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Cell Cycle Ontology
Last uploaded:
June 26, 2014
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Preferred Name | Leukodystrophy metachromatic | |
Synonyms |
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Definitions |
(MLD): A leukodystrophy due to a lysosomal storage defect. Characterized by intralysosomal storage of cerebroside-3-sulfate in neural and non- neural tissues, with a diffuse loss of myelin in the central nervous system. Progressive demyelination causes a variety of neurological symptoms, including gait disturbances, ataxias, optical atrophy, dementia, seizures, and spastic tetraparesis. Three forms of the disease can be distinguished according to the age at onset: late-infantile, juvenile and adult. |
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ID |
http://purl.obolibrary.org/obo/OMIM_250100 |
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definition |
(MLD): A leukodystrophy due to a lysosomal storage defect. Characterized by intralysosomal storage of cerebroside-3-sulfate in neural and non- neural tissues, with a diffuse loss of myelin in the central nervous system. Progressive demyelination causes a variety of neurological symptoms, including gait disturbances, ataxias, optical atrophy, dementia, seizures, and spastic tetraparesis. Three forms of the disease can be distinguished according to the age at onset: late-infantile, juvenile and adult.
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has_obo_namespace |
cell_cycle_ontology
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id |
OMIM:250100
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label |
Leukodystrophy metachromatic
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notation |
OMIM:250100
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prefLabel |
Leukodystrophy metachromatic
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treeView | ||
subClassOf |
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