| Diseases |
Alias |
|
| 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
|
|
|
| Chromosome Xq21 Deletion Syndrome |
|
Choroideremia, Deafness, And Mental Retardation
|
Ayazi Syndrome
|
|
Xq21 Deletion Syndrome
|
Xq21 Microdeletion Syndrome
|
|
Del
|
Monosomy Xq21
|
|
|
| Deafness, Nonsyndromic Sensorineural, Mitochondrial |
|
Mitochondrial Non-Syndromic Sensorineural Hearing Loss
|
Mitochondrial Nonsyndromic Sensorineural Deafness
|
|
Mitochondrial Non-Syndromic Sensorineural Deafness
|
Isolated Mitochondrial Neurosensory Deafness
|
|
Isolated Mitochondrial Neurosensory Hearing Loss
|
Isolated Mitochondrial Sensorineural Deafness
|
|
Isolated Mitochondrial Sensorineural Hearing Loss
|
Mitochondrial Non-Syndromic Neurosensory Deafness
|
|
Mitochondrial Non-Syndromic Neurosensory Hearing Loss
|
Deafness, Sensorineural, Mitochondrial
|
|
DFNM
|
|
|
| Rare Genetic Deafness |
|
Rare Genetic Hearing Loss
|
|
|
| Hereditary Hearing Loss And Deafness |
|
|
| Superior Semicircular Canal Dehiscence |
|
Superior Canal Dehiscence Syndrome
|
Superior Semicircular Canal Dehiscence Syndrome
|
|
Canal Dehiscence Syndrome
|
Superior Canal Dehiscence
|
|
Superior Canal Syndrome
|
Third Mobile Window Syndrome
|
|
Scds
|
Anemia, Sickle Cell
|
|
|
| Deafness, X-Linked 4 |
|
DFNX4
|
Dfn6
|
|
Deafness, Nonsyndromic Sensorineural Progressive 6
|
X-Linked Deafness 4
|
|
Deafness, X-Linked 6, Progressive
|
Nonsyndromic Sensorineural Progressive Deafness 6
|
|
X-Linked Progressive Deafness 6
|
Deafness, X-Linked, 4
|
|
Deafness Nonsyndromic Sensorineural Progressive 6
|
Deafness X-Linked 6 Progressive
|
|
Deafness, X-Linked, Type 4
|
|
|
| X-Linked Nonsyndromic Deafness |
|
X-Linked Deafness
|
Deafness, X-Linked
|
|
|
| Deafness, X-Linked 3 |
|
DFNX3
|
Dfn4
|
|
X-Linked Deafness 3
|
Deafness, X-Linked 4, Congenital Sensorineural
|
|
Congenital Sensorineural X-Linked Deafness 4
|
|
|
| Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Deafness, X-Linked 5
|
DFNX5
|
|
Aunx1
|
Auditory Neuropathy, X-Linked, 1, With Peripheral Sensory Neuropathy
|
|
X-Linked Deafness 5
|
X-Linked Auditory Neuropathy With Peripheral Sensory Neuropathy Type 1
|
|
X-Linked Hsan With Deafness
|
X-Linked Auditory Neuropathy 1 With Peripheral Sensory Neuropathy
|
|
X-Linked Hereditary Sensory And Autonomic Neuropathy With Deafness
|
X-Linked Hsan With Hearing Loss
|
|
X-Linked Hereditary Sensory And Autonomic Neuropathy With Hearing Loss
|
Deafness, X-Linked, 5, With Peripheral Neuropathy
|
|
Deafness, X-Linked, Type 5
|
|
|
| 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, X-Linked 1 |
|
DFNX1
|
Dfn2
|
|
Deafness, X-Linked 2, Sensorineural Congenital
|
X-Linked Deafness 1
|
|
X-Linked Sensorineural Congenital Deafness 2
|
Deafness, X-Linked, 1
|
|
Congenital Sensorineural Deafness X-Linked 2
|
Deafness, X-Linked, Type 1
|
|
|
| Deafness, Autosomal Dominant 15 |
|
DFNA15
|
Autosomal Dominant Nonsyndromic Deafness 15
|
|
Autosomal Dominant Deafness 15
|
Deafness, Autosomal Dominant, 15
|
|
Deafness, Autosomal Dominant, Type 15
|
|
|
| Deafness And Myopia |
|
High Myopia-Sensorineural Deafness Syndrome
|
DFNMYP
|
|
Deafness And Myopia Syndrome
|
Deafness, Cochlear, Plus
|
|
High Myopia And Sensorineural Deafness
|
Myopia And Deafness
|
|
High Myopia-Sensorineural Hearing Loss Syndrome
|
|
|
| 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
|
|
|
| Partington Syndrome |
|
X-Linked Reticulate Pigmentary Disorder
|
PRTS
|
|
Partington X-Linked Mental Retardation Syndrome
|
Mrxs1
|
|
Mrx36
|
Intellectual Developmental Disorder, X-Linked, Syndromic 1
|
|
Partington Disease
|
Pdr
|
|
Partington-Mulley Syndrome
|
Russell-Silver Syndrome, X-Linked
|
|
Mental Retardation, X-Linked, Syndromic 1
|
Mental Retardation, X-Linked, With Dystonic Movements, Ataxia, And Seizures
|
|
Mental Retardation, X-Linked 36
|
X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations
|
|
X-Linked Russell-Silver Syndrome
|
Intelectual Disability-Dystonic Movements-Ataxia-Seizures Syndrome
|
|
Intellectual Disability, X-Linked, Syndromic 1
|
Intellectual Disability, X-Linked, With Dystonic Movements, Ataxia, And Seizures
|
|
Partington X-Linked Intellectual Disability Syndrome
|
X-Linked Intellectual Deficit-Dystonia-Dysarthria
|
|
X-Linked Mental Retardation With Dystonic Movements, Ataxia, And Seizures
|
Familial Cutaneous Amyloidosis
|
|
X-Linked Cutaneous Amyloidosis
|
Xlpdr
|
|
X-Linked Intellectual Disability-Dystonia-Dysarthria Syndrome
|
Pigmentary Disorder, Reticulate, With Systemic Manifestations
|
|
|
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
CMTX5
|
Rosenberg-Chutorian Syndrome
|
|
Charcot-Marie-Tooth Disease X-Linked Recessive 5
|
Optic Atrophy, Polyneuropathy, And Deafness
|
|
Charcot-Marie-Tooth Neuropathy X-Linked Recessive 5
|
Cmt5x
|
|
X-Linked Charcot-Marie-Tooth Disease Type 5
|
Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 5
|
|
Optic Atrophy Polyneuropathy Deafness
|
Optic Atrophy With Polyneuropathy And Deafness
|
|
Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5
|
|
|
| Deafness, Autosomal Dominant 21 |
|
DFNA21
|
Autosomal Dominant Nonsyndromic Deafness 21
|
|
Autosomal Dominant Deafness 21
|
Deafness, Autosomal Dominant, 21
|
|
|
| Deafness, Autosomal Recessive 49 |
|
DFNB49
|
Autosomal Recessive Nonsyndromic Deafness 49
|
|
Autosomal Recessive Deafness 49
|
Deafness, Autosomal Recessive, 49
|
|
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 49
|
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 49
|
|
Deafness, Autosomal Recessive, Type 49
|
|
|
| Deafness, X-Linked 7 |
|
X-Linked External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome
|
DFNX7
|
|
X-Linked Deafness 7
|
Deafness, X-Linked, 7
|
|
|
| Auditory System Disease |
|
Ear Diseases
|
Ear And Mastoid Disease
|
|
|
| Deafness, Autosomal Recessive 110 |
|
DFNB110
|
Autosomal Recessive Nonsyndromic Deafness 110
|
|
Autosomal Recessive Deafness 110
|
Deafness, Autosomal Recessive, 110
|
|
|
| Arts Syndrome |
|
ARTS
|
Mrxsarts
|
|
Ataxia, Fatal X-Linked, With Deafness And Loss Of Vision
|
Mrxs18
|
|
Lethal Ataxia With Deafness And Optic Atrophy
|
Fatal X-Linked Ataxia With Deafness And Loss Of Vision
|
|
Mental Retardation, X-Linked, Syndromic, Arts Type
|
Mental Retardation, X-Linked, Syndromic 18
|
|
Syndromic X-Linked Mental Retardation 18
|
Syndromic X-Linked Mental Retardation Arts Type
|
|
Lethal Ataxia-Deafness-Optic Atrophy
|
X-Linked Fatal Ataxia With Deafness And Loss Of Vision
|
|
Ataxia-Deafness-Optic Atrophy, Lethal
|
Lethal Ataxia With Hearing Loss And Optic Atrophy
|
|
Art
|
|
|
| Vestibular Disease |
|
Vestibular Diseases
|
Vertigo, Vestibular Disorder
|
|
Vestibular Disorder
|
Diseases Of Inner Ear
|
|
|
| Mohr-Tranebjaerg Syndrome |
|
Deafness-Dystonia-Optic Neuronopathy Syndrome
|
Jensen Syndrome
|
|
Deafness Dystonia Syndrome
|
MTS
|
|
Dds
|
Deafness-Dystonia-Optic Atrophy Syndrome
|
|
Deafness Syndrome, Progressive, With Blindness, Dystonia, Fractures, And Mental Deficiency
|
Opticoacoustic Nerve Atrophy With Dementia
|
|
Dystonia-Deafness Syndrome
|
Ddp
|
|
Ddon Syndrome
|
Mohr-Tranebjærg Syndrome
|
|
Deafness Dystonia Optic Atrophy Syndrome
|
Deafness Dystonia Optic Neuronopathy Syndrome
|
|
Dystonia Deafness Syndrome
|
Ddon
|
|
Deafness - Dystonia - Optic Neuronopathy Syndrome
|
Deafness-Dystonia-Optic Neuronopathy Syndrome
|
|
Hearing Loss-Dystonia-Optic Neuronopathy Syndrome
|
Dfn-1
|
|
X-Linked Progressive Deafness Type 1
|
|
|
| Norrie Disease |
|
Atrophia Bulborum Hereditaria
|
Episkopi Blindness
|
|
Pseudoglioma
|
ND
|
|
Norrie-Warburg Disease
|
Anderson-Warburg Syndrome
|
|
Fetal Iritis Syndrome
|
Norrie Syndrome
|
|
Norrie-Warburg Syndrome
|
Ndp
|
|
Congenital Progressive Oculo-Acoustico-Cerebral Degeneration
|
Norrie'S Disease
|
|
Oligophrenia Microphthalmus
|
Pseudoglioma Congenita
|
|
Whitnall-Norman Syndrome
|
|
|
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Star Syndrome
|
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
|
|
Syndactyly With Renal And Anogenital Malformations
|
STAR
|
|
Syndactyly, Telecanthus, Anogenital And Renal Malformations
|
Toe Syndactyly, Telecanthus, Anogenital And Renal Malformations
|
|
|
| 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
|
|
|
| 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
|
|
|
| Waardenburg Syndrome, Type 1 |
|
Waardenburg Syndrome Type 1
|
WS1
|
|
Waardenburg Syndrome Type I
|
Waardenburg Syndrome With Dystopia Canthorum
|
|
Waardenburg'S Syndrome Type 1
|
Waardenburg Syndrome 1
|
|
Waardenburg Syndrome, Type I
|
Waardenburg Syndrome
|
|
|
| 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
|
|
|
| Branchiootorenal Syndrome |
|
Branchio-Oto-Renal Syndrome
|
Bor Syndrome
|
|
Branchiootorenal Dysplasia
|
Melnick-Fraser Syndrome
|
|
Branchiootorenal Spectrum Disorders
|
Branchio-Otorenal Dysplasia
|
|
Branchio Oto Renal Syndrome
|
Branchiootorenal/Branchiootic Syndrome
|
|
Bo Syndrome
|
Bor
|
|
Bos
|
Branchio-Otorenal Syndrome
|
|
Branchiootic Syndrome
|
Branchiootorenal Syndrome
|
|
Branchiootic Syndrome 1
|
|
|
| Autosomal Dominant Nonsyndromic Deafness |
|
Autosomal Dominant Deafness
|
|
|
| Otosclerosis |
|
|
| Autosomal Recessive Nonsyndromic Deafness |
|
Deafness, Autosomal Recessive, Nonsyndromic
|
|
|
| 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
|
|
|
| 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
|
|
|
