Endocrine System Phenotypes

Endocrine diseases involve dysfunction of hormone-producing glands such as the thyroid, pancreas, pituitary, or adrenal glands. These disorders impact metabolism, growth, development, and homeostasis, and include conditions like diabetes mellitus, hypothyroidism, and adrenal insufficiency. Phenotype logic found in this collection may rely on diagnosis codes, hormone assay lab results (e.g., TSH, insulin, cortisol), medication exposures (e.g., insulin, levothyroxine), and clinical measurements like growth velocity or blood glucose levels. Example phenotypes include “Type 1 Diabetes Mellitus,” often defined using a combination of diagnosis codes, insulin prescriptions, and elevated HbA1c, and “Congenital Hypothyroidism,” which may be identified using newborn screening data and early hormone replacement therapy.