Diseases |
Alias |
|
Ceroid Lipofuscinosis, Neuronal, 6a |
Neuronal Ceroid Lipofuscinosis 6
|
CLN6
|
Vlincl
|
Cln6 Disease
|
Ceroid Lipofuscinosis, Neuronal, 6
|
Late-Infantile Neuronal Ceroid Lipofuscinosis
|
CLN6A
|
Neuronal Ceroid Lipofuscinosis, Late Infantile, Variant
|
Neuronal Ceroid Lipofuscinosis 6a
|
Neuronal Ceroid Lipofuscinosis 6 Variable Age Of Onset
|
Cln6 Disease, Adult Kufs Type A
|
Cln6 Disease, Late Infantile
|
Neuronal Ceroid Lipofuscinosis, Gypsy/Indian Early Juvenile Variant
|
Ceroid Lipofuscinosis Neuronal 6
|
Cln6-Related Neuronal Ceroid Lipofuscinosis
|
Late Infantile Neuronal Ceroid Lipofuscinosis
|
Jansky-Bielschowsky Disease
|
Lincl
|
Late Infantile Ncl
|
Neuronal Ceroid Lipofuscinosis 6 With Variable Age At Onset
|
Variant Late-Onset Infantile Neuronal Ceroid Lipofuscinosis
|
Ceroid Lipofuscinosis, Neuronal, Late Infantile, Variant
|
Lipofuscinosis, Ceroid, Neuronal, Type 6
|
Ceroid Lipofuscinosis, Neuronal, 5
|
|
|
Ceroid Lipofuscinosis, Neuronal, 6b |
CLN4A
|
Neuronal Ceroid Lipofuscinosis 4a
|
CLN6B
|
Neuronal Ceroid Lipofuscinosis 6b
|
Autosomal Recessive Neuronal Ceroid Lipofuscinosis 4a
|
Cln4a Disease
|
Ceroid Lipofuscinosis, Neuronal, 4a , Autosomal Recessive
|
Adult Neuronal Ceroid Lipofuscinosis
|
Cln6 Disease Kufs Type A
|
Kufs Disease
|
Kufs Disease Autosomal Recessive
|
Kufs Disease, Autosomal Recessive
|
|
|
Nervous System Disease |
Abnormality Of The Nervous System
|
Nervous System Diseases
|
Nervous System Disorder
|
|
|
Neuronal Ceroid Lipofuscinosis |
Hereditary Ceroid Lipofuscinosis
|
Batten Disease
|
Ncl
|
Neuronal Ceroid-Lipofuscinoses
|
Lipofuscinosis, Ceroid, Neuronal
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Cerebromacular Dystrophy
|
Cerebromacular Degeneration
|
Ceroid-Lipofuscinosis
|
Ncl - [Neuronal Ceroid Lipofuscinosis]
|
Amaurotic Familial Idiocy
|
Amaurotic Idiocy
|
Amaurotic Idiot
|
Neuronal Lipofuscinosis
|
Pigmentary Retinal Lipoid Neuronal Heredodegeneration
|
|
|
Congenital Nervous System Abnormality |
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
Adult Neuronal Ceroid Lipofuscinosis |
Ancl
|
Adult Ncl
|
Kufs Disease
|
Cln4 Disease, Adult Autosomal Dominant
|
Kuf'S Disease
|
Neuronal Ceroid Lipofuscinosis 4
|
|
|
Neuronal Ceroid-Lipofuscinoses |
Infantile Neuronal Ceroid Lipofuscinosis
|
Santavuori Disease
|
Hagberg-Santavuori Disease
|
Incl
|
Infantile Ncl
|
Santavuori-Haltia Disease
|
Neuronal Ceroid-Lipofuscinosis, Infantile
|
Lipofuscin Storage Disease
|
Neuronal Ceroid Lipofuscinoses
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
|
|
Ceroid Lipofuscinosis, Neuronal, 2 |
Jansky-Bielschowsky Disease
|
Neuronal Ceroid Lipofuscinosis 2
|
CLN2
|
Lincl
|
Cln2 Disease
|
Late-Infantile Neuronal Ceroid Lipofuscinosis
|
Ceroid Lipofuscinosis, Neuronal, 2, Variable Age At Onset
|
Neuronal Ceroid Lipofuscinosis 2 Variable Age At Onset
|
Cln2 Disease, Juvenile
|
Cln2 Disease, Late Infantile
|
Late-Infantile Batten Disease
|
Neuronal Ceroid Lipofuscinosis, Late-Infantile
|
Classic Late Infantile Ncl
|
Classic Late Infantile Neuronal Ceroid Lipofuscinosis
|
Neuronal Ceroid Lipofuscinosis 2 With Variable Age At Onset
|
Lipofuscinosis, Ceroid, Neuronal, Type 2
|
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
|
|
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
Northern Epilepsy
|
Neuronal Ceroid Lipofuscinosis 8 Northern Epilepsy Variant
|
Epmr
|
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
|
Northern Epilepsy Syndrome
|
Epilepsy, Progressive, With Mental Retardation
|
Northern Epilepsy Variant, Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant
|
Progressive Epilepsy With Mental Retardation, Northern Epilepsy
|
Cln8 Disease, Northern Epilepsy Variant
|
Ncl, Northern Epilepsy Variant
|
Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant
|
CLN8NE
|
Ceroid Lipofuscinosis, Neuronal, 8
|
|
|
Ceroid Lipofuscinosis, Neuronal, 11 |
Neuronal Ceroid Lipofuscinosis 11
|
CLN11
|
Cln11 Disease
|
Grn-Related Neuronal Ceroid-Lipofuscinosis
|
Lipofuscinosis, Ceroid, Neuronal, Type 11
|
|
|
Spastic Ataxia |
|
|
Progressive Myoclonus Epilepsy 3 |
Cln14 Disease
|
Epm3
|
Neuronal Ceroid Lipofuscinosis 14
|
Pme Type 3
|
Progressive Myoclonic Epilepsy Due To Kctd7 Deficiency
|
Progressive Myoclonus Epilepsy Type 3
|
Epilepsy, Progressive Myoclonic 3
|
|
|
Ceroid Lipofuscinosis, Neuronal, 3 |
Batten Disease
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Neuronal Ceroid Lipofuscinosis 3
|
CLN3
|
Jncl
|
Spielmeyer-Vogt Disease
|
Vogt-Spielmeyer Disease
|
Spielmeyer-Sjogren Disease
|
Cln3 Disease
|
Neuronal Ceroid Lipofuscinosis, Juvenile
|
Cln3 Disease, Juvenile
|
Spielmeyer Sjogren Disease
|
Vogt Spielmeyer Disease
|
Batten-Mayou Disease
|
Batten-Spielmeyer-Vogt Disease
|
Cln3-Related Neuronal Ceroid-Lipofuscinosis
|
Juvenile Batten Disease
|
Juvenile Cerebroretinal Degeneration
|
Classic Juvenile Ncl
|
Classic Juvenile Neuronal Ceroid Lipofuscinosis
|
Juvenile Ncl
|
Lipofuscinosis, Ceroid, Neuronal, Type 3
|
|
|
Ceroid Lipofuscinosis, Neuronal, 13 |
Neuronal Ceroid Lipofuscinosis 13
|
CLN13
|
Neuronal Ceroid Lipofuscinosis 13 Kufs Type
|
Cln13 Disease
|
Lipofuscinosis, Ceroid, Neuronal, Type 13
|
|
|
Photosensitive Epilepsy |
Pse
|
Photogenic Epilepsy
|
Photoparoxysmal Response
|
Reflex Epilepsy, Photosensitive
|
Photoparoxysmal Response 1
|
|
|
Unverricht-Lundborg Syndrome |
Unverricht-Lundborg Disease
|
Epm1
|
Myoclonic Epilepsy Of Unverricht And Lundborg
|
Myoclonus Progressive Epilepsy Of Unverricht And Lundborg
|
Unverricht - Lundborg Disease
|
Unverricht'S Disease
|
Epilepsy, Progressive Myoclonic Type 1
|
Epilepsy, Progressive Myoclonus 1
|
Progressive Myoclonus Epilepsy Baltic Myoclonic Epilepsy
|
Baltic Myoclonic Epilepsy
|
Baltic Myoclonus
|
Baltic Myoclonus Epilepsy
|
Lundborg-Unverricht Syndrome
|
Mediterranean Myoclonic Epilepsy
|
Pme
|
Progressive Myoclonic Epilepsy
|
Progressive Myoclonus Epilepsy 1
|
Uld
|
Myoclonic Epilepsies, Progressive
|
|
|
Spinocerebellar Ataxia, Autosomal Recessive 7 |
SCAR7
|
Autosomal Recessive Spinocerebellar Ataxia 7
|
Spinocerebellar Ataxia Autosomal Recessive 7
|
Childhood Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
|
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
|
Autosomal Recessive Spinocerebellar Ataxia Type 7
|
Spinocerebellar Ataxia, Autosomal Recessive, 7
|
Ataxia, Spinocerebellar, Autosomal Recessive, Type 7
|
|
|
Ceroid Lipofuscinosis, Neuronal, 10 |
Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency
|
Neuronal Ceroid Lipofuscinosis 10
|
CLN10
|
Cathepsin D Deficiency
|
Congenital Neuronal Ceroid Lipofuscinosis
|
Neuronal Ceroid Lipofuscinosis Cathepsin D-Deficient
|
Cln10 Disease
|
Ceroid Lipofuscinosis, Neuronal, Cathepsin D-Deficient
|
Cln10 Disease, Adult
|
Cln10 Disease, Congenital
|
Cln10 Disease, Juvenile
|
Cln10 Disease, Late Infantile
|
Ceroid Lipofuscinosis Neuronal Cathepsin D-Deficient
|
Cathepsin D Deficient Neuronal Ceroid Lipofuscinosis
|
Congenital Ncl
|
Lipofuscinosis, Ceroid, Neuronal, Type 10
|
Neuronal Ceroid Lipofuscinosis, Congenital
|
|
|
Progressive Myoclonus Epilepsy |
Pme
|
Progressive Myoclonic Epilepsy
|
Myoclonic Epilepsies, Progressive
|
Unverricht-Lundborg Syndrome
|
|
|
Visual Epilepsy |
Seizures
|
Epilepsy, Visual
|
Visual Seizure
|
Acute Symptomatic Seizure
|
Provoked Seizure
|
Nonepileptic Seizure Disorder
|
Uncontrolled Seizures
|
Seizure Nos
|
Fits Nos
|
Onset Seizure Nos
|
Seizure Disturbance
|
|
|
Epilepsy |
Epilepsy Syndrome
|
Epileptic Syndrome
|
Epilepsies
|
Symptomatic Epilepsies
|
Post Traumatic Epilepsy
|
Traumatic Epilepsy
|
Traumatic Epileptic
|
Epilepsy Due To Hippocampal Sclerosis
|
Epilepsy With Ammon'S Horn Sclerosis
|
Epilepsy Due To Cortical Dysplasia
|
Epilepsy Due To Neuronal Migration Disorders
|
|
|
Ceroid Lipofuscinosis, Neuronal, 7 |
CLN7
|
Neuronal Ceroid Lipofuscinosis 7
|
Cln7 Disease
|
Cln7 Disease, Late Infantile
|
Mfsd8-Related Neuronal Ceroid Lipofuscinosis
|
Turkish Variant Late Infantile Ncl
|
Lipofuscinosis, Ceroid, Neuronal, Type 7
|
|
|
Scheie Syndrome |
Mucopolysaccharidosis Type Is
|
Alpha-L-Iduronidase Deficiency
|
Mucopolysaccharidosis Type I
|
Mucopolysaccharidosis I
|
Hurler-Scheie Syndrome
|
Mucopolysaccharidosis Type 1
|
Mucopolysaccharidosis Is
|
Mucopolysaccharidosis Type 1s
|
Mucopolysaccharidosis Type V
|
Hurler Syndrome
|
Idua Deficiency
|
Mps I
|
MPS1S
|
Mps1-S
|
Mucopolysaccharidosis Type V, Formerly
|
Mps V, Formerly
|
Mps5, Formerly
|
Lipochondrodystrophy
|
Mpsis
|
Mucopolysaccharidosis, Type I
|
Iduronidase Deficiency Disease
|
Mps I - Hurler Syndrome
|
Mucopolysaccharidosis, Mps-I
|
Mucopolysaccharidosis, Type 1
|
Attenuated Mps I
|
Mps 1
|
Scheie Syndrome Formerly Known As Mucopolysaccharidosis Type V)
|
Severe Mps I
|
Mps I H
|
Mps I H-S
|
Mps I S
|
Mps1
|
Mpsi
|
Mucopolysaccharidosis 1s
|
Mps Is
|
Mps-Is
|
Mps V
|
Mucopolysaccharidosis V
|
Pfaundler-Hurler Syndrome
|
L-Iduronidase Deficiency
|
Dysostosis Multiplex
|
Dysostosis Multiplex Syndrome
|
Gargoylism
|
Mps1 - [Mucopolysaccharidosis Type 1]
|
|
|
Mucopolysaccharidosis, Type Iiib |
Mucopolysaccharidosis Type Iiib
|
MPS3B
|
Naglu Deficiency
|
Mps Iiib
|
Sanfilippo Syndrome B
|
N-Acetyl-Alpha-D-Glucosaminidase Deficiency
|
Mpsiiib
|
Mucopoly-Saccharidosis Type 3b
|
Mucopolysaccharidosis Type 3b
|
N-Acetyl-Alpha-Glucosaminidase Deficiency
|
Sanfilippo Syndrome Type B
|
Mps Iii B
|
Mps 3b
|
Mps Iii-B
|
Mucopolysaccharidosis 3b
|
|
|
Glycoproteinosis |
Sialidosis
|
Mucolipidosis Type I
|
Mucolipidoses
|
Cherry Red Spot Myoclonus Syndrome
|
Mucolipidosis I
|
Myoclonus Cherry Red Spot Syndrome
|
Type I Mucolipidosis
|
Lipomucopolysaccharidosis
|
Disorders Of Glycoprotein Metabolism
|
Glycoprotein Storage Disorder
|
|
|
Mucopolysaccharidosis, Type Iiia |
Mucopolysaccharidosis Type Iiia
|
MPS3A
|
Mps Iiia
|
Sanfilippo Syndrome A
|
Heparan Sulfate Sulfatase Deficiency
|
Sulfamidase Deficiency
|
Heparan Sulfamidase Deficiency
|
Mpsiiia
|
Mucopolysaccharidosis Type 3a
|
Sanfilippo Syndrome Type A
|
Mucopolysaccharidosis Iii-A
|
Heparane Sulfamidase Deficiency
|
Mps 3a
|
Mucopoly-Saccharidosis Type 3a
|
Mps Iii-A
|
Mucopolysaccharidosis 3a
|
Mucopolysaccharidosis Iii
|
|
|
Spinal Muscular Atrophy, Type I |
Werdnig-Hoffmann Disease
|
SMA1
|
Spinal Muscular Atrophy 1
|
Sma I
|
Sma, Infantile Acute Form
|
Muscular Atrophy, Infantile
|
Spinal Muscular Atrophy-1
|
Hmn Proximal Type I
|
Infantile Muscular Atrophy
|
Proximal Spinal Muscular Atrophy Type 1
|
Sma Type 1
|
Sma Type I
|
Sma-I
|
Hereditary Motor Neuropathy Proximal Type I
|
Progressive Muscular Atrophy Of Infancy
|
Proximal Spinal Muscular Atrophy, Type 1
|
Werdnig Hoffmann Disease
|
Infantile Spinal Muscular Atrophy
|
Infantile-Onset Spinal Muscular Atrophy
|
Proximal Hereditary Motor Neuropathy Type I
|
Sma Infantile Acute Form
|
Spinal Muscular Atrophy Type I
|
Werdnig-Hoffman Disease
|
Atrophy, Muscular, Spinal, Type 1
|
|
|
Mucopolysaccharidosis Iii |
Sanfilippo Syndrome
|
Mucopolysaccharidosis Type Iii
|
Mucopolysaccharidosis Type 3
|
Mps Iii
|
Mpsiii
|
Sanfilippo Disease
|
Heparan Sulfate Sulfatase Deficiency
|
Mucopolysaccharidosis, Mps-Iii
|
N-Sulphoglucosamine Sulphohydrolase Deficiency
|
Naglu Deficiency
|
Sanfilippo'S Syndrome
|
Mucopoly-Saccharidosis Type 3
|
Mps3
|
Sanfilippos Syndrome
|
Mucopolysaccharidosis Type Iiia
|
Mps Iii B
|
|
|
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
Jankovic-Rivera Syndrome
|
SMAPME
|
Sma-Pme
|
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
|
Hereditary Myoclonus-Progressive Distal Muscular Atrophy Syndrome
|
Hereditary Myoclonus With Progressive Distal Muscular Atrophy
|
Jankovic Rivera Syndrome
|
Myoclonus, Hereditary, With Progressive Distal Muscular Atrophy
|
Myoclonus Hereditary Progressive Distal Muscular Atrophy
|
Atrophy, Muscular, Spinal, With Progressive Myoclonic Epilepsy
|
|
|
Gm2 Gangliosidosis |
Gangliosidosis Gm2
|
Gangliosidoses, Gm2
|
|
|
Myoclonic Epilepsy Of Lafora |
Lafora Disease
|
Epilepsy, Progressive Myoclonic 2b
|
EPM2
|
Melf
|
Epilepsy, Progressive Myoclonic 2a
|
Epm2a
|
Lafora'S Disease
|
Lafora Body Disease
|
Lbd
|
Epilepsy, Progressive Myoclonic, 2a
|
Lafora Progressive Myoclonic Epilepsy
|
Epilepsy Progressive Myoclonic 2
|
Lafora Body Disorder
|
Pme Type 2
|
Progressive Myoclonic Epilepsy Type 2
|
Progressive Myoclonus Epilepsy Type 2
|
Epilepsy, Progressive Myoclonic 2
|
Epm2b
|
Ld
|
Progressive Myoclonic Epilepsy 2
|
Progressive Myoclonic Epilepsy 2a
|
Progressive Myoclonic Epilepsy 2b
|
Progressive Myoclonic Epilepsy Lafora Type
|
Epilepsy, Myoclonic, Of Lafora
|
|
|
Tay-Sachs Disease |
Hexosaminidase A Deficiency
|
TSD
|
Hexa Deficiency
|
Gm2 Gangliosidosis, Type 1
|
Hexosaminidase Alpha-Subunit Deficiency
|
Gm2-Gangliosidosis, Several Forms
|
Gm2-Gangliosidosis, B, B1, Ab Variant
|
B Variant Gm2 Gangliosidosis
|
Sphingolipidosis, Tay-Sachs
|
Gm2-Gangliosidosis, Type I
|
B Variant Gm2-Gangliosidosis
|
Hex A Pseudodeficiency
|
Hexa Disorders
|
Beta-Hexosaminidase A Deficiency
|
Gm2 Gangliosidosis, Type I
|
Gangliosidosis Gm2 , Type 1
|
Gm2 Gangliosidosis, B, B1 Variant
|
Gm2-Gangliosidosis 1
|
GM2G1
|
Gm2-Gangliosidosis B Variant
|
Tay-Sachs Disease Pseudo-Ab Variant
|
Tay-Sachs Disease Variant B1
|
Gangliosidoses, Gm2
|
|
|
Gangliosidosis |
|
|
Gm1 Gangliosidosis |
Beta-Galactosidase Deficiency
|
Gangliosidosis Gm1
|
Deficiency Of Beta-Galactosidase
|
Beta Galactosidase 1 Deficiency
|
Beta-Galactosidosis
|
Glb 1 Deficiency
|
Beta-Galactosidase-1 Deficiency
|
Beta-Galactosidase-1 Deficiency
|
Glb1 Deficiency
|
Landing Disease
|
Gangliosidosis, Gm1
|
|
|
Aspartylglucosaminuria |
Aspartylglycosaminuria
|
Glycosylasparaginase Deficiency
|
Aspartylglucosaminidase Deficiency
|
Aga Deficiency
|
AGU
|
Aspartylglucosamidase Deficiency
|
Glycoasparaginase
|
Aspartylglucosamidase Deficiency
|
Hyperammonemia, Type Iii
|
|
|
Mucolipidosis |
|
|
Early Myoclonic Encephalopathy |
Myoclonic Epilepsy
|
Myoclonic Seizure
|
Epilepsies, Myoclonic
|
Epileptic Seizures - Myoclonic
|
Epileptic Seizures, Myoclonic
|
Myoclonia Epileptica
|
Myoclonic Seizure Disorder
|
Early Myoclonic Encephalopathy With Suppression-Bursts
|
|
|
Neonatal Period Electroclinical Syndrome |
|
|
Childhood Spinal Muscular Atrophy |
Spinal Muscular Atrophies Of Childhood
|
Survival Motor Neuron Spinal Muscular Atrophy
|
|
|
Lipid Storage Disease |
Lipoidosis
|
Inborn Lipid Storage Disorder
|
Lipoid Storage Diseas
|
Lipid Storage Diseases
|
Lipidoses
|
|
|
Metachromatic Leukodystrophy |
Arylsulfatase A Deficiency
|
MLD
|
Arsa Deficiency
|
Sulfatide Lipidosis
|
Metachromatic Leukoencephalopathy
|
Cerebral Sclerosis, Diffuse, Metachromatic Form
|
Cerebroside Sulfatase Deficiency
|
Leukodystrophy, Metachromatic
|
Pseudoarylsulfatase A Deficiency
|
Leukodystrophy Metachromatic
|
Sulfatidosis
|
Metachromatic Leukodystrophy, Late Infantile
|
Metachromatic Leukodystrophy Variant
|
Deficiency Of Cerebroside-Sulfatase
|
Scholz Cerebral Sclerosis
|
Sulfatide Lipoidosis
|
Cerebral Sclerosis Diffuse Metachromatic Form
|
Arylsulfatase A Deficiency Disease
|
Cerebroside Sulphatase Deficiency Disease
|
Greenfield Disease
|
Metachromatic Leukodystrophy, Adult
|
Metachromatic Leukodystrophy, Juvenile
|
Leukodystrophy Metachromatic Adult
|
Leukodystrophy Metachromatic Juvenile
|
Leukodystrophy Metachromatic Late Infantile
|
Metachromatic Leukodystrophy, Adult Type
|
Metachromatic Leukodystrophy, Juvenile Type
|
Metachromatic Leukodystrophy, Infant
|
Greenfield'S Disease
|
|
|
Fundus Dystrophy |
Retinal Dystrophy
|
Retinal Dystrophies
|
Dystrophy, Retinal
|
|
|