| Diseases |
Alias |
|
| 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-Infertility Syndrome |
|
DIS
|
Chromosome 15q15.3 Deletion Syndrome
|
|
Deafness, Sensorineural, And Male Infertility
|
Sensorineural Deafness And Male Infertility
|
|
Deafness And Male Infertility
|
Hearing Loss-Infertility Syndrome
|
|
|
| Deafness, Autosomal Dominant 16 |
|
DFNA16
|
Autosomal Dominant Nonsyndromic Deafness 16
|
|
Autosomal Dominant Deafness 16
|
|
|
| Spermatogenic Failure 7 |
|
SPGF7
|
Male Infertility, Nonsyndromic, Autosomal Recessive
|
|
Miar
|
Male Infertility Non-Syndromic Autosomal Recessive
|
|
|
| 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
|
|
|
| Catsper-Related Male Infertility |
|
|
| Deafness, Autosomal Recessive 84b |
|
DFNB84B
|
Autosomal Recessive Nonsyndromic Deafness 84b
|
|
Autosomal Recessive Deafness 84b
|
Deafness, Autosomal Recessive, 84b
|
|
Deafness, Autosomal Recessive, Type 84b
|
|
|
| Y-Linked 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 18b |
|
DFNB18B
|
Autosomal Recessive Nonsyndromic Deafness 18b
|
|
Autosomal Recessive Deafness 18b
|
Deafness, Autosomal Recessive, 18b
|
|
Deafness, Autosomal Recessive, Type 18b
|
|
|
| Basilicata-Akhtar Syndrome |
|
Mrxs36
|
MRXSBA
|
|
Mental Retardation, X-Linked, Syndromic, Basilicata-Akhtar Type
|
Mental Retardation, X-Linked, Syndromic 36
|
|
X-Linked Syndromic Mental Retardation 36
|
X-Linked Syndromic Mental Retardation Basilicata-Akhtar Type
|
|
|
| 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
|
|
|
| Streptococcal Meningitis |
|
|
| Deafness, Autosomal Recessive 99 |
|
DFNB99
|
Autosomal Recessive Nonsyndromic Deafness 99
|
|
Autosomal Recessive Deafness 99
|
Deafness, Autosomal Recessive, 99
|
|
|
| Charcot-Marie-Tooth Disease Type 5 |
|
Hereditary Motor And Sensory Neuropathy With Pyramidal Features
|
|
|
| Infertility |
|
|
| 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 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 66 |
|
DFNB66
|
Autosomal Recessive Nonsyndromic Deafness 66
|
|
Autosomal Recessive Deafness 66
|
Deafness, Autosomal Recessive, 66
|
|
Deafness, Autosomal Recessive, Type 66
|
|
|
| Auditory System Disease |
|
Ear Diseases
|
Ear And Mastoid Disease
|
|
|
| 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
|
|
|
| Deafness, Autosomal Recessive 39 |
|
DFNB39
|
Autosomal Recessive Nonsyndromic Deafness 39
|
|
Autosomal Recessive Deafness 39
|
Deafness, Autosomal Recessive, 39
|
|
Congenital Neurosensory Deafness Autosomal Recessive 39
|
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 39
|
|
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 39
|
Deafness, Autosomal Recessive, Type 39
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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 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
|
|
|
| Vestibular Disease |
|
Vestibular Diseases
|
Vertigo, Vestibular Disorder
|
|
Vestibular Disorder
|
Diseases Of Inner Ear
|
|
|
| Usher Syndrome Type 2 |
|
Ush2
|
Usher Syndrome Type Ii
|
|
|
| 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
|
|
|
| X-Linked Nonsyndromic Deafness |
|
X-Linked Deafness
|
Deafness, X-Linked
|
|
|
| Autosomal Recessive Nonsyndromic Deafness |
|
Deafness, Autosomal Recessive, Nonsyndromic
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Autosomal Dominant Nonsyndromic Deafness |
|
Autosomal Dominant Deafness
|
|
|
| Stickler Syndrome |
|
Arthroophthalmopathy
|
Hereditary Arthro-Ophthalmo-Dystrophy
|
|
Hereditary Arthro-Ophthalmopathy
|
Stickler Dysplasia
|
|
Hereditary Progressive Arthroophthalmopathy
|
Stickler Syndrome, Type 1
|
|
|
| Noonan Syndrome 1 |
|
Noonan Syndrome
|
NS1
|
|
Male Turner Syndrome
|
Female Pseudo-Turner Syndrome
|
|
Turner Phenotype With Normal Karyotype
|
Noonan Syndrome With Pigmented Villonodular Synovitis
|
|
Turner'S Phenotype, Karyotype Normal
|
Familial Turner Syndrome
|
|
Noonan'S Syndrome
|
Noonan-Ehmke Syndrome
|
|
Ns
|
Pseudo-Ullrich-Turner Syndrome
|
|
Turner Syndrome In Female With X Chromosome
|
Turner-Like Syndrome
|
|
Ullrich-Noonan Syndrome
|
Noonan-Like/Multiple Giant Cell Lesion Syndrome
|
|
Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions
|
Pterygium Colli Syndrome
|
|
Noonan Syndrome, Type 1
|
Turner Syndrome, Male
|
|
|
| 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
|
|
|
