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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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All syndromes
931
Cardiology
Rubinstein–Taybi syndrome
Broad thumbs and toes with intellectual disability and congenital heart disease.
Gastroenterology Rumination syndrome
Effortless repeated regurgitation of recently eaten food.
Dentistry Rutherfurd syndrome
Gingival fibromatosis with corneal opacities.
ENT Samter triad syndrome
Asthma, nasal polyps and aspirin sensitivity.
Neurology Sandifer syndrome
Paroxysmal dystonic posturing associated with reflux in infants.
Pediatrics Sanfilippo syndrome
Lysosomal storage disease with severe neurodegeneration.
Endocrinology Sanjad–Sakati syndrome
Recessive hypoparathyroidism with growth failure and dysmorphism.
Rheumatology SAPHO syndrome
Chronic inflammatory osteoarticular and skin disorder.
Neurology Satoyoshi syndrome
Painful muscle spasms with alopecia and diarrhea.
Endocrinology Schaaf–Yang syndrome
Neurodevelopmental disorder with Prader–Willi-like features from truncating MAGEL2 variants.
Pediatrics Scheie syndrome
Attenuated MPS I with corneal clouding and joint stiffness.
Nephrology Schimke immuno-osseous dysplasia syndrome
Spondyloepiphyseal dysplasia, T-cell immunodeficiency and steroid-resistant nephropathy.
Hematology Schnitzler syndrome
Autoinflammatory syndrome with chronic urticaria and IgM gammopathy.
Oncology Schwannomatosis syndrome
Multiple painful schwannomas without vestibular tumors.
Neurology Schwartz–Jampel syndrome
Myotonia with skeletal dysplasia and blepharophimosis.
Cardiology Scimitar syndrome
Anomalous right pulmonary venous drainage to the inferior vena cava with right lung hypoplasia.
Hematology Scott syndrome
Bleeding disorder from impaired platelet phosphatidylserine exposure.
Nephrology Sebastian syndrome
MYH9 disorder with macrothrombocytopenia and leukocyte inclusions without nephritis.
Endocrinology Seckel syndrome
Severe proportionate short stature with microcephaly and beaked nose.
Cardiology Sengers syndrome
Congenital cataracts, hypertrophic cardiomyopathy and lactic acidosis.
Nephrology Senior–Løken syndrome
Nephronophthisis with retinal degeneration.
Genetics Sensenbrenner syndrome
Ciliopathy with craniosynostosis, ectodermal anomalies and nephronophthisis.
Endocrinology Septo-optic dysplasia
Optic nerve hypoplasia with midline brain defects and hypopituitarism.
Psychiatry Serotonin syndrome
Excess serotonergic activity from drug combinations.