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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
Nephrology
Alport syndrome with diffuse leiomyomatosis
Alport syndrome with esophageal leiomyomatosis from contiguous deletion.
Endocrinology Alström syndrome
Ciliopathy with childhood obesity, blindness, deafness, cardiomyopathy and diabetes.
Dentistry Amelogenesis imperfecta with nephrocalcinosis syndrome
Amelogenesis imperfecta with nephrocalcinosis.
Neurology Amnestic syndrome
Descriptor for memory loss syndromes.
Obstetrics and Gynecology Amniotic fluid embolism syndrome
Sudden cardiovascular collapse and coagulopathy from amniotic fluid entering maternal circulation.
Psychiatry Amok syndrome
Sudden violent outburst after brooding.
Neurology Andersen–Tawil syndrome
Periodic paralysis with cardiac arrhythmia and dysmorphic features.
Endocrinology Androgen insensitivity syndrome
X-linked disorder of sex development with end-organ resistance to androgens in 46,XY individuals.
Neurology Angelman syndrome
Severe developmental delay, ataxia and happy demeanor.
Ophthalmology Aniridia-Wilms tumor-genitourinary anomalies-retardation syndrome
11p13 deletion syndrome with aniridia, Wilms tumor and intellectual disability.
Cardiology Anomalous left coronary artery from pulmonary artery
Left coronary artery arises from the pulmonary artery, causing myocardial ischemia.
Orthopedics Anterior cord syndrome
Loss of motor function and pain/temperature sensation below the lesion with preserved dorsal columns.
Neurology Anterior interosseous nerve syndrome
Motor branch of median nerve neuropathy.
Neurology Anti-Hu encephalomyelitis
Paraneoplastic encephalomyelitis with ANNA-1 antibodies.
Neurology Anti-Ma2 encephalitis
Limbic and diencephalic encephalitis in testicular germ-cell tumors.
Hematology Antiphospholipid syndrome
Autoimmune hypercoagulable state with antiphospholipid antibodies, thrombosis and pregnancy loss.
Cardiology Antiphospholipid syndrome cardiac manifestations
Valve lesions, intracardiac thrombosis and coronary thrombosis in antiphospholipid syndrome.
Rheumatology Antisynthetase syndrome
Myositis, interstitial lung disease, arthritis and mechanic's hands with antisynthetase antibodies.
Neurology Anton syndrome
Cortical blindness with denial of blindness.
Immunology APDS syndrome
Combined immunodeficiency with lymphoproliferation.
Pediatrics Apert syndrome
Craniosynostosis with severe syndactyly of hands and feet.
Ophthalmology Argyll Robertson pupil syndrome
Small irregular pupils that accommodate but do not react to light.
Cardiology Arterial tortuosity syndrome
Recessive connective tissue disorder with elongated tortuous arteries and aneurysms.
Dentistry Ascher syndrome
Double lip, eyelid swelling and thyroid enlargement.