| 疾病名称 |
别名 |
|
| Niemann-Pick Disease, Type C1 |
|
Niemann-Pick Disease, Type C
|
NPC1
|
|
Niemann-Pick Disease, Type D
|
Niemann-Pick Disease Type C1
|
|
Niemann-Pick Disease With Cholesterol Esterification Block
|
Niemann-Pick Disease, Subacute Juvenile Form
|
|
Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia
|
Npc
|
|
Niemann-Pick Disease, Chronic Neuronopathic Form
|
Niemann-Pick Disease Without Sphingomyelinase Deficiency
|
|
Niemann-Pick Disease Type C
|
Niemann-Pick Disease Type D
|
|
Niemann-Pick C1 Disease
|
Niemann-Pick Disease C1
|
|
Niemann-Pick Disease Chronic Neuronopathic Form
|
Niemann-Pick Disease Nova Scotian Type
|
|
Niemann-Pick Disease Subacute Juvenile Form
|
Niemann-Pick Disease Type Ii
|
|
Niemann-Picks Disease Type C
|
|
|
| Niemann-Pick Disease Type C, Severe Perinatal Form |
|
|
| Niemann-Pick Disease Type C, Late Infantile Neurologic Onset |
|
|
| Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset |
|
|
| Niemann-Pick Disease Type C, Adult Neurologic Onset |
|
|
| Niemann-Pick Disease Type C, Juvenile Neurologic Onset |
|
Niemann-Pick Disease Type C, Classic Form
|
|
|
| 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
|
|
|
| Headache |
|
|
| Aceruloplasminemia |
|
Cerebellar Ataxia
|
Hypoceruloplasminemia
|
|
Hemosiderosis, Systemic, Due To Aceruloplasminemia
|
Familial Apoceruloplasmin Deficiency
|
|
Hereditary Ceruloplasmin Deficiency
|
Deficiency Of Ferroxidase
|
|
Hypoceruloplasminemia, Hereditary
|
Ceruloplasmin Deficiency
|
|
Systemic Hemosiderosis Due To Aceruloplasminemia
|
ACERULOP
|
|
|
| Sphingolipidosis |
|
|
| Dystonia |
|
Dystonic Disease
|
Dystonic Disorder
|
|
Dystonia Disorders
|
Neuroleptic Dyskinesia
|
|
|
| Nasopharyngeal Carcinoma |
|
Malignant Neoplasm Of Nasopharynx
|
Npc
|
|
Nasopharyngeal Cancer
|
Nasopharyngeal Carcinoma 1
|
|
Nasopharynx Carcinoma
|
Nasopharyngeal Neoplasms
|
|
Npca
|
Carcinoma Of Nasopharynx
|
|
Malignant Nasopharyngeal Tumor
|
Nasopharynx Cancer
|
|
Squamous Cell Carcinoma Of The Nasopharynx
|
Nasopharyngeal Neoplasm
|
|
Cancer Of Nasopharynx
|
|
|
| Tangier Disease |
|
Analphalipoproteinemia
|
High Density Lipoprotein Deficiency, Tangier Type
|
|
TGD
|
High Density Lipoprotein Deficiency, Type 1
|
|
Hdldt1
|
Familial High Density Lipoprotein Deficiency
|
|
A-Alphalipoprotein Neuropathy
|
Alpha High Density Lipoprotein Deficiency Disease
|
|
Cholesterol Thesaurismosis
|
Familial High Density Lipoprotein Deficiency Disease
|
|
Hdl Lipoprotein Deficiency Disease
|
Tangier Disease Neuropathy
|
|
Familial Alpha-Lipoprotein Deficiency
|
Familial High-Density Lipoprotein Deficiency 1
|
|
Primary Hypoalphalipoproteinemia 1
|
Analphalipo-Proteinemia
|
|
Familial Hypoalphalipo-Proteinemia
|
Familial Hypoalphalipoproteinemia
|
|
Lipoprotein Deficiency Disease, Hdl, Familial
|
Tangier Hereditary Neuropathy
|
|
Atp-Binding Cassette Transporter A1 Deficiency
|
Hdld1
|
|
High Density Lipoprotein Deficiency 1
|
Tangier Disease, Variant
|
|
Hypoalphalipoproteinemia, Familial
|
Familial Hdl Deficiency
|
|
|
| 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
|
|
|
| C Syndrome |
|
Opitz Trigonocephaly Syndrome
|
Trigonocephaly
|
|
Trigonocephaly Syndrome
|
Trigonocephaly C Syndrome
|
|
Opitz C Trigonocephaly
|
Opitz Trigonocephaly C Syndrome
|
|
Otcs
|
CSYN
|
|
|
| Multiple Sulfatase Deficiency |
|
Mucosulfatidosis
|
MSD
|
|
Sulfatidosis, Juvenile, Austin Type
|
Multiple Sulfatase Deficiency Disease
|
|
Juvenile Sulfatidosis, Austin Type
|
Juvenile Sulfatidosis
|
|
Sulfatidosis Juvenile, Austin Type
|
Austin Syndrome
|
|
Sulfatidosis Juvenile Austin Type
|
Sulfatase Deficiency, Multiple
|
|
|
| Dementia |
|
Dementias
|
Presenile Dementia
|
|
Alzheimer Type Dementia
|
Alzheimer Sclerosis
|
|
Alzheimer Disease Dementia
|
Alzheimer Dementia
|
|
Primary Degenerative Alzheimer Type Dementia
|
End Stage Alzheimer'S Dementia
|
|
Alzheimer'S Type Atypical Dementia
|
Alzheimer Type Presenile Dementia
|
|
Early Onset Alzheimer Dementia
|
Dementia In Alzheimer Disease Type 2
|
|
Dementia In Alzheimer Disease With Early Onset
|
Early Onset Alzheimer Type Dementia, Uncomplicated
|
|
Primary Degenerative Alzheimer Type Dementia, Early Onset
|
Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated
|
|
Alzheimer Disease Dementia With Early Onset
|
Presenile Sclerosis
|
|
Presenile Brain Sclerosis
|
Presenile Alzheimer Brain Sclerosis
|
|
Late Onset Alzheimer Dementia
|
Dementia In Alzheimer Disease Type 1
|
|
Dementia In Alzheimer Disease With Late Onset
|
Primary Degenerative Alzheimer Type Dementia, Late Onset
|
|
Sdat - [Senile Dementia, Alzheimer Type]
|
Alzheimer Disease Dementia With Late Onset
|
|
Late Onset Alzheimer Brain Sclerosis
|
Senile Alzheimer Brain Disease
|
|
Senile Alzheimer Brain Sclerosis
|
Senile Primary Degenerative Alzheimer Type Dementia
|
|
Senile Dementia Of The Alzheimer Type
|
Arteriosclerotic Dementia
|
|
Strategic-Infarct Dementia
|
Post Stroke Dementia
|
|
Vascular Cognitive Impairment
|
Vascular Dementia
|
|
Dementia Of The Lewy Body Type
|
Dementia With Lewy Bodies
|
|
Sdlt - [Senile Dementia Of The Lewy Body Type]
|
Senile Dementia Of The Lewy Body Type
|
|
Alcohol-Related Dementia
|
Alcoholic Dementia Nos
|
|
Alcohol-Induced Dementia
|
Alcoholic Brain Syndrome
|
|
Chronic Alcoholic Brain Syndrome
|
Alcohol Dementia
|
|
Late Onset Alcoholic Psychosis
|
Residual And Late-Onset Alcohol-Induced Psychotic Disorder
|
|
Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder
|
Late-Onset Psychoactive Substance-Induced Psychotic Disorder
|
|
Inhalant Dementia
|
Volatile Solvents Dementia
|
|
Dementia In Paralysis Agitans
|
Pdd - [Parkinson Disease Dementia]
|
|
Dementia Syndrome Of Parkinson Disease
|
Dementia In Parkinson Disease
|
|
Parkinson Related Dementia
|
Dementia In Huntington Chorea
|
|
Hiv - [Human Immunodeficiency Virus] Dementia
|
Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex
|
|
Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex
|
Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex
|
|
Aids Related Dementia
|
Dementia Due To Niacin Deficiency
|
|
|
| Niemann-Pick Disease, Type C2 |
|
NPC2
|
Niemann-Pick Disease Type C2
|
|
Niemann-Pick C2 Disease
|
Niemann-Pick Disease C2
|
|
|
| Cerebral Lipidosis |
|
|
| Lysosomal And Lipase Deficiency |
|
|
| Niemann-Pick Disease, Type B |
|
Niemann-Pick Disease Type B
|
Acid Sphingomyelinase Deficiency, Visceral Type
|
|
Asmd, Visceral Type
|
Niemann Pick Disease Type B
|
|
Chronic Visceral Acid Sphingomyelinase Deficiency
|
Chronic Visceral Asmd
|
|
Npd-B
|
Niemann-Pick Disease B
|
|
NPDB
|
Niemann-Pick Disease Adult Non-Neuronopathic Form
|
|
Niemann-Pick Disease Intermediate With Visceral Involvement And Rapid Progression
|
Niemann-Pick Disease Type E
|
|
Niemann-Pick Disease Type F
|
Niemann-Pick Disease Type I
|
|
Niemann-Pick Disease Visceral Form
|
Npb
|
|
Sphingomyelinase Deficiency
|
Sphingomyelin Lipidosis
|
|
Niemann-Picks Disease Type B
|
Niemann-Pick Disease, Type E
|
|
Niemann-Pick Diseases
|
Niemann-Pick Disease, Type A
|
|
|
| Lysosomal Acid Lipase Deficiency |
|
Wolman Disease
|
Cholesteryl Ester Storage Disease
|
|
Lal Deficiency
|
Lipa Deficiency
|
|
Cholesterol Ester Storage Disease
|
CESD
|
|
Cholesterol Ester Hydrolase Deficiency
|
Acid Lipase Deficiency
|
|
Acid Esterase Deficiency
|
Familial Xanthomatosis
|
|
Wolman Xanthomatosis
|
Wolman'S Disease
|
|
Wolman'S Or Triglyceride Storage Type Iii Disease
|
Xanthomatosis, Familial
|
|
Liposomal Acid Lipase Deficiency, Wolman Type
|
Familial Visceral Xanthomatosis
|
|
Primary Familial Xanthomatosis
|
Primary Familial Xanthomatosis With Adrenal Calcification
|
|
Acid Lipase Disease
|
WOD
|
|
Acid Cholesteryl Ester Hydrolase Deficiency, Type 2
|
|
|
| Wilson Disease |
|
Hepatolenticular Degeneration
|
WD
|
|
Wilson'S Disease
|
WND
|
|
Westphal-Strumpell Syndrome
|
Copper Storage Disease
|
|
Cerebral Pseudosclerosis
|
Westphal Pseudosclerosis
|
|
Hepatolenticular Degeneration Syndrome
|
Copper Retention
|
|
Hepatocerebral Degeneration
|
Kinnier-Wilson Disease
|
|
Neurohepatic Degeneration
|
Progressive Hepatolenticular Degeneration
|
|
Lenticular Degenerative Disease
|
Wilson'S Syndrome
|
|
Lenticular Syndrome
|
|
|
| Lysosomal Storage Disease |
|
Lysosomal Storage Diseases
|
Disorder Of Lysosomal Enzyme
|
|
Inborn Lysosomal Enzyme Disorder
|
Lysosomal Storage Metabolism Disorder
|
|
Lysosomal Storage Disorder
|
|
|
| Marburg Hemorrhagic Fever |
|
Marburg Virus Disease
|
Marburg Disease
|
|
Green Monkey Disease
|
Mhf
|
|
Vervet Monkey Disease
|
Mard - [Marburg Disease]
|
|
Mvd - [Marburg Virus Disease]
|
Marburg Haemorrhagic Fever
|
|
Mhf - [Marburg Haemorrhagic Fever]
|
|
|
| Narcolepsy 1 |
|
NRCLP1
|
Narcoleptic Syndrome 1
|
|
Gelineau Disease
|
Narcolepsy-Cataplexy
|
|
Narcolepsy-Cataplexy Syndrome
|
Narcolepsy, Type 1
|
|
Narcolepsy Type 1
|
Cataplexy
|
|
Gélineau'S Syndrome
|
Narcolepsy With Cataplexy And/Or Hypocretin Deficiency
|
|
|
| Ebola Hemorrhagic Fever |
|
Ebola Virus Disease
|
Viral Hemorrhagic Fever
|
|
Hemorrhagic Fever, Ebola
|
Ebola
|
|
Ehf
|
Ebola Fever
|
|
Hemorrhagic Fevers, Viral
|
Ebola Haemorrhagic Fever
|
|
Ebod - [Ebola Disease]
|
Evd - [Ebola Virus Disease]
|
|
Ebola Virus Haemorrhagic Fever
|
Vhf - [Viral Haemorrhagic Fever] Nos
|
|
Viral Haemorrhagic Fever, Not Otherwise Specified
|
|
|
| Gm2 Gangliosidosis |
|
Gangliosidosis Gm2
|
Gangliosidoses, Gm2
|
|
|
| Mucolipidosis Iv |
|
Mucolipidosis Type Iv
|
ML4
|
|
Sialolipidosis
|
Mucolipidosis Type 4
|
|
Ganglioside Sialidase Deficiency
|
Mliv
|
|
Ml Iv
|
Berman Syndrome
|
|
Ganglioside Neuraminidase Deficiency
|
Ml 4
|
|
Mucolipidosis 4
|
Type Iv Mucolipidosis
|
|
Gangliosidoses
|
|
|
| Niemann-Pick Disease, Type A |
|
Niemann-Pick Disease Type A
|
Sphingomyelin Lipidosis
|
|
Sphingomyelinase Deficiency
|
Niemann-Pick Disease, Intermediate, Protracted Neurovisceral
|
|
Acid Sphingomyelinase Deficiency, Neurovisceral Type
|
Asmd, Neurovisceral Type
|
|
Infantile Neurovisceral Acid Sphingomyelinase Deficiency
|
Infantile Neurovisceral Asmd
|
|
Npd-A
|
Niemann-Pick Disease A
|
|
NPDA
|
Classical Niemann-Pick Disease
|
|
Niemann-Pick Disease Acute Neuronopathic Form
|
Niemann-Pick Disease Acute Neurovisceral Form
|
|
Niemann-Pick Disease Classical Infantile Form
|
Niemann-Pick Disease Intermediate Protracted Neurovisceral
|
|
Niemann-Pick Disease Neuronopathic Type
|
Niemann-Pick Disease Type I
|
|
Npa
|
Niemann-Pick Diseases
|
|
|
| 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
|
|
|
| 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]
|
|
|
| Gangliosidosis |
|
|
| Farber Lipogranulomatosis |
|
Farber Disease
|
Acid Ceramidase Deficiency
|
|
Ceramidase Deficiency
|
Ac Deficiency
|
|
N-Laurylsphingosine Deacylase Deficiency
|
Farber'S Disease
|
|
FRBRL
|
Farber'S Lipogranulomatosis
|
|
Acylsphingosine Deacylase Deficiency
|
Farber-Uzman Syndrome
|
|
Acy
|
|
|
| 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
|
|
|
| Mucolipidosis |
|
|
| 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
|
|
|
| Gaucher Disease, Perinatal Lethal |
|
Gaucher Disease Perinatal Lethal
|
Gaucher Disease, Collodion Type
|
|
Gaucher'S Disease Perinatal Lethal
|
Fetal Gaucher Disease
|
|
Perinatal Lethal Gaucher Disease
|
Gaucher Disease Collodion Type
|
|
Gaucher Disease, Perinatal-Lethal Form
|
GDPL
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Neonatal Jaundice |
|
Neonatal Hyperbilirubinemia
|
Neonatal Icterus
|
|
Jaundice Neonatal
|
Jaundice, Neonatal
|
|
Hyperbilirubinemia, Neonatal
|
|
|
| Mucopolysaccharidosis, Type Iiia |
|
Mucopolysaccharidosis Type Iiia
|
MPS3A
|
|
Mps Iiia
|
Sanfilippo Syndrome A
|
|
Heparan Sulfate Sulfatase Deficiency
|
Sulfamidase Deficiency
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Heparan Sulfamidase Deficiency
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Mpsiiia
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Mucopolysaccharidosis Type 3a
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Sanfilippo Syndrome Type A
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Mucopolysaccharidosis Iii-A
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Heparane Sulfamidase Deficiency
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Mps 3a
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Mucopoly-Saccharidosis Type 3a
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Mps Iii-A
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Mucopolysaccharidosis 3a
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Mucopolysaccharidosis Iii
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| Spinocerebellar Ataxia, Autosomal Recessive 20 |
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Autosomal Recessive Spinocerebellar Ataxia 20
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SCAR20
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Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
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Autosomal Recessive Spinocerebellar Ataxia Type 20
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Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypoplasia Syndrome
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Spinocerebellar Ataxia, Autosomal Recessive, 20
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Ataxia, Spinocerebellar, Autosomal Recessive, Type 20
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| Gaucher'S Disease |
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Gaucher Disease
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Kerasin Thesaurismosis
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Glucocerebrosidase Deficiency
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Glucosylceramidase Deficiency
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Cerebroside Lipidosis Syndrome
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Acid Beta-Glucosidase Deficiency
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Glucosylceramide Beta-Glucosidase Deficiency
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Acute Cerebral Gaucher Disease
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Gaucher Splenomegaly
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Glucocerebrosidosis
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Glucosyl Cerebroside Lipidosis
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Kerasin Lipoidosis
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Lipoid Histiocytosis
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Glocucerebrosidase Deficiency
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Sphingolipidosis 1
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Gaucher Syndrome
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Gauchers Disease
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Gd
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Glucosylceramide Lipidosis
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Kerasin Histiocytosis
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Gaucher Disease, Type 1
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Gaucher Disease, Type 2
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| Obstructive Jaundice |
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Jaundice, Obstructive
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Cholestatic Jaundice
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Cholestatic Jaundice Syndrome
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Obstructive Hyperbilirubinemia
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Jaundice Obstructive
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Jaundice Cholestatic
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| Mucopolysaccharidosis-Plus Syndrome |
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Mucopolysaccharidosis
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Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
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MPSPS
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Mucopolysaccharidoses
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Mps
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Mucopolysaccharidosis-Like Plus Disease
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Disorders Of Glycosaminoglycan Metabolism
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| Neuroaxonal Dystrophy |
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| Metachromatic Leukodystrophy |
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Arylsulfatase A Deficiency
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MLD
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Arsa Deficiency
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Sulfatide Lipidosis
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Metachromatic Leukoencephalopathy
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Cerebral Sclerosis, Diffuse, Metachromatic Form
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Cerebroside Sulfatase Deficiency
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Leukodystrophy, Metachromatic
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Pseudoarylsulfatase A Deficiency
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Leukodystrophy Metachromatic
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Sulfatidosis
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Metachromatic Leukodystrophy, Late Infantile
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Metachromatic Leukodystrophy Variant
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Deficiency Of Cerebroside-Sulfatase
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Scholz Cerebral Sclerosis
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Sulfatide Lipoidosis
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Cerebral Sclerosis Diffuse Metachromatic Form
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Arylsulfatase A Deficiency Disease
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Cerebroside Sulphatase Deficiency Disease
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Greenfield Disease
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Metachromatic Leukodystrophy, Adult
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Metachromatic Leukodystrophy, Juvenile
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Leukodystrophy Metachromatic Adult
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Leukodystrophy Metachromatic Juvenile
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Leukodystrophy Metachromatic Late Infantile
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Metachromatic Leukodystrophy, Adult Type
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Metachromatic Leukodystrophy, Juvenile Type
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Metachromatic Leukodystrophy, Infant
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Greenfield'S Disease
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| Neuronal Ceroid Lipofuscinosis |
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Hereditary Ceroid Lipofuscinosis
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Batten Disease
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Ncl
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Neuronal Ceroid-Lipofuscinoses
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Lipofuscinosis, Ceroid, Neuronal
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Juvenile Neuronal Ceroid Lipofuscinosis
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Cerebromacular Dystrophy
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Cerebromacular Degeneration
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Ceroid-Lipofuscinosis
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Ncl - [Neuronal Ceroid Lipofuscinosis]
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Amaurotic Familial Idiocy
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Amaurotic Idiocy
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Amaurotic Idiot
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Neuronal Lipofuscinosis
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Pigmentary Retinal Lipoid Neuronal Heredodegeneration
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| Ceroid Lipofuscinosis, Neuronal, 3 |
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Batten Disease
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Juvenile Neuronal Ceroid Lipofuscinosis
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Neuronal Ceroid Lipofuscinosis 3
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CLN3
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Jncl
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Spielmeyer-Vogt Disease
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Vogt-Spielmeyer Disease
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Spielmeyer-Sjogren Disease
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Cln3 Disease
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Neuronal Ceroid Lipofuscinosis, Juvenile
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Cln3 Disease, Juvenile
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Spielmeyer Sjogren Disease
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Vogt Spielmeyer Disease
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Batten-Mayou Disease
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Batten-Spielmeyer-Vogt Disease
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Cln3-Related Neuronal Ceroid-Lipofuscinosis
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Juvenile Batten Disease
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Juvenile Cerebroretinal Degeneration
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Classic Juvenile Ncl
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Classic Juvenile Neuronal Ceroid Lipofuscinosis
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Juvenile Ncl
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Lipofuscinosis, Ceroid, Neuronal, Type 3
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| Aspiration Pneumonia |
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Pneumonia, Aspiration
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Pneumonia Aspiration
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Aspiration Pneumonitis
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| Lassa Fever |
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Lf
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Lassa Hemorrhagic Fever
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Lf - [Lassa Fever]
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| Pigmentation Disease |
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Pigmentation Disorders
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Skin Pigmentation Disorder
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| Pick Disease Of Brain |
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Pick Disease
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Pick'S Disease
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Pick Disease Of The Brain
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Lobar Atrophy Of Brain
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Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions
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Behavioral Variant Of Frontotemporal Dementia
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Dementia In Pick'S Disease
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Lobar Atrophy Of The Brain
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Bvftd
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Bv-Ftd
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PIDB
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Picks Disease
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| Smith-Lemli-Opitz Syndrome |
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SLOS
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Rsh Syndrome
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7-Dehydrocholesterol Reductase Deficiency
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Slo Syndrome
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Rutledge Lethal Multiple Congenital Anomaly Syndrome
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Lethal Acrodysgenital Syndrome
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Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung
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Smith-Opitz-Inborn Syndrome
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Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobular Lung
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Smith Lemli Opitz Syndrome
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Smith-Lemli-Opitz Syndrome, Type Ii
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| Mucopolysaccharidosis, Type Ii |
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Hunter Syndrome
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Iduronate 2-Sulfatase Deficiency
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Mucopolysaccharidosis Ii
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Mps Ii
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Mucopolysaccharidosis Type Ii
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MPS2
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Sulfoiduronate Sulfatase Deficiency
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Mucopolysaccharidosis, Mps-Ii
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Ids Deficiency
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Sids Deficiency
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I2s Deficiency
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Mucopolysaccharidosis Type 2
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Mucopolysaccharidosis Type 2, Severe Form
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Deficiency Of Iduronate-2-Sulphatase
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Hunter'S Syndrome
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Mps Ii - Hunter Syndrome
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Iduronate-2-Sulfatase Deficiency
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Attenuated Mps
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Mps 2
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Severe Mps Ii
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Mpsii
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Mucopolysaccharidosis Type 2, Attenuated Form
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Hunter Syndrome Type B
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Iduronate 2-Sulfatase Deficiency Type B
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Mps2b
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Mpsiib
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Mucopolysaccharidosis Type 2b
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Mucopolysaccharidosis Type Ii, Attenuated Form
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Mucopolysaccharidosis Type Iib
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Hunter Syndrome Type A
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Iduronate 2-Sulfatase Deficiency Type A
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Mps2a
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Mpsiia
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Mucopolysaccharidosis Type 2a
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Mucopolysaccharidosis Type Ii, Severe Form
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Mucopolysaccharidosis Type Iia
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Mucopolysaccharidosis 2
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Hunters Syndrome
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Iduronate 2-Sulphatase Deficiency
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Iduronate Sulfatase Deficiency
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Iduronate Sulphatase Deficiency
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Sulfo-Iduronate Sulfatase Deficiency
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Sulfoiduronidate Sulfatase Deficiency
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Sulpho-Iduronate Sulphatase Deficiency
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Sulphoiduronidate Sulphatase Deficiency
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Mps2 - [Mucopolysaccharidosis 2]
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| Cerebellar Disease |
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Cerebellar Diseases
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Cerebellar Dysfunction
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Cerebellar Abnormality
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Cerebellar Disorders
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| Alzheimer Disease, Familial, 1 |
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Alzheimer Disease
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Alzheimer'S Disease
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Presenile And Senile Dementia
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AD1
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Alzheimer Disease, Susceptibility To
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Alzheimer Disease, Late-Onset, Susceptibility To
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Alzheimer Disease 1, Familial
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AD
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Familial Alzheimer Disease
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Alzheimer Disease, Late-Onset
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Alzheimers Dementia
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Alzheimer Dementia
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Alzheimer Sclerosis
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Alzheimer Syndrome
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Alzheimer-Type Dementia
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Dat
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Primary Senile Degenerative Dementia
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Sdat
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Alzheimer Disease 1
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Autosomal Dominant Alzheimer Disease
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Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy
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Late Onset Alzheimer Disease
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Alzheimers Disease
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Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
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Late-Onset Alzheimers Disease
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Alzheimer'S Disease Pathway Kegg
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Dementia Due To Alzheimer'S Disease
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Alzheimer Disease Type 1
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Alzheimers
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| Parkinson Disease, Late-Onset |
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Parkinson Disease
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Parkinson'S Disease
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PD
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PARK
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Parkinson Disease, Susceptibility To
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Late Onset Parkinson'S Disease
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Late Onset Parkinson Disease
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Paralysis Agitans
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Primary Parkinsonism
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Idiopathic Parkinson Disease
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Parkinson'S
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Parkinson Disease, Late-Onset, Susceptibility To
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Parkinson Disease, Age Of Onset, Modifier
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Lewy Body Parkinson Disease
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Idiopathic Parkinson'S Disease
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Pd - [Parkinson Disease]
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Parkinson Disease Nos
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Parkinson, Nos
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Primary Parkinson Disease
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| Hereditary Spastic Paraplegia |
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Familial Spastic Paraplegia
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Hereditary Spastic Paraparesis
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Strumpell-Lorrain Disease
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Familial Spastic Paraparesis
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Hsp
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Spg
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Strümpell-Lorrain Disease
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Spastic Paraplegia, Hereditary
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French Settlement Disease
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Strumpell-Lorrain Syndrome
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Fsp
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Spastic Paraplegia, Familial
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Spastic Paraplegia Hereditary
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Spastic Paraplegia 3, Autosomal Dominant
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Spastic Paraparesis
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Hereditary Spastic Paralysis
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Familial Spastic Paralysis
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Hereditary Spastic Ataxia
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