loading...| Preferred Name |
adrenoleukodystrophy |
|
| Synonyms |
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 diffuse sclerosis |
|
| 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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0018544 |
|
| 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 |
|
| has_related_synonym |
diffuse sclerosis |
|
| IAO_0000233 | ||
| label |
adrenoleukodystrophy |
|
| prefixIRI |
MONDO:0018544 |
|
| prefLabel |
adrenoleukodystrophy |
|
| 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. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015547 http://purl.obolibrary.org/obo/MONDO_0000425 http://purl.obolibrary.org/obo/MONDO_0005495 |