Mondo Description Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the HNF1A gene.
Uniprot Description A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
Mondo Term and Equivalent IDs
MONDO:0012919: type 1 diabetes mellitus 20