Mondo Disease Ontology

Last uploaded: January 7, 2025
Preferred Name

adrenomyeloneuropathy
Synonyms

AMN

adrenomyeloneuropathy

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

icd11.foundation:1214673956

NANDO:2201248

MEDGEN:315918

SCTID:65389002

GARD:10614

Orphanet:139399

NANDO:1200168

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.

has_exact_synonym

AMN

adrenomyeloneuropathy

IAO_0000233

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

id

MONDO:0015339

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-simple#otar

http://purl.obolibrary.org/obo/mondo/mondo-simple#rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_subtype_of_a_disorder

http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare

label

adrenomyeloneuropathy

notation

MONDO:0015339

prefLabel

adrenomyeloneuropathy

skos_exactMatch

http://identifiers.org/medgen/315918

http://linkedlifedata.com/resource/umls/id/C1527231

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1214673956

http://purl.obolibrary.org/obo/Orphanet_139399

http://identifiers.org/snomedct/65389002

treeView

http://purl.obolibrary.org/obo/MONDO_0018544

http://purl.obolibrary.org/obo/MONDO_0020127

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0010247

subClassOf

http://purl.obolibrary.org/obo/MONDO_0018544

http://purl.obolibrary.org/obo/MONDO_0020127

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