| Diseases |
Alias |
|
| Deafness, Autosomal Dominant 22 |
|
DFNA22
|
Deafness, Autosomal Dominant 22, With Hypertrophic Cardiomyopathy
|
|
Autosomal Dominant Nonsyndromic Deafness 22
|
Progressive Sensorineural Hearing Loss-Hypertrophic Cardiomyopathy Syndrome
|
|
Autosomal Dominant Deafness 22
|
Progressive Neurosensory Deafness-Hypertrophic Cardiomyopathy Syndrome
|
|
Progressive Neurosensory Hearing Loss-Hypertrophic Cardiomyopathy Syndrome
|
Progressive Sensorineural Deafness-Hypertrophic Cardiomyopathy Syndrome
|
|
DFNHCM
|
Deafness, Autosomal Dominant, 22
|
|
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 22
|
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 22
|
|
Deafness, Autosomal Dominant, Type 22
|
Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22
|
|
|
| Deafness, Autosomal Recessive 37 |
|
DFNB37
|
Autosomal Recessive Nonsyndromic Deafness 37
|
|
Autosomal Recessive Deafness 37
|
Deafness, Autosomal Recessive, 37
|
|
Congenital Neurosensory Deafness Autosomal Recessive 37
|
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 37
|
|
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 37
|
Deafness, Autosomal Recessive, Type 37
|
|
|
| Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna |
|
Autosomal Dominant Isolated Neurosensory Deafness Type Dfna
|
Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna
|
|
Autosomal Dominant Isolated Sensorineural Deafness Type Dfna
|
Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna
|
|
Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna
|
Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna
|
|
Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna
|
|
|
| Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22 |
|
|
| Rare Genetic Deafness |
|
Rare Genetic Hearing Loss
|
|
|
| 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
|
|
|
| Ear Malformation |
|
|
| Non-Syndromic Genetic Deafness |
|
Nonsyndromic Genetic Hearing Loss
|
Isolated Genetic Deafness
|
|
Isolated Genetic Hearing Loss
|
Non-Syndromic Genetic Hearing Loss
|
|
|
| Nonsyndromic Hearing Loss |
|
Nonsyndromic Deafness
|
Nonsyndromic Hearing Impairment
|
|
Nonsyndromic Hearing Loss And Deafness
|
Deafness, Nonsyndromic
|
|
Isolated Deafness
|
|
|
| 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 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
|
|
|
| Hypertrophic Cardiomyopathy |
|
Hypertrophic Obstructive Cardiomyopathy
|
Cardiomyopathy, Hypertrophic
|
|
Cardiomyopathy Hypertrophic Obstructive
|
Cardiomyopathy, Hypertrophic, Familial
|
|
Idiopathic Myocardial Hypertrophy
|
Idiopathic Hypertrophic Cardiomyopathy
|
|
Obstructive Idiopathic Hypertrophic Cardiomyopathy
|
Obstructive Cardiomyopathy
|
|
Idiopathic Hypertrophic Subaortic Stenosis
|
Muscular Subaortic Stenosis
|
|
Hypertrophic Obstructive Subaortic Stenosis
|
|
|
| Deafness, Autosomal Dominant 48 |
|
DFNA48
|
Autosomal Dominant Nonsyndromic Deafness 48
|
|
Autosomal Dominant Deafness 48
|
Deafness, Autosomal Dominant, 48
|
|
Deafness Autosomal Dominant Due To Mutation In Myo1a
|
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 48
|
|
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 48
|
Deafness, Autosomal Dominant, Type 48
|
|
|
| Deafness, Autosomal Dominant 15 |
|
DFNA15
|
Autosomal Dominant Nonsyndromic Deafness 15
|
|
Autosomal Dominant Deafness 15
|
Deafness, Autosomal Dominant, 15
|
|
Deafness, Autosomal Dominant, Type 15
|
|
|
| Cardiomyopathy, Familial Hypertrophic, 2 |
|
Hypertrophic Cardiomyopathy 2
|
CMH2
|
|
Cardiomyopathy, Hypertrophic, 2
|
Cardiomyopathy Familial Hypertrophic 2
|
|
Cardiomyopathy, Familial Hypertrophic 2
|
Cardiomyopathy, Hypertrophic, Familial, Type 2
|
|
|
| Deafness, Autosomal Dominant 17 |
|
DFNA17
|
Autosomal Dominant Nonsyndromic Deafness 17
|
|
Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17
|
Autosomal Dominant Deafness 17
|
|
Late-Onset Progressive Hereditary Hearing Impairment Due To Cochleosaccular Degeneration
|
Nonsyndromic Hereditary Deafness Dfna17
|
|
Deafness, Autosomal Dominant, 17
|
Cochleosaccular Degeneration
|
|
Deafness, Autosomal Dominant, Type 17
|
Cochleosaccular Degeneration Of The Inner Ear And Progressive Cataracts
|
|
|
| Developmental And Epileptic Encephalopathy 16 |
|
DEE16
|
Epileptic Encephalopathy, Early Infantile, 16
|
|
Eiee16
|
Developmental And Epileptic Encephalopathy, 16
|
|
Early Infantile Epileptic Encephalopathy 16
|
Progressive Myoclonic Epilepsy With Dystonia
|
|
Pmed
|
Progressive Myoclonus Epilepsy With Dystonia
|
|
Encephalopathy, Epileptic, Early Infantile, Type 16
|
|
|
| Autosomal Recessive Nonsyndromic Deafness 3 |
|
Autosomal Recessive Deafness 3, Neurosensory Nonsyndromic Recessive Deafness 3
|
Dfnb3
|
|
Nrsd3
|
Deafness, Autosomal Recessive 3
|
|
|
| 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 30 |
|
DFNB30
|
Autosomal Recessive Nonsyndromic Deafness 30
|
|
Autosomal Recessive Deafness 30
|
Deafness, Autosomal Recessive, 30
|
|
Deafness, Autosomal Recessive, Type 30
|
|
|
| Deafness, Autosomal Dominant 16 |
|
DFNA16
|
Autosomal Dominant Nonsyndromic Deafness 16
|
|
Autosomal Dominant Deafness 16
|
|
|
| Deafness, Autosomal Dominant 21 |
|
DFNA21
|
Autosomal Dominant Nonsyndromic Deafness 21
|
|
Autosomal Dominant Deafness 21
|
Deafness, Autosomal Dominant, 21
|
|
|
| Deafness, Autosomal Dominant 7 |
|
DFNA7
|
Autosomal Dominant Nonsyndromic Deafness 7
|
|
Autosomal Dominant Deafness 7
|
Deafness, Autosomal Dominant, 7
|
|
Deafness, Autosomal Dominant, Type 7
|
|
|
| Deafness, Autosomal Dominant 10 |
|
DFNA10
|
Autosomal Dominant Nonsyndromic Deafness 10
|
|
Autosomal Dominant Deafness 10
|
Deafness, Autosomal Dominant, 10
|
|
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 10
|
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 10
|
|
Deafness, Autosomal Dominant, Type 10
|
|
|
| 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
|
|
|
| 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 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
|
|
|
| Y-Linked Deafness |
|
|
| Autosomal Dominant Nonsyndromic Deafness |
|
Autosomal Dominant Deafness
|
|
|
| Deafness, Autosomal Dominant 28 |
|
DFNA28
|
Autosomal Dominant Nonsyndromic Deafness 28
|
|
Autosomal Dominant Deafness 28
|
Deafness, Autosomal Dominant, 28
|
|
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 28
|
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 28
|
|
Deafness, Autosomal Dominant, Type 28
|
|
|
| Deafness, Autosomal Recessive 102 |
|
DFNB102
|
Autosomal Recessive Nonsyndromic Deafness 102
|
|
Autosomal Recessive Deafness 102
|
Deafness, Autosomal Recessive, 102
|
|
Deafness, Autosomal Recessive, Type 102
|
|
|
| Deafness, Autosomal Recessive 110 |
|
DFNB110
|
Autosomal Recessive Nonsyndromic Deafness 110
|
|
Autosomal Recessive Deafness 110
|
Deafness, Autosomal Recessive, 110
|
|
|
| Auditory System Disease |
|
Ear Diseases
|
Ear And Mastoid Disease
|
|
|
| Deafness, Autosomal Dominant 9 |
|
DFNA9
|
Autosomal Dominant Nonsyndromic Deafness 9
|
|
Autosomal Dominant Deafness 9
|
Deafness, Autosomal Dominant, 9
|
|
Deafness, Autosomal Dominant, Type 9
|
|
|
| Autosomal Recessive Nonsyndromic Deafness |
|
Deafness, Autosomal Recessive, Nonsyndromic
|
|
|
| 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
|
|
|
| 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
|
|
|
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Erythrokeratodermia Variabilis
|
Erythrokeratodermia Variabilis Et Progressiva
|
|
Greither Disease
|
Ekv
|
|
Ekvp
|
PSEK
|
|
Erythrokeratodermia Variabilis With Erythema Gyratum Repens
|
Keratosis Palmoplantaris Transgrediens Et Progrediens
|
|
Transgrediens Et Progrediens Palmoplantar Keratoderma
|
EKVP1
|
|
Erythrokeratodermia, Progressive Symmetric
|
Erythrokeratodermia Figurata, Congenital Familial, In Plaques
|
|
Keratoderma Palmoplantaris Transgrediens
|
Keratosis Extremitatum Hereditaria Progrediens
|
|
Erythrokeratodermia Variabilis, Mendes Da Costa Type
|
Progressive Symmetric Erythrokeratodermia
|
|
Erythrokeratodermia Figurata Variabilis
|
Greither'S Disease
|
|
Ekv-P
|
Erythrokeratodermia Variabilis Of Mendes Da Costa
|
|
Progressive Symmetrical Erythrokeratoderma Of Gottron
|
Progressive Diffuse Ppk
|
|
Progressive Diffuse Palmoplantar Keratoderma
|
Transgrediens Et Progrediens Ppk
|
|
Darier-Gottron Disease
|
Erythrokeratodermia Progressiva Symmetrica
|
|
Progressive Symmetric Erythrokeratodermia, Gottron Type
|
Congenital Familial Erythrokeratodermia Figurata In Plaques
|
|
Erythrokeratodermia Progressive Symmetric
|
Erythrokeratodermia Variabilis Mendes Da Costa Type
|
|
|
| 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
|
|
|
