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 X-Linked Adrenoleukodystrophy 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 |
|
closeMatch | ||
database_cross_reference |
MESH:D000326 Orphanet:43 OMIM:300100 DOID:10588 GARD:5758 ICD9:341.1 NCIT:C61252 SCTID:49692006 MedDRA:10051260 NORD:736 UMLS:C0007795 |
|
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. |
|
exactMatch |
http://identifiers.org/mesh/D000326 http://purl.obolibrary.org/obo/Orphanet_43 |
|
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 X-Linked Adrenoleukodystrophy 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 | ||
id |
MONDO:0018544 |
|
in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare |
|
label |
adrenoleukodystrophy |
|
notation |
MONDO:0018544 |
|
prefLabel |
adrenoleukodystrophy |
|
excluded_subClassOf | ||
subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015547 http://purl.obolibrary.org/obo/MONDO_0000425 http://www.ebi.ac.uk/efo/EFO_0005539 |