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Experimental Factor Ontology
Last uploaded:
January 16, 2025
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| Preferred Name | X-linked adrenoleukodystrophy | |
| Synonyms |
X-linked ALD ALD X-ALD |
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| Definitions |
X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_43 |
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| database_cross_reference |
UMLS:C0162309 OMIM:300100 ICD10:E71.3 MeSH:D000326 MedDRA:10051260 OMIM:302700
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|
| definition |
X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency.
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| definition_citation |
orphanet
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|
| has_exact_synonym |
X-linked ALD ALD X-ALD
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|
| label |
X-linked adrenoleukodystrophy
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| preferred label |
X-linked adrenoleukodystrophy
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| prefLabel |
X-linked adrenoleukodystrophy
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| subClassOf |
http://www.orpha.net/ORDO/Orphanet_98543 http://www.orpha.net/ORDO/Orphanet_183500 http://www.orpha.net/ORDO/Orphanet_101960 |
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