JSON

adrenoleukodystrophy

^ 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 ]

Term info

database cross reference
  • MedDRA:10051260 (Orphanet:43/e)
  • Orphanet:43 (MONDO:equivalentTo)
  • DOID:10588 (MONDO:equivalentTo)
  • ICD9:341.1 (MONDO:relatedTo)
  • OMIM:300100 (Orphanet:43/e)
  • UMLS:C0007795 (MONDO:relatedTo)
  • SCTID:49692006 (MONDO:relatedTo)
  • GARD:0005758 (MONDO:equivalentTo)
  • NCIT:C61252 (MONDO:equivalentTo)
  • MESH:D000326 (Orphanet:43/e)
Subsets

ordo_disease

abbreviation
ALD [ Orphanet:43 DOID:10588 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/2632, https://github.com/monarch-initiative/mondo/issues/4521

closeMatch

http://identifiers.org/meddra/10051260

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://purl.obolibrary.org/obo/Orphanet_43, https://omim.org/entry/300100, 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 exact synonym

sudanophilic cerebral sclerosis, Siemerling-Creutzfeldt disease, encephalitis periaxialis concentrica, X-linked adrenoleukodystrophy, adrenomyeloneuropathy, adult, X-linked recessive, Bronze-Schilder disease, X-ALD, 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

has related synonym

diffuse sclerosis

id

MONDO:0018544