Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023

Preferred Name	autoimmune regulator
Synonyms	autoimmune polyendocrinopathy candidiasis ectodermal dystrophy
ID	http://www.orpha.net/ORDO/Orphanet_119562
alternative_term	autoimmune polyendocrinopathy candidiasis ectodermal dystrophy APS1 PGA1
hasDbXref	Reactome:O43918 Ensembl:ENSG00000160224 OMIM:607358 Genatlas:AIRE SwissProt:O43918 HGNC:360
label	autoimmune regulator
prefixIRI	ORDO:Orphanet_119562
prefLabel	autoimmune regulator
symbol	AIRE
subClassOf	http://www.orpha.net/ORDO/Orphanet_410298

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/NCIT_C114321	BERO	LOOM
http://purl.obolibrary.org/obo/PR_000001323	PR	LOOM
http://purl.obolibrary.org/obo/PR_000001323	NIFSTD	LOOM
http://purl.bioontology.org/ontology/OMIM/607358	OMIM	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C114321	NCIT	LOOM
http://www.limics.org/hrdo/rdfns#gen_id_15481	HRDO	LOOM