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Regulation of Transcription Ontology
Last uploaded:
December 4, 2018
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| Preferred Name | Adrenoleukodystrophy | |
| Synonyms |
ALD |
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| Definitions |
(ALD) - A peroxisomal metabolic disorder characterized by progressive multifocal demyelination of the central nervous system and by peripheral adrenal insufficiency (Addison disease). It results in mental deterioration, corticospinal tract dysfunction, and cortical blindness. Different clinical manifestations exist like - cerebral childhood ALD (CALD), adult cerebral ALD (ACALD), adrenomyeloneuropathy (AMN) and 'Addison disease only' (ADO) phenotype. |
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| ID |
http://identifiers.org/omim/300100 |
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| altLabel |
ALD
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| definition |
(ALD) - A peroxisomal metabolic disorder characterized by progressive multifocal demyelination of the central nervous system and by peripheral adrenal insufficiency (Addison disease). It results in mental deterioration, corticospinal tract dysfunction, and cortical blindness. Different clinical manifestations exist like - cerebral childhood ALD (CALD), adult cerebral ALD (ACALD), adrenomyeloneuropathy (AMN) and 'Addison disease only' (ADO) phenotype.
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| id |
OMIM:300100
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| notation |
OMIM:300100
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| prefLabel |
Adrenoleukodystrophy
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| subClassOf |
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