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Digital medicine Outcomes Value Set (DOVeS) Ontology
| Preferred Name | adrenoleukodystrophy | |
| Synonyms |
diffuse sclerosis adrenoleukodystrophy, X-linked recessive Bronze-Schilder disease X-linked adrenoleukodystrophy encephalitis periaxialis, Schilder's diffuse cerebral sclerosis of Schilder adrenomyeloneuropathy, adult, X-linked recessive Siemerling-Creutzfeldt disease encephalitis periaxialis concentrica X-linked ALD adrenoleukodystrophy, X-linked adrenoleukodystrophy X-ALD ALD ABCD1 deficiency sudanophilic cerebral sclerosis adrenomyeloneuropathy, adult |
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| Definitions |
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://purl.obolibrary.org/obo/MONDO_0018544 |
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| altLabel |
diffuse sclerosis adrenoleukodystrophy, X-linked recessive Bronze-Schilder disease X-linked adrenoleukodystrophy encephalitis periaxialis, Schilder's diffuse cerebral sclerosis of Schilder adrenomyeloneuropathy, adult, X-linked recessive Siemerling-Creutzfeldt disease encephalitis periaxialis concentrica X-linked ALD adrenoleukodystrophy, X-linked adrenoleukodystrophy X-ALD ALD ABCD1 deficiency sudanophilic cerebral sclerosis adrenomyeloneuropathy, adult
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|
| definition |
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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| has_exact_synonym |
adrenoleukodystrophy, X-linked recessive Bronze-Schilder disease X-linked adrenoleukodystrophy encephalitis periaxialis, Schilder's diffuse cerebral sclerosis of Schilder adrenomyeloneuropathy, adult, X-linked recessive Siemerling-Creutzfeldt disease encephalitis periaxialis concentrica X-linked ALD adrenoleukodystrophy, X-linked adrenoleukodystrophy X-ALD ALD ABCD1 deficiency sudanophilic cerebral sclerosis adrenomyeloneuropathy, adult
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| has_related_synonym |
diffuse sclerosis
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| IAO_0000233 | ||
| label |
adrenoleukodystrophy
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| prefixIRI |
MONDO:0018544
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|
| prefLabel |
adrenoleukodystrophy
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| textual definition |
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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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015547 http://purl.obolibrary.org/obo/MONDO_0000425 http://purl.obolibrary.org/obo/MONDO_0005495 |
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