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.
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Endocrinology syndromes
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Endocrinology
3M syndrome
Primordial growth failure with slender bones and normal intelligence.
Endocrinology Aarskog–Scott syndrome
X-linked short stature syndrome with hypertelorism and shawl scrotum.
Endocrinology Allan–Herndon–Dudley syndrome
X-linked intellectual disability with abnormal thyroid hormone levels.
Endocrinology Alström syndrome
Ciliopathy with childhood obesity, blindness, deafness, cardiomyopathy and diabetes.
Endocrinology Androgen insensitivity syndrome
X-linked disorder of sex development with end-organ resistance to androgens in 46,XY individuals.
Endocrinology Autoimmune polyglandular syndrome type 1
Triad of chronic mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency.
Endocrinology Autoimmune polyglandular syndrome type 2
Addison disease with autoimmune thyroid disease and/or type 1 diabetes.
Endocrinology Bamforth–Lazarus syndrome
Congenital hypothyroidism with cleft palate, choanal atresia and spiky hair.
Endocrinology Barakat syndrome
Triad of hypoparathyroidism, sensorineural deafness and renal anomalies.
Endocrinology Bardet–Biedl syndrome
Ciliopathy with obesity, retinal dystrophy, polydactyly, renal disease and hypogonadism.
Endocrinology Bartter syndrome
Salt-losing tubulopathy with hypokalemic alkalosis and normal blood pressure.
Endocrinology Beckwith–Wiedemann syndrome
Overgrowth imprinting disorder with macroglossia, omphalocele and neonatal hypoglycemia.
Endocrinology Börjeson–Forssman–Lehmann syndrome
X-linked intellectual disability with obesity and hypogonadism.
Endocrinology Brain–lung–thyroid syndrome
Congenital hypothyroidism, respiratory distress and chorea.
Endocrinology Camurati–Engelmann syndrome
Hyperostosis of long bones and skull.
Endocrinology Carcinoid syndrome
Flushing, diarrhea and wheeze from secreting neuroendocrine tumors.
Endocrinology Cohen syndrome
Syndrome with truncal obesity, neutropenia, retinal dystrophy and microcephaly.
Endocrinology Congenital generalized lipodystrophy
Near-total lack of body fat with severe insulin resistance.
Endocrinology Conn syndrome
Hypertension and hypokalemia from aldosterone excess.
Endocrinology Cornelia de Lange syndrome
Multisystem syndrome with growth failure, synophrys and limb anomalies.
Endocrinology Cowden syndrome
Hamartomas with thyroid, breast and endometrial cancer risk.
Endocrinology Cushing syndrome
Clinical state of chronic glucocorticoid excess.
Endocrinology Denys–Drash syndrome
Early-onset nephropathy, Wilms tumor and 46,XY disorder of sex development.
Endocrinology DICER1 syndrome
Hereditary predisposition to multinodular goiter, ovarian sex-cord tumors and pleuropulmonary blastoma.