| 疾病名称 | 别名 |  | 
                    
                    
                        | Usher Syndrome, Type Ic | 
                                
                                    
                                    | USH1C |  Usher Syndrome Type 1c |  
                                    
                                    
                                    |  Usher Syndrome, Type 1c |  Usher Syndrome Type I Acadian Variety |  
                                    
                                    
                                    |  Usher Syndrome Type Ic |  Usher Syndrome, Type I, Acadian Variety |  
                                    
                                    
                                    |  Usher Syndrome 1c |  Acadian Usher Syndrome |  
                                    
                                    
                                    |  Usher'S Syndrome Type 1c |  | 
                                
                             | 
                    
                    
                        | Deafness, Autosomal Recessive 18a | 
                                
                                    
                                    | Deafness, Autosomal Recessive 18 |  DFNB18A |  
                                    
                                    
                                    |  Dfnb18 |  Autosomal Recessive Nonsyndromic Deafness 18a |  
                                    
                                    
                                    |  Autosomal Recessive Deafness 18a |  Deafness, Autosomal Recessive, 18a |  
                                    
                                    
                                    |  Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 18 |  Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 18 |  
                                    
                                    
                                    |  Deafness, Autosomal Recessive, Type 18a |  | 
                                
                             | 
                    
                    
                        | Usher Syndrome, Type I | 
                                
                                    
                                    | USH1 |  Usher Syndrome Type 1 |  
                                    
                                    
                                    |  Us1 |  Usher Syndrome, Type 1b |  
                                    
                                    
                                    |  Usher Syndrome Type 1e |  Retinitis Pigmentosa And Congenital Deafness |  
                                    
                                    
                                    |  Usher Syndrome, Type Ie |  USH1E |  
                                    
                                    
                                    |  Usher Syndrome, Type 1e |  Usher Syndrome, Type 1a |  
                                    
                                    
                                    |  Usher Syndrome, Type Ib |  Usher Syndrome Type 1b |  
                                    
                                    
                                    |  Usher Syndrome Type Ie |  Usher Syndrome Type I |  
                                    
                                    
                                    |  Usher 1 |  Usher Syndrome, Type 1 |  
                                    
                                    
                                    |  Ush1a |  Usher Syndrome, Type I, French Variety |  
                                    
                                    
                                    |  Usher Syndrome, Type Ia |  Usher Syndrome 1b |  
                                    
                                    
                                    |  USH1B |  Usher'S Syndrome Type 1b |  
                                    
                                    
                                    |  Usher Syndrome Type Ib |  Ushib |  | 
                                
                             | 
                    
                    
                        | Usher Syndrome | 
                                
                                    
                                    | Deafness-Retinitis Pigmentosa Syndrome |  Dystrophia Retinae Pigmentosa-Dysostosis Syndrome |  
                                    
                                    
                                    |  Graefe-Usher Syndrome |  Hallgren Syndrome |  
                                    
                                    
                                    |  Usher'S Syndrome |  Retinitis Pigmentosa-Deafness Syndrome |  
                                    
                                    
                                    |  Retinitis Pigmentosa-Hearing Loss Syndrome |  Ush |  
                                    
                                    
                                    |  Usher Syndromes |  | 
                                
                             | 
                    
                    
                        | Usher Syndrome Type 2 | 
                                
                                    
                                    | Ush2 |  Usher Syndrome Type Ii |  |  | 
                    
                    
                        | Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb | 
                                
                                    
                                    | Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb |  Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb |  
                                    
                                    
                                    |  Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb |  Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb |  
                                    
                                    
                                    |  Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb |  Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb |  
                                    
                                    
                                    |  Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb |  | 
                                
                             | 
                    
                    
                        | Fundus Dystrophy | 
                                
                                    
                                    | Retinal Dystrophy |  Retinal Dystrophies |  
                                    
                                    
                                    |  Dystrophy, Retinal |  | 
                                
                             | 
                    
                    
                        | Rare Genetic Deafness | 
                                
                                    
                                    | Rare Genetic Hearing Loss |  |  | 
                    
                    
                        | Retinitis Pigmentosa | 
                                
                                    
                                    | RP |  Rod-Cone Dystrophy |  
                                    
                                    
                                    |  Autosomal Recessive Retinitis Pigmentosa |  Non-Syndromic Retinitis Pigmentosa |  
                                    
                                    
                                    |  Pericentral Pigmentary Retinopathy |  Pigmentary Retinopathy |  
                                    
                                    
                                    |  Tapetoretinal Degeneration |  Rcd |  
                                    
                                    
                                    |  Retinitis Pigmentosa Autosomal Recessive |  ARRP |  
                                    
                                    
                                    |  Retinitis Pigmentosa, Autosomal Recessive |  Retinitis Pigmentosa 1 |  | 
                                
                             | 
                    
                    
                        | Cone-Rod Dystrophy 2 | 
                                
                                    
                                    | Cone-Rod Dystrophy |  CORD2 |  
                                    
                                    
                                    |  Cone-Rod Retinal Dystrophy |  Rcrd2 |  
                                    
                                    
                                    |  Cone-Rod Retinal Dystrophy 2 |  Crd2 |  
                                    
                                    
                                    |  Cord |  Crd |  
                                    
                                    
                                    |  Retinal Cone-Rod Dystrophy |  Cone-Rod Retinal Dystrophy-2 |  
                                    
                                    
                                    |  Retinal Cone-Rod Dystrophy 2 |  Tapetoretinal Degeneration |  
                                    
                                    
                                    |  Cone-Rod Degeneration |  Cone Rod Dystrophy |  
                                    
                                    
                                    |  Dystrophy, Cone-Rod |  Dystrophy, Cone-Rod, Type 2 |  
                                    
                                    
                                    |  Retinitis Pigmentosa |  Retinitis Pigmentosa 2 |  
                                    
                                    
                                    |  Progressive Cone-Rod Dystrophy |  | 
                                
                             | 
                    
                    
                        | Autoimmune Enteropathy |  |  | 
                    
                    
                        | Deafness, Autosomal Recessive |  |  | 
                    
                    
                        | Autosomal Recessive Nonsyndromic Deafness | 
                                
                                    
                                    | Deafness, Autosomal Recessive, Nonsyndromic |  |  | 
                    
                    
                        | Retinal Degeneration |  |  | 
                    
                    
                        | Usher Syndrome, Type Iiia | 
                                
                                    
                                    | Usher Syndrome Type 3 |  Ush3 |  
                                    
                                    
                                    |  Usher Syndrome Type 3a |  USH3A |  
                                    
                                    
                                    |  Usher Syndrome, Type Iii |  Usher Syndrome, Type 3 |  
                                    
                                    
                                    |  Usher Syndrome, Type 3a |  Usher Syndrome Type Iiia |  
                                    
                                    
                                    |  Usher Syndrome 3a |  Usher'S Syndrome Type 3 |  
                                    
                                    
                                    |  Usher Syndrome Iii |  Usher Syndrome Type Iii |  | 
                                
                             | 
                    
                    
                        | Deafness, Autosomal Dominant 11 | 
                                
                                    
                                    | DFNA11 |  Autosomal Dominant Nonsyndromic Deafness 11 |  
                                    
                                    
                                    |  Autosomal Dominant Deafness 11 |  Deafness, Autosomal Dominant, 11 |  
                                    
                                    
                                    |  Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 11 |  Deafness, Autosomal Dominant, Type 11 |  | 
                                
                             | 
                    
                    
                        | Deafness, Autosomal Recessive 23 | 
                                
                                    
                                    | DFNB23 |  Autosomal Recessive Nonsyndromic Deafness 23 |  
                                    
                                    
                                    |  Autosomal Recessive Deafness 23 |  Deafness, Autosomal Recessive, 23 |  
                                    
                                    
                                    |  Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 23 |  Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 23 |  
                                    
                                    
                                    |  Deafness, Autosomal Recessive, Type 23 |  | 
                                
                             | 
                    
                    
                        | Deafness, Autosomal Dominant 59 | 
                                
                                    
                                    | DFNA59 |  Autosomal Dominant Nonsyndromic Deafness 59 |  
                                    
                                    
                                    |  Autosomal Dominant Deafness 59 |  | 
                                
                             | 
                    
                    
                        | Deafness, Autosomal Recessive 2 | 
                                
                                    
                                    | DFNB2 |  Neurosensory Nonsyndromic Recessive Deafness 2 |  
                                    
                                    
                                    |  Nsrd2 |  Autosomal Recessive Nonsyndromic Deafness 2 |  
                                    
                                    
                                    |  Deafness, Autosomal Recessive, Type 2 |  Autosomal Recessive Deafness 2 |  
                                    
                                    
                                    |  Deafness, Autosomal Recessive, 2 |  Deafness Neurosensory Autosomal Recessive 2 |  
                                    
                                    
                                    |  Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 2 |  Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 2 |  
                                    
                                    
                                    |  Deafness, Autosomal Recessive 2, Neurosensory |  | 
                                
                             | 
                    
                    
                        | Usher Syndrome, Type Ig | 
                                
                                    
                                    | Usher Syndrome Type 1g |  USH1G |  
                                    
                                    
                                    |  Usher Syndrome, Type 1g |  Usher Syndrome Type Ig |  
                                    
                                    
                                    |  Usher Syndrome 1g |  Usher'S Syndrome Type 1g |  | 
                                
                             | 
                    
                    
                        | Deafness, Autosomal Recessive 57 | 
                                
                                    
                                    | DFNB57 |  Autosomal Recessive Nonsyndromic Deafness 57 |  
                                    
                                    
                                    |  Autosomal Recessive Deafness 57 |  Deafness, Autosomal Recessive, 57 |  
                                    
                                    
                                    |  Deafness, Autosomal Recessive, Type 57 |  | 
                                
                             | 
                    
                    
                        | Usher Syndrome, Type Iid | 
                                
                                    
                                    | Usher Syndrome Type 2d |  USH2D |  
                                    
                                    
                                    |  Usher Syndrome, Type 2d |  Usher Syndrome Type Iid |  
                                    
                                    
                                    |  Usher Syndrome 2d |  Usher Syndrome, Type Ii |  | 
                                
                             | 
                    
                    
                        | Deafness, Autosomal Recessive 12 | 
                                
                                    
                                    | DFNB12 |  Deafness, Autosomal Recessive 12, Modifier Of |  
                                    
                                    
                                    |  Autosomal Recessive Nonsyndromic Deafness 12 |  Autosomal Recessive Deafness 12 |  
                                    
                                    
                                    |  Deafness, Autosomal Recessive, 12 |  Congenital Neurosensory Deafness Autosomal Recessive 12 |  
                                    
                                    
                                    |  Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 12 |  Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 12 |  
                                    
                                    
                                    |  Deafness, Autosomal Recessive, Type 12 |  | 
                                
                             | 
                    
                    
                        | Deafness, Autosomal Recessive 7 | 
                                
                                    
                                    | DFNB7 |  Dfnb11 |  
                                    
                                    
                                    |  Deafness, Autosomal Recessive 11 |  Autosomal Recessive Nonsyndromic Deafness 7 |  
                                    
                                    
                                    |  Autosomal Recessive Deafness 7 |  Deafness, Autosomal Recessive, 7 |  
                                    
                                    
                                    |  Deafness Neurosensory Autosomal Recessive 11 |  Deafness Neurosensory Autosomal Recessive 7 |  
                                    
                                    
                                    |  Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 7 |  Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 7 |  
                                    
                                    
                                    |  Deafness, Autosomal Recessive, Type 7 |  | 
                                
                             | 
                    
                    
                        | Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct | 
                                
                                    
                                    | Enlarged Vestibular Aqueduct |  DFNB4 |  
                                    
                                    
                                    |  Neurosensory Nonsyndromic Recessive Deafness 4 |  Enlarged Vestibular Aqueduct Syndrome |  
                                    
                                    
                                    |  Nsrd4 |  Autosomal Recessive Nonsyndromic Deafness 4 |  
                                    
                                    
                                    |  Dilated Vestibular Aqueduct |  Dva |  
                                    
                                    
                                    |  Enlarged Vestibular Aqueduct, Digenic |  Autosomal Recessive Deafness 4 With Enlarged Vestibular Aqueduct |  
                                    
                                    
                                    |  Large Vestibular Aqueduct Syndrome |  Deafness, Autosomal Recessive, 4 |  
                                    
                                    
                                    |  Deafness Neurosensory Autosomal Recessive 4 |  Eva |  
                                    
                                    
                                    |  Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4 |  Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4 |  
                                    
                                    
                                    |  Deafness, Autosomal Recessive, Type 4  , With Enlarged Vestibular Aqueduct |  | 
                                
                             | 
                    
                    
                        | Deafness, Autosomal Dominant 25 | 
                                
                                    
                                    | DFNA25 |  Autosomal Dominant Nonsyndromic Deafness 25 |  
                                    
                                    
                                    |  Autosomal Dominant Deafness 25 |  Deafness, Autosomal Dominant, 25 |  
                                    
                                    
                                    |  Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 25 |  Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 25 |  
                                    
                                    
                                    |  Deafness, Autosomal Dominant, Type 25 |  | 
                                
                             | 
                    
                    
                        | Deafness, Autosomal Recessive 15 | 
                                
                                    
                                    | DFNB15 |  Dfnb72 |  
                                    
                                    
                                    |  Dfnb95 |  Deafness, Autosomal Recessive 72 |  
                                    
                                    
                                    |  Autosomal Recessive Nonsyndromic Deafness 15 |  Deafness, Autosomal Recessive 95 |  
                                    
                                    
                                    |  Autosomal Recessive Deafness 15 |  Autosomal Recessive Deafness 72 |  
                                    
                                    
                                    |  Autosomal Recessive Deafness 95 |  Deafness, Autosomal Recessive, 15 |  
                                    
                                    
                                    |  Deafness Autosomal Recessive 72 |  Deafness Autosomal Recessive 95 |  
                                    
                                    
                                    |  Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 15 |  Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 15 |  
                                    
                                    
                                    |  Deafness, Autosomal Recessive, Type 15 |  | 
                                
                             | 
                    
                    
                        | Y-Linked Deafness |  |  | 
                    
                    
                        | Deafness, Autosomal Recessive 17 | 
                                
                                    
                                    | DFNB17 |  Autosomal Recessive Nonsyndromic Deafness 17 |  
                                    
                                    
                                    |  Autosomal Recessive Deafness 17 |  | 
                                
                             | 
                    
                    
                        | Autosomal Recessive Nonsyndromic Deafness 36 | 
                                
                                    
                                    | Autosomal Recessive Deafness 36 |  Dfnb36 |  
                                    
                                    
                                    |  Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement |  Deafness, Autosomal Recessive 36 |  | 
                                
                             | 
                    
                    
                        | Usher Syndrome, Type If | 
                                
                                    
                                    | Usher Syndrome Type 1f |  USH1F |  
                                    
                                    
                                    |  Usher Syndrome, Type 1f |  Usher Syndrome Type If |  
                                    
                                    
                                    |  Usher Syndrome 1f |  Usher'S Syndrome Type 1f |  | 
                                
                             | 
                    
                    
                        | Deafness, Autosomal Dominant 9 | 
                                
                                    
                                    | DFNA9 |  Autosomal Dominant Nonsyndromic Deafness 9 |  
                                    
                                    
                                    |  Autosomal Dominant Deafness 9 |  Deafness, Autosomal Dominant, 9 |  
                                    
                                    
                                    |  Deafness, Autosomal Dominant, Type 9 |  | 
                                
                             | 
                    
                    
                        | Usher Syndrome, Type Iia | 
                                
                                    
                                    | Usher Syndrome Type 2a |  USH2A |  
                                    
                                    
                                    |  Usher Syndrome, Type 2a |  Usher Syndrome Type Iia |  
                                    
                                    
                                    |  Retinal Disease In Usher Syndrome Type Iia, Modifier Of |  Us2 |  
                                    
                                    
                                    |  Ush2 |  Usher Syndrome 2a |  
                                    
                                    
                                    |  Usher'S Syndrome Type 2a |  Ushiia |  | 
                                
                             | 
                    
                    
                        | Usher Syndrome, Type Id | 
                                
                                    
                                    | Usher Syndrome Type 1d |  USH1D |  
                                    
                                    
                                    |  Usher Syndrome, Type 1d |  Usher Syndrome Type Id |  
                                    
                                    
                                    |  Usher Syndrome, Type Id/F, Digenic |  Usher Syndrome, Type 1d/F Digenic |  
                                    
                                    
                                    |  Usher Syndrome 1d |  Usher'S Syndrome Type 1d |  
                                    
                                    
                                    |  Usher Syndrome 1d/F |  USH1DF |  
                                    
                                    
                                    |  Ush1d/F |  Usher'S Syndrome Type 1h |  
                                    
                                    
                                    |  Usher Syndrome 1h |  Usher Syndrome Type Ih |  
                                    
                                    
                                    |  Usher Syndrome, Type 1d/F |  | 
                                
                             | 
                    
                    
                        | Deafness, Autosomal Recessive 6 | 
                                
                                    
                                    | DFNB6 |  Neurosensory Nonsyndromic Recessive Deafness 6 |  
                                    
                                    
                                    |  Nsrd6 |  Autosomal Recessive Nonsyndromic Deafness 6 |  
                                    
                                    
                                    |  Autosomal Recessive Deafness 6 |  Deafness, Autosomal Recessive, 6 |  
                                    
                                    
                                    |  Deafness Neurosensory Autosomal Recessive 6 |  Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 6 |  
                                    
                                    
                                    |  Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 6 |  Deafness, Autosomal Recessive, Type 6 |  | 
                                
                             | 
                    
                    
                        | Deafness, Autosomal Dominant 36 | 
                                
                                    
                                    | DFNA36 |  Autosomal Dominant Nonsyndromic Deafness 36 |  
                                    
                                    
                                    |  Autosomal Dominant Deafness 36 |  Deafness, Autosomal Dominant, 36 |  
                                    
                                    
                                    |  Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 36 |  Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 36 |  
                                    
                                    
                                    |  Deafness, Autosomal Dominant, Type 36 |  | 
                                
                             | 
                    
                    
                        | Auditory System Disease | 
                                
                                    
                                    | Ear Diseases |  Ear And Mastoid Disease |  |  | 
                    
                    
                        | Deafness, Autosomal Recessive 25 | 
                                
                                    
                                    | DFNB25 |  Autosomal Recessive Nonsyndromic Deafness 25 |  
                                    
                                    
                                    |  Autosomal Recessive Deafness 25 |  Deafness, Autosomal Recessive, 25 |  
                                    
                                    
                                    |  Deafness, Autosomal Recessive, Type 25 |  | 
                                
                             | 
                    
                    
                        | Bardet-Biedl Syndrome | 
                                
                                    
                                    | Bbs |  Biedl-Bardet Syndrome |  |  | 
                    
                    
                        | Deafness, Autosomal Recessive 16 | 
                                
                                    
                                    | DFNB16 |  Autosomal Recessive Nonsyndromic Deafness 16 |  
                                    
                                    
                                    |  Autosomal Recessive Deafness 16 |  Deafness, Autosomal Recessive, 16 |  
                                    
                                    
                                    |  Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 16 |  Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 16 |  
                                    
                                    
                                    |  Deafness, Autosomal Recessive, Type 16 |  | 
                                
                             | 
                    
                    
                        | Deafness, Autosomal Dominant 65 | 
                                
                                    
                                    | DFNA65 |  Autosomal Dominant Nonsyndromic Deafness 65 |  
                                    
                                    
                                    |  Autosomal Dominant Deafness 65 |  Deafness, Autosomal Dominant, 65 |  
                                    
                                    
                                    |  Deafness, Autosomal Dominant, Type 65 |  | 
                                
                             | 
                    
                    
                        | Sensorineural Hearing Loss | 
                                
                                    
                                    | Sensory Hearing Loss |  Sensorineural Deafness |  
                                    
                                    
                                    |  Sensorineural Hearing Loss Disorder |  Hearing Loss, Sensorineural |  
                                    
                                    
                                    |  Central Hearing Loss |  High Frequency Deafness |  
                                    
                                    
                                    |  High Frequency Hearing Loss |  High-Frequency Hearing Loss |  
                                    
                                    
                                    |  Perceptive Deafness |  Perceptive Hearing Loss |  
                                    
                                    
                                    |  Perceptive Hearing Loss Or Deafness |  Hearing Loss Sensorineural |  
                                    
                                    
                                    |  Deafness Sensorineural |  Hearing Loss High-Frequency |  
                                    
                                    
                                    |  Hearing Loss, Central |  Hearing Loss, High-Frequency |  | 
                                
                             | 
                    
                    
                        | Deafness, Autosomal Recessive 86 | 
                                
                                    
                                    | DFNB86 |  Autosomal Recessive Nonsyndromic Deafness 86 |  
                                    
                                    
                                    |  Autosomal Recessive Deafness 86 |  Deafness, Autosomal Recessive, 86 |  
                                    
                                    
                                    |  Deafness, Nonsyndromic, Autosomal Recessive, Type 86 |  | 
                                
                             | 
                    
                    
                        | Hyperinsulinism |  |  | 
                    
                    
                        | Autosomal Dominant Nonsyndromic Deafness | 
                                
                                    
                                    | Autosomal Dominant Deafness |  |  | 
                    
                    
                        | Usher Syndrome, Type Iic | 
                                
                                    
                                    | Usher Syndrome Type 2c |  USH2C |  
                                    
                                    
                                    |  Usher Syndrome, Type 2c |  Usher Syndrome, Type Iic, Gpr98/Pdzd7 Digenic |  
                                    
                                    
                                    |  Usher Syndrome Type Iic |  Usher Syndrome, Type 2c, Gpr98/Pdzd7 Digenic |  
                                    
                                    
                                    |  Usher Syndrome 2c |  Usher'S Syndrome Type 2c |  
                                    
                                    
                                    |  Usher Syndrome Type Iic Gpr98/Pdzd7 Digenic |  | 
                                
                             | 
                    
                    
                        | Inner Ear Disease | 
                                
                                    
                                    | Labyrinthine Dysfunction |  Diseases Of Inner Ear |  
                                    
                                    
                                    |  Labyrinthine Disease |  Abnormality Of The Inner Ear |  
                                    
                                    
                                    |  Labyrinth Diseases |  Labyrinthine Disorder |  
                                    
                                    
                                    |  Nonfunctioning Labyrinth |  Labyrinthine Loss Of Function |  
                                    
                                    
                                    |  Labyrinthine Syndrome |  Labyrinthine Disorder Nos |  | 
                                
                             | 
                    
                    
                        | Pendred Syndrome | 
                                
                                    
                                    | Goiter-Deafness Syndrome |  Deafness With Goiter |  
                                    
                                    
                                    |  PDS |  Thyroid Dyshormonogenesis 2b |  
                                    
                                    
                                    |  Tdh2b |  Autosomal Recessive Sensorineural Hearing Impairment And Goiter |  
                                    
                                    
                                    |  Pendred'S Syndrome |  Thyroid Hormonogenesis, Genetic Defect In, 2b |  
                                    
                                    
                                    |  Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2b |  Congenital Hypothyroidism Due To Dyshormonogenesis 2b |  
                                    
                                    
                                    |  Genetic Defect In Thyroid Hormonogenesis 2b |  Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, And Goiter |  
                                    
                                    
                                    |  Goiter-Hearing Loss Syndrome |  Goitre-Deafness Syndrome |  
                                    
                                    
                                    |  Goitre Deafness |  | 
                                
                             | 
                    
                    
                        | Pallister-Hall Syndrome | 
                                
                                    
                                    | PHS |  Hypothalamic Hamartomas |  
                                    
                                    
                                    |  Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, And Postaxial Polydactyly |  Hypothalamic Hamartoblastoma Syndrome |  
                                    
                                    
                                    |  Hamartoma Of The Hypothalamus |  Pallister Hall Syndrome |  
                                    
                                    
                                    |  Hall-Pallister Syndrome |  Hypothalamic Hamartoblastoma Hypopituitarism Imperforate Anus And Postaxial Polydactyly |  
                                    
                                    
                                    |  Hamartoma, Hypothalamic |  | 
                                
                             | 
                    
                    
                        | Eye Degenerative Disease |  |  | 
                    
                    
                        | Late-Onset Retinal Degeneration | 
                                
                                    
                                    | LORD |  Retinal Degeneration, Late-Onset, Autosomal Dominant |  
                                    
                                    
                                    |  Autosomal Dominant Late-Onset Retinal Degeneration |  Pigmentary Retinopathy |  
                                    
                                    
                                    |  Retinal Degeneration, Late-Onset |  Retinitis Pigmentosa |  | 
                                
                             | 
                    
                    
                        | Stickler Syndrome | 
                                
                                    
                                    | Arthroophthalmopathy |  Hereditary Arthro-Ophthalmo-Dystrophy |  
                                    
                                    
                                    |  Hereditary Arthro-Ophthalmopathy |  Stickler Dysplasia |  
                                    
                                    
                                    |  Hereditary Progressive Arthroophthalmopathy |  Stickler Syndrome, Type 1 |  | 
                                
                             | 
                    
                    
                        | Leber Plus Disease | 
                                
                                    
                                    | Leber Congenital Amaurosis |  Lca |  
                                    
                                    
                                    |  Leber'S Amaurosis |  Leber'S Disease |  
                                    
                                    
                                    |  Amaurosis Congenita Of Leber |  Amaurosis Congenita Of Leber, Type 1 |  
                                    
                                    
                                    |  Lhon Plus Disease |  Congenital Absence Of The Rods And Cones |  
                                    
                                    
                                    |  Congenital Retinal Blindness |  Crb |  
                                    
                                    
                                    |  Congenital Amaurosis Of Retinal Origin |  Leber'S Congenital Amaurosis |  
                                    
                                    
                                    |  Leber Congenital Amaurosis 1 |  Leber'S Congenital Tapetoretinal Degeneration |  
                                    
                                    
                                    |  Leber'S Congenital Tapetoretinal Dysplasia |  Lca1 |  
                                    
                                    
                                    |  Leber Congenital Amaurosis Type 1 |  Retinal Blindness, Congenital |  
                                    
                                    
                                    |  Amaurosis, Leber Congenital |  Dysgenesis Neuroepithelialis Retinae |  
                                    
                                    
                                    |  Hereditary Epithelial Dysplasia Of Retina |  Hereditary Retinal Aplasia |  
                                    
                                    
                                    |  Heredoretinopathia Congenitalis |  Leber Abiotrophy |  
                                    
                                    
                                    |  Leber Congenital Tapetoretinal Degeneration |  Lebers Congenital Amaurosis |  
                                    
                                    
                                    |  Optic Atrophy, Hereditary, Leber |  | 
                                
                             | 
                    
                    
                        | Eye Disease | 
                                
                                    
                                    | Eye Diseases |  Abnormality Of The Eye |  
                                    
                                    
                                    |  Toxoplasma Oculopathy |  | 
                                
                             |