About: immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome

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About: immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Goto Sponge Distinct Permalink

An Entity of Type : owl:Class, within Data Space : demo.openlinksw.com associated with source document(s)

Attributes	Values
type	Class
subClassOf	X-linked recessive disease autoimmune disease nodeID://b50942273 nodeID://b50942274
label	immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0090110
database_cross_reference	GARD:1850 ICD10CM:E31.0 OMIM:304790 ORDO:37042
has_exact_synonym	immunodeficiency, polyendocrinopathy, and enteropathy, X-linked (en) immunodysregulation, polyendocrinopathy, and enteropathy, X-Linked (en) X-linked autoimmunity-allergic dysregulation syndrome (en) Autoimmune enteropathy type 1 (en) DMSD (en) IDDM-secretory diarrhea syndrome (en) IPEX (en) diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea (en) XLAAD (en) XPID (en) autoimmunity-immunodeficiency syndrome, X-linked (en) diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	An autoimmune disease that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has material_basis_in X-linked recessive mutation in the forkhead box P3 (FOXP3) gene on chromosome Xp11.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50942275

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