| Diseases |
Alias |
|
| Aland Island Eye Disease |
|
AIED
|
Forsius-Eriksson Type Ocular Albinism
|
|
Forsius-Eriksson Syndrome
|
Autoimmune Inner Ear Disease
|
|
Forsius Eriksson Type Ocular Albinism
|
Aland Islands Eye Disease
|
|
Aaland Island Eye Disease
|
Ocular Albinism, Type Ii
|
|
|
| Night Blindness, Congenital Stationary, Type 2a |
|
Congenital Stationary Night Blindness 2a
|
CSNB2A
|
|
Csnb2
|
Csnb, Incomplete, X-Linked
|
|
Night Blindness, Congenital Stationary, Type 2
|
Night Blindness, Congenital Stationary , 2a, X-Linked
|
|
Congenital Stationary Night Blindness 2a X-Linked
|
Night Blindness, Congenital Stationary, 2a
|
|
Congenital Stationary Night Blindness Type 2
|
Incomplete X-Linked Csnb
|
|
Night Blindness, Congenital Stationary, X-Linked, Type 2a
|
Blindness, Night, Stationary, Congenital, Type 2a
|
|
|
| Cone-Rod Dystrophy, X-Linked, 3 |
|
CORDX3
|
X-Linked Cone-Rod Dystrophy 3
|
|
Cone-Rod Dystrophy X-Linked 3
|
Cone-Rod Dystrophy, X-Linked 3
|
|
Dystrophy, Cone-Rod, X-Linked, Type 3
|
|
|
| Congenital Stationary Night Blindness |
|
Night Blindness, Congenital Stationary
|
Congenital Essential Nyctalopia
|
|
Oguchi Disease
|
Blindness, Night, Stationary, Congenital
|
|
|
| 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
|
|
|
| Progressive Cone Dystrophy |
|
Cone Dystrophy
|
Cone Dystrophy Progressive
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
| Night Blindness |
|
|
| Amblyopia |
|
|
| Eye Disease |
|
Eye Diseases
|
Abnormality Of The Eye
|
|
Toxoplasma Oculopathy
|
|
|
| Myopia |
|
Near-Sightedness
|
Short-Sightedness
|
|
Nearsightedness
|
Nearsighted
|
|
Near Vision
|
Close Sighted
|
|
Myopic
|
Short-Sighted
|
|
Near Sighted
|
|
|
| Oguchi Disease |
|
Stationary Night Blindness, Oguchi Type
|
Congenital Stationary Night Blindness, Oguchi Type
|
|
Oguchi Syndrome
|
Oguchis Disease
|
|
|
| Retinal Disease |
|
Retinal Diseases
|
Retinal Disorder
|
|
Retinal Disorders
|
|
|
| X-Linked Congenital Stationary Night Blindness |
|
X-Linked Csnb
|
Congenital Stationary Night Blindness With Myopia
|
|
Hemeralopia-Myopia
|
Myopia-Night Blindness
|
|
Xlcsnb
|
Night Blindness, Congenital Stationary, Type 2a
|
|
Night Blindness, Congenital Stationary, Type 1a
|
|
|
| Night Blindness, Congenital Stationary, Type 1e |
|
CSNB1E
|
Congenital Stationary Night Blindness 1e
|
|
Csnb, Complete, Autosomal Recessive
|
Night Blindness, Congenital Stationary , 1e, Autosomal Recessive
|
|
Congenital Stationary Night Blindness 1e Autosomal Recessive
|
Night Blindness, Congenital Stationary, 1e
|
|
Complete Autosomal Recessive Csnb
|
Csnb1
|
|
Night Blindness, Congenital Stationary, Type 1
|
Blindness, Night, Stationary, Congenital, Type 1e
|
|
|
| Cone-Rod Dystrophy, X-Linked, 1 |
|
CORDX1
|
X-Linked Cone-Rod Dystrophy 1
|
|
Cod1
|
Cone Dystrophy X-Linked 1
|
|
X-Linked Cone Dystrophy 1
|
Cone-Rod Dystrophy X-Linked 1
|
|
Cone-Rod Dystrophy, X-Linked 1
|
Dystrophy, Cone-Rod, X-Linked, Type 1
|
|
Cone Dystrophy, X-Linked, 1
|
|
|
| Cone-Rod Dystrophy 3 |
|
CORD3
|
Dystrophy, Cone Rod, Type 3
|
|
|
| Astigmatism |
|
|
| 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
|
|
|
| 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
|
|
|
| Ocular Albinism |
|
Albinism, Ocular
|
Oa
|
|
Xloa
|
Albinism Ocular
|
|
|
| Retinal Cone Dystrophy 4 |
|
RCD4
|
Doid:0081023
|
|
Dystrophy, Retinal Cone, Type 4
|
|
|
| Night Blindness, Congenital Stationary, Type 1a |
|
Congenital Stationary Night Blindness 1a
|
CSNB1A
|
|
Hemeralopia-Myopia
|
Myopia-Night Blindness
|
|
Night Blindness, Congenital Stationary , 1a, X-Linked
|
Congenital Stationary Night Blindness With Myopia
|
|
Csnb, Complete, X-Linked
|
Night Blindness, Congenital Stationary, With Myopia
|
|
Nbm1
|
Complete Csnb X-Linked
|
|
Congenital Stationary Night Blindness 1a X-Linked
|
Nbmi
|
|
Night Blindness, Congenital Stationary, 1a
|
Complete X-Linked Csnb
|
|
Nyctalopia
|
Xlcsnb
|
|
X-Linked Congenital Stationary Night Blindness
|
Blindness, Night, Stationary, Congenital, Type 1a
|
|
Night Blindness
|
X-Linked Csnb
|
|
Night Blindness, Congenital Stationary, Type 2a
|
|
|
| Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Congenital Stationary Night Blindness Autosomal Dominant 1
|
CSNBAD1
|
|
Rhodopsin-Related Congenital Stationary Night Blindness
|
Night Blindness, Congenital Stationary, Rhodopsin-Related
|
|
Blindness, Night, Stationary, Congenital, Autosomal Dominant, Type 1
|
|
|
| Night Blindness, Congenital Stationary, Type 1c |
|
Congenital Stationary Night Blindness 1c
|
CSNB1C
|
|
Csnb, Complete, Autosomal Recessive
|
Night Blindness, Congenital Stationary , 1c, Autosomal Recessive
|
|
Congenital Stationary Night Blindness 1c Autosomal Recessive
|
Night Blindness, Congenital Stationary, 1c
|
|
Complete Autosomal Recessive Csnb
|
Night Blindness, Congenital Stationary, Type Ic
|
|
Blindness, Night, Stationary, Congenital, Type 1c
|
|
|
| Cone-Rod Dystrophy, X-Linked, 2 |
|
CORDX2
|
Cod2
|
|
X-Linked Cone-Rod Dystrophy 2
|
Cone Dystrophy 2, X-Linked
|
|
Cone Dystrophy, Progressive X-Linked, 2
|
X-Linked Cone Dystrophy 2
|
|
Cone-Rod Dystrophy X-Linked 2
|
Cone Dystrophy X-Linked 2
|
|
Cone Dystrophy-2, X-Linked
|
|
|
| Retinitis Pigmentosa 32 |
|
RP32
|
Retinitis Pigmentosa-32
|
|
|
| Timothy Syndrome |
|
Long Qt Syndrome With Syndactyly
|
TS
|
|
Lqt8
|
Long Qt Syndrome 8
|
|
Long Qt Syndrome Type 8
|
Long Qt Syndrome-Syndactyly Syndrome
|
|
|
| Fleck Retina, Familial Benign |
|
FRFB
|
Familial Benign Flecked Retina
|
|
Familial Benign Fleck Retina
|
|
|
| Retinitis Pigmentosa 24 |
|
RP24
|
Retinitis Pigmentosa-24
|
|
|
| Abnormal Threshold Of Rods |
|
Abnormal Dark Adaptation Curve
|
|
|
| Refractive Error |
|
|
| Episodic Ataxia, Type 2 |
|
Episodic Ataxia Type 2
|
EA2
|
|
Apca
|
Capa
|
|
Cerebellopathy, Hereditary Paroxysmal
|
Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia
|
|
Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive
|
Episodic Ataxia With Nystagmus
|
|
Ataxia, Episodic, With Nystagmus
|
Episodic Ataxia, Nystagmus-Associated
|
|
Ataxia, Familial Paroxysmal
|
Acetazolamide-Responsive Episodic Ataxia Syndrome
|
|
Acetazolamide-Responsive, Hereditary, Paroxysmal, Cerebellar Ataxia
|
Ataxia, Familial, Paroxysmal
|
|
Nystagmus-Associated Episodic Ataxia
|
Familial Paroxysmal Ataxia
|
|
Episodic Ataxia 2
|
Ea-2
|
|
Episodic Ataxia Nystagmus-Associated
|
Hereditary Paroxysmal Cerebellopathy
|
|
Ataxia, Episodic, Type 2
|
|
|
| Achromatopsia 3 |
|
ACHM3
|
Pingelapese Blindness
|
|
Total Colorblindness With Myopia
|
Achromatopsia With Myopia
|
|
Achm1
|
Rmch1
|
|
Rod Monochromacy 1
|
Rod Monochromatism 1
|
|
Achm1, Formerly
|
Rod Monochromatism 1, Formerly
|
|
Rod Monochromacy 1, Formerly
|
Rmch1, Formerly
|
|
Achromatopsia-3
|
Achromatopsia, Type 3
|
|
|
| Pathologic Nystagmus |
|
|
| Familial Periodic Paralysis |
|
Genetic Periodic Paralysis
|
Paralyses, Familial Periodic
|
|
|
| Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemic Periodic Paralysis
|
Hokpp
|
|
Hypopp
|
Westphall Disease
|
|
HOKPP1
|
Familial Hypokalemic Periodic Paralysis
|
|
Familial Periodic Paralysis
|
Westphal Disease
|
|
Hypokalemic Periodic Paralysis Type 1
|
Hypokalemic Familial Periodic Paralysis
|
|
Periodic Hypokalemic Paralysis
|
Periodic Paralysis I
|
|
Hypokpp
|
Primary Hypokalemic Periodic Paralysis
|
|
Periodic Paralysis Hypokalemic 1
|
Paralysis, Hypokalemic, Periodic
|
|
Paralysis, Hypokalemic, Periodic, Type 1
|
|
|
| Spinocerebellar Ataxia 6 |
|
Spinocerebellar Ataxia Type 6
|
SCA6
|
|
Type 6 Spinocerebellar Ataxia
|
Spinocerebellar Ataxia-6
|
|
Ataxia, Spinocerebellar, Type 6
|
|
|
| Congenital Nystagmus |
|
Nystagmus, Congenital
|
Nystagmus Congenital
|
|
|
| Arrhythmogenic Right Ventricular Cardiomyopathy |
|
Arrhythmogenic Right Ventricular Dysplasia
|
Arvc
|
|
Arvd
|
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
|
|
Arvc Cardiomyopathy
|
Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia
|
|
Arvd/C
|
Right Ventricular Dysplasia, Arrhythmogenic
|
|
Ventricular Dysplasia, Right, Arrhythmogenic
|
Cardiomyopathy, Ventricular, Right, Arrhythmogenic
|
|
Dysplasia, Arrhythmogenic Right Ventricular
|
|
|
| Achromatopsia |
|
Achm
|
Rod Monochromatism
|
|
Total Color Blindness
|
Rod Monochromacy
|
|
Monochromatism
|
Achromatism
|
|
Complete Or Incomplete Color Blindness
|
Pingelapese Blindness
|
|
Achromatopsia 1
|
Achromatopsia 2
|
|
Achromatopsia 3
|
|
|
| Blue Cone Monochromacy |
|
Blue Cone Monochromatism
|
BCM
|
|
Cbbm
|
Color Blindness Blue Mono Cone Monochromatic Type
|
|
Cone Dystrophy 5, X-Linked
|
Colorblindness, Blue-Mono-Cone-Monochromatic Type
|
|
Achromatopsia Incomplete X-Linked
|
Incomplete Achromatopsia X-Linked
|
|
X-Chromosome-Linked Achromatopsia
|
X-Linked Achromatopsia Incomplete
|
|
Atypical X-Linked Achromatopsia
|
Color Blindness, Blue Monocone Monochromatic Type
|
|
S Cone Monochromacy
|
S Cone Monochromatism
|
|
X-Linked Incomplete Achromatopsia
|
Colorblindness Blue-Mono-Cone-Monochromatic Type
|
|
Cone Dystrophy 5
|
COD5
|
|
Cone Dystrophy 5 X-Linked
|
Monochromacy, Blue Cone
|
|
Cone Monochromatism
|
Achromatopsia Incomplete, X-Linked
|
|
|
| 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
|
|
|
| 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
|
|
|
| Fundus Albipunctatus |
|
Retinitis Punctata Albescens
|
Pigmentary Retinal Dystrophy
|
|
RPA
|
Albipunctate Retinal Dystrophy
|
|
Lauber'S Disease
|
FALBI
|
|
Fa
|
|
|
| Cone Dystrophy |
|
Retinal Cone Dystrophy
|
Dystrophy, Cone
|
|
Cone Dystrophy 3
|
|
|
| Episodic Ataxia |
|
Isaacs Syndrome
|
Neuromyotonia
|
|
Isaacs' Syndrome
|
Acquired Neuromyotonia
|
|
Continuous Muscle Fiber Activity Syndrome
|
Quantal Squander Syndrome
|
|
Isaacs-Mertens Syndrome
|
Ea Syndrome
|
|
Episodic Ataxia Syndrome
|
Isaac Syndrome
|
|
Isaac'S-Merten'S Syndrome
|
Isaac-Mertens Syndrome
|
|
Peripheral Nerve Hyperexcitability
|
Ea
|
|
Peripheral Nerve Hyperexcitability Syndrome
|
Ataxia, Episodic
|
|
Isaacs Neuromyotonia
|
Continuous Muscle Fibre Activity
|
|
|
| Stickler Syndrome |
|
Arthroophthalmopathy
|
Hereditary Arthro-Ophthalmo-Dystrophy
|
|
Hereditary Arthro-Ophthalmopathy
|
Stickler Dysplasia
|
|
Hereditary Progressive Arthroophthalmopathy
|
Stickler Syndrome, Type 1
|
|
|
| Malignant Hyperthermia |
|
Anesthesia Related Hyperthermia
|
Malignant Hyperpyrexia Due To Anesthesia
|
|
Hyperpyrexia, Malignant
|
Hyperthermia, Malignant
|
|
Malignant Hyperpyrexia
|
Mhs
|
|
Malignant Fever
|
|
|
| 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
|
|
|
