Diseases |
Alias |
|
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
|
|
|
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
|
|
|
Ear Malformation |
|
|
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
|
|
|
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
|
|
|
Autosomal Recessive Nonsyndromic Deafness |
Deafness, Autosomal Recessive, Nonsyndromic
|
|
|
Toxic Labyrinthitis |
|
|
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
|
|
|
Y-Linked Deafness |
|
|
Deafness, Autosomal Recessive |
|
|
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 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
|
|
|
Autosomal Recessive Nonsyndromic Deafness 3 |
Autosomal Recessive Deafness 3, Neurosensory Nonsyndromic Recessive Deafness 3
|
Dfnb3
|
Nrsd3
|
Deafness, Autosomal Recessive 3
|
|
|
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 9 |
Auditory Neuropathy, Autosomal Recessive, 1
|
Neurosensory Nonsyndromic Recessive Deafness 9
|
DFNB9
|
Nsrd9
|
Autosomal Recessive Nonsyndromic Deafness 9
|
Autosomal Recessive Deafness 9
|
Nrsd9
|
AUNB1
|
Nonsyndromic Auditory Neuropathy Autosomal Recessive
|
Nsran
|
Deafness, Autosomal Recessive, 9
|
Deafness Neurosensory Autosomal Recessive 9
|
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 9
|
Non-Syndromic Recessive Hearing Loss 9
|
Deafness, Autosomal Recessive, Type 9
|
Auditory Neuropathy, Nonsyndromic Recessive
|
|
|
Deafness, Autosomal Recessive 76 |
DFNB76
|
Autosomal Recessive Nonsyndromic Deafness 76
|
Autosomal Recessive Deafness 76
|
Deafness, Autosomal Recessive, 76
|
Deafness, Autosomal Recessive, Type 76
|
|
|
Deafness, Autosomal Recessive 67 |
DFNB67
|
Autosomal Recessive Nonsyndromic Deafness 67
|
Autosomal Recessive Deafness 67
|
Deafness, Autosomal Recessive, 67
|
Deafness, Autosomal Recessive, Type 67
|
|
|
Deafness, Autosomal Recessive 63 |
DFNB63
|
Autosomal Recessive Nonsyndromic Deafness 63
|
Autosomal Recessive Deafness 63
|
Deafness, Autosomal Recessive, 63
|
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 63
|
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 63
|
Deafness, Autosomal Recessive, Type 63
|
|
|
Deafness, Autosomal Recessive 21 |
DFNB21
|
Autosomal Recessive Nonsyndromic Deafness 21
|
Autosomal Recessive Deafness 21
|
Deafness, Autosomal Recessive, 21
|
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 21
|
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 21
|
Deafness, Autosomal Recessive, Type 21
|
|
|
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 103 |
DFNB103
|
Autosomal Recessive Nonsyndromic Deafness 103
|
Autosomal Recessive Deafness 103
|
Deafness, Autosomal Recessive, 103
|
Deafness, Autosomal Recessive, Type 103
|
|
|
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
|
|
|
Cochlear Disease |
|
|
Ellis-Van Creveld Syndrome |
Chondroectodermal Dysplasia
|
Mesoectodermal Dysplasia
|
EVC
|
Ellis Van Creveld Syndrome
|
Mesodermic Dysplasia
|
Ellis-Van Creveld Dysplasia
|
|
|
Auditory System Disease |
Ear Diseases
|
Ear And Mastoid Disease
|
|
|
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
|
|
|
Autosomal Dominant Nonsyndromic Deafness |
Autosomal Dominant Deafness
|
|
|
Deafness, Autosomal Recessive 27 |
DFNB27
|
Autosomal Recessive Nonsyndromic Deafness 27
|
Autosomal Recessive Deafness 27
|
|
|
Deafness, Autosomal Recessive 1a |
DFNB1A
|
Deafness, Digenic, Gjb2/Gjb3
|
Autosomal Recessive Nonsyndromic Deafness 1a
|
Deafness, Digenic, Gjb2/Gjb6
|
Deafness, Digenic Gjb2/Gjb6
|
Autosomal Recessive Deafness 1a
|
Deafness, Autosomal Recessive, 1a
|
Deafness Digenic Gjb2/Gjb3
|
Deafness Digenic Gjb2/Gjb6
|
Deafness Neurosensory Autosomal Recessive 1
|
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1
|
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1
|
Nsrd1
|
Deafness, Autosomal Recessive, Type 1a
|
|
|
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 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 Recessive 86 |
DFNB86
|
Autosomal Recessive Nonsyndromic Deafness 86
|
Autosomal Recessive Deafness 86
|
Deafness, Autosomal Recessive, 86
|
Deafness, Nonsyndromic, Autosomal Recessive, Type 86
|
|
|
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 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 1b |
DFNB1B
|
Autosomal Recessive Nonsyndromic Deafness 1b
|
Autosomal Recessive Deafness 1b
|
Deafness, Autosomal Recessive, 1b
|
Deafness Digenic Gjb2/Gjb6
|
Deafness Neurosensory Autosomal Recessive 1
|
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1
|
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1
|
Nsrd1
|
Deafness, Autosomal Recessive, Type 1b
|
|
|
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
|
|
|
Myopathy, Centronuclear, 2 |
Myopathy, Centronuclear, Autosomal Recessive
|
Autosomal Recessive Centronuclear Myopathy
|
CNM2
|
Centronuclear Myopathy 2
|
Ar-Cnm
|
Myotubular Myopathy, Autosomal Recessive
|
Autosomal Recessive Myotubular Myopathy
|
Centronuclear Myopathy Autosomal Recessive
|
Myopathy, Centronuclear, Type 2
|
|
|
Deafness, Autosomal Dominant 7 |
DFNA7
|
Autosomal Dominant Nonsyndromic Deafness 7
|
Autosomal Dominant Deafness 7
|
Deafness, Autosomal Dominant, 7
|
Deafness, Autosomal Dominant, Type 7
|
|
|
Epidermodysplasia Verruciformis 1 |
Epidermodysplasia Verruciformis
|
Epidermodysplasia Verruciformis, Susceptibility To, 1
|
Lutz-Lewandowsky Epidermodysplasia Verruciformis
|
EV1
|
Lewandowsky-Lutz Syndrome
|
Ev
|
|
|
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
|
|
|
Vestibular Disease |
Vestibular Diseases
|
Vertigo, Vestibular Disorder
|
Vestibular Disorder
|
Diseases Of Inner Ear
|
|
|
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
|
|
|
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
|
|
|
X-Linked Nonsyndromic Deafness |
X-Linked Deafness
|
Deafness, X-Linked
|
|
|
Deafness, X-Linked 2 |
Progressive Deafness With Stapes Fixation
|
DFNX2
|
Dfn3
|
Nance Deafness
|
Perilymphatic Gusher-Deafness Syndrome
|
Stapedo-Vestibular Ankylosis
|
Sensorineural Deafness, Profound, With Or Without A Conductive Component, Associated With A Unique Developmental Abnormality Of The Ear
|
X-Linked Deafness 2
|
X-Linked Mixed Conductive And Neurosensory Deafness
|
X-Linked Mixed Conductive And Sensorineural Deafness
|
Deafness 3 Conductive With Stapes Fixation
|
Deafness Conductive With Stapes Fixation
|
Deafness Mixed With Perilymphatic Gusher
|
Thies-Reis Syndrome
|
Deafness, Conductive, With Stapes Fixation
|
Deafness 3, Conductive, With Stapes Fixation
|
Deafness, Mixed, With Perilymphatic Gusher
|
Conductive Deafness 3 With Stapes Fixation
|
Conductive Deafness With Stapes Fixation
|
Mixed Deafness With Perilymphatic Gusher
|
X-Linked Deafness Type 2
|
X-Linked Mixed Conductive And Neurosensory Hearing Loss
|
X-Linked Mixed Conductive And Sensorineural Hearing Loss
|
X-Linked Sensorineural Deafness
|
X-Linked Stapes Gusher Syndrome
|
Deafness Mixed With Perilymphatic Gusher, X-Linked
|
Dfn 3 Nonsyndromic Hearing Loss And Deafness
|
Gusher Syndrome
|
Thies Reis Syndrome
|
Progressive Hearing Loss With Stapes Fixation
|
Deafness, X-Linked, 2
|
Deafness Mixed With Perilymph Gusher X-Linked
|
Deafness, X-Linked, Type 2
|
Progressive Hearing Loss Stapes Fixation
|
|
|
Usher Syndrome Type 2 |
Ush2
|
Usher Syndrome Type Ii
|
|
|
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
|
|
|
Otosclerosis |
|
|
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
|
|
|
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
|
|
|
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
|
|
|