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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
Obstetrics and Gynecology
Asherman syndrome
Intrauterine scarring after uterine curettage or infection.
Urology Ask–Upmark kidney syndrome
Segmental renal hypoplasia with hypertension.
Neurology Asperger syndrome with neurological comorbidity
Historical diagnosis now within autism spectrum disorder.
Neurology Ataxia-telangiectasia
Autosomal recessive progressive ataxia with telangiectasia and immunodeficiency.
Nephrology Atypical hemolytic uremic syndrome
Complement-mediated thrombotic microangiopathy not caused by Shiga toxin.
Hematology Autoimmune lymphoproliferative syndrome
Defective lymphocyte apoptosis with lymphoproliferation and autoimmune cytopenias.
Immunology Autoimmune polyendocrine syndrome type 1
Chronic mucocutaneous candidiasis, hypoparathyroidism and Addison disease.
Endocrinology Autoimmune polyglandular syndrome type 1
Triad of chronic mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency.
Endocrinology Autoimmune polyglandular syndrome type 2
Addison disease with autoimmune thyroid disease and/or type 1 diabetes.
Neurology Avellis syndrome
Ipsilateral palate and vocal cord paralysis with contralateral sensory loss.
Ophthalmology Axenfeld–Rieger syndrome
Anterior segment dysgenesis with glaucoma and systemic anomalies.
Neurology Bálint syndrome
Visuospatial disorder from bilateral parieto-occipital damage.
Ophthalmology Balint syndrome
Simultanagnosia, optic ataxia and oculomotor apraxia.
Endocrinology Bamforth–Lazarus syndrome
Congenital hypothyroidism with cleft palate, choanal atresia and spiky hair.
Genetics Bannayan–Riley–Ruvalcaba syndrome
PTEN hamartoma tumor syndrome of childhood.
Neurology Bannayan–Riley–Ruvalcaba syndrome with neurological involvement
Overgrowth syndrome with macrocephaly.
Neurology Bannwarth syndrome
Painful lymphocytic meningoradiculitis in Lyme disease in Europe.
Oncology BAP1 tumor predisposition syndrome
BAP1 germline mutations with uveal melanoma and mesothelioma.
Endocrinology Barakat syndrome
Triad of hypoparathyroidism, sensorineural deafness and renal anomalies.
Endocrinology Bardet–Biedl syndrome
Ciliopathy with obesity, retinal dystrophy, polydactyly, renal disease and hypogonadism.
Pediatrics Bare lymphocyte syndrome
Severe combined immunodeficiency from absent MHC expression.
Neurology Barré–Liéou syndrome
Vertigo, headache and tinnitus attributed to cervical spondylosis.
Cardiology Barth syndrome
X-linked disorder with cardiomyopathy, neutropenia and skeletal myopathy.
Neurology Barth syndrome with neurological involvement
X-linked mitochondrial disorder with cardiomyopathy, neutropenia and myopathy.