Endocrinology
Each bubble is a syndrome; size reflects symptom count and links connect syndromes that share symptoms. Filter by specialty and tune the overlap threshold.
3
Drag to rearrange · scroll to zoom · click a bubble to open
Endocrinology syndromes
99
Endocrinology
Rabson–Mendenhall syndrome
Severe insulin resistance with acanthosis, dental dysplasia and pineal hyperplasia.
Endocrinology Resistance to thyroid hormone
Reduced tissue sensitivity to thyroid hormone with elevated T4 and non-suppressed TSH.
Endocrinology ROHHAD syndrome
Rare childhood syndrome with sudden obesity and hypothalamic dysfunction.
Endocrinology Sanjad–Sakati syndrome
Recessive hypoparathyroidism with growth failure and dysmorphism.
Endocrinology Schaaf–Yang syndrome
Neurodevelopmental disorder with Prader–Willi-like features from truncating MAGEL2 variants.
Endocrinology Seckel syndrome
Severe proportionate short stature with microcephaly and beaked nose.
Endocrinology Septo-optic dysplasia
Optic nerve hypoplasia with midline brain defects and hypopituitarism.
Endocrinology Sheehan syndrome
Pituitary infarction after severe postpartum hemorrhage.
Endocrinology SHORT syndrome
Syndrome with insulin resistance and distinctive facies.
Endocrinology Silver–Russell syndrome
Imprinting disorder with intrauterine and postnatal growth restriction and relative macrocephaly.
Endocrinology Smith–Lemli–Opitz syndrome
Cholesterol synthesis defect with malformations and developmental delay.
Endocrinology Sotos syndrome
Overgrowth with macrocephaly and developmental delay.
Endocrinology Swyer syndrome
Female phenotype with 46,XY karyotype and streak gonads.
Endocrinology Syndrome of inappropriate antidiuretic hormone secretion
Hyponatremia from excess ADH secretion.
Endocrinology Temple syndrome
Imprinting disorder with growth restriction and early puberty.
Endocrinology Triple A syndrome
Adrenal insufficiency, achalasia and alacrima.
Endocrinology Triple H syndrome
Urea cycle disorder from mitochondrial ornithine transporter deficiency.
Endocrinology Turner syndrome
Complete or partial absence of one X chromosome in females with short stature and ovarian failure.
Endocrinology Verner–Morrison syndrome
Watery diarrhea, hypokalemia and achlorhydria from VIP-secreting tumor.
Endocrinology Von Hippel–Lindau disease
Hereditary tumor syndrome with hemangioblastomas, renal carcinoma and pheochromocytoma.
Endocrinology WAGR syndrome
Contiguous gene deletion syndrome at 11p13.
Endocrinology Waterhouse–Friderichsen syndrome
Acute adrenal failure with purpura from bilateral adrenal hemorrhage in septicemia.
Endocrinology Weaver syndrome
Overgrowth syndrome with advanced bone age and distinctive facies.
Endocrinology Werner syndrome
Adult-onset progeroid syndrome with diabetes, cataracts and cancer risk.