RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
Autoimmunity-Immunodeficiency Syndrome, X-Linked; DMSD; Diabetes Mellitus, Congenital Insulin-Dependent, with Fatal Secretory Diarrhea; Diarrhea, Polyendocrinopathy, Fatal Infection Syndrome, X-Linked; Enteropathy, Autoimmune, with Hemolytic Anemia and Polyendocrinopathy; IDDM-Secretory Diarrhea Syndrome; INSULIN-DEPENDENT DIABETES MELLITUS SECRETORY DIARRHEA SYNDROME; IPEX; Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked; Ipex Syndrome; X-linked autoimmunity-allergic dysregulation syndrome; X-linked polyendocrinopathy, immune dysfunction, and diarrhea; XLAAD; XPID; autoimmune enteropathy type 1
narrow_synonym:
IMMUNODEFICIENCY, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED; absence of islets of Langerhans
DNA:mutations:multiple (human) ClinVar Annotator: match by OMIM:304790 ClinVar Annotator: match by term: Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome