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Experimental Factor Ontology
| Preferred Name | adrenoleukodystrophy | |
| Synonyms |
diffuse sclerosis adrenoleukodystrophy, X-linked recessive adrenoleukodystrophy X-linked adrenoleukodystrophy adrenoleukodystrophy, X-linked adrenomyeloneuropathy, adult, X-linked recessive adrenomyeloneuropathy, adult X-linked ALD encephalitis periaxialis concentrica diffuse cerebral sclerosis of Schilder ABCD1 deficiency Siemerling-Creutzfeldt disease X-Linked Adrenoleukodystrophy Bronze-Schilder disease encephalitis periaxialis, Schilder's sudanophilic cerebral sclerosis ALD X-ALD |
|
| 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 | ||
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0018544 |
|
| database_cross_reference |
NANDO:2200576 UMLS:C0162309 OMIM:300100 NCIT:C61252 Orphanet:43 NANDO:1200165 icd11.foundation:1085655586 MedDRA:10051260 MESH:D000326 MEDGEN:57667 SCTID:49692006 DOID:10588 GARD:5758 ICD9:341.1 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.
|
|
| 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://www.orpha.net/ORDO/Orphanet_43 |
|
| has_exact_synonym |
adrenoleukodystrophy, X-linked recessive adrenoleukodystrophy X-linked adrenoleukodystrophy adrenoleukodystrophy, X-linked adrenomyeloneuropathy, adult, X-linked recessive adrenomyeloneuropathy, adult X-linked ALD encephalitis periaxialis concentrica diffuse cerebral sclerosis of Schilder ABCD1 deficiency Siemerling-Creutzfeldt disease X-Linked Adrenoleukodystrophy Bronze-Schilder disease encephalitis periaxialis, Schilder's sudanophilic cerebral sclerosis ALD X-ALD
|
|
| 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#ordo_disorder http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#otar |
|
| label |
adrenoleukodystrophy
|
|
| notation |
MONDO:0018544
|
|
| preferred label |
adrenoleukodystrophy
|
|
| 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 |
| Delete | Subject | Author | Type | Created |
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