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ABCD1 deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0018544

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 Bronze-Schilder disease X-ALD adrenomyeloneuropathy, adult, X-linked recessive 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

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:10588 (MONDO:equivalentTo)
  • NCIT:C61252 (MONDO:equivalentTo)
  • OMIM:300100 (Orphanet:43/e)
  • UMLS:C0007795 (MONDO:relatedTo)
  • Orphanet:43 (MONDO:equivalentTo)
  • NORD:736 (MONDO:NORD)
  • GARD:5758 (Orphanet:43)
  • MedDRA:10051260 (Orphanet:43/e)
  • ICD9:341.1 (MONDO:relatedTo)
  • SCTID:49692006 (MONDO:relatedTo)
  • MESH:D000326 (Orphanet:43/e)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/2632

https://github.com/monarch-initiative/mondo/issues/4521

closeMatch

http://identifiers.org/meddra/10051260

exactMatch

https://omim.org/entry/300100

http://www.orpha.net/ORDO/Orphanet_43

http://purl.obolibrary.org/obo/DOID_10588

http://purl.obolibrary.org/obo/NCIT_C61252

http://identifiers.org/mesh/D000326

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015129

http://purl.obolibrary.org/obo/MONDO_0019233

has related synonym

diffuse sclerosis

id

MONDO:0018544

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0018544