| D007223 |
Infant |
A child between 1 and 23 months of age. |
Infants |
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| D007965 |
Leukodystrophy, Globoid Cell |
An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses. |
Diffuse Globoid Body Sclerosis,Galactosylceramidase Deficiency Disease,Krabbe Disease,Classic Globoid Cell Leukodystrophy,Early-Onset Globoid Cell Leukodystrophy,GALC Deficiency,Galactocerebrosidase Deficiency,Galactosylceramide Lipidosis,Galactosylceramide beta-Galactosidase Deficiency,Galactosylceramide-beta-Galactosidase Deficiency Disease,Galactosylcerebrosidase Deficiency,Galactosylsphingosine Lipidosis,Globoid Body Sclerosis, Diffuse,Globoid Cell Leukodystrophy,Globoid Cell Leukoencephalopathy,Globoid Leukodystrophy,Infantile Globoid Cell Leukodystrophy,Krabbe Leukodystrophy,Krabbe's Disease,Krabbe's Leukodystrophy,Late-Onset Globoid Cell Leukodystrophy,Leukodystrophy, Globoid Cell, Classic,Leukodystrophy, Globoid Cell, Early-Onset,Leukodystrophy, Globoid Cell, Infantile,Leukodystrophy, Globoid Cell, Late-Onset,Psychosine Lipidosis,Cell Leukodystrophies, Globoid,Cell Leukodystrophy, Globoid,Cell Leukoencephalopathies, Globoid,Cell Leukoencephalopathy, Globoid,Deficiencies, GALC,Deficiencies, Galactocerebrosidase,Deficiencies, Galactosylceramide beta-Galactosidase,Deficiency Disease, Galactosylceramidase,Deficiency Disease, Galactosylceramide-beta-Galactosidase,Deficiency Diseases, Galactosylceramidase,Deficiency Diseases, Galactosylceramide-beta-Galactosidase,Deficiency, GALC,Deficiency, Galactocerebrosidase,Deficiency, Galactosylceramide beta-Galactosidase,Disease, Galactosylceramidase Deficiency,Disease, Galactosylceramide-beta-Galactosidase Deficiency,Diseases, Galactosylceramidase Deficiency,Diseases, Galactosylceramide-beta-Galactosidase Deficiency,Early Onset Globoid Cell Leukodystrophy,GALC Deficiencies,Galactocerebrosidase Deficiencies,Galactosylceramidase Deficiency Diseases,Galactosylceramide beta Galactosidase Deficiency,Galactosylceramide beta Galactosidase Deficiency Disease,Galactosylceramide beta-Galactosidase Deficiencies,Galactosylceramide-beta-Galactosidase Deficiency Diseases,Globoid Cell Leukodystrophies,Globoid Cell Leukoencephalopathies,Globoid Leukodystrophies,Krabbes Disease,Krabbes Leukodystrophy,Late Onset Globoid Cell Leukodystrophy,Leukodystrophies, Globoid,Leukodystrophies, Globoid Cell,Leukodystrophy, Globoid,Leukodystrophy, Krabbe,Leukodystrophy, Krabbe's,Leukoencephalopathies, Globoid Cell,Leukoencephalopathy, Globoid Cell,beta-Galactosidase Deficiencies, Galactosylceramide,beta-Galactosidase Deficiency, Galactosylceramide |
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| D007966 |
Leukodystrophy, Metachromatic |
An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms. |
Arylsulfatase A Deficiency Disease,Cerebroside Sulphatase Deficiency Disease,ARSA Deficiency,Arylsulfatase A Deficiency,Cerebral sclerosis, Diffuse, Metachromatic Form,Cerebroside Sulfatase Deficiency,Greenfield Disease,Greenfield's Disease,Leukodystrophy, Metachromatic, Adult,Leukodystrophy, Metachromatic, Juvenile,Metachromatic Leukodystrophy,Metachromatic Leukodystrophy, Adult,Metachromatic Leukodystrophy, Adult-Type,Metachromatic Leukodystrophy, Infant,Metachromatic Leukodystrophy, Infant-Type,Metachromatic Leukodystrophy, Juvenile,Metachromatic Leukodystrophy, Juvenile-Type,Metachromatic Leukodystrophy, Late Infantile,Metachromatic Leukoencephalopathy,Sulfatide Lipidosis,ARSA Deficiencies,Adult Metachromatic Leukodystrophies,Adult Metachromatic Leukodystrophy,Adult-Type Metachromatic Leukodystrophies,Adult-Type Metachromatic Leukodystrophy,Arylsulfatase A Deficiencies,Cerebroside Sulfatase Deficiencies,Deficiencies, ARSA,Deficiencies, Arylsulfatase A,Deficiencies, Cerebroside Sulfatase,Deficiency, ARSA,Deficiency, Arylsulfatase A,Deficiency, Cerebroside Sulfatase,Infant Metachromatic Leukodystrophies,Infant Metachromatic Leukodystrophy,Infant-Type Metachromatic Leukodystrophies,Infant-Type Metachromatic Leukodystrophy,Juvenile Metachromatic Leukodystrophies,Juvenile Metachromatic Leukodystrophy,Juvenile-Type Metachromatic Leukodystrophies,Juvenile-Type Metachromatic Leukodystrophy,Leukodystrophies, Adult Metachromatic,Leukodystrophies, Adult-Type Metachromatic,Leukodystrophies, Juvenile Metachromatic,Leukodystrophies, Juvenile-Type Metachromatic,Leukodystrophies, Metachromatic,Leukodystrophy, Adult Metachromatic,Leukodystrophy, Adult-Type Metachromatic,Leukodystrophy, Juvenile Metachromatic,Leukodystrophy, Juvenile-Type Metachromatic,Leukoencephalopathies, Metachromatic,Leukoencephalopathy, Metachromatic,Lipidosis, Sulfatide,Metachromatic Leukodystrophies,Metachromatic Leukodystrophies, Adult,Metachromatic Leukodystrophies, Adult-Type,Metachromatic Leukodystrophies, Infant,Metachromatic Leukodystrophies, Infant-Type,Metachromatic Leukodystrophies, Juvenile,Metachromatic Leukodystrophies, Juvenile-Type,Metachromatic Leukodystrophy, Adult Type,Metachromatic Leukodystrophy, Infant Type,Metachromatic Leukodystrophy, Juvenile Type,Metachromatic Leukoencephalopathies,Sulfatase Deficiencies, Cerebroside,Sulfatase Deficiency, Cerebroside |
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| D007968 |
Leukoencephalopathy, Progressive Multifocal |
An opportunistic viral infection of the central nervous system associated with conditions that impair cell-mediated immunity (e.g., ACQUIRED IMMUNODEFICIENCY SYNDROME and other IMMUNOLOGIC DEFICIENCY SYNDROMES; HEMATOLOGIC NEOPLASMS; IMMUNOSUPPRESSION; and COLLAGEN DISEASES). The causative organism is JC Polyomavirus (JC VIRUS) which primarily affects oligodendrocytes, resulting in multiple areas of demyelination. Clinical manifestations include DEMENTIA; ATAXIA; visual disturbances; and other focal neurologic deficits, generally progressing to a vegetative state within 6 months. (From Joynt, Clinical Neurology, 1996, Ch26, pp36-7) |
Encephalitis, JC Polyomavirus,Progressive Multifocal Leukoencephalopathy,JC Polyomavirus Encephalopathy,Encephalopathies, JC Polyomavirus,Encephalopathy, JC Polyomavirus,JC Polyomavirus Encephalitis,Leukoencephalopathies, Progressive Multifocal,Multifocal Leukoencephalopathies, Progressive,Multifocal Leukoencephalopathy, Progressive,Progressive Multifocal Leukoencephalopathies |
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| D008297 |
Male |
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Males |
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| D009103 |
Multiple Sclerosis |
An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur. (Adams et al., Principles of Neurology, 6th ed, p903) |
MS (Multiple Sclerosis),Multiple Sclerosis, Acute Fulminating,Sclerosis, Disseminated,Disseminated Sclerosis,Sclerosis, Multiple |
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| D001927 |
Brain Diseases |
Pathologic conditions affecting the BRAIN, which is composed of the intracranial components of the CENTRAL NERVOUS SYSTEM. This includes (but is not limited to) the CEREBRAL CORTEX; intracranial white matter; BASAL GANGLIA; THALAMUS; HYPOTHALAMUS; BRAIN STEM; and CEREBELLUM. |
Intracranial Central Nervous System Disorders,Brain Disorders,CNS Disorders, Intracranial,Central Nervous System Disorders, Intracranial,Central Nervous System Intracranial Disorders,Encephalon Diseases,Encephalopathy,Intracranial CNS Disorders,Brain Disease,Brain Disorder,CNS Disorder, Intracranial,Encephalon Disease,Encephalopathies,Intracranial CNS Disorder |
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| D002675 |
Child, Preschool |
A child between the ages of 2 and 5. |
Children, Preschool,Preschool Child,Preschool Children |
|
| D003711 |
Demyelinating Diseases |
Diseases characterized by loss or dysfunction of myelin in the central or peripheral nervous system. |
Clinically Isolated CNS Demyelinating Syndrome,Clinically Isolated Syndrome, CNS Demyelinating,Demyelinating Disorders,Demyelination,Demyelinating Disease,Demyelinating Disorder,Demyelinations |
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| D005260 |
Female |
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Females |
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