autoimmune polyendocrine syndrome type 1

Summary

DOID:0050167 - autoimmune polyendocrine syndrome type 1

Disease Ontology Definition:An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.

Synonyms: autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, Autoimmune Polyglandular Syndrome I, Whitaker syndrom, Whitaker syndrome

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: aire

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009411 - autoimmune polyendocrine syndrome type 1

MONDO:0009411 - autoimmune polyendocrine syndrome type 1

MIM:

MIM:240300 - AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1

MIM:240300 - AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autoimmune polyendocrine syndrome (is_a)