genetic disease of the endocrine system
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More general terms
More specific terms
- ACTH-independent macronodular adrenal hyperplasia (AIMAH); adrenal Cushing syndrome due to AIMAH
- adrenocortical insufficiency without ovarian defect
- androgen insensitivity syndrome; testicular feminization syndrome; Goldberg-Maxwell syndrome
- aromatase deficiency
- autosomal dominant hypoparathyroidism; familial isolated hypoparathyroidism; autosomal dominant hypocalcemia
- combined pituitary hormone deficiency (pituitary dwarfism 3)
- congenital adrenal hypoplasia
- congenital hypothyroidism non-goitrous type 1 (CHNG1); congenital hypothyroidism due to TSH resistance
- developmental disorder of aldosterone deficiency
- familial combined pituitary hormone deficiency
- familial glucocorticoid deficiency
- familial hypocalciuric hypercalcemia
- familial precocious puberty
- glucocorticoid suppressible hyperaldosteronism (GSH); glucocorticoid remediable aldosteronism (GRA)
- growth hormone deficiency isolated type 1A; pituitary dwarfism I (IGHD1A)
- growth hormone deficiency isolated type 1B; dwarfism of Sindh (IGHD1B)
- growth hormone deficiency isolated type 2; dwarfism of Sindh (IGHD1B)
- hyperinsulinism-hyperammonemia syndrome
- infundibular hypoplasia & hypopituitarism
- Kowarski syndrome; pituitary dwarfism VI
- leprechaunism (Donohue syndrome)
- leucine-induced hypoglycemia; leucine-sensitive hypoglycemia of infancy
- Leydig cell hypoplasia
- mineralocorticoid excess
- mineralocorticoid receptor activation
- neonatal severe primary hyperparathyroidism
- pancreatic agenesis
- pro-opiomelanocortin (POMC) deficiency
- pseudohypoaldosteronism type 1
- pseudohypoaldosteronism type 2 (Gordon syndrome)
- Rabson-Mendenhall syndrome (Mendenhall syndrome)
- sex reversal disorder
- somatotrophinoma (growth hormone secreting pituitary tumor)
- Wolfram syndrome; diabetes insipidus & mellitus with optic atrophy & deafness syndrome (DIDMOAD)
- X-linked adrenal hypoplasia congenital
- youth-onset type 2 diabetes; mature onset diabetes of the young (MODY)