
HP:0000407HP:0008587Mild neurosensory hearing impairment1PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM030426031610274
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM030426031610274
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM030426031610274
HP:0000407HP:0011476Profound sensorineural hearing impairment1PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM030426031610274
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM030426031610274
HP:0000407HP:0008625Severe sensorineural hearing impairment1PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM030426031610274
HP:0000407HP:0000410Mixed hearing impairment1PITX3 CL E G H530988632ORPHA0549006602669
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PITX3 CL E G H530988632ORPHA0549006602669
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PITX3 CL E G H530988632ORPHA0549006602669
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PITX3 CL E G H530988632ORPHA0549006602669
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PITX3 CL E G H530988632ORPHA0549006602669
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PITX3 CL E G H530988632ORPHA0549006602669
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PITX3 CL E G H530988632ORPHA0549006602669
HP:0000407HP:0008587Mild neurosensory hearing impairment1PITX3 CL E G H530988632ORPHA0549006602669
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PITX3 CL E G H530988632ORPHA0549006602669
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PITX3 CL E G H530988632ORPHA0549006602669
HP:0000407HP:0011476Profound sensorineural hearing impairment1PITX3 CL E G H530988632ORPHA0549006602669
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PITX3 CL E G H530988632ORPHA0549006602669
HP:0000407HP:0008625Severe sensorineural hearing impairment1PITX3 CL E G H530988632ORPHA0549006602669
HP:0000407HP:0000410Mixed hearing impairment1PLAA CL E G H9373521426ORPHA05059043603873
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PLAA CL E G H9373521426ORPHA05059043603873
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PLAA CL E G H9373521426ORPHA05059043603873
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PLAA CL E G H9373521426ORPHA05059043603873
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PLAA CL E G H9373521426ORPHA05059043603873
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PLAA CL E G H9373521426ORPHA05059043603873
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PLAA CL E G H9373521426ORPHA05059043603873
HP:0000407HP:0008587Mild neurosensory hearing impairment1PLAA CL E G H9373521426ORPHA05059043603873
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PLAA CL E G H9373521426ORPHA05059043603873
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PLAA CL E G H9373521426ORPHA05059043603873
HP:0000407HP:0011476Profound sensorineural hearing impairment1PLAA CL E G H9373521426ORPHA05059043603873
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PLAA CL E G H9373521426ORPHA05059043603873
HP:0000407HP:0008625Severe sensorineural hearing impairment1PLAA CL E G H9373521426ORPHA05059043603873
HP:0000407HP:0000410Mixed hearing impairment1PLN CL E G H5350154Sandhaus Ben-Ami syndromeORPHA01789080172405
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PLN CL E G H5350154Sandhaus Ben-Ami syndromeORPHA01789080172405
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PLN CL E G H5350154Sandhaus Ben-Ami syndromeORPHA01789080172405
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PLN CL E G H5350154Sandhaus Ben-Ami syndromeORPHA01789080172405
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PLN CL E G H5350154Sandhaus Ben-Ami syndromeORPHA01789080172405
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PLN CL E G H5350154Sandhaus Ben-Ami syndromeORPHA01789080172405
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PLN CL E G H5350154Sandhaus Ben-Ami syndromeORPHA01789080172405
HP:0000407HP:0008587Mild neurosensory hearing impairment1PLN CL E G H5350154Sandhaus Ben-Ami syndromeORPHA01789080172405
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PLN CL E G H5350154Sandhaus Ben-Ami syndromeORPHA01789080172405
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PLN CL E G H5350154Sandhaus Ben-Ami syndromeORPHA01789080172405
HP:0000407HP:0011476Profound sensorineural hearing impairment1PLN CL E G H5350154Sandhaus Ben-Ami syndromeORPHA01789080172405
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PLN CL E G H5350154Sandhaus Ben-Ami syndromeORPHA01789080172405
HP:0000407HP:0008625Severe sensorineural hearing impairment1PLN CL E G H5350154Sandhaus Ben-Ami syndromeORPHA01789080172405
HP:0000407HP:0000410Mixed hearing impairment1PNPLA2 CL E G H5710498908ORPHA056630802609059
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PNPLA2 CL E G H5710498908ORPHA056630802609059
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PNPLA2 CL E G H5710498908ORPHA056630802609059
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PNPLA2 CL E G H5710498908ORPHA056630802609059
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PNPLA2 CL E G H5710498908ORPHA056630802609059
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PNPLA2 CL E G H5710498908ORPHA056630802609059
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PNPLA2 CL E G H5710498908ORPHA056630802609059
HP:0000407HP:0008587Mild neurosensory hearing impairment1PNPLA2 CL E G H5710498908ORPHA056630802609059
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PNPLA2 CL E G H5710498908ORPHA056630802609059
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PNPLA2 CL E G H5710498908ORPHA056630802609059
HP:0000407HP:0011476Profound sensorineural hearing impairment1PNPLA2 CL E G H5710498908ORPHA056630802609059
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PNPLA2 CL E G H5710498908ORPHA056630802609059
HP:0000407HP:0008625Severe sensorineural hearing impairment1PNPLA2 CL E G H5710498908ORPHA056630802609059
HP:0000407HP:0000410Mixed hearing impairment1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM056630802609059
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM056630802609059
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM056630802609059
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM056630802609059
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM056630802609059
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM056630802609059
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM056630802609059
HP:0000407HP:0008587Mild neurosensory hearing impairment1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM056630802609059
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM056630802609059
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM056630802609059
HP:0000407HP:0011476Profound sensorineural hearing impairment1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM056630802609059
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM056630802609059
HP:0000407HP:0008625Severe sensorineural hearing impairment1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM056630802609059
HP:0000407HP:0000410Mixed hearing impairment1POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM030726267615247
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM030726267615247
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM030726267615247
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM030726267615247
HP:0000407HP:0008527Congenital sensorineural hearing impairment1POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM030726267615247
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM030726267615247
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM030726267615247
HP:0000407HP:0008587Mild neurosensory hearing impairment1POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM030726267615247
HP:0000407HP:0008504Moderate sensorineural hearing impairment1POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM030726267615247
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM030726267615247
HP:0000407HP:0011476Profound sensorineural hearing impairment1POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM030726267615247
HP:0000407HP:0000408Progressive sensorineural hearing impairment1POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM030726267615247
HP:0000407HP:0008625Severe sensorineural hearing impairment1POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM030726267615247
HP:0000407HP:0000410Mixed hearing impairment1PPCS CL E G H79717154Sandhaus Ben-Ami syndromeORPHA020425686609853
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PPCS CL E G H79717154Sandhaus Ben-Ami syndromeORPHA020425686609853
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PPCS CL E G H79717154Sandhaus Ben-Ami syndromeORPHA020425686609853
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PPCS CL E G H79717154Sandhaus Ben-Ami syndromeORPHA020425686609853
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PPCS CL E G H79717154Sandhaus Ben-Ami syndromeORPHA020425686609853
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PPCS CL E G H79717154Sandhaus Ben-Ami syndromeORPHA020425686609853
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PPCS CL E G H79717154Sandhaus Ben-Ami syndromeORPHA020425686609853
HP:0000407HP:0008587Mild neurosensory hearing impairment1PPCS CL E G H79717154Sandhaus Ben-Ami syndromeORPHA020425686609853
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PPCS CL E G H79717154Sandhaus Ben-Ami syndromeORPHA020425686609853
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PPCS CL E G H79717154Sandhaus Ben-Ami syndromeORPHA020425686609853
HP:0000407HP:0011476Profound sensorineural hearing impairment1PPCS CL E G H79717154Sandhaus Ben-Ami syndromeORPHA020425686609853
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PPCS CL E G H79717154Sandhaus Ben-Ami syndromeORPHA020425686609853
HP:0000407HP:0008625Severe sensorineural hearing impairment1PPCS CL E G H79717154Sandhaus Ben-Ami syndromeORPHA020425686609853
HP:0000407HP:0000410Mixed hearing impairment1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM013414951613257
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM013414951613257
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM013414951613257
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM013414951613257
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM013414951613257
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM013414951613257
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM013414951613257
HP:0000407HP:0008587Mild neurosensory hearing impairment1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM013414951613257
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM013414951613257
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM013414951613257
HP:0000407HP:0011476Profound sensorineural hearing impairment1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM013414951613257
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM013414951613257
HP:0000407HP:0008625Severe sensorineural hearing impairment1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM013414951613257
HP:0000407HP:0000410Mixed hearing impairment1PRDM16 CL E G H639761606ORPHA0127214000605557
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PRDM16 CL E G H639761606ORPHA0127214000605557
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PRDM16 CL E G H639761606ORPHA0127214000605557
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PRDM16 CL E G H639761606ORPHA0127214000605557
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PRDM16 CL E G H639761606ORPHA0127214000605557
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PRDM16 CL E G H639761606ORPHA0127214000605557
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PRDM16 CL E G H639761606ORPHA0127214000605557
HP:0000407HP:0008587Mild neurosensory hearing impairment1PRDM16 CL E G H639761606ORPHA0127214000605557
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PRDM16 CL E G H639761606ORPHA0127214000605557
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PRDM16 CL E G H639761606ORPHA0127214000605557
HP:0000407HP:0011476Profound sensorineural hearing impairment1PRDM16 CL E G H639761606ORPHA0127214000605557
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PRDM16 CL E G H639761606ORPHA0127214000605557
HP:0000407HP:0008625Severe sensorineural hearing impairment1PRDM16 CL E G H639761606ORPHA0127214000605557
HP:0000407HP:0000410Mixed hearing impairment1PRDM16 CL E G H63976154Sandhaus Ben-Ami syndromeORPHA0127214000605557
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PRDM16 CL E G H63976154Sandhaus Ben-Ami syndromeORPHA0127214000605557
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PRDM16 CL E G H63976154Sandhaus Ben-Ami syndromeORPHA0127214000605557
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PRDM16 CL E G H63976154Sandhaus Ben-Ami syndromeORPHA0127214000605557
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PRDM16 CL E G H63976154Sandhaus Ben-Ami syndromeORPHA0127214000605557
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PRDM16 CL E G H63976154Sandhaus Ben-Ami syndromeORPHA0127214000605557
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PRDM16 CL E G H63976154Sandhaus Ben-Ami syndromeORPHA0127214000605557
HP:0000407HP:0008587Mild neurosensory hearing impairment1PRDM16 CL E G H63976154Sandhaus Ben-Ami syndromeORPHA0127214000605557
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PRDM16 CL E G H63976154Sandhaus Ben-Ami syndromeORPHA0127214000605557
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PRDM16 CL E G H63976154Sandhaus Ben-Ami syndromeORPHA0127214000605557
HP:0000407HP:0011476Profound sensorineural hearing impairment1PRDM16 CL E G H63976154Sandhaus Ben-Ami syndromeORPHA0127214000605557
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PRDM16 CL E G H63976154Sandhaus Ben-Ami syndromeORPHA0127214000605557
HP:0000407HP:0008625Severe sensorineural hearing impairment1PRDM16 CL E G H63976154Sandhaus Ben-Ami syndromeORPHA0127214000605557
HP:0000407HP:0000410Mixed hearing impairment1PRKDC CL E G H5591615966Immunodeficiency 26 with or without neurologic abnormalities615966C4014833OMIM037489413600899
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PRKDC CL E G H5591615966Immunodeficiency 26 with or without neurologic abnormalities615966C4014833OMIM037489413600899
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PRKDC CL E G H5591615966Immunodeficiency 26 with or without neurologic abnormalities615966C4014833OMIM037489413600899
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PRKDC CL E G H5591615966Immunodeficiency 26 with or without neurologic abnormalities615966C4014833OMIM037489413600899
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PRKDC CL E G H5591615966Immunodeficiency 26 with or without neurologic abnormalities615966C4014833OMIM037489413600899
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PRKDC CL E G H5591615966Immunodeficiency 26 with or without neurologic abnormalities615966C4014833OMIM037489413600899
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PRKDC CL E G H5591615966Immunodeficiency 26 with or without neurologic abnormalities615966C4014833OMIM037489413600899
HP:0000407HP:0008587Mild neurosensory hearing impairment1PRKDC CL E G H5591615966Immunodeficiency 26 with or without neurologic abnormalities615966C4014833OMIM037489413600899
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PRKDC CL E G H5591615966Immunodeficiency 26 with or without neurologic abnormalities615966C4014833OMIM037489413600899
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PRKDC CL E G H5591615966Immunodeficiency 26 with or without neurologic abnormalities615966C4014833OMIM037489413600899
HP:0000407HP:0011476Profound sensorineural hearing impairment1PRKDC CL E G H5591615966Immunodeficiency 26 with or without neurologic abnormalities615966C4014833OMIM037489413600899
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PRKDC CL E G H5591615966Immunodeficiency 26 with or without neurologic abnormalities615966C4014833OMIM037489413600899
HP:0000407HP:0008625Severe sensorineural hearing impairment1PRKDC CL E G H5591615966Immunodeficiency 26 with or without neurologic abnormalities615966C4014833OMIM037489413600899
HP:0000407HP:0000410Mixed hearing impairment1PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA06518455607002
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA06518455607002
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA06518455607002
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA06518455607002
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA06518455607002
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA06518455607002
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA06518455607002
HP:0000407HP:0008587Mild neurosensory hearing impairment1PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA06518455607002
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA06518455607002
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA06518455607002
HP:0000407HP:0011476Profound sensorineural hearing impairment1PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA06518455607002
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA06518455607002
HP:0000407HP:0008625Severe sensorineural hearing impairment1PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA06518455607002
HP:0000407HP:0000410Mixed hearing impairment1PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA016015836607123
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA016015836607123
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA016015836607123
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA016015836607123
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA016015836607123
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA016015836607123
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA016015836607123
HP:0000407HP:0008587Mild neurosensory hearing impairment1PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA016015836607123
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA016015836607123
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA016015836607123
HP:0000407HP:0011476Profound sensorineural hearing impairment1PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA016015836607123
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA016015836607123
HP:0000407HP:0008625Severe sensorineural hearing impairment1PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA016015836607123
HP:0000407HP:0000410Mixed hearing impairment1PROKR2 CL E G H1286743157Lachiewicz Sibley syndromeORPHA016015836607123
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PROKR2 CL E G H1286743157Lachiewicz Sibley syndromeORPHA016015836607123
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PROKR2 CL E G H1286743157Lachiewicz Sibley syndromeORPHA016015836607123
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PROKR2 CL E G H1286743157Lachiewicz Sibley syndromeORPHA016015836607123
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PROKR2 CL E G H1286743157Lachiewicz Sibley syndromeORPHA016015836607123
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PROKR2 CL E G H1286743157Lachiewicz Sibley syndromeORPHA016015836607123
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PROKR2 CL E G H1286743157Lachiewicz Sibley syndromeORPHA016015836607123
HP:0000407HP:0008587Mild neurosensory hearing impairment1PROKR2 CL E G H1286743157Lachiewicz Sibley syndromeORPHA016015836607123
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PROKR2 CL E G H1286743157Lachiewicz Sibley syndromeORPHA016015836607123
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PROKR2 CL E G H1286743157Lachiewicz Sibley syndromeORPHA016015836607123
HP:0000407HP:0011476Profound sensorineural hearing impairment1PROKR2 CL E G H1286743157Lachiewicz Sibley syndromeORPHA016015836607123
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PROKR2 CL E G H1286743157Lachiewicz Sibley syndromeORPHA016015836607123
HP:0000407HP:0008625Severe sensorineural hearing impairment1PROKR2 CL E G H1286743157Lachiewicz Sibley syndromeORPHA016015836607123
HP:0000407HP:0000410Mixed hearing impairment1PRRT2 CL E G H112476569ORPHA079930500614386
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PRRT2 CL E G H112476569ORPHA079930500614386
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PRRT2 CL E G H112476569ORPHA079930500614386
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PRRT2 CL E G H112476569ORPHA079930500614386
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PRRT2 CL E G H112476569ORPHA079930500614386
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PRRT2 CL E G H112476569ORPHA079930500614386
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PRRT2 CL E G H112476569ORPHA079930500614386
HP:0000407HP:0008587Mild neurosensory hearing impairment1PRRT2 CL E G H112476569ORPHA079930500614386
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PRRT2 CL E G H112476569ORPHA079930500614386
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PRRT2 CL E G H112476569ORPHA079930500614386
HP:0000407HP:0011476Profound sensorineural hearing impairment1PRRT2 CL E G H112476569ORPHA079930500614386
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PRRT2 CL E G H112476569ORPHA079930500614386
HP:0000407HP:0008625Severe sensorineural hearing impairment1PRRT2 CL E G H112476569ORPHA079930500614386
HP:0000407HP:0000410Mixed hearing impairment1PRTN3 CL E G H5657900ORPHA0559495177020
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PRTN3 CL E G H5657900ORPHA0559495177020
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PRTN3 CL E G H5657900ORPHA0559495177020
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PRTN3 CL E G H5657900ORPHA0559495177020
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PRTN3 CL E G H5657900ORPHA0559495177020
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PRTN3 CL E G H5657900ORPHA0559495177020
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PRTN3 CL E G H5657900ORPHA0559495177020
HP:0000407HP:0008587Mild neurosensory hearing impairment1PRTN3 CL E G H5657900ORPHA0559495177020
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PRTN3 CL E G H5657900ORPHA0559495177020
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PRTN3 CL E G H5657900ORPHA0559495177020
HP:0000407HP:0011476Profound sensorineural hearing impairment1PRTN3 CL E G H5657900ORPHA0559495177020
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PRTN3 CL E G H5657900ORPHA0559495177020
HP:0000407HP:0008625Severe sensorineural hearing impairment1PRTN3 CL E G H5657900ORPHA0559495177020
HP:0000407HP:0000410Mixed hearing impairment1PSEN1 CL E G H5663154Sandhaus Ben-Ami syndromeORPHA05019508104311
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PSEN1 CL E G H5663154Sandhaus Ben-Ami syndromeORPHA05019508104311
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PSEN1 CL E G H5663154Sandhaus Ben-Ami syndromeORPHA05019508104311
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PSEN1 CL E G H5663154Sandhaus Ben-Ami syndromeORPHA05019508104311
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PSEN1 CL E G H5663154Sandhaus Ben-Ami syndromeORPHA05019508104311
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PSEN1 CL E G H5663154Sandhaus Ben-Ami syndromeORPHA05019508104311
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PSEN1 CL E G H5663154Sandhaus Ben-Ami syndromeORPHA05019508104311
HP:0000407HP:0008587Mild neurosensory hearing impairment1PSEN1 CL E G H5663154Sandhaus Ben-Ami syndromeORPHA05019508104311
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PSEN1 CL E G H5663154Sandhaus Ben-Ami syndromeORPHA05019508104311
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PSEN1 CL E G H5663154Sandhaus Ben-Ami syndromeORPHA05019508104311
HP:0000407HP:0011476Profound sensorineural hearing impairment1PSEN1 CL E G H5663154Sandhaus Ben-Ami syndromeORPHA05019508104311
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PSEN1 CL E G H5663154Sandhaus Ben-Ami syndromeORPHA05019508104311
HP:0000407HP:0008625Severe sensorineural hearing impairment1PSEN1 CL E G H5663154Sandhaus Ben-Ami syndromeORPHA05019508104311
HP:0000407HP:0000410Mixed hearing impairment1PSEN2 CL E G H5664154Sandhaus Ben-Ami syndromeORPHA02799509600759
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PSEN2 CL E G H5664154Sandhaus Ben-Ami syndromeORPHA02799509600759
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PSEN2 CL E G H5664154Sandhaus Ben-Ami syndromeORPHA02799509600759
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PSEN2 CL E G H5664154Sandhaus Ben-Ami syndromeORPHA02799509600759
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PSEN2 CL E G H5664154Sandhaus Ben-Ami syndromeORPHA02799509600759
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PSEN2 CL E G H5664154Sandhaus Ben-Ami syndromeORPHA02799509600759
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PSEN2 CL E G H5664154Sandhaus Ben-Ami syndromeORPHA02799509600759
HP:0000407HP:0008587Mild neurosensory hearing impairment1PSEN2 CL E G H5664154Sandhaus Ben-Ami syndromeORPHA02799509600759
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PSEN2 CL E G H5664154Sandhaus Ben-Ami syndromeORPHA02799509600759
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PSEN2 CL E G H5664154Sandhaus Ben-Ami syndromeORPHA02799509600759
HP:0000407HP:0011476Profound sensorineural hearing impairment1PSEN2 CL E G H5664154Sandhaus Ben-Ami syndromeORPHA02799509600759
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PSEN2 CL E G H5664154Sandhaus Ben-Ami syndromeORPHA02799509600759
HP:0000407HP:0008625Severe sensorineural hearing impairment1PSEN2 CL E G H5664154Sandhaus Ben-Ami syndromeORPHA02799509600759
HP:0000407HP:0000410Mixed hearing impairment1PTPN11 CL E G H5781648ORPHA08549644176876
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PTPN11 CL E G H5781648ORPHA08549644176876
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PTPN11 CL E G H5781648ORPHA08549644176876
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PTPN11 CL E G H5781648ORPHA08549644176876
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PTPN11 CL E G H5781648ORPHA08549644176876
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PTPN11 CL E G H5781648ORPHA08549644176876
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PTPN11 CL E G H5781648ORPHA08549644176876
HP:0000407HP:0008587Mild neurosensory hearing impairment1PTPN11 CL E G H5781648ORPHA08549644176876
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PTPN11 CL E G H5781648ORPHA08549644176876
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PTPN11 CL E G H5781648ORPHA08549644176876
HP:0000407HP:0011476Profound sensorineural hearing impairment1PTPN11 CL E G H5781648ORPHA08549644176876
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PTPN11 CL E G H5781648ORPHA08549644176876
HP:0000407HP:0008625Severe sensorineural hearing impairment1PTPN11 CL E G H5781648ORPHA08549644176876
HP:0000407HP:0000410Mixed hearing impairment1PTPN22 CL E G H26191900ORPHA0639652600716
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1PTPN22 CL E G H26191900ORPHA0639652600716
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1PTPN22 CL E G H26191900ORPHA0639652600716
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1PTPN22 CL E G H26191900ORPHA0639652600716
HP:0000407HP:0008527Congenital sensorineural hearing impairment1PTPN22 CL E G H26191900ORPHA0639652600716
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1PTPN22 CL E G H26191900ORPHA0639652600716
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1PTPN22 CL E G H26191900ORPHA0639652600716
HP:0000407HP:0008587Mild neurosensory hearing impairment1PTPN22 CL E G H26191900ORPHA0639652600716
HP:0000407HP:0008504Moderate sensorineural hearing impairment1PTPN22 CL E G H26191900ORPHA0639652600716
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1PTPN22 CL E G H26191900ORPHA0639652600716
HP:0000407HP:0011476Profound sensorineural hearing impairment1PTPN22 CL E G H26191900ORPHA0639652600716
HP:0000407HP:0000408Progressive sensorineural hearing impairment1PTPN22 CL E G H26191900ORPHA0639652600716
HP:0000407HP:0008625Severe sensorineural hearing impairment1PTPN22 CL E G H26191900ORPHA0639652600716
HP:0000407HP:0000410Mixed hearing impairment1RAF1 CL E G H5894648ORPHA09909829164760
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1RAF1 CL E G H5894648ORPHA09909829164760
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1RAF1 CL E G H5894648ORPHA09909829164760
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1RAF1 CL E G H5894648ORPHA09909829164760
HP:0000407HP:0008527Congenital sensorineural hearing impairment1RAF1 CL E G H5894648ORPHA09909829164760
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1RAF1 CL E G H5894648ORPHA09909829164760
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1RAF1 CL E G H5894648ORPHA09909829164760
HP:0000407HP:0008587Mild neurosensory hearing impairment1RAF1 CL E G H5894648ORPHA09909829164760
HP:0000407HP:0008504Moderate sensorineural hearing impairment1RAF1 CL E G H5894648ORPHA09909829164760
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1RAF1 CL E G H5894648ORPHA09909829164760
HP:0000407HP:0011476Profound sensorineural hearing impairment1RAF1 CL E G H5894648ORPHA09909829164760
HP:0000407HP:0000408Progressive sensorineural hearing impairment1RAF1 CL E G H5894648ORPHA09909829164760
HP:0000407HP:0008625Severe sensorineural hearing impairment1RAF1 CL E G H5894648ORPHA09909829164760
HP:0000407HP:0000410Mixed hearing impairment1RAF1 CL E G H5894154Sandhaus Ben-Ami syndromeORPHA09909829164760
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1RAF1 CL E G H5894154Sandhaus Ben-Ami syndromeORPHA09909829164760
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1RAF1 CL E G H5894154Sandhaus Ben-Ami syndromeORPHA09909829164760
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1RAF1 CL E G H5894154Sandhaus Ben-Ami syndromeORPHA09909829164760
HP:0000407HP:0008527Congenital sensorineural hearing impairment1RAF1 CL E G H5894154Sandhaus Ben-Ami syndromeORPHA09909829164760
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1RAF1 CL E G H5894154Sandhaus Ben-Ami syndromeORPHA09909829164760
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1RAF1 CL E G H5894154Sandhaus Ben-Ami syndromeORPHA09909829164760
HP:0000407HP:0008587Mild neurosensory hearing impairment1RAF1 CL E G H5894154Sandhaus Ben-Ami syndromeORPHA09909829164760
HP:0000407HP:0008504Moderate sensorineural hearing impairment1RAF1 CL E G H5894154Sandhaus Ben-Ami syndromeORPHA09909829164760
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1RAF1 CL E G H5894154Sandhaus Ben-Ami syndromeORPHA09909829164760
HP:0000407HP:0011476Profound sensorineural hearing impairment1RAF1 CL E G H5894154Sandhaus Ben-Ami syndromeORPHA09909829164760
HP:0000407HP:0000408Progressive sensorineural hearing impairment1RAF1 CL E G H5894154Sandhaus Ben-Ami syndromeORPHA09909829164760
HP:0000407HP:0008625Severe sensorineural hearing impairment1RAF1 CL E G H5894154Sandhaus Ben-Ami syndromeORPHA09909829164760
HP:0000407HP:0000410Mixed hearing impairment1RASA2 CL E G H5922648ORPHA05339872601589
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1RASA2 CL E G H5922648ORPHA05339872601589
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1RASA2 CL E G H5922648ORPHA05339872601589
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1RASA2 CL E G H5922648ORPHA05339872601589
HP:0000407HP:0008527Congenital sensorineural hearing impairment1RASA2 CL E G H5922648ORPHA05339872601589
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1RASA2 CL E G H5922648ORPHA05339872601589
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1RASA2 CL E G H5922648ORPHA05339872601589
HP:0000407HP:0008587Mild neurosensory hearing impairment1RASA2 CL E G H5922648ORPHA05339872601589
HP:0000407HP:0008504Moderate sensorineural hearing impairment1RASA2 CL E G H5922648ORPHA05339872601589
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1RASA2 CL E G H5922648ORPHA05339872601589
HP:0000407HP:0011476Profound sensorineural hearing impairment1RASA2 CL E G H5922648ORPHA05339872601589
HP:0000407HP:0000408Progressive sensorineural hearing impairment1RASA2 CL E G H5922648ORPHA05339872601589
HP:0000407HP:0008625Severe sensorineural hearing impairment1RASA2 CL E G H5922648ORPHA05339872601589
HP:0000407HP:0000410Mixed hearing impairment1RBM20 CL E G H282996154Sandhaus Ben-Ami syndromeORPHA0162327424613171
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1RBM20 CL E G H282996154Sandhaus Ben-Ami syndromeORPHA0162327424613171
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1RBM20 CL E G H282996154Sandhaus Ben-Ami syndromeORPHA0162327424613171
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1RBM20 CL E G H282996154Sandhaus Ben-Ami syndromeORPHA0162327424613171
HP:0000407HP:0008527Congenital sensorineural hearing impairment1RBM20 CL E G H282996154Sandhaus Ben-Ami syndromeORPHA0162327424613171
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1RBM20 CL E G H282996154Sandhaus Ben-Ami syndromeORPHA0162327424613171
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1RBM20 CL E G H282996154Sandhaus Ben-Ami syndromeORPHA0162327424613171
HP:0000407HP:0008587Mild neurosensory hearing impairment1RBM20 CL E G H282996154Sandhaus Ben-Ami syndromeORPHA0162327424613171
HP:0000407HP:0008504Moderate sensorineural hearing impairment1RBM20 CL E G H282996154Sandhaus Ben-Ami syndromeORPHA0162327424613171
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1RBM20 CL E G H282996154Sandhaus Ben-Ami syndromeORPHA0162327424613171
HP:0000407HP:0011476Profound sensorineural hearing impairment1RBM20 CL E G H282996154Sandhaus Ben-Ami syndromeORPHA0162327424613171
HP:0000407HP:0000408Progressive sensorineural hearing impairment1RBM20 CL E G H282996154Sandhaus Ben-Ami syndromeORPHA0162327424613171
HP:0000407HP:0008625Severe sensorineural hearing impairment1RBM20 CL E G H282996154Sandhaus Ben-Ami syndromeORPHA0162327424613171
HP:0000407HP:0000410Mixed hearing impairment1RBM8A CL E G H99393320ORPHA02529905605313
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1RBM8A CL E G H99393320ORPHA02529905605313
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1RBM8A CL E G H99393320ORPHA02529905605313
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1RBM8A CL E G H99393320ORPHA02529905605313
HP:0000407HP:0008527Congenital sensorineural hearing impairment1RBM8A CL E G H99393320ORPHA02529905605313
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1RBM8A CL E G H99393320ORPHA02529905605313
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1RBM8A CL E G H99393320ORPHA02529905605313
HP:0000407HP:0008587Mild neurosensory hearing impairment1RBM8A CL E G H99393320ORPHA02529905605313
HP:0000407HP:0008504Moderate sensorineural hearing impairment1RBM8A CL E G H99393320ORPHA02529905605313
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1RBM8A CL E G H99393320ORPHA02529905605313
HP:0000407HP:0011476Profound sensorineural hearing impairment1RBM8A CL E G H99393320ORPHA02529905605313
HP:0000407HP:0000408Progressive sensorineural hearing impairment1RBM8A CL E G H99393320ORPHA02529905605313
HP:0000407HP:0008625Severe sensorineural hearing impairment1RBM8A CL E G H99393320ORPHA02529905605313
HP:0000407HP:0000410Mixed hearing impairment1RERE CL E G H4731606ORPHA06599965605226
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1RERE CL E G H4731606ORPHA06599965605226
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1RERE CL E G H4731606ORPHA06599965605226
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1RERE CL E G H4731606ORPHA06599965605226
HP:0000407HP:0008527Congenital sensorineural hearing impairment1RERE CL E G H4731606ORPHA06599965605226
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1RERE CL E G H4731606ORPHA06599965605226
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1RERE CL E G H4731606ORPHA06599965605226
HP:0000407HP:0008587Mild neurosensory hearing impairment1RERE CL E G H4731606ORPHA06599965605226
HP:0000407HP:0008504Moderate sensorineural hearing impairment1RERE CL E G H4731606ORPHA06599965605226
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1RERE CL E G H4731606ORPHA06599965605226
HP:0000407HP:0011476Profound sensorineural hearing impairment1RERE CL E G H4731606ORPHA06599965605226
HP:0000407HP:0000408Progressive sensorineural hearing impairment1RERE CL E G H4731606ORPHA06599965605226
HP:0000407HP:0008625Severe sensorineural hearing impairment1RERE CL E G H4731606ORPHA06599965605226
HP:0000407HP:0000410Mixed hearing impairment1RET CL E G H597999803Haddad syndromeC1859587ORPHA031659967164761
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1RET CL E G H597999803Haddad syndromeC1859587ORPHA031659967164761
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1RET CL E G H597999803Haddad syndromeC1859587ORPHA031659967164761
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1RET CL E G H597999803Haddad syndromeC1859587ORPHA031659967164761
HP:0000407HP:0008527Congenital sensorineural hearing impairment1RET CL E G H597999803Haddad syndromeC1859587ORPHA031659967164761
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1RET CL E G H597999803Haddad syndromeC1859587ORPHA031659967164761
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1RET CL E G H597999803Haddad syndromeC1859587ORPHA031659967164761
HP:0000407HP:0008587Mild neurosensory hearing impairment1RET CL E G H597999803Haddad syndromeC1859587ORPHA031659967164761
HP:0000407HP:0008504Moderate sensorineural hearing impairment1RET CL E G H597999803Haddad syndromeC1859587ORPHA031659967164761
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1RET CL E G H597999803Haddad syndromeC1859587ORPHA031659967164761
HP:0000407HP:0011476Profound sensorineural hearing impairment1RET CL E G H597999803Haddad syndromeC1859587ORPHA031659967164761
HP:0000407HP:0000408Progressive sensorineural hearing impairment1RET CL E G H597999803Haddad syndromeC1859587ORPHA031659967164761
HP:0000407HP:0008625Severe sensorineural hearing impairment1RET CL E G H597999803Haddad syndromeC1859587ORPHA031659967164761
HP:0000407HP:0000410Mixed hearing impairment1RET CL E G H5979388Hirschsprung diseaseC0019569ORPHA031659967164761
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1RET CL E G H5979388Hirschsprung diseaseC0019569ORPHA031659967164761
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1RET CL E G H5979388Hirschsprung diseaseC0019569ORPHA031659967164761
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1RET CL E G H5979388Hirschsprung diseaseC0019569ORPHA031659967164761
HP:0000407HP:0008527Congenital sensorineural hearing impairment1RET CL E G H5979388Hirschsprung diseaseC0019569ORPHA031659967164761
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1RET CL E G H5979388Hirschsprung diseaseC0019569ORPHA031659967164761
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1RET CL E G H5979388Hirschsprung diseaseC0019569ORPHA031659967164761
HP:0000407HP:0008587Mild neurosensory hearing impairment1RET CL E G H5979388Hirschsprung diseaseC0019569ORPHA031659967164761
HP:0000407HP:0008504Moderate sensorineural hearing impairment1RET CL E G H5979388Hirschsprung diseaseC0019569ORPHA031659967164761
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1RET CL E G H5979388Hirschsprung diseaseC0019569ORPHA031659967164761
HP:0000407HP:0011476Profound sensorineural hearing impairment1RET CL E G H5979388Hirschsprung diseaseC0019569ORPHA031659967164761
HP:0000407HP:0000408Progressive sensorineural hearing impairment1RET CL E G H5979388Hirschsprung diseaseC0019569ORPHA031659967164761
HP:0000407HP:0008625Severe sensorineural hearing impairment1RET CL E G H5979388Hirschsprung diseaseC0019569ORPHA031659967164761
HP:0000407HP:0000410Mixed hearing impairment1RIT1 CL E G H6016648ORPHA026910023609591
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1RIT1 CL E G H6016648ORPHA026910023609591
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1RIT1 CL E G H6016648ORPHA026910023609591
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1RIT1 CL E G H6016648ORPHA026910023609591
HP:0000407HP:0008527Congenital sensorineural hearing impairment1RIT1 CL E G H6016648ORPHA026910023609591
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1RIT1 CL E G H6016648ORPHA026910023609591
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1RIT1 CL E G H6016648ORPHA026910023609591
HP:0000407HP:0008587Mild neurosensory hearing impairment1RIT1 CL E G H6016648ORPHA026910023609591
HP:0000407HP:0008504Moderate sensorineural hearing impairment1RIT1 CL E G H6016648ORPHA026910023609591
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1RIT1 CL E G H6016648ORPHA026910023609591
HP:0000407HP:0011476Profound sensorineural hearing impairment1RIT1 CL E G H6016648ORPHA026910023609591
HP:0000407HP:0000408Progressive sensorineural hearing impairment1RIT1 CL E G H6016648ORPHA026910023609591
HP:0000407HP:0008625Severe sensorineural hearing impairment1RIT1 CL E G H6016648ORPHA026910023609591
HP:0000407HP:0000410Mixed hearing impairment1RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0000407HP:0008527Congenital sensorineural hearing impairment1RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0000407HP:0008587Mild neurosensory hearing impairment1RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0000407HP:0008504Moderate sensorineural hearing impairment1RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0000407HP:0011476Profound sensorineural hearing impairment1RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0000407HP:0000408Progressive sensorineural hearing impairment1RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0000407HP:0008625Severe sensorineural hearing impairment1RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0000407HP:0000410Mixed hearing impairment1ROBO3 CL E G H642212744ORPHA031413433608630
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ROBO3 CL E G H642212744ORPHA031413433608630
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ROBO3 CL E G H642212744ORPHA031413433608630
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ROBO3 CL E G H642212744ORPHA031413433608630
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ROBO3 CL E G H642212744ORPHA031413433608630
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ROBO3 CL E G H642212744ORPHA031413433608630
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ROBO3 CL E G H642212744ORPHA031413433608630
HP:0000407HP:0008587Mild neurosensory hearing impairment1ROBO3 CL E G H642212744ORPHA031413433608630
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ROBO3 CL E G H642212744ORPHA031413433608630
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ROBO3 CL E G H642212744ORPHA031413433608630
HP:0000407HP:0011476Profound sensorineural hearing impairment1ROBO3 CL E G H642212744ORPHA031413433608630
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ROBO3 CL E G H642212744ORPHA031413433608630
HP:0000407HP:0008625Severe sensorineural hearing impairment1ROBO3 CL E G H642212744ORPHA031413433608630
HP:0000407HP:0000410Mixed hearing impairment1RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA051510432300075
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA051510432300075
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA051510432300075
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA051510432300075
HP:0000407HP:0008527Congenital sensorineural hearing impairment1RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA051510432300075
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA051510432300075
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA051510432300075
HP:0000407HP:0008587Mild neurosensory hearing impairment1RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA051510432300075
HP:0000407HP:0008504Moderate sensorineural hearing impairment1RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA051510432300075
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA051510432300075
HP:0000407HP:0011476Profound sensorineural hearing impairment1RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA051510432300075
HP:0000407HP:0000408Progressive sensorineural hearing impairment1RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA051510432300075
HP:0000407HP:0008625Severe sensorineural hearing impairment1RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA051510432300075
HP:0000407HP:0000410Mixed hearing impairment1RRAS CL E G H6237648ORPHA026010447165090
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1RRAS CL E G H6237648ORPHA026010447165090
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1RRAS CL E G H6237648ORPHA026010447165090
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1RRAS CL E G H6237648ORPHA026010447165090
HP:0000407HP:0008527Congenital sensorineural hearing impairment1RRAS CL E G H6237648ORPHA026010447165090
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1RRAS CL E G H6237648ORPHA026010447165090
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1RRAS CL E G H6237648ORPHA026010447165090
HP:0000407HP:0008587Mild neurosensory hearing impairment1RRAS CL E G H6237648ORPHA026010447165090
HP:0000407HP:0008504Moderate sensorineural hearing impairment1RRAS CL E G H6237648ORPHA026010447165090
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1RRAS CL E G H6237648ORPHA026010447165090
HP:0000407HP:0011476Profound sensorineural hearing impairment1RRAS CL E G H6237648ORPHA026010447165090
HP:0000407HP:0000408Progressive sensorineural hearing impairment1RRAS CL E G H6237648ORPHA026010447165090
HP:0000407HP:0008625Severe sensorineural hearing impairment1RRAS CL E G H6237648ORPHA026010447165090
HP:0000407HP:0000410Mixed hearing impairment1SALL1 CL E G H6299107480Townes-Brocks syndrome 1107480CN034849OMIM044110524602218
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SALL1 CL E G H6299107480Townes-Brocks syndrome 1107480CN034849OMIM044110524602218
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SALL1 CL E G H6299107480Townes-Brocks syndrome 1107480CN034849OMIM044110524602218
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SALL1 CL E G H6299107480Townes-Brocks syndrome 1107480CN034849OMIM044110524602218
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SALL1 CL E G H6299107480Townes-Brocks syndrome 1107480CN034849OMIM044110524602218
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SALL1 CL E G H6299107480Townes-Brocks syndrome 1107480CN034849OMIM044110524602218
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SALL1 CL E G H6299107480Townes-Brocks syndrome 1107480CN034849OMIM044110524602218
HP:0000407HP:0008587Mild neurosensory hearing impairment1SALL1 CL E G H6299107480Townes-Brocks syndrome 1107480CN034849OMIM044110524602218
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SALL1 CL E G H6299107480Townes-Brocks syndrome 1107480CN034849OMIM044110524602218
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SALL1 CL E G H6299107480Townes-Brocks syndrome 1107480CN034849OMIM044110524602218
HP:0000407HP:0011476Profound sensorineural hearing impairment1SALL1 CL E G H6299107480Townes-Brocks syndrome 1107480CN034849OMIM044110524602218
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SALL1 CL E G H6299107480Townes-Brocks syndrome 1107480CN034849OMIM044110524602218
HP:0000407HP:0008625Severe sensorineural hearing impairment1SALL1 CL E G H6299107480Townes-Brocks syndrome 1107480CN034849OMIM044110524602218
HP:0000407HP:0000410Mixed hearing impairment1SCN1A CL E G H6323569ORPHA0403010585182389
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SCN1A CL E G H6323569ORPHA0403010585182389
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SCN1A CL E G H6323569ORPHA0403010585182389
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SCN1A CL E G H6323569ORPHA0403010585182389
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SCN1A CL E G H6323569ORPHA0403010585182389
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SCN1A CL E G H6323569ORPHA0403010585182389
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SCN1A CL E G H6323569ORPHA0403010585182389
HP:0000407HP:0008587Mild neurosensory hearing impairment1SCN1A CL E G H6323569ORPHA0403010585182389
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SCN1A CL E G H6323569ORPHA0403010585182389
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SCN1A CL E G H6323569ORPHA0403010585182389
HP:0000407HP:0011476Profound sensorineural hearing impairment1SCN1A CL E G H6323569ORPHA0403010585182389
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SCN1A CL E G H6323569ORPHA0403010585182389
HP:0000407HP:0008625Severe sensorineural hearing impairment1SCN1A CL E G H6323569ORPHA0403010585182389
HP:0000407HP:0000410Mixed hearing impairment1SCN5A CL E G H6331154Sandhaus Ben-Ami syndromeORPHA0353110593600163
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SCN5A CL E G H6331154Sandhaus Ben-Ami syndromeORPHA0353110593600163
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SCN5A CL E G H6331154Sandhaus Ben-Ami syndromeORPHA0353110593600163
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SCN5A CL E G H6331154Sandhaus Ben-Ami syndromeORPHA0353110593600163
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SCN5A CL E G H6331154Sandhaus Ben-Ami syndromeORPHA0353110593600163
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SCN5A CL E G H6331154Sandhaus Ben-Ami syndromeORPHA0353110593600163
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SCN5A CL E G H6331154Sandhaus Ben-Ami syndromeORPHA0353110593600163
HP:0000407HP:0008587Mild neurosensory hearing impairment1SCN5A CL E G H6331154Sandhaus Ben-Ami syndromeORPHA0353110593600163
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SCN5A CL E G H6331154Sandhaus Ben-Ami syndromeORPHA0353110593600163
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SCN5A CL E G H6331154Sandhaus Ben-Ami syndromeORPHA0353110593600163
HP:0000407HP:0011476Profound sensorineural hearing impairment1SCN5A CL E G H6331154Sandhaus Ben-Ami syndromeORPHA0353110593600163
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SCN5A CL E G H6331154Sandhaus Ben-Ami syndromeORPHA0353110593600163
HP:0000407HP:0008625Severe sensorineural hearing impairment1SCN5A CL E G H6331154Sandhaus Ben-Ami syndromeORPHA0353110593600163
HP:0000407HP:0000410Mixed hearing impairment1SDHA CL E G H6389154Sandhaus Ben-Ami syndromeORPHA0250310680600857
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SDHA CL E G H6389154Sandhaus Ben-Ami syndromeORPHA0250310680600857
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SDHA CL E G H6389154Sandhaus Ben-Ami syndromeORPHA0250310680600857
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SDHA CL E G H6389154Sandhaus Ben-Ami syndromeORPHA0250310680600857
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SDHA CL E G H6389154Sandhaus Ben-Ami syndromeORPHA0250310680600857
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SDHA CL E G H6389154Sandhaus Ben-Ami syndromeORPHA0250310680600857
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SDHA CL E G H6389154Sandhaus Ben-Ami syndromeORPHA0250310680600857
HP:0000407HP:0008587Mild neurosensory hearing impairment1SDHA CL E G H6389154Sandhaus Ben-Ami syndromeORPHA0250310680600857
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SDHA CL E G H6389154Sandhaus Ben-Ami syndromeORPHA0250310680600857
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SDHA CL E G H6389154Sandhaus Ben-Ami syndromeORPHA0250310680600857
HP:0000407HP:0011476Profound sensorineural hearing impairment1SDHA CL E G H6389154Sandhaus Ben-Ami syndromeORPHA0250310680600857
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SDHA CL E G H6389154Sandhaus Ben-Ami syndromeORPHA0250310680600857
HP:0000407HP:0008625Severe sensorineural hearing impairment1SDHA CL E G H6389154Sandhaus Ben-Ami syndromeORPHA0250310680600857
HP:0000407HP:0000410Mixed hearing impairment1SEM1 CL E G H79792440ORPHA02510845601285
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SEM1 CL E G H79792440ORPHA02510845601285
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SEM1 CL E G H79792440ORPHA02510845601285
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SEM1 CL E G H79792440ORPHA02510845601285
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SEM1 CL E G H79792440ORPHA02510845601285
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SEM1 CL E G H79792440ORPHA02510845601285
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SEM1 CL E G H79792440ORPHA02510845601285
HP:0000407HP:0008587Mild neurosensory hearing impairment1SEM1 CL E G H79792440ORPHA02510845601285
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SEM1 CL E G H79792440ORPHA02510845601285
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SEM1 CL E G H79792440ORPHA02510845601285
HP:0000407HP:0011476Profound sensorineural hearing impairment1SEM1 CL E G H79792440ORPHA02510845601285
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SEM1 CL E G H79792440ORPHA02510845601285
HP:0000407HP:0008625Severe sensorineural hearing impairment1SEM1 CL E G H79792440ORPHA02510845601285
HP:0000407HP:0000410Mixed hearing impairment1SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA021410723603961
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA021410723603961
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA021410723603961
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA021410723603961
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA021410723603961
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA021410723603961
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA021410723603961
HP:0000407HP:0008587Mild neurosensory hearing impairment1SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA021410723603961
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA021410723603961
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA021410723603961
HP:0000407HP:0011476Profound sensorineural hearing impairment1SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA021410723603961
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA021410723603961
HP:0000407HP:0008625Severe sensorineural hearing impairment1SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA021410723603961
HP:0000407HP:0000410Mixed hearing impairment1SEMA3C CL E G H10512388Hirschsprung diseaseC0019569ORPHA09110725602645
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SEMA3C CL E G H10512388Hirschsprung diseaseC0019569ORPHA09110725602645
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SEMA3C CL E G H10512388Hirschsprung diseaseC0019569ORPHA09110725602645
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SEMA3C CL E G H10512388Hirschsprung diseaseC0019569ORPHA09110725602645
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SEMA3C CL E G H10512388Hirschsprung diseaseC0019569ORPHA09110725602645
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SEMA3C CL E G H10512388Hirschsprung diseaseC0019569ORPHA09110725602645
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SEMA3C CL E G H10512388Hirschsprung diseaseC0019569ORPHA09110725602645
HP:0000407HP:0008587Mild neurosensory hearing impairment1SEMA3C CL E G H10512388Hirschsprung diseaseC0019569ORPHA09110725602645
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SEMA3C CL E G H10512388Hirschsprung diseaseC0019569ORPHA09110725602645
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SEMA3C CL E G H10512388Hirschsprung diseaseC0019569ORPHA09110725602645
HP:0000407HP:0011476Profound sensorineural hearing impairment1SEMA3C CL E G H10512388Hirschsprung diseaseC0019569ORPHA09110725602645
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SEMA3C CL E G H10512388Hirschsprung diseaseC0019569ORPHA09110725602645
HP:0000407HP:0008625Severe sensorineural hearing impairment1SEMA3C CL E G H10512388Hirschsprung diseaseC0019569ORPHA09110725602645
HP:0000407HP:0000410Mixed hearing impairment1SEMA3D CL E G H223117388Hirschsprung diseaseC0019569ORPHA09810726609907
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SEMA3D CL E G H223117388Hirschsprung diseaseC0019569ORPHA09810726609907
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SEMA3D CL E G H223117388Hirschsprung diseaseC0019569ORPHA09810726609907
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SEMA3D CL E G H223117388Hirschsprung diseaseC0019569ORPHA09810726609907
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SEMA3D CL E G H223117388Hirschsprung diseaseC0019569ORPHA09810726609907
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SEMA3D CL E G H223117388Hirschsprung diseaseC0019569ORPHA09810726609907
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SEMA3D CL E G H223117388Hirschsprung diseaseC0019569ORPHA09810726609907
HP:0000407HP:0008587Mild neurosensory hearing impairment1SEMA3D CL E G H223117388Hirschsprung diseaseC0019569ORPHA09810726609907
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SEMA3D CL E G H223117388Hirschsprung diseaseC0019569ORPHA09810726609907
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SEMA3D CL E G H223117388Hirschsprung diseaseC0019569ORPHA09810726609907
HP:0000407HP:0011476Profound sensorineural hearing impairment1SEMA3D CL E G H223117388Hirschsprung diseaseC0019569ORPHA09810726609907
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SEMA3D CL E G H223117388Hirschsprung diseaseC0019569ORPHA09810726609907
HP:0000407HP:0008625Severe sensorineural hearing impairment1SEMA3D CL E G H223117388Hirschsprung diseaseC0019569ORPHA09810726609907
HP:0000407HP:0000410Mixed hearing impairment1SGCD CL E G H6444154Sandhaus Ben-Ami syndromeORPHA067310807601411
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SGCD CL E G H6444154Sandhaus Ben-Ami syndromeORPHA067310807601411
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SGCD CL E G H6444154Sandhaus Ben-Ami syndromeORPHA067310807601411
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SGCD CL E G H6444154Sandhaus Ben-Ami syndromeORPHA067310807601411
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SGCD CL E G H6444154Sandhaus Ben-Ami syndromeORPHA067310807601411
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SGCD CL E G H6444154Sandhaus Ben-Ami syndromeORPHA067310807601411
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SGCD CL E G H6444154Sandhaus Ben-Ami syndromeORPHA067310807601411
HP:0000407HP:0008587Mild neurosensory hearing impairment1SGCD CL E G H6444154Sandhaus Ben-Ami syndromeORPHA067310807601411
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SGCD CL E G H6444154Sandhaus Ben-Ami syndromeORPHA067310807601411
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SGCD CL E G H6444154Sandhaus Ben-Ami syndromeORPHA067310807601411
HP:0000407HP:0011476Profound sensorineural hearing impairment1SGCD CL E G H6444154Sandhaus Ben-Ami syndromeORPHA067310807601411
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SGCD CL E G H6444154Sandhaus Ben-Ami syndromeORPHA067310807601411
HP:0000407HP:0008625Severe sensorineural hearing impairment1SGCD CL E G H6444154Sandhaus Ben-Ami syndromeORPHA067310807601411
HP:0000407HP:0000410Mixed hearing impairment1SKI CL E G H64971606ORPHA0106210896164780
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SKI CL E G H64971606ORPHA0106210896164780
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SKI CL E G H64971606ORPHA0106210896164780
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SKI CL E G H64971606ORPHA0106210896164780
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SKI CL E G H64971606ORPHA0106210896164780
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SKI CL E G H64971606ORPHA0106210896164780
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SKI CL E G H64971606ORPHA0106210896164780
HP:0000407HP:0008587Mild neurosensory hearing impairment1SKI CL E G H64971606ORPHA0106210896164780
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SKI CL E G H64971606ORPHA0106210896164780
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SKI CL E G H64971606ORPHA0106210896164780
HP:0000407HP:0011476Profound sensorineural hearing impairment1SKI CL E G H64971606ORPHA0106210896164780
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SKI CL E G H64971606ORPHA0106210896164780
HP:0000407HP:0008625Severe sensorineural hearing impairment1SKI CL E G H64971606ORPHA0106210896164780
HP:0000407HP:0000410Mixed hearing impairment1SLC18A3 CL E G H657298914ORPHA030510936600336
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SLC18A3 CL E G H657298914ORPHA030510936600336
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SLC18A3 CL E G H657298914ORPHA030510936600336
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SLC18A3 CL E G H657298914ORPHA030510936600336
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SLC18A3 CL E G H657298914ORPHA030510936600336
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SLC18A3 CL E G H657298914ORPHA030510936600336
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SLC18A3 CL E G H657298914ORPHA030510936600336
HP:0000407HP:0008587Mild neurosensory hearing impairment1SLC18A3 CL E G H657298914ORPHA030510936600336
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SLC18A3 CL E G H657298914ORPHA030510936600336
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SLC18A3 CL E G H657298914ORPHA030510936600336
HP:0000407HP:0011476Profound sensorineural hearing impairment1SLC18A3 CL E G H657298914ORPHA030510936600336
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SLC18A3 CL E G H657298914ORPHA030510936600336
HP:0000407HP:0008625Severe sensorineural hearing impairment1SLC18A3 CL E G H657298914ORPHA030510936600336
HP:0000407HP:0000410Mixed hearing impairment1SLC25A1 CL E G H657698914ORPHA056810979190315
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SLC25A1 CL E G H657698914ORPHA056810979190315
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SLC25A1 CL E G H657698914ORPHA056810979190315
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SLC25A1 CL E G H657698914ORPHA056810979190315
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SLC25A1 CL E G H657698914ORPHA056810979190315
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SLC25A1 CL E G H657698914ORPHA056810979190315
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SLC25A1 CL E G H657698914ORPHA056810979190315
HP:0000407HP:0008587Mild neurosensory hearing impairment1SLC25A1 CL E G H657698914ORPHA056810979190315
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SLC25A1 CL E G H657698914ORPHA056810979190315
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SLC25A1 CL E G H657698914ORPHA056810979190315
HP:0000407HP:0011476Profound sensorineural hearing impairment1SLC25A1 CL E G H657698914ORPHA056810979190315
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SLC25A1 CL E G H657698914ORPHA056810979190315
HP:0000407HP:0008625Severe sensorineural hearing impairment1SLC25A1 CL E G H657698914ORPHA056810979190315
HP:0000407HP:0000410Mixed hearing impairment1SLC25A4 CL E G H291609283Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2609283C1836460OMIM033310990103220
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SLC25A4 CL E G H291609283Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2609283C1836460OMIM033310990103220
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SLC25A4 CL E G H291609283Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2609283C1836460OMIM033310990103220
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SLC25A4 CL E G H291609283Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2609283C1836460OMIM033310990103220
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SLC25A4 CL E G H291609283Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2609283C1836460OMIM033310990103220
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SLC25A4 CL E G H291609283Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2609283C1836460OMIM033310990103220
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SLC25A4 CL E G H291609283Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2609283C1836460OMIM033310990103220
HP:0000407HP:0008587Mild neurosensory hearing impairment1SLC25A4 CL E G H291609283Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2609283C1836460OMIM033310990103220
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SLC25A4 CL E G H291609283Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2609283C1836460OMIM033310990103220
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SLC25A4 CL E G H291609283Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2609283C1836460OMIM033310990103220
HP:0000407HP:0011476Profound sensorineural hearing impairment1SLC25A4 CL E G H291609283Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2609283C1836460OMIM033310990103220
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SLC25A4 CL E G H291609283Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2609283C1836460OMIM033310990103220
HP:0000407HP:0008625Severe sensorineural hearing impairment1SLC25A4 CL E G H291609283Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2609283C1836460OMIM033310990103220
HP:0000407HP:0000410Mixed hearing impairment1SLC5A7 CL E G H6048298914ORPHA045514025608761
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SLC5A7 CL E G H6048298914ORPHA045514025608761
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SLC5A7 CL E G H6048298914ORPHA045514025608761
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SLC5A7 CL E G H6048298914ORPHA045514025608761
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SLC5A7 CL E G H6048298914ORPHA045514025608761
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SLC5A7 CL E G H6048298914ORPHA045514025608761
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SLC5A7 CL E G H6048298914ORPHA045514025608761
HP:0000407HP:0008587Mild neurosensory hearing impairment1SLC5A7 CL E G H6048298914ORPHA045514025608761
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SLC5A7 CL E G H6048298914ORPHA045514025608761
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SLC5A7 CL E G H6048298914ORPHA045514025608761
HP:0000407HP:0011476Profound sensorineural hearing impairment1SLC5A7 CL E G H6048298914ORPHA045514025608761
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SLC5A7 CL E G H6048298914ORPHA045514025608761
HP:0000407HP:0008625Severe sensorineural hearing impairment1SLC5A7 CL E G H6048298914ORPHA045514025608761
HP:0000407HP:0000410Mixed hearing impairment1SNAP25 CL E G H661698914ORPHA021811132600322
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SNAP25 CL E G H661698914ORPHA021811132600322
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SNAP25 CL E G H661698914ORPHA021811132600322
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SNAP25 CL E G H661698914ORPHA021811132600322
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SNAP25 CL E G H661698914ORPHA021811132600322
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SNAP25 CL E G H661698914ORPHA021811132600322
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SNAP25 CL E G H661698914ORPHA021811132600322
HP:0000407HP:0008587Mild neurosensory hearing impairment1SNAP25 CL E G H661698914ORPHA021811132600322
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SNAP25 CL E G H661698914ORPHA021811132600322
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SNAP25 CL E G H661698914ORPHA021811132600322
HP:0000407HP:0011476Profound sensorineural hearing impairment1SNAP25 CL E G H661698914ORPHA021811132600322
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SNAP25 CL E G H661698914ORPHA021811132600322
HP:0000407HP:0008625Severe sensorineural hearing impairment1SNAP25 CL E G H661698914ORPHA021811132600322
HP:0000407HP:0000410Mixed hearing impairment1SNAP29 CL E G H934266631ORPHA065811133604202
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SNAP29 CL E G H934266631ORPHA065811133604202
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SNAP29 CL E G H934266631ORPHA065811133604202
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SNAP29 CL E G H934266631ORPHA065811133604202
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SNAP29 CL E G H934266631ORPHA065811133604202
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SNAP29 CL E G H934266631ORPHA065811133604202
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SNAP29 CL E G H934266631ORPHA065811133604202
HP:0000407HP:0008587Mild neurosensory hearing impairment1SNAP29 CL E G H934266631ORPHA065811133604202
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SNAP29 CL E G H934266631ORPHA065811133604202
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SNAP29 CL E G H934266631ORPHA065811133604202
HP:0000407HP:0011476Profound sensorineural hearing impairment1SNAP29 CL E G H934266631ORPHA065811133604202
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SNAP29 CL E G H934266631ORPHA065811133604202
HP:0000407HP:0008625Severe sensorineural hearing impairment1SNAP29 CL E G H934266631ORPHA065811133604202
HP:0000407HP:0000410Mixed hearing impairment1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM027014977616105
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM027014977616105
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM027014977616105
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM027014977616105
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM027014977616105
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM027014977616105
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM027014977616105
HP:0000407HP:0008587Mild neurosensory hearing impairment1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM027014977616105
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM027014977616105
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM027014977616105
HP:0000407HP:0011476Profound sensorineural hearing impairment1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM027014977616105
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM027014977616105
HP:0000407HP:0008625Severe sensorineural hearing impairment1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM027014977616105
HP:0000407HP:0000410Mixed hearing impairment1SOS1 CL E G H6654648ORPHA0150311187182530
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SOS1 CL E G H6654648ORPHA0150311187182530
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SOS1 CL E G H6654648ORPHA0150311187182530
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SOS1 CL E G H6654648ORPHA0150311187182530
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SOS1 CL E G H6654648ORPHA0150311187182530
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SOS1 CL E G H6654648ORPHA0150311187182530
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SOS1 CL E G H6654648ORPHA0150311187182530
HP:0000407HP:0008587Mild neurosensory hearing impairment1SOS1 CL E G H6654648ORPHA0150311187182530
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SOS1 CL E G H6654648ORPHA0150311187182530
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SOS1 CL E G H6654648ORPHA0150311187182530
HP:0000407HP:0011476Profound sensorineural hearing impairment1SOS1 CL E G H6654648ORPHA0150311187182530
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SOS1 CL E G H6654648ORPHA0150311187182530
HP:0000407HP:0008625Severe sensorineural hearing impairment1SOS1 CL E G H6654648ORPHA0150311187182530
HP:0000407HP:0000410Mixed hearing impairment1SOS2 CL E G H6655648ORPHA0125011188601247
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SOS2 CL E G H6655648ORPHA0125011188601247
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SOS2 CL E G H6655648ORPHA0125011188601247
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SOS2 CL E G H6655648ORPHA0125011188601247
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SOS2 CL E G H6655648ORPHA0125011188601247
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SOS2 CL E G H6655648ORPHA0125011188601247
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SOS2 CL E G H6655648ORPHA0125011188601247
HP:0000407HP:0008587Mild neurosensory hearing impairment1SOS2 CL E G H6655648ORPHA0125011188601247
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SOS2 CL E G H6655648ORPHA0125011188601247
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SOS2 CL E G H6655648ORPHA0125011188601247
HP:0000407HP:0011476Profound sensorineural hearing impairment1SOS2 CL E G H6655648ORPHA0125011188601247
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SOS2 CL E G H6655648ORPHA0125011188601247
HP:0000407HP:0008625Severe sensorineural hearing impairment1SOS2 CL E G H6655648ORPHA0125011188601247
HP:0000407HP:0000410Mixed hearing impairment1SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA037811190602229
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA037811190602229
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA037811190602229
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA037811190602229
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA037811190602229
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA037811190602229
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA037811190602229
HP:0000407HP:0008587Mild neurosensory hearing impairment1SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA037811190602229
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA037811190602229
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA037811190602229
HP:0000407HP:0011476Profound sensorineural hearing impairment1SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA037811190602229
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA037811190602229
HP:0000407HP:0008625Severe sensorineural hearing impairment1SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA037811190602229
HP:0000407HP:0000410Mixed hearing impairment1SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM037811190602229
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM037811190602229
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM037811190602229
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM037811190602229
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM037811190602229
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM037811190602229
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM037811190602229
HP:0000407HP:0008587Mild neurosensory hearing impairment1SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM037811190602229
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM037811190602229
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM037811190602229
HP:0000407HP:0011476Profound sensorineural hearing impairment1SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM037811190602229
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM037811190602229
HP:0000407HP:0008625Severe sensorineural hearing impairment1SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM037811190602229
HP:0000407HP:0000410Mixed hearing impairment1SOX2 CL E G H66573157Lachiewicz Sibley syndromeORPHA021111195184429
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SOX2 CL E G H66573157Lachiewicz Sibley syndromeORPHA021111195184429
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SOX2 CL E G H66573157Lachiewicz Sibley syndromeORPHA021111195184429
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SOX2 CL E G H66573157Lachiewicz Sibley syndromeORPHA021111195184429
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SOX2 CL E G H66573157Lachiewicz Sibley syndromeORPHA021111195184429
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SOX2 CL E G H66573157Lachiewicz Sibley syndromeORPHA021111195184429
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SOX2 CL E G H66573157Lachiewicz Sibley syndromeORPHA021111195184429
HP:0000407HP:0008587Mild neurosensory hearing impairment1SOX2 CL E G H66573157Lachiewicz Sibley syndromeORPHA021111195184429
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SOX2 CL E G H66573157Lachiewicz Sibley syndromeORPHA021111195184429
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SOX2 CL E G H66573157Lachiewicz Sibley syndromeORPHA021111195184429
HP:0000407HP:0011476Profound sensorineural hearing impairment1SOX2 CL E G H66573157Lachiewicz Sibley syndromeORPHA021111195184429
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SOX2 CL E G H66573157Lachiewicz Sibley syndromeORPHA021111195184429
HP:0000407HP:0008625Severe sensorineural hearing impairment1SOX2 CL E G H66573157Lachiewicz Sibley syndromeORPHA021111195184429
HP:0000407HP:0000410Mixed hearing impairment1SOX3 CL E G H66583157Lachiewicz Sibley syndromeORPHA026411199313430
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SOX3 CL E G H66583157Lachiewicz Sibley syndromeORPHA026411199313430
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SOX3 CL E G H66583157Lachiewicz Sibley syndromeORPHA026411199313430
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SOX3 CL E G H66583157Lachiewicz Sibley syndromeORPHA026411199313430
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SOX3 CL E G H66583157Lachiewicz Sibley syndromeORPHA026411199313430
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SOX3 CL E G H66583157Lachiewicz Sibley syndromeORPHA026411199313430
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SOX3 CL E G H66583157Lachiewicz Sibley syndromeORPHA026411199313430
HP:0000407HP:0008587Mild neurosensory hearing impairment1SOX3 CL E G H66583157Lachiewicz Sibley syndromeORPHA026411199313430
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SOX3 CL E G H66583157Lachiewicz Sibley syndromeORPHA026411199313430
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SOX3 CL E G H66583157Lachiewicz Sibley syndromeORPHA026411199313430
HP:0000407HP:0011476Profound sensorineural hearing impairment1SOX3 CL E G H66583157Lachiewicz Sibley syndromeORPHA026411199313430
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SOX3 CL E G H66583157Lachiewicz Sibley syndromeORPHA026411199313430
HP:0000407HP:0008625Severe sensorineural hearing impairment1SOX3 CL E G H66583157Lachiewicz Sibley syndromeORPHA026411199313430
HP:0000407HP:0000410Mixed hearing impairment1SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA07815533607984
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA07815533607984
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA07815533607984
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA07815533607984
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA07815533607984
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA07815533607984
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA07815533607984
HP:0000407HP:0008587Mild neurosensory hearing impairment1SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA07815533607984
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA07815533607984
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA07815533607984
HP:0000407HP:0011476Profound sensorineural hearing impairment1SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA07815533607984
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA07815533607984
HP:0000407HP:0008625Severe sensorineural hearing impairment1SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA07815533607984
HP:0000407HP:0000410Mixed hearing impairment1ST3GAL5 CL E G H8869370938ORPHA037310872604402
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ST3GAL5 CL E G H8869370938ORPHA037310872604402
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ST3GAL5 CL E G H8869370938ORPHA037310872604402
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ST3GAL5 CL E G H8869370938ORPHA037310872604402
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ST3GAL5 CL E G H8869370938ORPHA037310872604402
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ST3GAL5 CL E G H8869370938ORPHA037310872604402
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ST3GAL5 CL E G H8869370938ORPHA037310872604402
HP:0000407HP:0008587Mild neurosensory hearing impairment1ST3GAL5 CL E G H8869370938ORPHA037310872604402
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ST3GAL5 CL E G H8869370938ORPHA037310872604402
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ST3GAL5 CL E G H8869370938ORPHA037310872604402
HP:0000407HP:0011476Profound sensorineural hearing impairment1ST3GAL5 CL E G H8869370938ORPHA037310872604402
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ST3GAL5 CL E G H8869370938ORPHA037310872604402
HP:0000407HP:0008625Severe sensorineural hearing impairment1ST3GAL5 CL E G H8869370938ORPHA037310872604402
HP:0000407HP:0000410Mixed hearing impairment1SUFU CL E G H5168436Chromosome 3 duplication syndromeC2931333ORPHA0130616466607035
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SUFU CL E G H5168436Chromosome 3 duplication syndromeC2931333ORPHA0130616466607035
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SUFU CL E G H5168436Chromosome 3 duplication syndromeC2931333ORPHA0130616466607035
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SUFU CL E G H5168436Chromosome 3 duplication syndromeC2931333ORPHA0130616466607035
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SUFU CL E G H5168436Chromosome 3 duplication syndromeC2931333ORPHA0130616466607035
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SUFU CL E G H5168436Chromosome 3 duplication syndromeC2931333ORPHA0130616466607035
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SUFU CL E G H5168436Chromosome 3 duplication syndromeC2931333ORPHA0130616466607035
HP:0000407HP:0008587Mild neurosensory hearing impairment1SUFU CL E G H5168436Chromosome 3 duplication syndromeC2931333ORPHA0130616466607035
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SUFU CL E G H5168436Chromosome 3 duplication syndromeC2931333ORPHA0130616466607035
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SUFU CL E G H5168436Chromosome 3 duplication syndromeC2931333ORPHA0130616466607035
HP:0000407HP:0011476Profound sensorineural hearing impairment1SUFU CL E G H5168436Chromosome 3 duplication syndromeC2931333ORPHA0130616466607035
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SUFU CL E G H5168436Chromosome 3 duplication syndromeC2931333ORPHA0130616466607035
HP:0000407HP:0008625Severe sensorineural hearing impairment1SUFU CL E G H5168436Chromosome 3 duplication syndromeC2931333ORPHA0130616466607035
HP:0000407HP:0000410Mixed hearing impairment1SYT2 CL E G H12783398914ORPHA023211510600104
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1SYT2 CL E G H12783398914ORPHA023211510600104
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1SYT2 CL E G H12783398914ORPHA023211510600104
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1SYT2 CL E G H12783398914ORPHA023211510600104
HP:0000407HP:0008527Congenital sensorineural hearing impairment1SYT2 CL E G H12783398914ORPHA023211510600104
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1SYT2 CL E G H12783398914ORPHA023211510600104
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1SYT2 CL E G H12783398914ORPHA023211510600104
HP:0000407HP:0008587Mild neurosensory hearing impairment1SYT2 CL E G H12783398914ORPHA023211510600104
HP:0000407HP:0008504Moderate sensorineural hearing impairment1SYT2 CL E G H12783398914ORPHA023211510600104
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1SYT2 CL E G H12783398914ORPHA023211510600104
HP:0000407HP:0011476Profound sensorineural hearing impairment1SYT2 CL E G H12783398914ORPHA023211510600104
HP:0000407HP:0000408Progressive sensorineural hearing impairment1SYT2 CL E G H12783398914ORPHA023211510600104
HP:0000407HP:0008625Severe sensorineural hearing impairment1SYT2 CL E G H12783398914ORPHA023211510600104
HP:0000407HP:0000410Mixed hearing impairment1TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA013211528162332
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA013211528162332
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA013211528162332
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA013211528162332
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA013211528162332
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA013211528162332
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA013211528162332
HP:0000407HP:0008587Mild neurosensory hearing impairment1TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA013211528162332
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA013211528162332
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA013211528162332
HP:0000407HP:0011476Profound sensorineural hearing impairment1TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA013211528162332
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA013211528162332
HP:0000407HP:0008625Severe sensorineural hearing impairment1TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA013211528162332
HP:0000407HP:0000410Mixed hearing impairment1TAF1A CL E G H9015154Sandhaus Ben-Ami syndromeORPHA04911532604903
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TAF1A CL E G H9015154Sandhaus Ben-Ami syndromeORPHA04911532604903
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TAF1A CL E G H9015154Sandhaus Ben-Ami syndromeORPHA04911532604903
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TAF1A CL E G H9015154Sandhaus Ben-Ami syndromeORPHA04911532604903
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TAF1A CL E G H9015154Sandhaus Ben-Ami syndromeORPHA04911532604903
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TAF1A CL E G H9015154Sandhaus Ben-Ami syndromeORPHA04911532604903
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TAF1A CL E G H9015154Sandhaus Ben-Ami syndromeORPHA04911532604903
HP:0000407HP:0008587Mild neurosensory hearing impairment1TAF1A CL E G H9015154Sandhaus Ben-Ami syndromeORPHA04911532604903
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TAF1A CL E G H9015154Sandhaus Ben-Ami syndromeORPHA04911532604903
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TAF1A CL E G H9015154Sandhaus Ben-Ami syndromeORPHA04911532604903
HP:0000407HP:0011476Profound sensorineural hearing impairment1TAF1A CL E G H9015154Sandhaus Ben-Ami syndromeORPHA04911532604903
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TAF1A CL E G H9015154Sandhaus Ben-Ami syndromeORPHA04911532604903
HP:0000407HP:0008625Severe sensorineural hearing impairment1TAF1A CL E G H9015154Sandhaus Ben-Ami syndromeORPHA04911532604903
HP:0000407HP:0000410Mixed hearing impairment1TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0000407HP:0008587Mild neurosensory hearing impairment1TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0000407HP:0011476Profound sensorineural hearing impairment1TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0000407HP:0008625Severe sensorineural hearing impairment1TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0000407HP:0000410Mixed hearing impairment1TAZ CL E G H6901154Sandhaus Ben-Ami syndromeORPHA011577300394
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TAZ CL E G H6901154Sandhaus Ben-Ami syndromeORPHA011577300394
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TAZ CL E G H6901154Sandhaus Ben-Ami syndromeORPHA011577300394
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TAZ CL E G H6901154Sandhaus Ben-Ami syndromeORPHA011577300394
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TAZ CL E G H6901154Sandhaus Ben-Ami syndromeORPHA011577300394
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TAZ CL E G H6901154Sandhaus Ben-Ami syndromeORPHA011577300394
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TAZ CL E G H6901154Sandhaus Ben-Ami syndromeORPHA011577300394
HP:0000407HP:0008587Mild neurosensory hearing impairment1TAZ CL E G H6901154Sandhaus Ben-Ami syndromeORPHA011577300394
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TAZ CL E G H6901154Sandhaus Ben-Ami syndromeORPHA011577300394
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TAZ CL E G H6901154Sandhaus Ben-Ami syndromeORPHA011577300394
HP:0000407HP:0011476Profound sensorineural hearing impairment1TAZ CL E G H6901154Sandhaus Ben-Ami syndromeORPHA011577300394
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TAZ CL E G H6901154Sandhaus Ben-Ami syndromeORPHA011577300394
HP:0000407HP:0008625Severe sensorineural hearing impairment1TAZ CL E G H6901154Sandhaus Ben-Ami syndromeORPHA011577300394
HP:0000407HP:0000410Mixed hearing impairment1TCAP CL E G H8557154Sandhaus Ben-Ami syndromeORPHA029811610604488
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TCAP CL E G H8557154Sandhaus Ben-Ami syndromeORPHA029811610604488
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TCAP CL E G H8557154Sandhaus Ben-Ami syndromeORPHA029811610604488
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TCAP CL E G H8557154Sandhaus Ben-Ami syndromeORPHA029811610604488
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TCAP CL E G H8557154Sandhaus Ben-Ami syndromeORPHA029811610604488
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TCAP CL E G H8557154Sandhaus Ben-Ami syndromeORPHA029811610604488
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TCAP CL E G H8557154Sandhaus Ben-Ami syndromeORPHA029811610604488
HP:0000407HP:0008587Mild neurosensory hearing impairment1TCAP CL E G H8557154Sandhaus Ben-Ami syndromeORPHA029811610604488
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TCAP CL E G H8557154Sandhaus Ben-Ami syndromeORPHA029811610604488
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TCAP CL E G H8557154Sandhaus Ben-Ami syndromeORPHA029811610604488
HP:0000407HP:0011476Profound sensorineural hearing impairment1TCAP CL E G H8557154Sandhaus Ben-Ami syndromeORPHA029811610604488
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TCAP CL E G H8557154Sandhaus Ben-Ami syndromeORPHA029811610604488
HP:0000407HP:0008625Severe sensorineural hearing impairment1TCAP CL E G H8557154Sandhaus Ben-Ami syndromeORPHA029811610604488
HP:0000407HP:0000410Mixed hearing impairment1TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM018525382612988
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM018525382612988
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM018525382612988
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM018525382612988
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM018525382612988
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM018525382612988
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM018525382612988
HP:0000407HP:0008587Mild neurosensory hearing impairment1TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM018525382612988
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM018525382612988
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM018525382612988
HP:0000407HP:0011476Profound sensorineural hearing impairment1TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM018525382612988
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM018525382612988
HP:0000407HP:0008625Severe sensorineural hearing impairment1TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM018525382612988
HP:0000407HP:0000410Mixed hearing impairment1TMPO CL E G H7112154Sandhaus Ben-Ami syndromeORPHA059711875188380
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TMPO CL E G H7112154Sandhaus Ben-Ami syndromeORPHA059711875188380
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TMPO CL E G H7112154Sandhaus Ben-Ami syndromeORPHA059711875188380
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TMPO CL E G H7112154Sandhaus Ben-Ami syndromeORPHA059711875188380
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TMPO CL E G H7112154Sandhaus Ben-Ami syndromeORPHA059711875188380
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TMPO CL E G H7112154Sandhaus Ben-Ami syndromeORPHA059711875188380
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TMPO CL E G H7112154Sandhaus Ben-Ami syndromeORPHA059711875188380
HP:0000407HP:0008587Mild neurosensory hearing impairment1TMPO CL E G H7112154Sandhaus Ben-Ami syndromeORPHA059711875188380
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TMPO CL E G H7112154Sandhaus Ben-Ami syndromeORPHA059711875188380
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TMPO CL E G H7112154Sandhaus Ben-Ami syndromeORPHA059711875188380
HP:0000407HP:0011476Profound sensorineural hearing impairment1TMPO CL E G H7112154Sandhaus Ben-Ami syndromeORPHA059711875188380
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TMPO CL E G H7112154Sandhaus Ben-Ami syndromeORPHA059711875188380
HP:0000407HP:0008625Severe sensorineural hearing impairment1TMPO CL E G H7112154Sandhaus Ben-Ami syndromeORPHA059711875188380
HP:0000407HP:0000410Mixed hearing impairment1TNNC1 CL E G H7134154Sandhaus Ben-Ami syndromeORPHA030011943191040
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TNNC1 CL E G H7134154Sandhaus Ben-Ami syndromeORPHA030011943191040
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TNNC1 CL E G H7134154Sandhaus Ben-Ami syndromeORPHA030011943191040
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TNNC1 CL E G H7134154Sandhaus Ben-Ami syndromeORPHA030011943191040
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TNNC1 CL E G H7134154Sandhaus Ben-Ami syndromeORPHA030011943191040
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TNNC1 CL E G H7134154Sandhaus Ben-Ami syndromeORPHA030011943191040
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TNNC1 CL E G H7134154Sandhaus Ben-Ami syndromeORPHA030011943191040
HP:0000407HP:0008587Mild neurosensory hearing impairment1TNNC1 CL E G H7134154Sandhaus Ben-Ami syndromeORPHA030011943191040
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TNNC1 CL E G H7134154Sandhaus Ben-Ami syndromeORPHA030011943191040
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TNNC1 CL E G H7134154Sandhaus Ben-Ami syndromeORPHA030011943191040
HP:0000407HP:0011476Profound sensorineural hearing impairment1TNNC1 CL E G H7134154Sandhaus Ben-Ami syndromeORPHA030011943191040
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TNNC1 CL E G H7134154Sandhaus Ben-Ami syndromeORPHA030011943191040
HP:0000407HP:0008625Severe sensorineural hearing impairment1TNNC1 CL E G H7134154Sandhaus Ben-Ami syndromeORPHA030011943191040
HP:0000407HP:0000410Mixed hearing impairment1TNNI3 CL E G H7137154Sandhaus Ben-Ami syndromeORPHA065511947191044
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TNNI3 CL E G H7137154Sandhaus Ben-Ami syndromeORPHA065511947191044
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TNNI3 CL E G H7137154Sandhaus Ben-Ami syndromeORPHA065511947191044
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TNNI3 CL E G H7137154Sandhaus Ben-Ami syndromeORPHA065511947191044
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TNNI3 CL E G H7137154Sandhaus Ben-Ami syndromeORPHA065511947191044
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TNNI3 CL E G H7137154Sandhaus Ben-Ami syndromeORPHA065511947191044
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TNNI3 CL E G H7137154Sandhaus Ben-Ami syndromeORPHA065511947191044
HP:0000407HP:0008587Mild neurosensory hearing impairment1TNNI3 CL E G H7137154Sandhaus Ben-Ami syndromeORPHA065511947191044
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TNNI3 CL E G H7137154Sandhaus Ben-Ami syndromeORPHA065511947191044
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TNNI3 CL E G H7137154Sandhaus Ben-Ami syndromeORPHA065511947191044
HP:0000407HP:0011476Profound sensorineural hearing impairment1TNNI3 CL E G H7137154Sandhaus Ben-Ami syndromeORPHA065511947191044
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TNNI3 CL E G H7137154Sandhaus Ben-Ami syndromeORPHA065511947191044
HP:0000407HP:0008625Severe sensorineural hearing impairment1TNNI3 CL E G H7137154Sandhaus Ben-Ami syndromeORPHA065511947191044
HP:0000407HP:0000410Mixed hearing impairment1TNNT2 CL E G H7139154Sandhaus Ben-Ami syndromeORPHA081711949191045
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TNNT2 CL E G H7139154Sandhaus Ben-Ami syndromeORPHA081711949191045
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TNNT2 CL E G H7139154Sandhaus Ben-Ami syndromeORPHA081711949191045
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TNNT2 CL E G H7139154Sandhaus Ben-Ami syndromeORPHA081711949191045
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TNNT2 CL E G H7139154Sandhaus Ben-Ami syndromeORPHA081711949191045
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TNNT2 CL E G H7139154Sandhaus Ben-Ami syndromeORPHA081711949191045
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TNNT2 CL E G H7139154Sandhaus Ben-Ami syndromeORPHA081711949191045
HP:0000407HP:0008587Mild neurosensory hearing impairment1TNNT2 CL E G H7139154Sandhaus Ben-Ami syndromeORPHA081711949191045
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TNNT2 CL E G H7139154Sandhaus Ben-Ami syndromeORPHA081711949191045
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TNNT2 CL E G H7139154Sandhaus Ben-Ami syndromeORPHA081711949191045
HP:0000407HP:0011476Profound sensorineural hearing impairment1TNNT2 CL E G H7139154Sandhaus Ben-Ami syndromeORPHA081711949191045
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TNNT2 CL E G H7139154Sandhaus Ben-Ami syndromeORPHA081711949191045
HP:0000407HP:0008625Severe sensorineural hearing impairment1TNNT2 CL E G H7139154Sandhaus Ben-Ami syndromeORPHA081711949191045
HP:0000407HP:0000410Mixed hearing impairment1TP63 CL E G H86262440ORPHA063115979603273
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TP63 CL E G H86262440ORPHA063115979603273
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TP63 CL E G H86262440ORPHA063115979603273
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TP63 CL E G H86262440ORPHA063115979603273
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TP63 CL E G H86262440ORPHA063115979603273
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TP63 CL E G H86262440ORPHA063115979603273
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TP63 CL E G H86262440ORPHA063115979603273
HP:0000407HP:0008587Mild neurosensory hearing impairment1TP63 CL E G H86262440ORPHA063115979603273
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TP63 CL E G H86262440ORPHA063115979603273
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TP63 CL E G H86262440ORPHA063115979603273
HP:0000407HP:0011476Profound sensorineural hearing impairment1TP63 CL E G H86262440ORPHA063115979603273
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TP63 CL E G H86262440ORPHA063115979603273
HP:0000407HP:0008625Severe sensorineural hearing impairment1TP63 CL E G H86262440ORPHA063115979603273
HP:0000407HP:0000410Mixed hearing impairment1TP63 CL E G H86261896Dominant cleft palateORPHA063115979603273
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TP63 CL E G H86261896Dominant cleft palateORPHA063115979603273
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TP63 CL E G H86261896Dominant cleft palateORPHA063115979603273
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TP63 CL E G H86261896Dominant cleft palateORPHA063115979603273
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TP63 CL E G H86261896Dominant cleft palateORPHA063115979603273
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TP63 CL E G H86261896Dominant cleft palateORPHA063115979603273
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TP63 CL E G H86261896Dominant cleft palateORPHA063115979603273
HP:0000407HP:0008587Mild neurosensory hearing impairment1TP63 CL E G H86261896Dominant cleft palateORPHA063115979603273
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TP63 CL E G H86261896Dominant cleft palateORPHA063115979603273
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TP63 CL E G H86261896Dominant cleft palateORPHA063115979603273
HP:0000407HP:0011476Profound sensorineural hearing impairment1TP63 CL E G H86261896Dominant cleft palateORPHA063115979603273
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TP63 CL E G H86261896Dominant cleft palateORPHA063115979603273
HP:0000407HP:0008625Severe sensorineural hearing impairment1TP63 CL E G H86261896Dominant cleft palateORPHA063115979603273
HP:0000407HP:0000410Mixed hearing impairment1TPM1 CL E G H7168154Sandhaus Ben-Ami syndromeORPHA076712010191010
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TPM1 CL E G H7168154Sandhaus Ben-Ami syndromeORPHA076712010191010
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TPM1 CL E G H7168154Sandhaus Ben-Ami syndromeORPHA076712010191010
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TPM1 CL E G H7168154Sandhaus Ben-Ami syndromeORPHA076712010191010
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TPM1 CL E G H7168154Sandhaus Ben-Ami syndromeORPHA076712010191010
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TPM1 CL E G H7168154Sandhaus Ben-Ami syndromeORPHA076712010191010
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TPM1 CL E G H7168154Sandhaus Ben-Ami syndromeORPHA076712010191010
HP:0000407HP:0008587Mild neurosensory hearing impairment1TPM1 CL E G H7168154Sandhaus Ben-Ami syndromeORPHA076712010191010
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TPM1 CL E G H7168154Sandhaus Ben-Ami syndromeORPHA076712010191010
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TPM1 CL E G H7168154Sandhaus Ben-Ami syndromeORPHA076712010191010
HP:0000407HP:0011476Profound sensorineural hearing impairment1TPM1 CL E G H7168154Sandhaus Ben-Ami syndromeORPHA076712010191010
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TPM1 CL E G H7168154Sandhaus Ben-Ami syndromeORPHA076712010191010
HP:0000407HP:0008625Severe sensorineural hearing impairment1TPM1 CL E G H7168154Sandhaus Ben-Ami syndromeORPHA076712010191010
HP:0000407HP:0000410Mixed hearing impairment1TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0000407HP:0008587Mild neurosensory hearing impairment1TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0000407HP:0011476Profound sensorineural hearing impairment1TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0000407HP:0008625Severe sensorineural hearing impairment1TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0000407HP:0000410Mixed hearing impairment1TRNT1 CL E G H51095616084Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay616084C4015172OMIM062017341612907
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TRNT1 CL E G H51095616084Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay616084C4015172OMIM062017341612907
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TRNT1 CL E G H51095616084Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay616084C4015172OMIM062017341612907
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TRNT1 CL E G H51095616084Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay616084C4015172OMIM062017341612907
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TRNT1 CL E G H51095616084Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay616084C4015172OMIM062017341612907
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TRNT1 CL E G H51095616084Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay616084C4015172OMIM062017341612907
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TRNT1 CL E G H51095616084Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay616084C4015172OMIM062017341612907
HP:0000407HP:0008587Mild neurosensory hearing impairment1TRNT1 CL E G H51095616084Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay616084C4015172OMIM062017341612907
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TRNT1 CL E G H51095616084Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay616084C4015172OMIM062017341612907
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TRNT1 CL E G H51095616084Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay616084C4015172OMIM062017341612907
HP:0000407HP:0011476Profound sensorineural hearing impairment1TRNT1 CL E G H51095616084Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay616084C4015172OMIM062017341612907
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TRNT1 CL E G H51095616084Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay616084C4015172OMIM062017341612907
HP:0000407HP:0008625Severe sensorineural hearing impairment1TRNT1 CL E G H51095616084Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay616084C4015172OMIM062017341612907
HP:0000407HP:0000410Mixed hearing impairment1TTN CL E G H7273154Sandhaus Ben-Ami syndromeORPHA02750312403188840
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TTN CL E G H7273154Sandhaus Ben-Ami syndromeORPHA02750312403188840
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TTN CL E G H7273154Sandhaus Ben-Ami syndromeORPHA02750312403188840
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TTN CL E G H7273154Sandhaus Ben-Ami syndromeORPHA02750312403188840
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TTN CL E G H7273154Sandhaus Ben-Ami syndromeORPHA02750312403188840
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TTN CL E G H7273154Sandhaus Ben-Ami syndromeORPHA02750312403188840
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TTN CL E G H7273154Sandhaus Ben-Ami syndromeORPHA02750312403188840
HP:0000407HP:0008587Mild neurosensory hearing impairment1TTN CL E G H7273154Sandhaus Ben-Ami syndromeORPHA02750312403188840
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TTN CL E G H7273154Sandhaus Ben-Ami syndromeORPHA02750312403188840
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TTN CL E G H7273154Sandhaus Ben-Ami syndromeORPHA02750312403188840
HP:0000407HP:0011476Profound sensorineural hearing impairment1TTN CL E G H7273154Sandhaus Ben-Ami syndromeORPHA02750312403188840
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TTN CL E G H7273154Sandhaus Ben-Ami syndromeORPHA02750312403188840
HP:0000407HP:0008625Severe sensorineural hearing impairment1TTN CL E G H7273154Sandhaus Ben-Ami syndromeORPHA02750312403188840
HP:0000407HP:0000410Mixed hearing impairment1TWIST1 CL E G H7291794ORPHA021412428601622
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TWIST1 CL E G H7291794ORPHA021412428601622
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TWIST1 CL E G H7291794ORPHA021412428601622
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TWIST1 CL E G H7291794ORPHA021412428601622
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TWIST1 CL E G H7291794ORPHA021412428601622
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TWIST1 CL E G H7291794ORPHA021412428601622
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TWIST1 CL E G H7291794ORPHA021412428601622
HP:0000407HP:0008587Mild neurosensory hearing impairment1TWIST1 CL E G H7291794ORPHA021412428601622
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TWIST1 CL E G H7291794ORPHA021412428601622
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TWIST1 CL E G H7291794ORPHA021412428601622
HP:0000407HP:0011476Profound sensorineural hearing impairment1TWIST1 CL E G H7291794ORPHA021412428601622
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TWIST1 CL E G H7291794ORPHA021412428601622
HP:0000407HP:0008625Severe sensorineural hearing impairment1TWIST1 CL E G H7291794ORPHA021412428601622
HP:0000407HP:0000410Mixed hearing impairment1TXNRD2 CL E G H10587154Sandhaus Ben-Ami syndromeORPHA0106818155606448
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1TXNRD2 CL E G H10587154Sandhaus Ben-Ami syndromeORPHA0106818155606448
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1TXNRD2 CL E G H10587154Sandhaus Ben-Ami syndromeORPHA0106818155606448
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1TXNRD2 CL E G H10587154Sandhaus Ben-Ami syndromeORPHA0106818155606448
HP:0000407HP:0008527Congenital sensorineural hearing impairment1TXNRD2 CL E G H10587154Sandhaus Ben-Ami syndromeORPHA0106818155606448
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1TXNRD2 CL E G H10587154Sandhaus Ben-Ami syndromeORPHA0106818155606448
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1TXNRD2 CL E G H10587154Sandhaus Ben-Ami syndromeORPHA0106818155606448
HP:0000407HP:0008587Mild neurosensory hearing impairment1TXNRD2 CL E G H10587154Sandhaus Ben-Ami syndromeORPHA0106818155606448
HP:0000407HP:0008504Moderate sensorineural hearing impairment1TXNRD2 CL E G H10587154Sandhaus Ben-Ami syndromeORPHA0106818155606448
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1TXNRD2 CL E G H10587154Sandhaus Ben-Ami syndromeORPHA0106818155606448
HP:0000407HP:0011476Profound sensorineural hearing impairment1TXNRD2 CL E G H10587154Sandhaus Ben-Ami syndromeORPHA0106818155606448
HP:0000407HP:0000408Progressive sensorineural hearing impairment1TXNRD2 CL E G H10587154Sandhaus Ben-Ami syndromeORPHA0106818155606448
HP:0000407HP:0008625Severe sensorineural hearing impairment1TXNRD2 CL E G H10587154Sandhaus Ben-Ami syndromeORPHA0106818155606448
HP:0000407HP:0000410Mixed hearing impairment1VAMP1 CL E G H684398914ORPHA014112642185880
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1VAMP1 CL E G H684398914ORPHA014112642185880
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1VAMP1 CL E G H684398914ORPHA014112642185880
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1VAMP1 CL E G H684398914ORPHA014112642185880
HP:0000407HP:0008527Congenital sensorineural hearing impairment1VAMP1 CL E G H684398914ORPHA014112642185880
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1VAMP1 CL E G H684398914ORPHA014112642185880
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1VAMP1 CL E G H684398914ORPHA014112642185880
HP:0000407HP:0008587Mild neurosensory hearing impairment1VAMP1 CL E G H684398914ORPHA014112642185880
HP:0000407HP:0008504Moderate sensorineural hearing impairment1VAMP1 CL E G H684398914ORPHA014112642185880
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1VAMP1 CL E G H684398914ORPHA014112642185880
HP:0000407HP:0011476Profound sensorineural hearing impairment1VAMP1 CL E G H684398914ORPHA014112642185880
HP:0000407HP:0000408Progressive sensorineural hearing impairment1VAMP1 CL E G H684398914ORPHA014112642185880
HP:0000407HP:0008625Severe sensorineural hearing impairment1VAMP1 CL E G H684398914ORPHA014112642185880
HP:0000407HP:0000410Mixed hearing impairment1VCL CL E G H7414154Sandhaus Ben-Ami syndromeORPHA0117512665193065
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1VCL CL E G H7414154Sandhaus Ben-Ami syndromeORPHA0117512665193065
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1VCL CL E G H7414154Sandhaus Ben-Ami syndromeORPHA0117512665193065
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1VCL CL E G H7414154Sandhaus Ben-Ami syndromeORPHA0117512665193065
HP:0000407HP:0008527Congenital sensorineural hearing impairment1VCL CL E G H7414154Sandhaus Ben-Ami syndromeORPHA0117512665193065
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1VCL CL E G H7414154Sandhaus Ben-Ami syndromeORPHA0117512665193065
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1VCL CL E G H7414154Sandhaus Ben-Ami syndromeORPHA0117512665193065
HP:0000407HP:0008587Mild neurosensory hearing impairment1VCL CL E G H7414154Sandhaus Ben-Ami syndromeORPHA0117512665193065
HP:0000407HP:0008504Moderate sensorineural hearing impairment1VCL CL E G H7414154Sandhaus Ben-Ami syndromeORPHA0117512665193065
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1VCL CL E G H7414154Sandhaus Ben-Ami syndromeORPHA0117512665193065
HP:0000407HP:0011476Profound sensorineural hearing impairment1VCL CL E G H7414154Sandhaus Ben-Ami syndromeORPHA0117512665193065
HP:0000407HP:0000408Progressive sensorineural hearing impairment1VCL CL E G H7414154Sandhaus Ben-Ami syndromeORPHA0117512665193065
HP:0000407HP:0008625Severe sensorineural hearing impairment1VCL CL E G H7414154Sandhaus Ben-Ami syndromeORPHA0117512665193065
HP:0000407HP:0000410Mixed hearing impairment1VPS13B CL E G H157680193ORPHA048762183607817
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1VPS13B CL E G H157680193ORPHA048762183607817
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1VPS13B CL E G H157680193ORPHA048762183607817
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1VPS13B CL E G H157680193ORPHA048762183607817
HP:0000407HP:0008527Congenital sensorineural hearing impairment1VPS13B CL E G H157680193ORPHA048762183607817
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1VPS13B CL E G H157680193ORPHA048762183607817
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1VPS13B CL E G H157680193ORPHA048762183607817
HP:0000407HP:0008587Mild neurosensory hearing impairment1VPS13B CL E G H157680193ORPHA048762183607817
HP:0000407HP:0008504Moderate sensorineural hearing impairment1VPS13B CL E G H157680193ORPHA048762183607817
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1VPS13B CL E G H157680193ORPHA048762183607817
HP:0000407HP:0011476Profound sensorineural hearing impairment1VPS13B CL E G H157680193ORPHA048762183607817
HP:0000407HP:0000408Progressive sensorineural hearing impairment1VPS13B CL E G H157680193ORPHA048762183607817
HP:0000407HP:0008625Severe sensorineural hearing impairment1VPS13B CL E G H157680193ORPHA048762183607817
HP:0000407HP:0000410Mixed hearing impairment1WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM027617327615049
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM027617327615049
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM027617327615049
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM027617327615049
HP:0000407HP:0008527Congenital sensorineural hearing impairment1WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM027617327615049
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM027617327615049
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM027617327615049
HP:0000407HP:0008587Mild neurosensory hearing impairment1WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM027617327615049
HP:0000407HP:0008504Moderate sensorineural hearing impairment1WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM027617327615049
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM027617327615049
HP:0000407HP:0011476Profound sensorineural hearing impairment1WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM027617327615049
HP:0000407HP:0000408Progressive sensorineural hearing impairment1WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM027617327615049
HP:0000407HP:0008625Severe sensorineural hearing impairment1WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM027617327615049
HP:0000407HP:0000410Mixed hearing impairment1WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA036913831606417
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA036913831606417
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA036913831606417
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA036913831606417
HP:0000407HP:0008527Congenital sensorineural hearing impairment1WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA036913831606417
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA036913831606417
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA036913831606417
HP:0000407HP:0008587Mild neurosensory hearing impairment1WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA036913831606417
HP:0000407HP:0008504Moderate sensorineural hearing impairment1WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA036913831606417
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA036913831606417
HP:0000407HP:0011476Profound sensorineural hearing impairment1WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA036913831606417
HP:0000407HP:0000408Progressive sensorineural hearing impairment1WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA036913831606417
HP:0000407HP:0008625Severe sensorineural hearing impairment1WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA036913831606417
HP:0000407HP:0000410Mixed hearing impairment1WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM0127640
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM0127640
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM0127640
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM0127640
HP:0000407HP:0008527Congenital sensorineural hearing impairment1WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM0127640
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM0127640
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM0127640
HP:0000407HP:0008587Mild neurosensory hearing impairment1WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM0127640
HP:0000407HP:0008504Moderate sensorineural hearing impairment1WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM0127640
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM0127640
HP:0000407HP:0011476Profound sensorineural hearing impairment1WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM0127640
HP:0000407HP:0000408Progressive sensorineural hearing impairment1WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM0127640
HP:0000407HP:0008625Severe sensorineural hearing impairment1WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM0127640
HP:0000407HP:0000410Mixed hearing impairment1WNT10B CL E G H74802440ORPHA08512775601906
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1WNT10B CL E G H74802440ORPHA08512775601906
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1WNT10B CL E G H74802440ORPHA08512775601906
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1WNT10B CL E G H74802440ORPHA08512775601906
HP:0000407HP:0008527Congenital sensorineural hearing impairment1WNT10B CL E G H74802440ORPHA08512775601906
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1WNT10B CL E G H74802440ORPHA08512775601906
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1WNT10B CL E G H74802440ORPHA08512775601906
HP:0000407HP:0008587Mild neurosensory hearing impairment1WNT10B CL E G H74802440ORPHA08512775601906
HP:0000407HP:0008504Moderate sensorineural hearing impairment1WNT10B CL E G H74802440ORPHA08512775601906
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1WNT10B CL E G H74802440ORPHA08512775601906
HP:0000407HP:0011476Profound sensorineural hearing impairment1WNT10B CL E G H74802440ORPHA08512775601906
HP:0000407HP:0000408Progressive sensorineural hearing impairment1WNT10B CL E G H74802440ORPHA08512775601906
HP:0000407HP:0008625Severe sensorineural hearing impairment1WNT10B CL E G H74802440ORPHA08512775601906
HP:0000407HP:0000410Mixed hearing impairment1XPNPEP3 CL E G H63929613159Nephronophthisis-like nephropathy 1613159C3150419OMIM032428052613553
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1XPNPEP3 CL E G H63929613159Nephronophthisis-like nephropathy 1613159C3150419OMIM032428052613553
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1XPNPEP3 CL E G H63929613159Nephronophthisis-like nephropathy 1613159C3150419OMIM032428052613553
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1XPNPEP3 CL E G H63929613159Nephronophthisis-like nephropathy 1613159C3150419OMIM032428052613553
HP:0000407HP:0008527Congenital sensorineural hearing impairment1XPNPEP3 CL E G H63929613159Nephronophthisis-like nephropathy 1613159C3150419OMIM032428052613553
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1XPNPEP3 CL E G H63929613159Nephronophthisis-like nephropathy 1613159C3150419OMIM032428052613553
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1XPNPEP3 CL E G H63929613159Nephronophthisis-like nephropathy 1613159C3150419OMIM032428052613553
HP:0000407HP:0008587Mild neurosensory hearing impairment1XPNPEP3 CL E G H63929613159Nephronophthisis-like nephropathy 1613159C3150419OMIM032428052613553
HP:0000407HP:0008504Moderate sensorineural hearing impairment1XPNPEP3 CL E G H63929613159Nephronophthisis-like nephropathy 1613159C3150419OMIM032428052613553
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1XPNPEP3 CL E G H63929613159Nephronophthisis-like nephropathy 1613159C3150419OMIM032428052613553
HP:0000407HP:0011476Profound sensorineural hearing impairment1XPNPEP3 CL E G H63929613159Nephronophthisis-like nephropathy 1613159C3150419OMIM032428052613553
HP:0000407HP:0000408Progressive sensorineural hearing impairment1XPNPEP3 CL E G H63929613159Nephronophthisis-like nephropathy 1613159C3150419OMIM032428052613553
HP:0000407HP:0008625Severe sensorineural hearing impairment1XPNPEP3 CL E G H63929613159Nephronophthisis-like nephropathy 1613159C3150419OMIM032428052613553
HP:0000407HP:0000410Mixed hearing impairment1XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM012912831194363
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM012912831194363
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM012912831194363
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM012912831194363
HP:0000407HP:0008527Congenital sensorineural hearing impairment1XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM012912831194363
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM012912831194363
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM012912831194363
HP:0000407HP:0008587Mild neurosensory hearing impairment1XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM012912831194363
HP:0000407HP:0008504Moderate sensorineural hearing impairment1XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM012912831194363
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM012912831194363
HP:0000407HP:0011476Profound sensorineural hearing impairment1XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM012912831194363
HP:0000407HP:0000408Progressive sensorineural hearing impairment1XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM012912831194363
HP:0000407HP:0008625Severe sensorineural hearing impairment1XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM012912831194363
HP:0000407HP:0000410Mixed hearing impairment1ZIC1 CL E G H7545616602Craniosynostosis 6616602C4225269OMIM012912872600470
HP:0000407HP:0008615Adult onset sensorineural hearing impairment1ZIC1 CL E G H7545616602Craniosynostosis 6616602C4225269OMIM012912872600470
HP:0000407HP:0008619Bilateral sensorineural hearing impairment1ZIC1 CL E G H7545616602Craniosynostosis 6616602C4225269OMIM012912872600470
HP:0000407HP:0011474Childhood onset sensorineural hearing impairment1ZIC1 CL E G H7545616602Craniosynostosis 6616602C4225269OMIM012912872600470
HP:0000407HP:0008527Congenital sensorineural hearing impairment1ZIC1 CL E G H7545616602Craniosynostosis 6616602C4225269OMIM012912872600470
HP:0000407HP:0001757High-frequency sensorineural hearing impairment1ZIC1 CL E G H7545616602Craniosynostosis 6616602C4225269OMIM012912872600470
HP:0000407HP:0008573Low-frequency sensorineural hearing impairment1ZIC1 CL E G H7545616602Craniosynostosis 6616602C4225269OMIM012912872600470
HP:0000407HP:0008587Mild neurosensory hearing impairment1ZIC1 CL E G H7545616602Craniosynostosis 6616602C4225269OMIM012912872600470
HP:0000407HP:0008504Moderate sensorineural hearing impairment1ZIC1 CL E G H7545616602Craniosynostosis 6616602C4225269OMIM012912872600470
HP:0000407HP:0040113Old-aged sensorineural hearing impairment1ZIC1 CL E G H7545616602Craniosynostosis 6616602C4225269OMIM012912872600470
HP:0000407HP:0011476Profound sensorineural hearing impairment1ZIC1 CL E G H7545616602Craniosynostosis 6616602C4225269OMIM012912872600470
HP:0000407HP:0000408Progressive sensorineural hearing impairment1ZIC1 CL E G H7545616602Craniosynostosis 6616602C4225269OMIM012912872600470
HP:0000407HP:0008625Severe sensorineural hearing impairment1ZIC1 CL E G H7545616602Craniosynostosis 6616602C4225269OMIM012912872600470
HP:0000407HP:0008610Infantile sensorineural hearing impairment2A2ML1 CL E G H144568648ORPHA0140323336610627
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2A2ML1 CL E G H144568648ORPHA0140323336610627
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2A2ML1 CL E G H144568648ORPHA0140323336610627
HP:0000407HP:0008610Infantile sensorineural hearing impairment2AAAS CL E G H8086869ORPHA021713666605378
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2AAAS CL E G H8086869ORPHA021713666605378
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2AAAS CL E G H8086869ORPHA021713666605378
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ABCC9 CL E G H10060154Sandhaus Ben-Ami syndromeORPHA0150760601439
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ABCC9 CL E G H10060154Sandhaus Ben-Ami syndromeORPHA0150760601439
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ABCC9 CL E G H10060154Sandhaus Ben-Ami syndromeORPHA0150760601439
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM0681118100850
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM0681118100850
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM0681118100850
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ACTC1 CL E G H70154Sandhaus Ben-Ami syndromeORPHA0672143102540
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ACTC1 CL E G H70154Sandhaus Ben-Ami syndromeORPHA0672143102540
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ACTC1 CL E G H70154Sandhaus Ben-Ami syndromeORPHA0672143102540
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ACTN2 CL E G H88154Sandhaus Ben-Ami syndromeORPHA01361164102573
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ACTN2 CL E G H88154Sandhaus Ben-Ami syndromeORPHA01361164102573
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ACTN2 CL E G H88154Sandhaus Ben-Ami syndromeORPHA01361164102573
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ACY1 CL E G H95137754ORPHA0153177104620
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ACY1 CL E G H95137754ORPHA0153177104620
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ACY1 CL E G H95137754ORPHA0153177104620
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM0137257102750
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM0137257102750
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM0137257102750
HP:0000407HP:0008610Infantile sensorineural hearing impairment2AGRN CL E G H37579098914ORPHA02176329103320
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2AGRN CL E G H37579098914ORPHA02176329103320
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2AGRN CL E G H37579098914ORPHA02176329103320
HP:0000407HP:0008610Infantile sensorineural hearing impairment2AIFM1 CL E G H9131310490Cowchock syndrome310490C0795910OMIM05758768300169
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2AIFM1 CL E G H9131310490Cowchock syndrome310490C0795910OMIM05758768300169
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2AIFM1 CL E G H9131310490Cowchock syndrome310490C0795910OMIM05758768300169
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ALDH18A1 CL E G H5832447753ORPHA05869722138250
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ALDH18A1 CL E G H5832447753ORPHA05869722138250
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ALDH18A1 CL E G H5832447753ORPHA05869722138250
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ALG11 CL E G H440138613661Congenital disorder of glycosylation type 1P613661C3150913OMIM024432456613666
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ALG11 CL E G H440138613661Congenital disorder of glycosylation type 1P613661C3150913OMIM024432456613666
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ALG11 CL E G H440138613661Congenital disorder of glycosylation type 1P613661C3150913OMIM024432456613666
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ANKH CL E G H561721522ORPHA050815492605145
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ANKH CL E G H561721522ORPHA050815492605145
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ANKH CL E G H561721522ORPHA050815492605145
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ANKRD1 CL E G H27063154Sandhaus Ben-Ami syndromeORPHA044215819609599
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ANKRD1 CL E G H27063154Sandhaus Ben-Ami syndromeORPHA044215819609599
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ANKRD1 CL E G H27063154Sandhaus Ben-Ami syndromeORPHA044215819609599
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA04706211300836
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA04706211300836
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA04706211300836
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA019416876606036
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA019416876606036
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA019416876606036
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA043738100790
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA043738100790
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA043738100790
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ATP1A2 CL E G H477569ORPHA01117800182340
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ATP1A2 CL E G H477569ORPHA01117800182340
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ATP1A2 CL E G H477569ORPHA01117800182340
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ATP6V1B2 CL E G H5263473MeningoencephaloceleORPHA0167854606939
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ATP6V1B2 CL E G H5263473MeningoencephaloceleORPHA0167854606939
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ATP6V1B2 CL E G H5263473MeningoencephaloceleORPHA0167854606939
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ATRX CL E G H546847ORPHA01925886300032
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ATRX CL E G H546847ORPHA01925886300032
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ATRX CL E G H546847ORPHA01925886300032
HP:0000407HP:0008610Infantile sensorineural hearing impairment2BAG3 CL E G H9531154Sandhaus Ben-Ami syndromeORPHA0986939603883
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2BAG3 CL E G H9531154Sandhaus Ben-Ami syndromeORPHA0986939603883
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2BAG3 CL E G H9531154Sandhaus Ben-Ami syndromeORPHA0986939603883
HP:0000407HP:0008610Infantile sensorineural hearing impairment2BCOR CL E G H548802712HMG CoA synthetase deficiencyCN072869ORPHA068820893300485
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2BCOR CL E G H548802712HMG CoA synthetase deficiencyCN072869ORPHA068820893300485
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2BCOR CL E G H548802712HMG CoA synthetase deficiencyCN072869ORPHA068820893300485
HP:0000407HP:0008610Infantile sensorineural hearing impairment2BCR CL E G H613261330ORPHA02771014151410
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2BCR CL E G H613261330ORPHA02771014151410
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2BCR CL E G H613261330ORPHA02771014151410
HP:0000407HP:0008610Infantile sensorineural hearing impairment2BEAN1 CL E G H146227117210Spinocerebellar ataxia 31117210C1861736OMIM05624160612051
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2BEAN1 CL E G H146227117210Spinocerebellar ataxia 31117210C1861736OMIM05624160612051
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2BEAN1 CL E G H146227117210Spinocerebellar ataxia 31117210C1861736OMIM05624160612051
HP:0000407HP:0008610Infantile sensorineural hearing impairment2BMP4 CL E G H652139471ORPHA01971071112262
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2BMP4 CL E G H652139471ORPHA01971071112262
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2BMP4 CL E G H652139471ORPHA01971071112262
HP:0000407HP:0008610Infantile sensorineural hearing impairment2BRAF CL E G H673648ORPHA011821097164757
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2BRAF CL E G H673648ORPHA011821097164757
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2BRAF CL E G H673648ORPHA011821097164757
HP:0000407HP:0008610Infantile sensorineural hearing impairment2BTRC CL E G H89452440ORPHA01031144603482
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2BTRC CL E G H89452440ORPHA01031144603482
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2BTRC CL E G H89452440ORPHA01031144603482
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CACNA1A CL E G H773569ORPHA032481388601011
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CACNA1A CL E G H773569ORPHA032481388601011
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CACNA1A CL E G H773569ORPHA032481388601011
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CASK CL E G H8573300422FG syndrome 4300422CN033933OMIM08441497300172
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CASK CL E G H8573300422FG syndrome 4300422CN033933OMIM08441497300172
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CASK CL E G H8573300422FG syndrome 4300422CN033933OMIM08441497300172
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM08441497300172
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM08441497300172
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM08441497300172
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA028126821616031
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA028126821616031
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA028126821616031
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM0881736116952
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM0881736116952
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM0881736116952
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CDK5RAP2 CL E G H55755604804Primary autosomal recessive microcephaly 3604804C1858108OMIM071218672608201
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CDK5RAP2 CL E G H55755604804Primary autosomal recessive microcephaly 3604804C1858108OMIM071218672608201
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CDK5RAP2 CL E G H55755604804Primary autosomal recessive microcephaly 3604804C1858108OMIM071218672608201
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CHAT CL E G H110398914ORPHA09841912118490
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CHAT CL E G H110398914ORPHA09841912118490
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CHAT CL E G H110398914ORPHA09841912118490
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM029715559615903
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM029715559615903
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM029715559615903
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0293020626608892
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0293020626608892
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0293020626608892
HP:0000407HP:0008610Infantile sensorineural hearing impairment2COL13A1 CL E G H130598914ORPHA05592190120350
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2COL13A1 CL E G H130598914ORPHA05592190120350
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2COL13A1 CL E G H130598914ORPHA05592190120350
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM02062309605032
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM02062309605032
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM02062309605032
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CRKL CL E G H1399261330ORPHA04342363602007
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CRKL CL E G H1399261330ORPHA04342363602007
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CRKL CL E G H1399261330ORPHA04342363602007
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CRYAB CL E G H1410154Sandhaus Ben-Ami syndromeORPHA02732389123590
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CRYAB CL E G H1410154Sandhaus Ben-Ami syndromeORPHA02732389123590
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CRYAB CL E G H1410154Sandhaus Ben-Ami syndromeORPHA02732389123590
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM0107426193611654
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM0107426193611654
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM0107426193611654
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CSRP3 CL E G H8048154Sandhaus Ben-Ami syndromeORPHA04072472600824
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CSRP3 CL E G H8048154Sandhaus Ben-Ami syndromeORPHA04072472600824
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CSRP3 CL E G H8048154Sandhaus Ben-Ami syndromeORPHA04072472600824
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM03522494602618
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM03522494602618
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM03522494602618
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CTLA4 CL E G H1493900ORPHA02322505123890
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CTLA4 CL E G H1493900ORPHA02322505123890
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CTLA4 CL E G H1493900ORPHA02322505123890
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CYP7B1 CL E G H9420100986ORPHA04152652603711
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CYP7B1 CL E G H9420100986ORPHA04152652603711
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CYP7B1 CL E G H9420100986ORPHA04152652603711
HP:0000407HP:0008610Infantile sensorineural hearing impairment2CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM04152652603711
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM04152652603711
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM04152652603711
HP:0000407HP:0008610Infantile sensorineural hearing impairment2DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA02592701120470
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA02592701120470
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA02592701120470
HP:0000407HP:0008610Infantile sensorineural hearing impairment2DES CL E G H1674154Sandhaus Ben-Ami syndromeORPHA09762770125660
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2DES CL E G H1674154Sandhaus Ben-Ami syndromeORPHA09762770125660
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2DES CL E G H1674154Sandhaus Ben-Ami syndromeORPHA09762770125660
HP:0000407HP:0008610Infantile sensorineural hearing impairment2DHCR7 CL E G H1717818ORPHA07792860602858
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2DHCR7 CL E G H1717818ORPHA07792860602858
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2DHCR7 CL E G H1717818ORPHA07792860602858
HP:0000407HP:0008610Infantile sensorineural hearing impairment2DLX5 CL E G H17492440ORPHA0582918600028
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2DLX5 CL E G H17492440ORPHA0582918600028
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2DLX5 CL E G H17492440ORPHA0582918600028
HP:0000407HP:0008610Infantile sensorineural hearing impairment2DLX6 CL E G H17502440ORPHA0742919600030
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2DLX6 CL E G H17502440ORPHA0742919600030
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2DLX6 CL E G H17502440ORPHA0742919600030
HP:0000407HP:0008610Infantile sensorineural hearing impairment2DMD CL E G H1756154Sandhaus Ben-Ami syndromeORPHA081842928300377
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2DMD CL E G H1756154Sandhaus Ben-Ami syndromeORPHA081842928300377
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2DMD CL E G H1756154Sandhaus Ben-Ami syndromeORPHA081842928300377
HP:0000407HP:0008610Infantile sensorineural hearing impairment2DNASE1L3 CL E G H177636412ORPHA02002959602244
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2DNASE1L3 CL E G H177636412ORPHA02002959602244
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2DNASE1L3 CL E G H177636412ORPHA02002959602244
HP:0000407HP:0008610Infantile sensorineural hearing impairment2DOLK CL E G H22845154Sandhaus Ben-Ami syndromeORPHA052123406610746
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2DOLK CL E G H22845154Sandhaus Ben-Ami syndromeORPHA052123406610746
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2DOLK CL E G H22845154Sandhaus Ben-Ami syndromeORPHA052123406610746
HP:0000407HP:0008610Infantile sensorineural hearing impairment2DSG2 CL E G H1829154Sandhaus Ben-Ami syndromeORPHA015703049125671
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2DSG2 CL E G H1829154Sandhaus Ben-Ami syndromeORPHA015703049125671
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2DSG2 CL E G H1829154Sandhaus Ben-Ami syndromeORPHA015703049125671
HP:0000407HP:0008610Infantile sensorineural hearing impairment2DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA0663072602748
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA0663072602748
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA0663072602748
HP:0000407HP:0008610Infantile sensorineural hearing impairment2DVL1 CL E G H1855616331Robinow syndrome, autosomal dominant 2616331C4225363OMIM06663084601365
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2DVL1 CL E G H1855616331Robinow syndrome, autosomal dominant 2616331C4225363OMIM06663084601365
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2DVL1 CL E G H1855616331Robinow syndrome, autosomal dominant 2616331C4225363OMIM06663084601365
HP:0000407HP:0008610Infantile sensorineural hearing impairment2EBP CL E G H1068235173ORPHA03173133300205
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2EBP CL E G H1068235173ORPHA03173133300205
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2EBP CL E G H1068235173ORPHA03173133300205
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ECE1 CL E G H1889388Hirschsprung diseaseC0019569ORPHA0753146600423
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ECE1 CL E G H1889388Hirschsprung diseaseC0019569ORPHA0753146600423
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ECE1 CL E G H1889388Hirschsprung diseaseC0019569ORPHA0753146600423
HP:0000407HP:0008610Infantile sensorineural hearing impairment2EDC3 CL E G H80153616460Mental retardation, autosomal recessive 50616460C4225319OMIM06726114609842
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2EDC3 CL E G H80153616460Mental retardation, autosomal recessive 50616460C4225319OMIM06726114609842
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2EDC3 CL E G H80153616460Mental retardation, autosomal recessive 50616460C4225319OMIM06726114609842
HP:0000407HP:0008610Infantile sensorineural hearing impairment2EDN3 CL E G H1908388Hirschsprung diseaseC0019569ORPHA01703178131242
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2EDN3 CL E G H1908388Hirschsprung diseaseC0019569ORPHA01703178131242
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2EDN3 CL E G H1908388Hirschsprung diseaseC0019569ORPHA01703178131242
HP:0000407HP:0008610Infantile sensorineural hearing impairment2EDNRB CL E G H1910388Hirschsprung diseaseC0019569ORPHA03163180131244
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2EDNRB CL E G H1910388Hirschsprung diseaseC0019569ORPHA03163180131244
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2EDNRB CL E G H1910388Hirschsprung diseaseC0019569ORPHA03163180131244
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ELMO2 CL E G H639163019Intracranial aneurysms multiple congenital anomalyORPHA05717233606421
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ELMO2 CL E G H639163019Intracranial aneurysms multiple congenital anomalyORPHA05717233606421
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ELMO2 CL E G H639163019Intracranial aneurysms multiple congenital anomalyORPHA05717233606421
HP:0000407HP:0008610Infantile sensorineural hearing impairment2EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA0164029331615068
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA0164029331615068
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA0164029331615068
HP:0000407HP:0008610Infantile sensorineural hearing impairment2EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM0164029331615068
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM0164029331615068
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM0164029331615068
HP:0000407HP:0008610Infantile sensorineural hearing impairment2EPS15L1 CL E G H585132440ORPHA04524634616826
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2EPS15L1 CL E G H585132440ORPHA04524634616826
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2EPS15L1 CL E G H585132440ORPHA04524634616826
HP:0000407HP:0008610Infantile sensorineural hearing impairment2FBN1 CL E G H22002833ORPHA066193603134797
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2FBN1 CL E G H22002833ORPHA066193603134797
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2FBN1 CL E G H22002833ORPHA066193603134797
HP:0000407HP:0008610Infantile sensorineural hearing impairment2FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA010922788613301
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA010922788613301
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA010922788613301
HP:0000407HP:0008610Infantile sensorineural hearing impairment2FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA01193673603725
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA01193673603725
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA01193673603725
HP:0000407HP:0008610Infantile sensorineural hearing impairment2FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA0983686600483
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA0983686600483
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA0983686600483
HP:0000407HP:0008610Infantile sensorineural hearing impairment2FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA09363688136350
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA09363688136350
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA09363688136350
HP:0000407HP:0008610Infantile sensorineural hearing impairment2FGFR1 CL E G H22603157Lachiewicz Sibley syndromeORPHA09363688136350
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2FGFR1 CL E G H22603157Lachiewicz Sibley syndromeORPHA09363688136350
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2FGFR1 CL E G H22603157Lachiewicz Sibley syndromeORPHA09363688136350
HP:0000407HP:0008610Infantile sensorineural hearing impairment2FGFR2 CL E G H226387ORPHA06853689176943
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2FGFR2 CL E G H226387ORPHA06853689176943
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2FGFR2 CL E G H226387ORPHA06853689176943
HP:0000407HP:0008610Infantile sensorineural hearing impairment2FGFR2 CL E G H2263794ORPHA06853689176943
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2FGFR2 CL E G H2263794ORPHA06853689176943
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2FGFR2 CL E G H2263794ORPHA06853689176943
HP:0000407HP:0008610Infantile sensorineural hearing impairment2FGFR3 CL E G H2261794ORPHA09163690134934
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2FGFR3 CL E G H2261794ORPHA09163690134934
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2FGFR3 CL E G H2261794ORPHA09163690134934
HP:0000407HP:0008610Infantile sensorineural hearing impairment2FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM03963693605830
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM03963693605830
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM03963693605830
HP:0000407HP:0008610Infantile sensorineural hearing impairment2FHL2 CL E G H2274154Sandhaus Ben-Ami syndromeORPHA02003703602633
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2FHL2 CL E G H2274154Sandhaus Ben-Ami syndromeORPHA02003703602633
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2FHL2 CL E G H2274154Sandhaus Ben-Ami syndromeORPHA02003703602633
HP:0000407HP:0008610Infantile sensorineural hearing impairment2FIBP CL E G H9158617107Thauvin-Robinet-Faivre syndrome617107C4310715OMIM0613705608296
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2FIBP CL E G H9158617107Thauvin-Robinet-Faivre syndrome617107C4310715OMIM0613705608296
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2FIBP CL E G H9158617107Thauvin-Robinet-Faivre syndrome617107C4310715OMIM0613705608296
HP:0000407HP:0008610Infantile sensorineural hearing impairment2FKTN CL E G H2218154Sandhaus Ben-Ami syndromeORPHA09143622607440
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2FKTN CL E G H2218154Sandhaus Ben-Ami syndromeORPHA09143622607440
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2FKTN CL E G H2218154Sandhaus Ben-Ami syndromeORPHA09143622607440
HP:0000407HP:0008610Infantile sensorineural hearing impairment2FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA0773762604808
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA0773762604808
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA0773762604808
HP:0000407HP:0008610Infantile sensorineural hearing impairment2FOXE3 CL E G H230188632ORPHA03443808601094
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2FOXE3 CL E G H230188632ORPHA03443808601094
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2FOXE3 CL E G H230188632ORPHA03443808601094
HP:0000407HP:0008610Infantile sensorineural hearing impairment2GABRD CL E G H25631606ORPHA04744084137163
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2GABRD CL E G H25631606ORPHA04744084137163
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2GABRD CL E G H25631606ORPHA04744084137163
HP:0000407HP:0008610Infantile sensorineural hearing impairment2GATA3 CL E G H2625146255Barakat syndrome146255C1840333OMIM03394172131320
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2GATA3 CL E G H2625146255Barakat syndrome146255C1840333OMIM03394172131320
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2GATA3 CL E G H2625146255Barakat syndrome146255C1840333OMIM03394172131320
HP:0000407HP:0008610Infantile sensorineural hearing impairment2GATAD1 CL E G H57798154Sandhaus Ben-Ami syndromeORPHA061829941614518
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2GATAD1 CL E G H57798154Sandhaus Ben-Ami syndromeORPHA061829941614518
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2GATAD1 CL E G H57798154Sandhaus Ben-Ami syndromeORPHA061829941614518
HP:0000407HP:0008610Infantile sensorineural hearing impairment2GBA2 CL E G H57704352641ORPHA035518986609471
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2GBA2 CL E G H57704352641ORPHA035518986609471
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2GBA2 CL E G H57704352641ORPHA035518986609471
HP:0000407HP:0008610Infantile sensorineural hearing impairment2GDNF CL E G H2668388Hirschsprung diseaseC0019569ORPHA01374232600837
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2GDNF CL E G H2668388Hirschsprung diseaseC0019569ORPHA01374232600837
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2GDNF CL E G H2668388Hirschsprung diseaseC0019569ORPHA01374232600837
HP:0000407HP:0008610Infantile sensorineural hearing impairment2GJA1 CL E G H26971522ORPHA02724274121014
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2GJA1 CL E G H26971522ORPHA02724274121014
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2GJA1 CL E G H26971522ORPHA02724274121014
HP:0000407HP:0008610Infantile sensorineural hearing impairment2GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM08604283304040
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM08604283304040
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM08604283304040
HP:0000407HP:0008610Infantile sensorineural hearing impairment2GLA CL E G H2717324Slti Salem syndromeORPHA010994296300644
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2GLA CL E G H2717324Slti Salem syndromeORPHA010994296300644
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2GLA CL E G H2717324Slti Salem syndromeORPHA010994296300644
HP:0000407HP:0008610Infantile sensorineural hearing impairment2GLI3 CL E G H273736Chromosome 3 duplication syndromeC2931333ORPHA09814319165240
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2GLI3 CL E G H273736Chromosome 3 duplication syndromeC2931333ORPHA09814319165240
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2GLI3 CL E G H273736Chromosome 3 duplication syndromeC2931333ORPHA09814319165240
HP:0000407HP:0008610Infantile sensorineural hearing impairment2GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM068628510610192
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM068628510610192
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM068628510610192
HP:0000407HP:0008610Infantile sensorineural hearing impairment2GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM016624247610516
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM016624247610516
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM016624247610516
HP:0000407HP:0008610Infantile sensorineural hearing impairment2GMPPA CL E G H29926869ORPHA015022923615495
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2GMPPA CL E G H29926869ORPHA015022923615495
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2GMPPA CL E G H29926869ORPHA015022923615495
HP:0000407HP:0008610Infantile sensorineural hearing impairment2GNAS CL E G H277879443ORPHA06444392139320
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2GNAS CL E G H277879443ORPHA06444392139320
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2GNAS CL E G H277879443ORPHA06444392139320
HP:0000407HP:0008610Infantile sensorineural hearing impairment2HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM022721033610876
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM022721033610876
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM022721033610876
HP:0000407HP:0008610Infantile sensorineural hearing impairment2HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA01124877601802
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA01124877601802
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA01124877601802
HP:0000407HP:0008610Infantile sensorineural hearing impairment2HESX1 CL E G H88203157Lachiewicz Sibley syndromeORPHA01124877601802
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2HESX1 CL E G H88203157Lachiewicz Sibley syndromeORPHA01124877601802
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2HESX1 CL E G H88203157Lachiewicz Sibley syndromeORPHA01124877601802
HP:0000407HP:0008610Infantile sensorineural hearing impairment2HLA-DPA1 CL E G H3113900ORPHA0184938142880
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2HLA-DPA1 CL E G H3113900ORPHA0184938142880
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2HLA-DPA1 CL E G H3113900ORPHA0184938142880
HP:0000407HP:0008610Infantile sensorineural hearing impairment2HLA-DPB1 CL E G H3115900ORPHA0194940142858
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2HLA-DPB1 CL E G H3115900ORPHA0194940142858
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2HLA-DPB1 CL E G H3115900ORPHA0194940142858
HP:0000407HP:0008610Infantile sensorineural hearing impairment2HOMER2 CL E G H9455616707Deafness, autosomal dominant 68616707C4225240OMIM014717513604799
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2HOMER2 CL E G H9455616707Deafness, autosomal dominant 68616707C4225240OMIM014717513604799
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2HOMER2 CL E G H9455616707Deafness, autosomal dominant 68616707C4225240OMIM014717513604799
HP:0000407HP:0008610Infantile sensorineural hearing impairment2HOXA11 CL E G H320771289ORPHA0715101142958
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2HOXA11 CL E G H320771289ORPHA0715101142958
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2HOXA11 CL E G H320771289ORPHA0715101142958
HP:0000407HP:0008610Infantile sensorineural hearing impairment2HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA01125201604846
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA01125201604846
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA01125201604846
HP:0000407HP:0008610Infantile sensorineural hearing impairment2HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM024414348606441
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM024414348606441
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM024414348606441
HP:0000407HP:0008610Infantile sensorineural hearing impairment2IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0000407HP:0008610Infantile sensorineural hearing impairment2IDUA CL E G H342593474ORPHA017885391252800
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2IDUA CL E G H342593474ORPHA017885391252800
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2IDUA CL E G H342593474ORPHA017885391252800
HP:0000407HP:0008610Infantile sensorineural hearing impairment2IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA016317616606807
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA016317616606807
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA016317616606807
HP:0000407HP:0008610Infantile sensorineural hearing impairment2KAT6B CL E G H23522648ORPHA0100317582605880
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2KAT6B CL E G H23522648ORPHA0100317582605880
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2KAT6B CL E G H23522648ORPHA0100317582605880
HP:0000407HP:0008610Infantile sensorineural hearing impairment2KCNAB2 CL E G H85141606ORPHA01146229601142
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2KCNAB2 CL E G H85141606ORPHA01146229601142
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2KCNAB2 CL E G H85141606ORPHA01146229601142
HP:0000407HP:0008610Infantile sensorineural hearing impairment2KCNH1 CL E G H37563473MeningoencephaloceleORPHA05666250603305
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2KCNH1 CL E G H37563473MeningoencephaloceleORPHA05666250603305
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2KCNH1 CL E G H37563473MeningoencephaloceleORPHA05666250603305
HP:0000407HP:0008610Infantile sensorineural hearing impairment2KIF7 CL E G H37465436Chromosome 3 duplication syndromeC2931333ORPHA0140130497611254
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2KIF7 CL E G H37465436Chromosome 3 duplication syndromeC2931333ORPHA0140130497611254
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2KIF7 CL E G H37465436Chromosome 3 duplication syndromeC2931333ORPHA0140130497611254
HP:0000407HP:0008610Infantile sensorineural hearing impairment2KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA01544510604161
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA01544510604161
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA01544510604161
HP:0000407HP:0008610Infantile sensorineural hearing impairment2KRAS CL E G H3845648ORPHA04806407190070
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2KRAS CL E G H3845648ORPHA04806407190070
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2KRAS CL E G H3845648ORPHA04806407190070
HP:0000407HP:0008610Infantile sensorineural hearing impairment2LAMA4 CL E G H3910154Sandhaus Ben-Ami syndromeORPHA016136484600133
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2LAMA4 CL E G H3910154Sandhaus Ben-Ami syndromeORPHA016136484600133
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2LAMA4 CL E G H3910154Sandhaus Ben-Ami syndromeORPHA016136484600133
HP:0000407HP:0008610Infantile sensorineural hearing impairment2LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM06512151350
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM06512151350
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM06512151350
HP:0000407HP:0008610Infantile sensorineural hearing impairment2LDB3 CL E G H11155154Sandhaus Ben-Ami syndromeORPHA0122615710605906
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2LDB3 CL E G H11155154Sandhaus Ben-Ami syndromeORPHA0122615710605906
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2LDB3 CL E G H11155154Sandhaus Ben-Ami syndromeORPHA0122615710605906
HP:0000407HP:0008610Infantile sensorineural hearing impairment2LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM03676556604407
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM03676556604407
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM03676556604407
HP:0000407HP:0008610Infantile sensorineural hearing impairment2LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM07499479605490
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM07499479605490
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM07499479605490
HP:0000407HP:0008610Infantile sensorineural hearing impairment2LOR CL E G H401479395ORPHA06663152445
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2LOR CL E G H401479395ORPHA06663152445
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2LOR CL E G H401479395ORPHA06663152445
HP:0000407HP:0008610Infantile sensorineural hearing impairment2LRP2 CL E G H4036222448Donnai Barrow syndrome222448C1857277OMIM029376694600073
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2LRP2 CL E G H4036222448Donnai Barrow syndrome222448C1857277OMIM029376694600073
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2LRP2 CL E G H4036222448Donnai Barrow syndrome222448C1857277OMIM029376694600073
HP:0000407HP:0008610Infantile sensorineural hearing impairment2LRP5 CL E G H40412790ORPHA018196697603506
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2LRP5 CL E G H40412790ORPHA018196697603506
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2LRP5 CL E G H40412790ORPHA018196697603506
HP:0000407HP:0008610Infantile sensorineural hearing impairment2LZTR1 CL E G H8216648ORPHA028596742600574
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2LZTR1 CL E G H8216648ORPHA028596742600574
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2LZTR1 CL E G H8216648ORPHA028596742600574
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM02356859602614
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM02356859602614
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM02356859602614
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MAPK1 CL E G H5594261330ORPHA01406871176948
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MAPK1 CL E G H5594261330ORPHA01406871176948
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MAPK1 CL E G H5594261330ORPHA01406871176948
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MECOM CL E G H212271289ORPHA02603498165215
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MECOM CL E G H212271289ORPHA02603498165215
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MECOM CL E G H212271289ORPHA02603498165215
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MECOM CL E G H2122616738Radioulnar synostosis with amegakaryocytic thrombocytopenia 2616738C4225221OMIM02603498165215
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MECOM CL E G H2122616738Radioulnar synostosis with amegakaryocytic thrombocytopenia 2616738C4225221OMIM02603498165215
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MECOM CL E G H2122616738Radioulnar synostosis with amegakaryocytic thrombocytopenia 2616738C4225221OMIM02603498165215
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MEGF8 CL E G H1954614976Carpenter syndrome 2614976C3554247OMIM07123233604267
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MEGF8 CL E G H1954614976Carpenter syndrome 2614976C3554247OMIM07123233604267
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MEGF8 CL E G H1954614976Carpenter syndrome 2614976C3554247OMIM07123233604267
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MET CL E G H4233616705Deafness, autosomal recessive 97616705C4084709OMIM031847029164860
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MET CL E G H4233616705Deafness, autosomal recessive 97616705C4084709OMIM031847029164860
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MET CL E G H4233616705Deafness, autosomal recessive 97616705C4084709OMIM031847029164860
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MFN2 CL E G H992799947ORPHA0122216877608507
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MFN2 CL E G H992799947ORPHA0122216877608507
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MFN2 CL E G H992799947ORPHA0122216877608507
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MPDZ CL E G H8777615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies615219C3554691OMIM016107208603785
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MPDZ CL E G H8777615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies615219C3554691OMIM016107208603785
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MPDZ CL E G H8777615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies615219C3554691OMIM016107208603785
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MT-TE CL E G H45562596HantavirosisORPHA07479590025
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MT-TE CL E G H45562596HantavirosisORPHA07479590025
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MT-TE CL E G H45562596HantavirosisORPHA07479590025
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MYBPC3 CL E G H4607154Sandhaus Ben-Ami syndromeORPHA033177551600958
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MYBPC3 CL E G H4607154Sandhaus Ben-Ami syndromeORPHA033177551600958
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MYBPC3 CL E G H4607154Sandhaus Ben-Ami syndromeORPHA033177551600958
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MYH6 CL E G H4624154Sandhaus Ben-Ami syndromeORPHA021167576160710
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MYH6 CL E G H4624154Sandhaus Ben-Ami syndromeORPHA021167576160710
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MYH6 CL E G H4624154Sandhaus Ben-Ami syndromeORPHA021167576160710
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MYH7 CL E G H4625154Sandhaus Ben-Ami syndromeORPHA041067577160760
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MYH7 CL E G H4625154Sandhaus Ben-Ami syndromeORPHA041067577160760
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MYH7 CL E G H4625154Sandhaus Ben-Ami syndromeORPHA041067577160760
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MYO9A CL E G H464998914ORPHA02807608604875
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MYO9A CL E G H464998914ORPHA02807608604875
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MYO9A CL E G H464998914ORPHA02807608604875
HP:0000407HP:0008610Infantile sensorineural hearing impairment2MYPN CL E G H84665154Sandhaus Ben-Ami syndromeORPHA0148523246608517
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2MYPN CL E G H84665154Sandhaus Ben-Ami syndromeORPHA0148523246608517
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2MYPN CL E G H84665154Sandhaus Ben-Ami syndromeORPHA0148523246608517
HP:0000407HP:0008610Infantile sensorineural hearing impairment2NDP CL E G H4693649ORPHA02997678300658
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2NDP CL E G H4693649ORPHA02997678300658
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2NDP CL E G H4693649ORPHA02997678300658
HP:0000407HP:0008610Infantile sensorineural hearing impairment2NEBL CL E G H10529154Sandhaus Ben-Ami syndromeORPHA0101616932605491
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2NEBL CL E G H10529154Sandhaus Ben-Ami syndromeORPHA0101616932605491
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2NEBL CL E G H10529154Sandhaus Ben-Ami syndromeORPHA0101616932605491
HP:0000407HP:0008610Infantile sensorineural hearing impairment2NEXN CL E G H91624154Sandhaus Ben-Ami syndromeORPHA066929557613121
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2NEXN CL E G H91624154Sandhaus Ben-Ami syndromeORPHA066929557613121
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2NEXN CL E G H91624154Sandhaus Ben-Ami syndromeORPHA066929557613121
HP:0000407HP:0008610Infantile sensorineural hearing impairment2NLRC4 CL E G H5848447045ORPHA064316412606831
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2NLRC4 CL E G H5848447045ORPHA064316412606831
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2NLRC4 CL E G H5848447045ORPHA064316412606831
HP:0000407HP:0008610Infantile sensorineural hearing impairment2NLRP3 CL E G H11454847045ORPHA091716400606416
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2NLRP3 CL E G H11454847045ORPHA091716400606416
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2NLRP3 CL E G H11454847045ORPHA091716400606416
HP:0000407HP:0008610Infantile sensorineural hearing impairment2NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM01337866602991
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM01337866602991
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM01337866602991
HP:0000407HP:0008610Infantile sensorineural hearing impairment2NOTCH3 CL E G H4854136ORPHA013437883600276
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2NOTCH3 CL E G H4854136ORPHA013437883600276
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2NOTCH3 CL E G H4854136ORPHA013437883600276
HP:0000407HP:0008610Infantile sensorineural hearing impairment2NOTCH3 CL E G H48542789ORPHA013437883600276
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2NOTCH3 CL E G H48542789ORPHA013437883600276
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2NOTCH3 CL E G H48542789ORPHA013437883600276
HP:0000407HP:0008610Infantile sensorineural hearing impairment2NRAS CL E G H4893648ORPHA02817989164790
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2NRAS CL E G H4893648ORPHA02817989164790
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2NRAS CL E G H4893648ORPHA02817989164790
HP:0000407HP:0008610Infantile sensorineural hearing impairment2NRTN CL E G H4902388Hirschsprung diseaseC0019569ORPHA0338007602018
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2NRTN CL E G H4902388Hirschsprung diseaseC0019569ORPHA0338007602018
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2NRTN CL E G H4902388Hirschsprung diseaseC0019569ORPHA0338007602018
HP:0000407HP:0008610Infantile sensorineural hearing impairment2NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM053812766602952
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM053812766602952
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM053812766602952
HP:0000407HP:0008610Infantile sensorineural hearing impairment2NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA019729843608137
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA019729843608137
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA019729843608137
HP:0000407HP:0008610Infantile sensorineural hearing impairment2OTX2 CL E G H50153157Lachiewicz Sibley syndromeORPHA02318522600037
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2OTX2 CL E G H50153157Lachiewicz Sibley syndromeORPHA02318522600037
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2OTX2 CL E G H50153157Lachiewicz Sibley syndromeORPHA02318522600037
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PDK3 CL E G H5165300905Charcot-Marie-Tooth disease, X-linked dominant, 6300905C3806702OMIM03328811300906
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PDK3 CL E G H5165300905Charcot-Marie-Tooth disease, X-linked dominant, 6300905C3806702OMIM03328811300906
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PDK3 CL E G H5165300905Charcot-Marie-Tooth disease, X-linked dominant, 6300905C3806702OMIM03328811300906
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PDZD7 CL E G H79955618003DEAFNESS, AUTOSOMAL RECESSIVE 57618003CN248511OMIM092726257612971
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PDZD7 CL E G H79955618003DEAFNESS, AUTOSOMAL RECESSIVE 57618003CN248511OMIM092726257612971
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PDZD7 CL E G H79955618003DEAFNESS, AUTOSOMAL RECESSIVE 57618003CN248511OMIM092726257612971
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA09809143603851
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA09809143603851
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA09809143603851
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM030426031610274
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM030426031610274
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM030426031610274
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PITX3 CL E G H530988632ORPHA0549006602669
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PITX3 CL E G H530988632ORPHA0549006602669
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PITX3 CL E G H530988632ORPHA0549006602669
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PLAA CL E G H9373521426ORPHA05059043603873
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PLAA CL E G H9373521426ORPHA05059043603873
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PLAA CL E G H9373521426ORPHA05059043603873
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PLN CL E G H5350154Sandhaus Ben-Ami syndromeORPHA01789080172405
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PLN CL E G H5350154Sandhaus Ben-Ami syndromeORPHA01789080172405
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PLN CL E G H5350154Sandhaus Ben-Ami syndromeORPHA01789080172405
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PNPLA2 CL E G H5710498908ORPHA056630802609059
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PNPLA2 CL E G H5710498908ORPHA056630802609059
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PNPLA2 CL E G H5710498908ORPHA056630802609059
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM056630802609059
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM056630802609059
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM056630802609059
HP:0000407HP:0008610Infantile sensorineural hearing impairment2POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM030726267615247
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM030726267615247
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM030726267615247
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PPCS CL E G H79717154Sandhaus Ben-Ami syndromeORPHA020425686609853
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PPCS CL E G H79717154Sandhaus Ben-Ami syndromeORPHA020425686609853
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PPCS CL E G H79717154Sandhaus Ben-Ami syndromeORPHA020425686609853
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM013414951613257
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM013414951613257
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM013414951613257
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PRDM16 CL E G H639761606ORPHA0127214000605557
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PRDM16 CL E G H639761606ORPHA0127214000605557
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PRDM16 CL E G H639761606ORPHA0127214000605557
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PRDM16 CL E G H63976154Sandhaus Ben-Ami syndromeORPHA0127214000605557
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PRDM16 CL E G H63976154Sandhaus Ben-Ami syndromeORPHA0127214000605557
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PRDM16 CL E G H63976154Sandhaus Ben-Ami syndromeORPHA0127214000605557
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PRKDC CL E G H5591615966Immunodeficiency 26 with or without neurologic abnormalities615966C4014833OMIM037489413600899
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PRKDC CL E G H5591615966Immunodeficiency 26 with or without neurologic abnormalities615966C4014833OMIM037489413600899
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PRKDC CL E G H5591615966Immunodeficiency 26 with or without neurologic abnormalities615966C4014833OMIM037489413600899
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA06518455607002
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA06518455607002
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA06518455607002
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA016015836607123
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA016015836607123
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA016015836607123
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PROKR2 CL E G H1286743157Lachiewicz Sibley syndromeORPHA016015836607123
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PROKR2 CL E G H1286743157Lachiewicz Sibley syndromeORPHA016015836607123
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PROKR2 CL E G H1286743157Lachiewicz Sibley syndromeORPHA016015836607123
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PRRT2 CL E G H112476569ORPHA079930500614386
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PRRT2 CL E G H112476569ORPHA079930500614386
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PRRT2 CL E G H112476569ORPHA079930500614386
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PRTN3 CL E G H5657900ORPHA0559495177020
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PRTN3 CL E G H5657900ORPHA0559495177020
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PRTN3 CL E G H5657900ORPHA0559495177020
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PSEN1 CL E G H5663154Sandhaus Ben-Ami syndromeORPHA05019508104311
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PSEN1 CL E G H5663154Sandhaus Ben-Ami syndromeORPHA05019508104311
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PSEN1 CL E G H5663154Sandhaus Ben-Ami syndromeORPHA05019508104311
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PSEN2 CL E G H5664154Sandhaus Ben-Ami syndromeORPHA02799509600759
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PSEN2 CL E G H5664154Sandhaus Ben-Ami syndromeORPHA02799509600759
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PSEN2 CL E G H5664154Sandhaus Ben-Ami syndromeORPHA02799509600759
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PTPN11 CL E G H5781648ORPHA08549644176876
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PTPN11 CL E G H5781648ORPHA08549644176876
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PTPN11 CL E G H5781648ORPHA08549644176876
HP:0000407HP:0008610Infantile sensorineural hearing impairment2PTPN22 CL E G H26191900ORPHA0639652600716
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2PTPN22 CL E G H26191900ORPHA0639652600716
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2PTPN22 CL E G H26191900ORPHA0639652600716
HP:0000407HP:0008610Infantile sensorineural hearing impairment2RAF1 CL E G H5894648ORPHA09909829164760
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2RAF1 CL E G H5894648ORPHA09909829164760
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2RAF1 CL E G H5894648ORPHA09909829164760
HP:0000407HP:0008610Infantile sensorineural hearing impairment2RAF1 CL E G H5894154Sandhaus Ben-Ami syndromeORPHA09909829164760
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2RAF1 CL E G H5894154Sandhaus Ben-Ami syndromeORPHA09909829164760
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2RAF1 CL E G H5894154Sandhaus Ben-Ami syndromeORPHA09909829164760
HP:0000407HP:0008610Infantile sensorineural hearing impairment2RASA2 CL E G H5922648ORPHA05339872601589
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2RASA2 CL E G H5922648ORPHA05339872601589
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2RASA2 CL E G H5922648ORPHA05339872601589
HP:0000407HP:0008610Infantile sensorineural hearing impairment2RBM20 CL E G H282996154Sandhaus Ben-Ami syndromeORPHA0162327424613171
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2RBM20 CL E G H282996154Sandhaus Ben-Ami syndromeORPHA0162327424613171
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2RBM20 CL E G H282996154Sandhaus Ben-Ami syndromeORPHA0162327424613171
HP:0000407HP:0008610Infantile sensorineural hearing impairment2RBM8A CL E G H99393320ORPHA02529905605313
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2RBM8A CL E G H99393320ORPHA02529905605313
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2RBM8A CL E G H99393320ORPHA02529905605313
HP:0000407HP:0008610Infantile sensorineural hearing impairment2RERE CL E G H4731606ORPHA06599965605226
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2RERE CL E G H4731606ORPHA06599965605226
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2RERE CL E G H4731606ORPHA06599965605226
HP:0000407HP:0008610Infantile sensorineural hearing impairment2RET CL E G H597999803Haddad syndromeC1859587ORPHA031659967164761
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2RET CL E G H597999803Haddad syndromeC1859587ORPHA031659967164761
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2RET CL E G H597999803Haddad syndromeC1859587ORPHA031659967164761
HP:0000407HP:0008610Infantile sensorineural hearing impairment2RET CL E G H5979388Hirschsprung diseaseC0019569ORPHA031659967164761
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2RET CL E G H5979388Hirschsprung diseaseC0019569ORPHA031659967164761
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2RET CL E G H5979388Hirschsprung diseaseC0019569ORPHA031659967164761
HP:0000407HP:0008610Infantile sensorineural hearing impairment2RIT1 CL E G H6016648ORPHA026910023609591
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2RIT1 CL E G H6016648ORPHA026910023609591
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2RIT1 CL E G H6016648ORPHA026910023609591
HP:0000407HP:0008610Infantile sensorineural hearing impairment2RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ROBO3 CL E G H642212744ORPHA031413433608630
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ROBO3 CL E G H642212744ORPHA031413433608630
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ROBO3 CL E G H642212744ORPHA031413433608630
HP:0000407HP:0008610Infantile sensorineural hearing impairment2RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA051510432300075
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA051510432300075
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA051510432300075
HP:0000407HP:0008610Infantile sensorineural hearing impairment2RRAS CL E G H6237648ORPHA026010447165090
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2RRAS CL E G H6237648ORPHA026010447165090
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2RRAS CL E G H6237648ORPHA026010447165090
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SALL1 CL E G H6299107480Townes-Brocks syndrome 1107480CN034849OMIM044110524602218
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SALL1 CL E G H6299107480Townes-Brocks syndrome 1107480CN034849OMIM044110524602218
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SALL1 CL E G H6299107480Townes-Brocks syndrome 1107480CN034849OMIM044110524602218
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SCN1A CL E G H6323569ORPHA0403010585182389
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SCN1A CL E G H6323569ORPHA0403010585182389
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SCN1A CL E G H6323569ORPHA0403010585182389
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SCN5A CL E G H6331154Sandhaus Ben-Ami syndromeORPHA0353110593600163
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SCN5A CL E G H6331154Sandhaus Ben-Ami syndromeORPHA0353110593600163
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SCN5A CL E G H6331154Sandhaus Ben-Ami syndromeORPHA0353110593600163
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SDHA CL E G H6389154Sandhaus Ben-Ami syndromeORPHA0250310680600857
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SDHA CL E G H6389154Sandhaus Ben-Ami syndromeORPHA0250310680600857
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SDHA CL E G H6389154Sandhaus Ben-Ami syndromeORPHA0250310680600857
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SEM1 CL E G H79792440ORPHA02510845601285
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SEM1 CL E G H79792440ORPHA02510845601285
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SEM1 CL E G H79792440ORPHA02510845601285
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA021410723603961
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA021410723603961
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA021410723603961
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SEMA3C CL E G H10512388Hirschsprung diseaseC0019569ORPHA09110725602645
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SEMA3C CL E G H10512388Hirschsprung diseaseC0019569ORPHA09110725602645
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SEMA3C CL E G H10512388Hirschsprung diseaseC0019569ORPHA09110725602645
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SEMA3D CL E G H223117388Hirschsprung diseaseC0019569ORPHA09810726609907
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SEMA3D CL E G H223117388Hirschsprung diseaseC0019569ORPHA09810726609907
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SEMA3D CL E G H223117388Hirschsprung diseaseC0019569ORPHA09810726609907
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SGCD CL E G H6444154Sandhaus Ben-Ami syndromeORPHA067310807601411
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SGCD CL E G H6444154Sandhaus Ben-Ami syndromeORPHA067310807601411
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SGCD CL E G H6444154Sandhaus Ben-Ami syndromeORPHA067310807601411
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SKI CL E G H64971606ORPHA0106210896164780
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SKI CL E G H64971606ORPHA0106210896164780
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SKI CL E G H64971606ORPHA0106210896164780
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SLC18A3 CL E G H657298914ORPHA030510936600336
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SLC18A3 CL E G H657298914ORPHA030510936600336
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SLC18A3 CL E G H657298914ORPHA030510936600336
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SLC25A1 CL E G H657698914ORPHA056810979190315
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SLC25A1 CL E G H657698914ORPHA056810979190315
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SLC25A1 CL E G H657698914ORPHA056810979190315
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SLC25A4 CL E G H291609283Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2609283C1836460OMIM033310990103220
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SLC25A4 CL E G H291609283Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2609283C1836460OMIM033310990103220
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SLC25A4 CL E G H291609283Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2609283C1836460OMIM033310990103220
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SLC5A7 CL E G H6048298914ORPHA045514025608761
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SLC5A7 CL E G H6048298914ORPHA045514025608761
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SLC5A7 CL E G H6048298914ORPHA045514025608761
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SNAP25 CL E G H661698914ORPHA021811132600322
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SNAP25 CL E G H661698914ORPHA021811132600322
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SNAP25 CL E G H661698914ORPHA021811132600322
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SNAP29 CL E G H934266631ORPHA065811133604202
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SNAP29 CL E G H934266631ORPHA065811133604202
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SNAP29 CL E G H934266631ORPHA065811133604202
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM027014977616105
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM027014977616105
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM027014977616105
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SOS1 CL E G H6654648ORPHA0150311187182530
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SOS1 CL E G H6654648ORPHA0150311187182530
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SOS1 CL E G H6654648ORPHA0150311187182530
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SOS2 CL E G H6655648ORPHA0125011188601247
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SOS2 CL E G H6655648ORPHA0125011188601247
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SOS2 CL E G H6655648ORPHA0125011188601247
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA037811190602229
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA037811190602229
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA037811190602229
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM037811190602229
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM037811190602229
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM037811190602229
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SOX2 CL E G H66573157Lachiewicz Sibley syndromeORPHA021111195184429
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SOX2 CL E G H66573157Lachiewicz Sibley syndromeORPHA021111195184429
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SOX2 CL E G H66573157Lachiewicz Sibley syndromeORPHA021111195184429
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SOX3 CL E G H66583157Lachiewicz Sibley syndromeORPHA026411199313430
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SOX3 CL E G H66583157Lachiewicz Sibley syndromeORPHA026411199313430
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SOX3 CL E G H66583157Lachiewicz Sibley syndromeORPHA026411199313430
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA07815533607984
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA07815533607984
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA07815533607984
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ST3GAL5 CL E G H8869370938ORPHA037310872604402
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ST3GAL5 CL E G H8869370938ORPHA037310872604402
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ST3GAL5 CL E G H8869370938ORPHA037310872604402
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SUFU CL E G H5168436Chromosome 3 duplication syndromeC2931333ORPHA0130616466607035
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SUFU CL E G H5168436Chromosome 3 duplication syndromeC2931333ORPHA0130616466607035
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SUFU CL E G H5168436Chromosome 3 duplication syndromeC2931333ORPHA0130616466607035
HP:0000407HP:0008610Infantile sensorineural hearing impairment2SYT2 CL E G H12783398914ORPHA023211510600104
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2SYT2 CL E G H12783398914ORPHA023211510600104
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2SYT2 CL E G H12783398914ORPHA023211510600104
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA013211528162332
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA013211528162332
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA013211528162332
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TAF1A CL E G H9015154Sandhaus Ben-Ami syndromeORPHA04911532604903
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TAF1A CL E G H9015154Sandhaus Ben-Ami syndromeORPHA04911532604903
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TAF1A CL E G H9015154Sandhaus Ben-Ami syndromeORPHA04911532604903
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TAZ CL E G H6901154Sandhaus Ben-Ami syndromeORPHA011577300394
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TAZ CL E G H6901154Sandhaus Ben-Ami syndromeORPHA011577300394
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TAZ CL E G H6901154Sandhaus Ben-Ami syndromeORPHA011577300394
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TCAP CL E G H8557154Sandhaus Ben-Ami syndromeORPHA029811610604488
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TCAP CL E G H8557154Sandhaus Ben-Ami syndromeORPHA029811610604488
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TCAP CL E G H8557154Sandhaus Ben-Ami syndromeORPHA029811610604488
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM018525382612988
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM018525382612988
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM018525382612988
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TMPO CL E G H7112154Sandhaus Ben-Ami syndromeORPHA059711875188380
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TMPO CL E G H7112154Sandhaus Ben-Ami syndromeORPHA059711875188380
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TMPO CL E G H7112154Sandhaus Ben-Ami syndromeORPHA059711875188380
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TNNC1 CL E G H7134154Sandhaus Ben-Ami syndromeORPHA030011943191040
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TNNC1 CL E G H7134154Sandhaus Ben-Ami syndromeORPHA030011943191040
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TNNC1 CL E G H7134154Sandhaus Ben-Ami syndromeORPHA030011943191040
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TNNI3 CL E G H7137154Sandhaus Ben-Ami syndromeORPHA065511947191044
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TNNI3 CL E G H7137154Sandhaus Ben-Ami syndromeORPHA065511947191044
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TNNI3 CL E G H7137154Sandhaus Ben-Ami syndromeORPHA065511947191044
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TNNT2 CL E G H7139154Sandhaus Ben-Ami syndromeORPHA081711949191045
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TNNT2 CL E G H7139154Sandhaus Ben-Ami syndromeORPHA081711949191045
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TNNT2 CL E G H7139154Sandhaus Ben-Ami syndromeORPHA081711949191045
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TP63 CL E G H86262440ORPHA063115979603273
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TP63 CL E G H86262440ORPHA063115979603273
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TP63 CL E G H86262440ORPHA063115979603273
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TP63 CL E G H86261896Dominant cleft palateORPHA063115979603273
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TP63 CL E G H86261896Dominant cleft palateORPHA063115979603273
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TP63 CL E G H86261896Dominant cleft palateORPHA063115979603273
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TPM1 CL E G H7168154Sandhaus Ben-Ami syndromeORPHA076712010191010
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TPM1 CL E G H7168154Sandhaus Ben-Ami syndromeORPHA076712010191010
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TPM1 CL E G H7168154Sandhaus Ben-Ami syndromeORPHA076712010191010
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TRNT1 CL E G H51095616084Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay616084C4015172OMIM062017341612907
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TRNT1 CL E G H51095616084Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay616084C4015172OMIM062017341612907
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TRNT1 CL E G H51095616084Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay616084C4015172OMIM062017341612907
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TTN CL E G H7273154Sandhaus Ben-Ami syndromeORPHA02750312403188840
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TTN CL E G H7273154Sandhaus Ben-Ami syndromeORPHA02750312403188840
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TTN CL E G H7273154Sandhaus Ben-Ami syndromeORPHA02750312403188840
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TWIST1 CL E G H7291794ORPHA021412428601622
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TWIST1 CL E G H7291794ORPHA021412428601622
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TWIST1 CL E G H7291794ORPHA021412428601622
HP:0000407HP:0008610Infantile sensorineural hearing impairment2TXNRD2 CL E G H10587154Sandhaus Ben-Ami syndromeORPHA0106818155606448
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2TXNRD2 CL E G H10587154Sandhaus Ben-Ami syndromeORPHA0106818155606448
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2TXNRD2 CL E G H10587154Sandhaus Ben-Ami syndromeORPHA0106818155606448
HP:0000407HP:0008610Infantile sensorineural hearing impairment2VAMP1 CL E G H684398914ORPHA014112642185880
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2VAMP1 CL E G H684398914ORPHA014112642185880
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2VAMP1 CL E G H684398914ORPHA014112642185880
HP:0000407HP:0008610Infantile sensorineural hearing impairment2VCL CL E G H7414154Sandhaus Ben-Ami syndromeORPHA0117512665193065
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2VCL CL E G H7414154Sandhaus Ben-Ami syndromeORPHA0117512665193065
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2VCL CL E G H7414154Sandhaus Ben-Ami syndromeORPHA0117512665193065
HP:0000407HP:0008610Infantile sensorineural hearing impairment2VPS13B CL E G H157680193ORPHA048762183607817
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2VPS13B CL E G H157680193ORPHA048762183607817
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2VPS13B CL E G H157680193ORPHA048762183607817
HP:0000407HP:0008610Infantile sensorineural hearing impairment2WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM027617327615049
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM027617327615049
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM027617327615049
HP:0000407HP:0008610Infantile sensorineural hearing impairment2WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA036913831606417
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA036913831606417
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA036913831606417
HP:0000407HP:0008610Infantile sensorineural hearing impairment2WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM0127640
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM0127640
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM0127640
HP:0000407HP:0008610Infantile sensorineural hearing impairment2WNT10B CL E G H74802440ORPHA08512775601906
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2WNT10B CL E G H74802440ORPHA08512775601906
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2WNT10B CL E G H74802440ORPHA08512775601906
HP:0000407HP:0008610Infantile sensorineural hearing impairment2XPNPEP3 CL E G H63929613159Nephronophthisis-like nephropathy 1613159C3150419OMIM032428052613553
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2XPNPEP3 CL E G H63929613159Nephronophthisis-like nephropathy 1613159C3150419OMIM032428052613553
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2XPNPEP3 CL E G H63929613159Nephronophthisis-like nephropathy 1613159C3150419OMIM032428052613553
HP:0000407HP:0008610Infantile sensorineural hearing impairment2XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM012912831194363
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM012912831194363
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM012912831194363
HP:0000407HP:0008610Infantile sensorineural hearing impairment2ZIC1 CL E G H7545616602Craniosynostosis 6616602C4225269OMIM012912872600470
HP:0000407HP:0008596Postlingual sensorineural hearing impairment2ZIC1 CL E G H7545616602Craniosynostosis 6616602C4225269OMIM012912872600470
HP:0000407HP:0000399Prelingual sensorineural hearing impairment2ZIC1 CL E G H7545616602Craniosynostosis 6616602C4225269OMIM012912872600470


Genes (672) :A2ML1 AAAS AARS ABCA4 ABCC9 ABHD12 ABHD5 ACO2 ACOX1 ACTB ACTC1 ACTG1 ACTN2 ACVR1 ACY1 ADAMTSL1 ADCY1 ADGRV1 ADK AGBL5 AGRN AHI1 AHR AIFM1 ALDH18A1 ALG11 ALG12 ALMS1 AMMECR1 ANKH ANKRD1 ANOS1 AP1S2 APOPT1 ARHGDIA ARHGEF18 ARID1B ARL2BP ARL3 ARL6 ARNT2 ARSA ARSG ASCL1 ATP1A2 ATP1A3 ATP6AP1 ATP6V0A4 ATP6V1B1 ATP6V1B2 ATRX BAG3 BAZ1B BBS2 BCAP31 BCOR BCR BCS1L BEAN1 BEST1 BMP4 BRAF BSND BTD BTK BTRC C8ORF37 C8orf37 C9ORF72 CA4 CACNA1A CASK CATSPER2 CCBE1 CCDC141 CCDC50 CD151 CD164 CDC42 CDH11 CDH23 CDHR1 CDK5RAP2 CEP78 CERKL CHAT CHCHD10 CHD7 CHN1 CHSY1 CIB2 CISD2 CLCNKA CLCNKB CLDN14 CLIC5 CLIP2 CLPP CLRN1 CNGA1 CNGB1 COA7 COA8 COCH COL11A1 COL11A2 COL13A1 COL25A1 COL2A1 COL4A3 COL4A5 COL9A1 COL9A2 COL9A3 COQ2 COQ6 COX1 COX10 COX14 COX15 COX2 COX20 COX3 COX6B1 COX8A CPLX1 CRB1 CRKL CRX CRYAB CRYM CSPP1 CSRP3 CTBP1 CTLA4 CYP7B1 CYTB DAB1 DCAF17 DCC DCDC2 DCHS1 DDB2 DES DGUOK DHCR7 DHDDS DHX38 DIABLO DIAPH1 DIAPH3 DKK1 DLX5 DLX6 DMD DMP1 DNAJC19 DNAJC3 DNASE1L3 DNMT1 DOLK DSG2 DSPP DUSP6 DUX4 DVL1 EBP ECE1 EDC3 EDN3 EDNRB EFNB1 ELMO2 ELN ENPP1 EPG5 EPS15L1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESPN ESRRB EXOSC2 EYA1 EYA4 EYS FAM161A FAM20C FAS FASTKD2 FAT4 FBN1 FEZF1 FGF10 FGF17 FGF3 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FHL2 FIBP FKBP14 FKTN FLNA FLNB FLRT3 FOXC1 FOXE3 FOXI1 FRG1 FSCN2 FTO FUS GAB1 GABRD GALE GATA2 GATA3 GATAD1 GBA2 GDF5 GDF6 GDNF GFER GIPC3 GJA1 GJB1 GJB2 GJB3 GJB6 GJC2 GLA GLI3 GLIS3 GLYCTK GMPPA GMPPB GNAS GNRH1 GNRHR GPSM2 GRHL2 GRXCR1 GRXCR2 GSDME GTF2E2 GTF2I GTF2IRD1 GUCA1B GUCY2D HACE1 HARS HARS2 HDAC8 HESX1 HGF HGSNAT HLA-DPA1 HLA-DPB1 HOMER2 HOXA1 HOXA11 HOXA2 HOXB1 HS6ST1 HSD17B10 HSD17B4 HTRA2 IARS IARS2 IDH3B IDUA IFT140 IFT172 IFT88 IGBP1 IGF1 IL17RD ILDR1 IMPDH1 IMPG2 IRX5 KAT6B KCNAB2 KCNE1 KCNH1 KCNJ10 KCNQ1 KDM6A KIAA1549 KIF7 KISS1 KISS1R KITLG KIZ KLHL7 KMT2A KMT2D KRAS KYNU LAMA4 LARS LDB3 LETM1 LHFPL5 LHX3 LIMK1 LMNA LMX1B LONP1 LOR LOXHD1 LRAT LRP2 LRP4 LRP5 LRTOMT LZTR1 MAF MAFB MAK MAN2B1 MAP2K1 MAP3K20 MAP3K7 MAPK1 MARS2 MARVELD2 MBTPS2 MCM2 MECOM MED12 MEGF8 MEOX1 MERTK MET MFN2 MGAT2 MIR96 MITF MLXIPL MOGS MPDZ MPZ MPZL2 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-RNR1 MT-TE MT-TF MT-TH MT-TI MT-TK MT-TL1 MT-TN MT-TP MT-TQ MT-TS1 MT-TS2 MT-TW MYBPC3 MYH14 MYH6 MYH7 MYO15A MYO3A MYO6 MYO7A MYO9A MYPN NAGA ND1 ND4 ND5 ND6 NDP NDUFS4 NEBL NEK2 NEU1 NEXN NF2 NIPBL NLRC4 NLRP12 NLRP3 NOG NOTCH3 NR2E3 NRAS NRL NRTN NSD2 NSMF OFD1 OPA1 OSBPL2 OTOA OTOF OTX2 P2RX2 PAX1 PAX2 PAX3 PCARE PCDH15 PCNT PDE6A PDE6B PDE6G PDGFRB PDK3 PDZD7 PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGM3 PHOX2B PHYH PIGV PIK3R1 PITX3 PJVK PLAA PLN PMP22 PNPLA2 PNPLA6 PNPLA8 POGZ POLD1 POLG POMGNT1 POMK PORCN POU3F4 PPCS PPP1R15B PRCD PRDM16 PRDM5 PRKDC PROK2 PROKR2 PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PRRT2 PRTN3 PSAP PSEN1 PSEN2 PTDSS1 PTPN11 PTPN22 PTRH2 RAB23 RAC1 RAD21 RAF1 RAP1A RAP1B RASA2 RBM20 RBM8A RBP3 RDH12 RDX REEP6 RERE RET RFC2 RFT1 RGR RHO RIPOR2 RIT1 RLBP1 RNASET2 RNR1 ROBO3 ROM1 RP1 RP2 RP9 RPE65 RPGR RPL10 RPS28 RPS6KA3 RRAS RRM2B S1PR2 SAG SALL1 SALL4 SBF2 SCAPER SCN1A SCN5A SCO1 SDHA SEM1 SEMA3A SEMA3C SEMA3D SEMA3E SEMA4A SERAC1 SETBP1 SETD5 SGCD SIX1 SIX6 SKI SLC17A8 SLC18A3 SLC19A2 SLC25A1 SLC25A4 SLC26A4 SLC26A5 SLC29A3 SLC39A14 SLC44A4 SLC4A11 SLC52A2 SLC52A3 SLC5A7 SLC7A14 SMC1A SMC3 SMCHD1 SMPX SNAI2 SNAP25 SNAP29 SNRNP200 SNX14 SOS1 SOS2 SOST SOX10 SOX2 SOX3 SPATA5 SPATA7 SPRY4 SPTLC1 SQSTM1 ST3GAL5 STRC SUCLA2 SUFU SUMF1 SURF1 SYNE4 SYT2 TAC3 TACO1 TACR3 TAF1A TANGO2 TARDBP TAZ TBC1D24 TBK1 TBL2 TBX22 TCAP TECTA TFAP2A THRB TIMM8A TK2 TMC1 TMEM126A TMPO TMPRSS3 TNFRSF11B TNNC1 TNNI3 TNNT2 TOPORS TP63 TPM1 TPRN TRAPPC11 TRIOBP TRNC TRNE TRNF TRNH TRNI TRNK TRNL1 TRNN TRNP TRNQ TRNS1 TRNS2 TRNT1 TRNV TRNW TRPV3 TRPV4 TSPEAR TTC8 TTN TUB TUBB3 TULP1 TWIST1 TWNK TXNRD2 TYMP TYR UBR1 USH1C USH1G USH2A VAMP1 VCL VCP VHL VPS11 VPS13B WAC WDR11 WFS1 WHCR WHRN WNT10B XPA XPC XPNPEP3 XRCC4 XYLT2 YAP1 ZIC1 ZMPSTE24 ZNF408 ZNF469 ZNF513

Diseases (524) :648 869 613287 791 154 612674 98907 275630 614559 2971 79107 243310 607371 135100 137754 609924 231178 614300 98914 310490 447753 613661 607143 300990 1522 478 304340 615244 251056 3157 231183 99803 569 1171 601338 300972 267300 124480 3473 616455 847 301040 309580 904 300475 2712 300166 261330 123 256000 262000 117210 139471 613707 163950 602522 253260 47 2440 163937 300422 300749 94064 235510 607453 609057 616969 616737 231169 604804 617236 615911 612370 233 3463 604928 613090 614035 616042 276902 220110 618094 440354 250984 560 90654 154780 604841 166100 1427 601868 609706 215150 184840 90653 271700 108300 104200 301050 614134 614284 607426 614650 550 194190 616357 615636 900 100986 270800 363710 241080 610212 601390 910 617070 818 614152 124900 609129 220600 289176 241520 616192 36412 314404 604121 614116 269 616331 35173 388 616460 613265 895 277580 1520 3019 194050 1493 242840 1466 278730 610651 214150 133540 278800 216400 609006 608565 617763 52429 602588 601316 605362 3437 615546 2833 90024 147950 794 87 53271 610474 602849 617107 300179 1826 305620 272460 602482 88632 705 600791 158900 612938 605428 1606 230350 3226 146255 352641 3250 613076 302800 2698 477 494 601544 220290 2202 602540 148210 320401 613206 324 36 610199 220120 615350 79443 608641 204000 464282 616756 614926 199 616707 601536 71289 605432 614744 300438 233400 617248 617093 616007 93474 93476 52055 300472 608747 609646 611174 199343 612780 2322 616697 615438 231720 221750 740 161200 1458 600373 79395 222448 2143 3152 2790 3416 144750 601088 248500 616890 617137 659 616738 305450 614976 214300 616705 99947 212066 613074 103470 606056 615219 607736 600060 276900 609242 551 649 310600 252010 812 256550 637 122470 47045 1451 611762 611377 136 2789 613224 1215 616896 616340 607039 601071 120330 1529 122880 148820 609533 2637 601812 300905 618003 912 772 3220 234580 44 601539 214100 614871 266510 614877 614867 614873 614863 773 614879 266500 215100 615816 239300 3163 269880 610220 521426 118300 98908 610717 2377 615381 157640 603041 298 607459 615249 1435 616817 90354 615966 1187 311070 304500 300661 151050 151100 616263 201000 617751 3320 612015 612951 2744 435938 303600 192 610419 107480 959 607323 604563 614739 608389 605192 206900 605583 49827 249270 609283 613865 602782 144755 617606 1490 217400 614707 211530 300066 66631 609528 616354 163746 609136 611584 613266 616577 162400 370938 603720 1933 612073 585 616684 616878 220500 921 601543 603629 113620 3221 606705 600974 612989 601072 239000 1896 613307 2596 225 545000 1349 616084 606071 614861 2315 243800 602092 606943 892 193300 466934 193 616708 222300 607084 278700 613159 616541 605822 1473 616602 264470 604717 521445 605472 64 203800 123000 432 309271 309263 309256 618144 602722 79499 500 275872 611102 1299 214800 605282 609439 614129 436271 3450 540000 3464 329314 268882 66634 445062 605594 113650 259775 149730 2791 610706 614557 274600 2237 118100 330054 218400 304400 612643 604213 613285 615837 600994 616943 612290 436174 73272 612347 220400 79155 610265 613079 611451 157800 314603 616968 601152 103500 193510 618145 397744 600652 600316 607101 606346 607821 601317 575 607115 191900 125250 608224 615560 894 193500 602083 251950 616364 70595 305600 611022 606164 608890 615540 304700 254875 609823 300570 276904 276901 411590 600965 610154 601386 601369 601869 608265 610153 616515 798
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.