🧬 SyndromeScope

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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
Pulmonology
Reactive airways dysfunction syndrome
Asthma-like illness after single high-level irritant inhalation.
Psychiatry
Refeeding syndrome
Electrolyte and fluid shifts after nutrition is restored in starvation.
Infectious Disease
Reiter syndrome
Arthritis, urethritis and conjunctivitis after infection.
Nephrology
Renal coloboma syndrome
Optic nerve coloboma with renal hypodysplasia.
Nephrology
Renal–hepatic–pancreatic dysplasia syndrome
Renal dysplasia with hepatic fibrosis and pancreatic cysts.
Endocrinology
Resistance to thyroid hormone
Reduced tissue sensitivity to thyroid hormone with elevated T4 and non-suppressed TSH.
Neurology
Restless legs syndrome
Sensorimotor disorder with urge to move legs, worse at rest and evening.
Oncology
Retinoblastoma syndrome
Germline RB1 mutation with retinoblastoma and second cancers.
Neurology
Rett syndrome
X-linked neurodevelopmental disorder with regression after normal early development.
Neurology
Reversible cerebral vasoconstriction syndrome
Reversible multifocal cerebral artery narrowing with thunderclap headache.
Hematology
Revesz syndrome
Severe telomere disorder with bilateral exudative retinopathy and cerebellar hypoplasia.
Pediatrics
Reye syndrome
Acute encephalopathy with fatty liver after viral illness and aspirin use.
Oncology
Rhabdoid tumor predisposition syndrome
Germline SMARCB1 or SMARCA4 mutation with rhabdoid tumors.
Hematology
Richter syndrome
Transformation of CLL into aggressive lymphoma.
Neurology
Riley–Day syndrome
Hereditary sensory and autonomic neuropathy type III.
Neurology
Ring chromosome 20 syndrome
Chromosomal disorder with refractory epilepsy and nonconvulsive status.
Cardiology
Ritscher–Schinzel syndrome
Cerebellar malformation, craniofacial anomalies and congenital heart disease.
Dentistry
Robinow syndrome
Short stature, hypertelorism and gingival hyperplasia.
Cardiology
Roemheld syndrome
Cardiac symptoms triggered by gastric distension.
Endocrinology
ROHHAD syndrome
Rare childhood syndrome with sudden obesity and hypothalamic dysfunction.
Dermatology
Ross syndrome
Progressive segmental anhidrosis, tonic pupil and hyporeflexia.
Dermatology
Rothmund–Thomson syndrome
Poikiloderma with skeletal anomalies and cancer predisposition.
Gastroenterology
Rotor syndrome
Benign conjugated hyperbilirubinemia without hepatic pigment.
Neurology
Roussy–Lévy syndrome
Demyelinating CMT with tremor and areflexia.
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