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Items: 3

1.

Neuronal loss in central nervous system

MedGen UID:
342515
Concept ID:
C1850496
Finding
2.

Recurrent hypoglycemia

Recurrent episodes of decreased concentration of glucose in the blood. [from HPO]

MedGen UID:
335382
Concept ID:
C1846288
Finding
3.

Diabetes mellitus type 1

Type 1 diabetes mellitus (T1D), also designated insulin-dependent diabetes mellitus (IDDM), is a disorder of glucose homeostasis characterized by susceptibility to ketoacidosis in the absence of insulin therapy. It is a genetically heterogeneous autoimmune disease affecting about 0.3% of Caucasian populations (Todd, 1990). Genetic studies of T1D have focused on the identification of loci associated with increased susceptibility to this multifactorial phenotype. The classic phenotype of diabetes mellitus is 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. [from OMIM]

MedGen UID:
41522
Concept ID:
C0011854
Disease or Syndrome
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