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. [ Orphanet:43 ]
Synonyms: sudanophilic cerebral sclerosis Siemerling-Creutzfeldt disease encephalitis periaxialis concentrica X-Linked Adrenoleukodystrophy X-linked adrenoleukodystrophy X-ALD adrenomyeloneuropathy, adult, X-linked recessive Bronze-Schilder disease adrenoleukodystrophy, X-linked X-linked ALD ABCD1 deficiency adrenoleukodystrophy diffuse cerebral sclerosis of Schilder encephalitis periaxialis, Schilder's ALD adrenoleukodystrophy, X-linked recessive adrenomyeloneuropathy, adult
Term information
- MedDRA:10051260 (Orphanet:43/e)
- NCIT:C61252 (MONDO:equivalentTo)
- Orphanet:43 (MONDO:equivalentTo)
- SCTID:49692006 (MONDO:relatedTo)
- NANDO:1200165 (https://orcid.org/0000-0003-0011-764X)
- MESH:D000326 (Orphanet:43/e)
- NANDO:2200576 (https://orcid.org/0000-0003-0011-764X)
- UMLS:C0162309 (MONDO:equivalentTo)
- NORD:736 (MONDO:NORD)
- OMIM:300100 (Orphanet:43/e)
- MEDGEN:57667 (MONDO:equivalentTo)
- ICD9:341.1 (MONDO:relatedTo)
- DOID:10588 (MONDO:equivalentTo)
- GARD:5758 (MONDO:GARD)
ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare, clingen
https://github.com/monarch-initiative/mondo/issues/2632
https://github.com/monarch-initiative/mondo/issues/4521
https://omim.org/entry/300100
http://www.orpha.net/ORDO/Orphanet_43
http://linkedlifedata.com/resource/umls/id/C0162309
http://identifiers.org/medgen/57667
http://purl.obolibrary.org/obo/DOID_10588
http://identifiers.org/mesh/D000326
http://purl.obolibrary.org/obo/NCIT_C61252
http://purl.obolibrary.org/obo/MONDO_0015129
http://purl.obolibrary.org/obo/MONDO_0019233