| 疾病名称 |
别名 |
|
| Ceroid Lipofuscinosis, Neuronal, 1 |
|
Neuronal Ceroid Lipofuscinosis 1
|
CLN1
|
|
Infantile Neuronal Ceroid Lipofuscinosis
|
Cln1 Disease
|
|
Santavuori-Haltia Disease
|
Ceroid Lipofuscinosis, Neuronal, 1, Variable Age At Onset
|
|
Neuronal Ceroid Lipofuscinosis 1 Variable Age Of Onset
|
Ceroid Lipofuscinosis Neuronal 1
|
|
Cln1 Variable Age At Onset
|
Infantile Batten Disease
|
|
Neuronal Ceroid Lipofuscinosis, Infantile
|
Hagberg-Santavuori Disease
|
|
Incl
|
Juvenile Neuronal Ceroid Lipofuscinosis With Granular Osmiophilic Deposits
|
|
Neuronal Ceroid Lipofuscinosis With Variable Age At Onset
|
Santavuori Disease
|
|
Lipofuscinosis, Ceroid, Neuronal, Type 1
|
Ceroid Lipofuscinosis, Neuronal 1, Infantile
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Peripheral Retinal Degeneration |
|
Peripheral Degeneration Of Retina
|
Degeneration Of Retina Nos
|
|
Reticular Retinal Degeneration
|
Retinal Degeneration
|
|
|
| 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
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
| 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
|
|
|
| Spastic Ataxia |
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| Ceroid Lipofuscinosis, Neuronal, 11 |
|
Neuronal Ceroid Lipofuscinosis 11
|
CLN11
|
|
Cln11 Disease
|
Grn-Related Neuronal Ceroid-Lipofuscinosis
|
|
Lipofuscinosis, Ceroid, Neuronal, Type 11
|
|
|
| Lysosomal Storage Disease |
|
Lysosomal Storage Diseases
|
Disorder Of Lysosomal Enzyme
|
|
Inborn Lysosomal Enzyme Disorder
|
Lysosomal Storage Metabolism Disorder
|
|
Lysosomal Storage Disorder
|
|
|
| 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
|
|
|
| Ceroid Lipofuscinosis, Neuronal, 9 |
|
Neuronal Ceroid Lipofuscinosis 9
|
CLN9
|
|
Cln 9
|
Cln9 Disease
|
|
|
| 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
|
|
|
| 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
|
|
|
| Kanzaki Disease |
|
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
|
Naga Deficiency Type 2
|
|
Schindler Disease, Type Ii
|
Adult-Onset Alpha-N-Acetylgalactosaminidase Deficiency
|
|
Schindler Disease Type 2
|
Alpha-N-Acetylgalactosaminidase Deficiency, Type Ii
|
|
Alpha-N-Acetylgalactosaminidase Deficiency, Adult-Onset
|
Naga Deficiency, Type Ii
|
|
Alpha-N-Acetylgalactosaminidase Deficiency Adult Onset
|
KANZD
|
|
Naga Deficiency Type Ii
|
Schindler Disease Type Ii
|
|
|
| Schindler Disease |
|
Alpha-N-Acetylgalactosaminidase Deficiency
|
Naga Deficiency
|
|
Alpha-Galactosidase B Deficiency
|
Alpha-Galnac Deficiency, Schindler Type
|
|
Alpha-Naga Deficiency
|
Angiokeratoma Corporis Diffusum-Glycopeptiduria
|
|
Galb Deficiency
|
Kanzaki Disease
|
|
Lysosomal Glycoaminoacid Storage Disease-Angiokeratoma Corporis Diffusum
|
Neuroaxonal Dystrophy, Schindler Type
|
|
Neuronal Axonal Dystrophy, Schindler Type
|
Schindler Disease, Type I
|
|
Schindler Disease, Type Ii
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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]
|
|
|
| Gm2 Gangliosidosis |
|
Gangliosidosis Gm2
|
Gangliosidoses, Gm2
|
|
|
| Mannosidosis, Alpha B, Lysosomal |
|
Alpha-Mannosidosis
|
Lysosomal Alpha-D-Mannosidase Deficiency
|
|
Deficiency Of Alpha-Mannosidase
|
Alpha-Mannosidase B Deficiency
|
|
Mannosidosis
|
MANSA
|
|
Mannosidosis, Alpha-, Types I And Ii
|
Alpha-D-Mannosidosis
|
|
Alpha-Mannosidase Deficiency
|
Α-Mannosidosis
|
|
Alpha Mannosidase B Deficiency
|
Mannosidosis, Alpha B Lysosomal
|
|
Lysosomal Alpha B Mannosidosis
|
Alpha-Mannosidosis, Infantile Form
|
|
Lysosomal Alpha-D-Mannosidase Deficiency, Infantile Form
|
Alpha-Mannosidosis, Adult Form
|
|
Lysosomal Alpha-D-Mannosidase Deficiency, Adult Form
|
Alpha-Mannosidosis Types I And Ii
|
|
Mannosidase Deficiency Diseases
|
|
|
| Gangliosidosis |
|
|
| 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
|
|
|
| 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
|
|
|
| Lipid Storage Disease |
|
Lipoidosis
|
Inborn Lipid Storage Disorder
|
|
Lipoid Storage Diseas
|
Lipid Storage Diseases
|
|
Lipidoses
|
|
|
| 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
|
|
|
| Krabbe Disease |
|
Globoid Cell Leukodystrophy
|
Galactosylceramide Beta-Galactosidase Deficiency
|
|
Galc Deficiency
|
Galactocerebrosidase Deficiency
|
|
GLD
|
Globoid Cell Leukoencephalopathy
|
|
Diffuse Globoid Body Sclerosis
|
Gcl
|
|
Leukodystrophy, Globoid Cell
|
Krabbe'S Leukodystrophy
|
|
Krabbe Leukodystrophy
|
KRB
|
|
Beta Galactocerebrosidase Deficiency
|
Krabbe'S Disease
|
|
Galactosylceramidase Deficiency Disease
|
Galactosylceramide Lipidosis
|
|
Galactosylcerebrosidase Deficiency
|
Galactosylsphingosine Lipidosis
|
|
Psychosine Lipidosis
|
Galactosylceramidase Deficiency
|
|
Infantile Globoid Cell Leukodystrophy
|
Krabbe Brain Sclerosis
|
|
|
| Retinal Degeneration |
|
|
| Sandhoff Disease |
|
Total Hexosaminidase Deficiency
|
Hexosaminidases A And B Deficiency
|
|
Sandhoff Disease, Infantile, Juvenile, And Adult Forms
|
Beta-Hexosaminidase-Beta-Subunit Deficiency
|
|
Gm2 Gangliosidosis, Type 2
|
Hexosaminidase A And B Deficiency Disease
|
|
Sandhoff-Jatzkewitz-Pilz Disease
|
Gm2 Gangliosidosis, Type Ii
|
|
Sandhoff Disease, Infantile Form
|
Sandhoff Disease, Adult Form
|
|
Sandhoff Disease, Juvenile Form
|
Gm2-Gangliosidosis, Type Ii
|
|
Sandhoff Jatzkewitz Disease
|
Type Ii Gm2 Gangliosidosis
|
|
Gm2 Gangliosidosis, 0 Variant
|
Gm2 Gangliosidosis 0 Variant
|
|
Hexosaminidases A And B Deficiency, Infantile Form
|
Infantile Gm2 Gangliosidosis 0 Variant
|
|
Adult Gm2 Gangliosidosis 0 Variant
|
Hexosaminidases A And B Deficiency, Adult Form
|
|
Hexosaminidases A And B Deficiency, Juvenile Form
|
Juvenile Gm2 Gangliosidosis 0 Variant
|
|
Gm2-Gangliosidosis 2
|
GM2G2
|
|
Hexosaminidase A And B Deficiency
|
Sd
|
|
|
| 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
|
|
|
| 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
|
|
|
| Progressive Myoclonus Epilepsy |
|
Pme
|
Progressive Myoclonic Epilepsy
|
|
Myoclonic Epilepsies, Progressive
|
Unverricht-Lundborg Syndrome
|
|
|
| Mucolipidosis |
|
|
| 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
|
|
|
| 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
|
|
|
| Sphingolipidosis |
|
|
| Gaucher Disease, Type I |
|
Glucocerebrosidase Deficiency
|
Acid Beta-Glucosidase Deficiency
|
|
Gba Deficiency
|
GD1
|
|
Gd I
|
Gaucher Disease, Noncerebral Juvenile
|
|
Gaucher Disease Type 1
|
Gaucher Disease Type I
|
|
Gaucher'S Disease Type I
|
Gaucher Disease
|
|
Gd 1
|
Non-Cerebral Juvenile Gaucher Disease
|
|
GD
|
Gaucher Disease 1
|
|
Adult Non-Neuronopathic Gaucher Disease
|
Noncerebral Juvenile Gaucher Disease
|
|
Type 1 Gaucher Disease
|
Gaucher Disease, Type 1
|
|
|
| Mucopolysaccharidosis, Type Ii |
|
Hunter Syndrome
|
Iduronate 2-Sulfatase Deficiency
|
|
Mucopolysaccharidosis Ii
|
Mps Ii
|
|
Mucopolysaccharidosis Type Ii
|
MPS2
|
|
Sulfoiduronate Sulfatase Deficiency
|
Mucopolysaccharidosis, Mps-Ii
|
|
Ids Deficiency
|
Sids Deficiency
|
|
I2s Deficiency
|
Mucopolysaccharidosis Type 2
|
|
Mucopolysaccharidosis Type 2, Severe Form
|
Deficiency Of Iduronate-2-Sulphatase
|
|
Hunter'S Syndrome
|
Mps Ii - Hunter Syndrome
|
|
Iduronate-2-Sulfatase Deficiency
|
Attenuated Mps
|
|
Mps 2
|
Severe Mps Ii
|
|
Mpsii
|
Mucopolysaccharidosis Type 2, Attenuated Form
|
|
Hunter Syndrome Type B
|
Iduronate 2-Sulfatase Deficiency Type B
|
|
Mps2b
|
Mpsiib
|
|
Mucopolysaccharidosis Type 2b
|
Mucopolysaccharidosis Type Ii, Attenuated Form
|
|
Mucopolysaccharidosis Type Iib
|
Hunter Syndrome Type A
|
|
Iduronate 2-Sulfatase Deficiency Type A
|
Mps2a
|
|
Mpsiia
|
Mucopolysaccharidosis Type 2a
|
|
Mucopolysaccharidosis Type Ii, Severe Form
|
Mucopolysaccharidosis Type Iia
|
|
Mucopolysaccharidosis 2
|
Hunters Syndrome
|
|
Iduronate 2-Sulphatase Deficiency
|
Iduronate Sulfatase Deficiency
|
|
Iduronate Sulphatase Deficiency
|
Sulfo-Iduronate Sulfatase Deficiency
|
|
Sulfoiduronidate Sulfatase Deficiency
|
Sulpho-Iduronate Sulphatase Deficiency
|
|
Sulphoiduronidate Sulphatase Deficiency
|
Mps2 - [Mucopolysaccharidosis 2]
|
|
|
| Photosensitive Epilepsy |
|
Pse
|
Photogenic Epilepsy
|
|
Photoparoxysmal Response
|
Reflex Epilepsy, Photosensitive
|
|
Photoparoxysmal Response 1
|
|
|
| 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
|
|
|
| Gaucher'S Disease |
|
Gaucher Disease
|
Kerasin Thesaurismosis
|
|
Glucocerebrosidase Deficiency
|
Glucosylceramidase Deficiency
|
|
Cerebroside Lipidosis Syndrome
|
Acid Beta-Glucosidase Deficiency
|
|
Glucosylceramide Beta-Glucosidase Deficiency
|
Acute Cerebral Gaucher Disease
|
|
Gaucher Splenomegaly
|
Glucocerebrosidosis
|
|
Glucosyl Cerebroside Lipidosis
|
Kerasin Lipoidosis
|
|
Lipoid Histiocytosis
|
Glocucerebrosidase Deficiency
|
|
Sphingolipidosis 1
|
Gaucher Syndrome
|
|
Gauchers Disease
|
Gd
|
|
Glucosylceramide Lipidosis
|
Kerasin Histiocytosis
|
|
Gaucher Disease, Type 1
|
Gaucher Disease, Type 2
|
|
|
| Niemann-Pick Disease |
|
Sphingomyelin/Cholesterol Lipidosis
|
Niemann-Pick Diseases
|
|
Lipoid Histiocytosis
|
Sphingomyelin Lipidosis
|
|
Sphingomyelinase Deficiency Disease
|
Lipid Histiocytosis
|
|
Neuronal Cholesterol Lipidosis
|
Neuronal Lipidosis
|
|
Npd
|
Sphingomyelinase Deficiency
|
|
Niemann-Pick Disease, Type A
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
