Diseases |
Alias |
|
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
|
|
|
Retinitis Pigmentosa 39 |
RP39
|
Retinitis Pigmentosa, Type 39
|
|
|
Usher Syndrome Type 2 |
Ush2
|
Usher Syndrome Type Ii
|
|
|
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
|
|
|
Chronic Pain |
|
|
Dysautonomia |
|
|
Retinal Degeneration |
|
|
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
|
|
|
Anxiety |
Anxiety Disorder
|
Anxiety Disorders
|
Anxiety State
|
Anxieties
|
Anxiety Neurosis
|
|
|
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
|
|
|
Ear Malformation |
|
|
Congenital Stationary Night Blindness |
Night Blindness, Congenital Stationary
|
Congenital Essential Nyctalopia
|
Oguchi Disease
|
Blindness, Night, Stationary, Congenital
|
|
|
Fundus Dystrophy |
Retinal Dystrophy
|
Retinal Dystrophies
|
Dystrophy, Retinal
|
|
|
Distal Arthrogryposis |
Arthrogryposis Multiplex Congenita
|
Arthrogryposis
|
Congenital Multiple Arthrogryposis
|
Congenital Arthromyodysplasia
|
Fibrous Ankylosis Of Multiple Joints
|
Guerin-Stern Syndrome
|
Guérin-Stern Syndrome
|
Myodystrophia Fetalis Deformans
|
Otto Syndrome
|
Rocher-Sheldon Syndrome
|
Rossi Syndrome
|
Amc
|
Multiple Congenital Arthrogryposis
|
Arthrogryposis Syndrome
|
Arthrogryposis, Distal
|
Distal Arthrogryposis Syndrome
|
Freeman-Sheldon Syndrome
|
Arthrogryposis, Distal, Type 2b
|
Congenital Multiplex Arthrogryposis
|
Amyoplasia Congenita
|
Congenital Amyoplasia
|
Amc - [Arthrogryposis Multiplex Congenita]
|
|
|
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
|
|
|
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
|
|
|
Rare Genetic Deafness |
Rare Genetic Hearing Loss
|
|
|
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
|
|
|
Retinitis |
|
|
Autosomal Recessive Nonsyndromic Deafness |
Deafness, Autosomal Recessive, Nonsyndromic
|
|
|
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
|
|
|
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
|
|
|
Usher Syndrome, Type Iid |
Usher Syndrome Type 2d
|
USH2D
|
Usher Syndrome, Type 2d
|
Usher Syndrome Type Iid
|
Usher Syndrome 2d
|
Usher Syndrome, Type Ii
|
|
|
Retinitis Pigmentosa 38 |
RP38
|
Rod-Cone Dystrophy, Childhood-Onset
|
Retinitis Pigmentosa, Type 38
|
|
|
Retinoschisis 1, X-Linked, Juvenile |
Retinoschisis
|
X-Linked Retinoschisis
|
X-Linked Juvenile Retinoschisis
|
RS1
|
XLRS1
|
X-Linked Juvenile Retinoschisis 1
|
Xlrs
|
Retinoschisis, X-Linked
|
Rs
|
Congenital X-Linked Retinoschisis
|
Degenerative Retinoschisis
|
Juvenile Retinoschisis
|
Xjr
|
Retinoschisis Juvenile X-Linked 1
|
Retinoschisis, Juvenile, X-Linked
|
Retinoschisis, Degenerative
|
|
|
Retinitis Pigmentosa 25 |
RP25
|
Retinitis Pigmentosa-25
|
Retinitis Pigmentosa, Type 25
|
|
|
Deafness, Autosomal Recessive 31 |
DFNB31
|
Whirler, Mouse, Homolog Of
|
Autosomal Recessive Nonsyndromic Deafness 31
|
Autosomal Recessive Deafness 31
|
Deafness, Autosomal Recessive, 31
|
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 31
|
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 31
|
Deafness, Autosomal Recessive, Type 31
|
|
|
Deafness, Autosomal Dominant 56 |
DFNA56
|
Autosomal Dominant Nonsyndromic Deafness 56
|
Autosomal Dominant Deafness 56
|
Deafness, Autosomal Dominant, 56
|
Deafness, Autosomal Dominant, Type 56
|
|
|
Leber Congenital Amaurosis With Early-Onset Deafness |
|
|
Bardet-Biedl Syndrome |
Bbs
|
Biedl-Bardet Syndrome
|
|
|
Choroid Disease |
Choroid Diseases
|
Abnormality Of The Choroid
|
|
|
Retinitis Pigmentosa 86 |
RP86
|
Retinitis Pigmentosa, Type 86
|
|
|
Eye Degenerative Disease |
|
|
Retinitis Pigmentosa 77 |
RP77
|
Retinitis Pigmentosa, Type 77
|
|
|
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
|
|
|
Macular Dystrophy, Dominant Cystoid |
Cystoid Macular Edema
|
DCMD
|
Cystoid Macular Dystrophy
|
Macular Edema, Cystoid
|
Autosomal Dominant Cystoid Macular Edema
|
Cymd
|
Mddc
|
Familial Macular Edema
|
Macular Edema
|
Macular Retinal Edema
|
|
|
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
|
|
|
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
|
|
|
Hereditary Retinal Dystrophy |
Hereditary Retinal Dystrophies
|
|
|
Stargardt Disease |
Stargardt Disease 1
|
Stargardt Macular Dystrophy
|
Stargardt Disease-1
|
Juvenile Onset Macular Degeneration
|
Stargardt Macular Degeneration
|
Juvenile Macular Degeneration
|
Macular Dystrophy With Flecks, Type 1
|
Stgd
|
Fundus Flavimaculatus
|
Stargardt 1
|
Stargardts Disease
|
|
|
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
|
|
|
Choroidal Dystrophy, Central Areolar, 1 |
Choroidal Sclerosis
|
Choroidal Dystrophy
|
Choroidal Dystrophy, Central Areolar
|
Cacd
|
Central Areolar Choroidal Dystrophy
|
CACD1
|
Choroidal Dystrophy, Central Areolar 1
|
Choroidal Dystrophy Central Areolar
|
Central Areolar Choroidal Sclerosis
|
Choroidal Degenerations
|
Areolar Atrophy Of The Macula
|
Partial Central Choroid Dystrophy
|
Degenerative Choroidopathy
|
Chorioretinal Degeneration
|
Hereditary Chorioretinal Degeneration
|
Hereditary Degeneration Of Choroid
|
Hereditary Choroidal Dystrophies
|
Generalised Choroidal Dystrophy
|
Hereditary Choroidopathy
|
|
|
Auditory System Disease |
Ear Diseases
|
Ear And Mastoid Disease
|
|
|
Scotoma |
Enlarged Blind Spot
|
Scotoma Of Blind Spot Area
|
Blind Spot Area Scotoma
|
Enlarged Angioscotoma
|
Enlarged Paracaecal Scotoma
|
Generalized Visual Field Contraction Or Constriction
|
Sector Or Arcuate Visual Field Defects
|
|
|
Leber Congenital Amaurosis 10 |
LCA10
|
Leber Congenital Amaurosis, Type 10
|
|
|
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
|
|
|
Choroideremia |
CHM
|
Tcd
|
Progressive Tapetochoroidal Dystrophy
|
Choroidal Sclerosis
|
Tapetochoroidal Dystrophy, Progressive
|
Progressive Choroidal Atrophy
|
Tapetochoroidal Dystrophy
|
|
|
Macular Degeneration, Age-Related, 1 |
Macular Degeneration
|
Age-Related Macular Degeneration
|
Macular Degeneration, Age-Related
|
Age Related Macular Degeneration
|
Age Related Macular Degeneration 1
|
ARMD1
|
Senile Macular Degeneration
|
Maculopathy, Age-Related, 1
|
Macular Degeneration, Age-Related, Reduced Risk Of
|
Age Related Maculopathy 1
|
Age Related Maculopathies
|
Age Related Maculopathy
|
Senile Macular Retinal Degeneration
|
Macular Degeneration Of Retina
|
Age-Related Maculopathy
|
Amd
|
Armd
|
Age-Related Maculopathy, Susceptibility To
|
Maculopathy Age-Related
|
Macular Degeneration, Age-Related, 1, Susceptibility To
|
Maculopathy, Age-Related
|
Macular Degeneration, Age-Related, Type 1
|
Macular Degeneration, Age-Related, 2
|
|
|
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
|
|
|
Vitelliform Macular Dystrophy |
Best Disease
|
Juvenile-Onset Vitelliform Macular Dystrophy
|
Macular Dystrophy, Vitelliform
|
Best Macular Dystrophy
|
Vitelliform Dystrophy
|
|
|
Gyrate Atrophy Of Choroid And Retina |
Gyrate Atrophy
|
Ornithine Aminotransferase Deficiency
|
HOGA
|
Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina
|
Oat Deficiency
|
Okt Deficiency
|
Hyperornithinemia
|
Ornithine Keto Acid Aminotransferase Deficiency
|
Ornithine-Delta-Aminotransferase Deficiency
|
Gyrate Atrophy Of The Choroid And Retina
|
GACR
|
Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia
|
Gyrate Atrophy Of The Retina
|
Ornithinemia With Gyrate Atrophy
|
Ornithinemia
|
Fuchs Atrophia Gyrata Chorioideae Et Retinae
|
Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome
|
Gyrate Atrophy Of The Choroid And/Or Retina
|
Girate Atrophy Of The Retina
|
Ornithine Ketoacid Aminotransferase Deficiency
|
Atrophy, Gyrate, Of Choroid And Retina
|
|
|
Bietti Crystalline Corneoretinal Dystrophy |
BCD
|
Bietti Crystalline Dystrophy
|
Bietti Tapetoretinal Degeneration With Marginal Corneal Dystrophy
|
Bietti Crystalline Retinopathy
|
Bietti'S Crystalline Dystrophy
|
Crystalline Retinopathy
|
Dystrophy, Corneoretinal, Crystalline, Bietti
|
|
|
Macular Retinal Edema |
Macular Edema
|
Macular Oedema
|
Macular Retinal Oedema
|
Macular Edema, Cystoid
|
|
|
Achromatopsia |
Achm
|
Rod Monochromatism
|
Total Color Blindness
|
Rod Monochromacy
|
Monochromatism
|
Achromatism
|
Complete Or Incomplete Color Blindness
|
Pingelapese Blindness
|
Achromatopsia 1
|
Achromatopsia 2
|
Achromatopsia 3
|
|
|
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
|
|
|
Night Blindness |
|
|
Color Blindness |
Color Vision Defect
|
Blindness Color
|
Colour Blindness
|
Colour Vision Deficiency
|
Color Vision Deficiency
|
Color Vision Defects
|
Defective Color Vision
|
Vision Defect, Color
|
Color-Vision Disease
|
Dyschromatopsia
|
|
|
Cone Dystrophy |
Retinal Cone Dystrophy
|
Dystrophy, Cone
|
Cone Dystrophy 3
|
|
|
Fundus Albipunctatus |
Retinitis Punctata Albescens
|
Pigmentary Retinal Dystrophy
|
RPA
|
Albipunctate Retinal Dystrophy
|
Lauber'S Disease
|
FALBI
|
Fa
|
|
|
Senior-Loken Syndrome 1 |
Senior-Loken Syndrome
|
Renal Dysplasia And Retinal Aplasia
|
Renal-Retinal Syndrome
|
Loken-Senior Syndrome
|
Juvenile Nephronophthisis With Leber Amaurosis
|
SLSN1
|
Senior-Loken Syndrome-1
|
Loken Senior Syndrome
|
Senior Loken Syndrome
|
Renal Dysplasia Retinal Aplasia
|
Nephronophthisis With Retinal Dystrophy
|
Renal Dysplasia-Retinal Aplasia Syndrome
|
Slsn
|
|
|
Exudative Vitreoretinopathy |
Familial Exudative Vitreoretinopathy
|
Fevr
|
Criswick-Schepens Syndrome
|
Exudative Vitreoretinopathy, Familial
|
Vitreoretinopathy, Exudative )
|
Exudative Vitreoretinopathy 1
|
|
|
Retinal Disease |
Retinal Diseases
|
Retinal Disorder
|
Retinal Disorders
|
|
|
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
|
|
|
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
|
|
|
Eye Disease |
Eye Diseases
|
Abnormality Of The Eye
|
Toxoplasma Oculopathy
|
|
|
Joubert Syndrome 1 |
Joubert Syndrome
|
Jbts
|
Cerebellooculorenal Syndrome 1
|
JBTS1
|
Joubert-Boltshauser Syndrome
|
Cerebelloparenchymal Disorder Iv
|
Cpd4
|
Cors1
|
Joubert Syndrome And Related Disorders
|
Jsrd
|
Familial Aplasia Of The Vermis
|
Joubert Syndrome Related Disorders
|
Js
|
Cerebellar Vermis Agenesis
|
Cerebelloparenchymal Disorder 4
|
Agenesis Of Cerebellar Vermis
|
Cerebello-Oculo-Renal Syndrome
|
Cors
|
Joubert-Bolthauser Syndrome
|
Cpd Iv
|
Classic Joubert Syndrome
|
Joubert Syndrome Type A
|
Pure Joubert Syndrome
|
Cerebello-Oculo-Renal Syndrome 1
|
Joubert Syndrome-1
|
Joubert Syndrome, Type 1
|
Joubert'S Syndrome
|
|
|
Nervous System Disease |
Abnormality Of The Nervous System
|
Nervous System Diseases
|
Nervous System Disorder
|
|
|