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Experimental Factor Ontology
Last uploaded:
January 16, 2025
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| Preferred Name | adrenomyeloneuropathy | |
| Synonyms |
adrenomyeloneuropathy AMN |
|
| Definitions |
An adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males. Both males and females can be affected with AMN. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0015339 |
|
| database_cross_reference |
UMLS:C1527231 NANDO:2201248 Orphanet:139399 NANDO:1200168 icd11.foundation:1214673956 SCTID:65389002 MEDGEN:315918 GARD:10614
|
|
| definition |
An adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males. Both males and females can be affected with AMN.
|
|
| exactMatch |
http://identifiers.org/medgen/315918 http://linkedlifedata.com/resource/umls/id/C1527231 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1214673956 |
|
| has_exact_synonym |
adrenomyeloneuropathy AMN
|
|
| IAO_0000233 | ||
| id |
MONDO:0015339
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder |
|
| label |
adrenomyeloneuropathy
|
|
| notation |
MONDO:0015339
|
|
| preferred label |
adrenomyeloneuropathy
|
|
| prefLabel |
adrenomyeloneuropathy
|
|
| excluded_subClassOf | ||
| subClassOf |
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