🧬 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
Hematology
Chediak–Higashi syndrome
Partial albinism, immunodeficiency and giant lysosomes with accelerated phase.
Dermatology
Chédiak–Higashi syndrome
Partial oculocutaneous albinism with immunodeficiency and giant lysosomes.
Neurology
Chiari malformation syndrome
Hindbrain herniation with syrinx.
Obstetrics and Gynecology
Chiari–Frommel syndrome
Persistent postpartum lactation and amenorrhea.
Gastroenterology
Chilaiditi syndrome
Colon interposed between the liver and diaphragm causing symptoms.
Rheumatology
Chilblain lupus syndrome
Familial chilblain lesions with lupus features.
Neurology
Chorea-acanthocytosis
Autosomal recessive neurodegeneration with acanthocytes.
Orthopedics
Chronic exertional compartment syndrome
Exercise-induced pain from raised compartment pressure.
Psychiatry
Chronic fatigue syndrome
Disabling fatigue with post-exertional malaise.
Hematology
Chronic granulomatous disease syndrome
Phagocyte NADPH oxidase defect with recurrent infections and granulomas.
Gastroenterology
Chronic intestinal pseudo-obstruction syndrome
Recurrent obstruction symptoms without a mechanical cause.
Urology
Chronic pelvic pain syndrome
Pelvic pain without infection.
Cardiology
Churg–Strauss syndrome
Small-vessel vasculitis with asthma and eosinophilia, often affecting the heart.
Neurology
Ciguatera-associated neurological syndrome
Neurotoxicity from ciguatoxin in reef fish.
Neurology
Claude syndrome
Oculomotor palsy with contralateral ataxia.
Neurology
Clinically isolated syndrome
First clinical demyelinating attack suggestive of MS.
Urology
Cloacal exstrophy OEIS syndrome
Omphalocele, exstrophy, imperforate anus and spinal defects.
Hematology
Cobalamin C syndrome
Combined methylmalonic aciduria and homocystinuria with megaloblastic anemia and thrombotic microangiopathy.
Dermatology
Cockayne syndrome
Photosensitivity with growth failure and progressive neurodegeneration.
Neurology
Coffin–Lowry syndrome
X-linked intellectual disability syndrome with characteristic facial and skeletal features.
Genetics
Coffin–Siris syndrome
Hypoplastic fifth digit nails with coarse facies and intellectual disability.
Cardiology
Cogan syndrome
Interstitial keratitis with vestibular dysfunction and hearing loss, occasionally aortitis.
Neurology
Cogan syndrome with neurological involvement
Interstitial keratitis with audiovestibular dysfunction, sometimes with vasculitis.
Endocrinology
Cohen syndrome
Syndrome with truncal obesity, neutropenia, retinal dystrophy and microcephaly.
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