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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
Jeune syndrome
Narrow thorax with short ribs, polydactyly and renal disease.
Hematology Job syndrome
Primary immunodeficiency with eczema, recurrent skin and lung infections and high IgE.
Gastroenterology Johanson–Blizzard syndrome
Pancreatic insufficiency, nasal alae hypoplasia and deafness.
Neurology Joubert syndrome
Ciliopathy with molar tooth sign.
Gastroenterology Juvenile polyposis syndrome
Multiple hamartomatous juvenile polyps of the gastrointestinal tract.
Cardiology Kabuki syndrome
Syndrome with congenital heart disease, distinctive facies, skeletal anomalies and developmental delay.
Endocrinology Kagami–Ogata syndrome
Imprinting disorder with bell-shaped thorax and polyhydramnios.
Endocrinology Kallmann syndrome
Congenital hypogonadotropic hypogonadism with absent sense of smell.
Neurology Kallmann syndrome with neurological involvement
Hypogonadotropic hypogonadism with anosmia.
Cardiology Kartagener syndrome
Primary ciliary dyskinesia with dextrocardia, sinusitis and bronchiectasis.
Cardiology Kasabach–Merritt syndrome
Consumptive coagulopathy and thrombocytopenia with kaposiform vascular tumors.
Infectious Disease Katayama syndrome
Hypersensitivity reaction during early schistosome infection.
Pediatrics Kawasaki syndrome
Acute medium-vessel vasculitis of early childhood.
Neurology Kearns–Sayre syndrome
Onset before 20 with PEO and pigmentary retinopathy.
Nephrology Kelley–Seegmiller syndrome
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency with gout and kidney stones.
Endocrinology Kenny–Caffey syndrome
Short stature, tubular bone thickening and hypoparathyroidism.
Pediatrics Kernicterus syndrome
Bilirubin deposition in basal ganglia causing neurologic injury.
Dermatology KID syndrome
Erythrokeratoderma with vascularizing keratitis and deafness.
Dermatology Kindler syndrome
Blistering with poikiloderma and photosensitivity.
Genetics Kleefstra syndrome
Intellectual disability with hypotonia and distinctive facial features.
Neurology Kleine–Levin syndrome
Recurrent episodes of hypersomnia with behavioral and cognitive disturbance.
Endocrinology Klinefelter syndrome
Male hypogonadism due to an extra X chromosome.
Orthopedics Klippel–Feil syndrome
Congenital fusion of cervical vertebrae.
Neurology Klippel–Feil syndrome with neurological involvement
Congenital cervical vertebral fusion.