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Mondo Disease Ontology
| Preferred Name | adrenoleukodystrophy | |
| Synonyms |
diffuse sclerosis 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 |
|
| 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 |
|
| curated content resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0018544 |
|
| database_cross_reference |
MEDGEN:57667 NANDO:1200165 MESH:D000326 UMLS:C0162309 icd11.foundation:1085655586 Orphanet:43 OMIM:300100 DOID:10588 GARD:5758 ICD9:341.1 NCIT:C61252 NANDO:2200576 SCTID:49692006 MedDRA:10051260 NORD:736
|
|
| 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.
|
|
| 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 |
https://github.com/monarch-initiative/mondo/issues/7924 |
|
| id |
MONDO:0018544
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder |
|
| label |
adrenoleukodystrophy
|
|
| notation |
MONDO:0018544
|
|
| prefLabel |
adrenoleukodystrophy
|
|
| skos_closeMatch | ||
| skos_exactMatch |
http://linkedlifedata.com/resource/umls/id/C0162309 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1085655586 http://identifiers.org/medgen/57667 http://identifiers.org/mesh/D000326 http://purl.obolibrary.org/obo/Orphanet_43 |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0015547 http://purl.obolibrary.org/obo/MONDO_0000425 http://purl.obolibrary.org/obo/MONDO_0005495 |
|
| excluded subClassOf | ||
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015547 http://purl.obolibrary.org/obo/MONDO_0000425 http://purl.obolibrary.org/obo/MONDO_0005495 |
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