🧬 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
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.
Hematology
Aase–Smith syndrome
Congenital hypoplastic anemia with triphalangeal thumbs and heart defects.
Nephrology
Abdominal compartment syndrome
Organ dysfunction from raised intra-abdominal pressure.
Cardiology
Abetalipoproteinemia
Absence of apoB-containing lipoproteins with fat malabsorption and neuropathy.
Neurology
Acquired cerebellar syndrome
Descriptor for ataxia from non-genetic causes.
Infectious Disease
Acquired immunodeficiency syndrome
Advanced HIV infection with severe CD4 T-cell depletion.
Nephrology
Action myoclonus–renal failure syndrome
Progressive myoclonus epilepsy with proteinuria and renal failure.
Hematology
Acute chest syndrome
Pulmonary complication of sickle cell disease.
Obstetrics and Gynecology
Acute fatty liver of pregnancy syndrome
Liver failure in late pregnancy from microvesicular steatosis.
Pulmonology
Acute respiratory distress syndrome
Acute diffuse inflammatory lung injury with noncardiogenic pulmonary edema and hypoxemia.
Ophthalmology
Acute retinal necrosis syndrome
Rapid necrotizing retinitis from herpesviruses.
Cardiology
Adams–Stokes syndrome
Sudden loss of consciousness caused by transient asystole or ventricular arrhythmia in heart block.
Ophthalmology
Adie tonic pupil syndrome
Tonic dilated pupil with absent deep tendon reflexes.
Neurology
Aicardi syndrome
Rare neurodevelopmental disorder in females with agenesis of the corpus callosum, chorioretinal lacunae and infantile spasms.
Neurology
Aicardi–Goutières syndrome
Inherited interferonopathy with leukodystrophy, brain calcification and chilblains.
Cardiology
Alagille syndrome
Multisystem syndrome with cholestasis, pulmonary artery stenosis and butterfly vertebrae.
Psychiatry
Alcohol withdrawal syndrome
Autonomic hyperactivity after cessation of chronic alcohol use.
Psychiatry
Alice in Wonderland syndrome
Episodic distortions of body image, size and time perception.
Neurology
Alien hand syndrome
Involuntary purposeful movements of a hand without sense of control.
Endocrinology
Allan–Herndon–Dudley syndrome
X-linked intellectual disability with abnormal thyroid hormone levels.
Neurology
Alpers–Huttenlocher syndrome
Mitochondrial DNA depletion syndrome with refractory seizures and liver failure.
Immunology
Alpha-gal syndrome
Delayed allergy to galactose-alpha-1,3-galactose after tick bites.
Nephrology
Alport syndrome
Hereditary basement membrane disorder with hematuria, progressive kidney failure, hearing loss and eye changes.
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