- A -
Acrootoocular Syndrome [MESH:C564866] (1)
Albinism ocular late onset sensorineural deafness [MESH:C537043] (137)
Arthrogryposis-like hand anomaly and sensorineural deafness [MESH:C535386] (1)
Ataxia, Deafness, and Cardiomyopathy [MESH:C565932] (1)
Athabaskan brainstem dysgenesis [MESH:C535397] (40)
Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease [MESH:C565928] (1)
Auditory Neuropathy, Nonsyndromic Recessive [MESH:C563398] (1)
Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities [MESH:C566234] (1)
Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss [MESH:C537789] (1)
- B -
BADS Syndrome [MESH:C562663] (1)
Barakat syndrome [MESH:C537907] (71)
Bartter Syndrome, Type 4A [MESH:C566530] (27)
Bartter Syndrome, Type 4b [MESH:C567762] (14)
Bjornstad syndrome [MESH:C537633] (23)
Boudhina Yedes Khiari syndrome [MESH:C537939] (1)
Brachydactyly, Intraventricular Septal Defect, And Deafness [MESH:C566521] (1)
Brown-Vialetto-Van Laere syndrome [MESH:C537111] (10)
- C -
CAPOS syndrome [MESH:C535351] (1)
Cardiomyopathy, Dilated, 1J [MESH:C565337] (26)
Cataract ataxia deafness [MESH:C538283] (1)
Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation [MESH:C563390] (1)
Cerebellar Ataxia and Hypergonadotropic Hypogonadism [MESH:C565308] (1)
Cerebellar Ataxia and Neurosensory Deafness [MESH:C565869] (1)
Cerebellar Ataxia, Deafness, and Narcolepsy [MESH:C565825] (1)
Charcot-Marie-Tooth disease and deafness [MESH:C538078] (1)
Charcot-Marie-Tooth disease, Type 2J [MESH:C535417] (22)
Chitty Hall Baraitser syndrome [MESH:C535928] (1)
Chudley-Mccullough syndrome [MESH:C535459] (45)
Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss [MESH:C536427] (1)
Cochleosaccular degeneration of the inner ear and progressive cataracts [MESH:C536432] (1)
Coloboma, cleft lip/palate and mental retardation syndrome [MESH:C535971] (1)
Congenital ectodermal dysplasia with hearing loss [MESH:C535757] (1)
Corneal dystrophy and perceptive deafness [MESH:C535473] (17)
Cowchock syndrome [MESH:C536450] (1)
Craniofacial deafness hand syndrome [MESH:C536453] (27)
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness [MESH:C565306] (1)
- D -
Deafness enamel hypoplasia nail defects [MESH:C535994] (1)
Deafness oligodontia syndrome [MESH:C538049] (1)
Deafness, Aminoglycoside-Induced [MESH:C564013] (12)
Deafness, Autosomal Dominant 1 [MESH:C565121] (13)
Deafness, Autosomal Dominant 10 [MESH:C563354] (26)
Deafness, Autosomal Dominant 11 [MESH:C563353] (24)
Deafness, Autosomal Dominant 12 [MESH:C563295] (8)
Deafness, Autosomal Dominant 13 [MESH:C566612] (16)
Deafness, Autosomal Dominant 15 [MESH:C566545] (4)
Deafness, Autosomal Dominant 16 [MESH:C565832] (1)
Deafness, Autosomal Dominant 18 [MESH:C565267] (1)
Deafness, Autosomal Dominant 20 [MESH:C565754] (69)
Deafness, Autosomal Dominant 21 [MESH:C564634] (1)
Deafness, Autosomal Dominant 23 [MESH:C565357] (26)
Deafness, Autosomal Dominant 24 [MESH:C565239] (1)
Deafness, Autosomal Dominant 25 [MESH:C565319] (22)
Deafness, Autosomal Dominant 28 [MESH:C563890] (8)
Deafness, Autosomal Dominant 2A [MESH:C567441] (36)
Deafness, Autosomal Dominant 2B [MESH:C567214] (18)
Deafness, Autosomal Dominant 30 [MESH:C564706] (1)
Deafness, Autosomal Dominant 31 [MESH:C563888] (1)
Deafness, Autosomal Dominant 36 [MESH:C564675] (4)
Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 [MESH:C565316] (18)
Deafness, Autosomal Dominant 3A [MESH:C567277] (77)
Deafness, Autosomal Dominant 3B [MESH:C567215] (18)
Deafness, Autosomal Dominant 4 [MESH:C563460] (1)
Deafness, Autosomal Dominant 41 [MESH:C564272] (1)
Deafness, Autosomal Dominant 43 [MESH:C564246] (1)
Deafness, Autosomal Dominant 44 [MESH:C564399] (18)
Deafness, Autosomal Dominant 47 [MESH:C563885] (1)
Deafness, Autosomal Dominant 48 [MESH:C564322] (10)
Deafness, Autosomal Dominant 49 [MESH:C564250] (1)
Deafness, Autosomal Dominant 5 [MESH:C563410] (30)
Deafness, Autosomal Dominant 52 [MESH:C564348] (1)
Deafness, Autosomal Dominant 53 [MESH:C566495] (1)
Deafness, Autosomal Dominant 59 [MESH:C567216] (1)
Deafness, Autosomal Dominant 6 [MESH:C563421] (32)
Deafness, Autosomal Dominant 7 [MESH:C563321] (1)
Deafness, Autosomal Dominant 9 [MESH:C563335] (33)
Deafness, Autosomal Recessive 10 [MESH:C565341] (1)
Deafness, Autosomal Recessive 12 [MESH:C563327] (46)
Deafness, Autosomal Recessive 13 [MESH:C566410] (1)
Deafness, Autosomal Recessive 14 [MESH:C566344] (1)
Deafness, Autosomal Recessive 15 [MESH:C566611] (1)
Deafness, Autosomal Recessive 16 [MESH:C566339] (3)
Deafness, Autosomal Recessive 17 [MESH:C566418] (1)
Deafness, Autosomal Recessive 18 [MESH:C566580] (1)
Deafness, Autosomal Recessive 1A [MESH:C567134] (88)
Deafness, Autosomal Recessive 1b [MESH:C567213] (18)
Deafness, Autosomal Recessive 2 [MESH:C564007] (24)
Deafness, Autosomal Recessive 20 [MESH:C565828] (1)
Deafness, Autosomal Recessive 21 [MESH:C566353] (8)
Deafness, Autosomal Recessive 22 [MESH:C564633] (7)
Deafness, Autosomal Recessive 23 [MESH:C563705] (11)
Deafness, Autosomal Recessive 26 [MESH:C565329] (1)
Deafness, Autosomal Recessive 27 [MESH:C565287] (1)
Deafness, Autosomal Recessive 28 [MESH:C565218] (26)
Deafness, Autosomal Recessive 3 [MESH:C563961] (2)
Deafness, Autosomal Recessive 30 [MESH:C564624] (5)
Deafness, Autosomal Recessive 31 [MESH:C564629] (13)
Deafness, Autosomal Recessive 32 [MESH:C563884] (1)
Deafness, Autosomal Recessive 33 [MESH:C564602] (1)
Deafness, Autosomal Recessive 35 [MESH:C563908] (17)
Deafness, Autosomal Recessive 36 [MESH:C563815] (1)
Deafness, Autosomal Recessive 37 [MESH:C564331] (35)
Deafness, Autosomal Recessive 38 [MESH:C564273] (1)
Deafness, Autosomal Recessive 39 [MESH:C564265] (137)
Deafness, Autosomal Recessive 40 [MESH:C564266] (1)
Deafness, Autosomal Recessive 42 [MESH:C566460] (11)
Deafness, Autosomal Recessive 44 [MESH:C565716] (1)
Deafness, Autosomal Recessive 46 [MESH:C566459] (1)
Deafness, Autosomal Recessive 47 [MESH:C566498] (1)
Deafness, Autosomal Recessive 48 [MESH:C563720] (1)
Deafness, Autosomal Recessive 49 [MESH:C565717] (12)
Deafness, Autosomal Recessive 5 [MESH:C563444] (1)
Deafness, Autosomal Recessive 53 [MESH:C566453] (16)
Deafness, Autosomal Recessive 59 [MESH:C565698] (5)
Deafness, Autosomal Recessive 6 [MESH:C563418] (13)
Deafness, Autosomal Recessive 62 [MESH:C565719] (1)
Deafness, Autosomal Recessive 63 [MESH:C566951] (4)
Deafness, Autosomal Recessive 65 [MESH:C565211] (1)
Deafness, Autosomal Recessive 66 [MESH:C565701] (1)
Deafness, Autosomal Recessive 67 [MESH:C565207] (16)
Deafness, Autosomal Recessive 68 [MESH:C563669] (1)
Deafness, Autosomal Recessive 7 [MESH:C563417] (4)
Deafness, Autosomal Recessive 71 [MESH:C567562] (1)
Deafness, Autosomal Recessive 77 [MESH:C567543] (1)
Deafness, Autosomal Recessive 79 [MESH:C567651] (7)
Deafness, Autosomal Recessive 9 [MESH:C563396] (12)
Deafness, Autosomal Recessive [MESH:C564609] (1)
Deafness, Autosomal Recessive, 24 [MESH:C567027] (1)
Deafness, Childhood-Onset Neurosensory, Autosomal Recessive 8 [MESH:C563395] (1)
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia [MESH:C565195] (11)
Deafness, Congenital, with Total Albinism [MESH:C565646] (1)
Deafness, High-Frequency Sensorineural, X-Linked [MESH:C564432] (1)
Deafness, Mid-Tone Neural [MESH:C565122] (1)
Deafness, Progressive High-Tone Neural [MESH:C562423] (1)
Deafness, Sensorineural, And Male Infertility [MESH:C567010] (1)
Deafness, Sensorineural, Autosomal-Mitochondrial Type [MESH:C565637] (1)
Deafness, Sensorineural, with Hypertrophic Cardiomyopathy [MESH:C565236] (1)
Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease [MESH:C565120] (1)
Deafness, X-Linked 1 [MESH:C564433] (31)
Deafness, X-Linked 3 [MESH:C564727] (1)
Deafness, X-Linked 4 [MESH:C564723] (1)
Deafness, X-Linked 5 [MESH:C564472] (1)
Deafness, autosomal dominant nonsyndromic sensorineural 17 [MESH:C538050] (1)
Deafness, autosomal dominant nonsyndromic sensorineural 22 [MESH:C538197] (1)
Deafness, autosomal dominant nonsyndromic sensorineural 23 [MESH:C538198] (1)
Deafness, autosomal dominant nonsyndromic sensorineural 24 [MESH:C538199] (1)
Digitorenocerebral Syndrome [MESH:C563052] (1)
Donnai-Barrow syndrome [MESH:C536390] (40)
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- E -
Ectodermal Dysplasia and Neurosensory Deafness [MESH:C565606] (1)
Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features [MESH:C536182] (1)
Enlarged Vestibular Aqueduct [MESH:C566366] (1)
Ermine phenotype [MESH:C535508] (1)
- F -
Fitzsimmons Walson Mellor syndrome [MESH:C537937] (1)
Flynn Aird syndrome [MESH:C537066] (1)
Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness [MESH:C564999] (1)
- G -
Gemignani syndrome [MESH:C537678] (1)
Gonadal dysgenesis XX type deafness [MESH:C537286] (1)
Griscelli syndrome type 1 [MESH:C537301] (42)
- H -
HID Syndrome [MESH:C566528] (1)
Hearing Loss, Central [MESH:D006313] (140)
Hearing Loss, Noise-Induced [MESH:D006317] (134)
Histiocytosis with joint contractures and sensorineural deafness [MESH:C538322] (22)
Hittner Hirsch Kreh syndrome [MESH:C538323] (1)
Homozygous 11p15-p14 Deletion Syndrome [MESH:C564701] (1)
- I -
Insulin-Like Growth Factor I Deficiency [MESH:C563867] (346)
- J -
Johanson Blizzard syndrome [MESH:C535880] (17)
- K -
Keratoderma palmoplantar deafness [MESH:C536152] (68)
Knuckle pads, leuconychia and sensorineural deafness [MESH:C537210] (68)
- L -
Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones [MESH:C564283] (1)
- M -
MYH9-Related Disorders [MESH:C535507] (46)
Macrothrombocytopenia progressive deafness [MESH:C537831] (46)
Marshall syndrome [MESH:C536025] (52)
Martin-Probst Deafness-Mental Retardation Syndrome [MESH:C564495] (1)
- N -
Nephropathy deafness hyperparathyroidism [MESH:C536401] (1)
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness [MESH:C563798] (43)
Nephropathy, Progressive, with Deafness [MESH:C563713] (1)
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia [MESH:C566352] (1)
Nonsyndromic sensorineural hearing loss [MESH:C537845] (1)
- O -
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy [MESH:C565117] (1)
Optic atrophy 1 and deafness [MESH:C537124] (30)
Otodental Dysplasia [MESH:C563482] (1)
Otofacioosseous-Gonadal Syndrome [MESH:C566597] (1)
- P -
Paragangliomas with Sensorineural Hearing Loss [MESH:C566831] (1)
Pendred syndrome [MESH:C536648] (35)
Pfeiffer Kapferer syndrome [MESH:C537887] (1)
Presbycusis [MESH:D011304] (3)
Progressive hearing loss stapes fixation [MESH:C536424] (9)
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness [MESH:C562894] (1)
- R -
Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss [MESH:C566428] (1)
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness [MESH:C562897] (11)
Retinitis Pigmentosa Inversa with Deafness [MESH:C564842] (1)
Robinson Miller Bensimon syndrome [MESH:C535864] (1)
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction [MESH:C564829] (1)
- S -
Schaap Taylor Baraitser syndrome [MESH:C536626] (1)
SeSAME syndrome [MESH:C557674] (1)
Sensorineural Deafness With Mild Renal Dysfunction [MESH:C567544] (1)
Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth [MESH:C566560] (1)
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy [MESH:C566682] (1)
Split-Hand/Foot Malformation With Sensorineural Hearing Loss [MESH:C565647] (1)
Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness [MESH:C566659] (1)
Stickler Syndrome, Autosomal Recessive, COL9A1-Related [MESH:C565177] (1)
Stickler syndrome, type 1 [MESH:C537492] (89)
- T -
Thiamine responsive megaloblastic anemia syndrome [MESH:C536510] (39)
Townes-Brocks syndrome [MESH:C536974] (28)
Townes-Brocks-Branchiootorenal-Like Syndrome [MESH:C566272] (1)
Treft Sanborn Carey syndrome [MESH:C536544] (1)
Tunglang Savage Bellman syndrome [MESH:C536927] (1)
- U -
Usher Syndromes [MESH:D052245] (83)
- V -
Vohwinkel syndrome [MESH:C536457] (68)
- W -
Winkelman Bethge Pfeiffer syndrome [MESH:C536710] (16)
Wolfram Syndrome 2 [MESH:C565733] (1)
Wolfram Syndrome, Mitochondrial Form [MESH:C564012] (1)
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