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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
Heparin-induced thrombocytopenia syndrome
Immune-mediated thrombocytopenia with thrombosis after heparin exposure.
Cardiology Hepatopulmonary syndrome
Hypoxemia from intrapulmonary vascular dilation in liver disease.
Nephrology Hepatorenal syndrome
Functional kidney failure in advanced cirrhosis.
Oncology Hereditary breast and ovarian cancer syndrome
BRCA-related predisposition to breast, ovarian, prostate and pancreatic cancer.
Oncology Hereditary diffuse gastric cancer syndrome
Germline CDH1 mutations causing diffuse gastric and lobular breast cancer.
Hematology Hereditary hemorrhagic telangiectasia
Inherited vascular dysplasia with epistaxis, telangiectasias and visceral arteriovenous malformations.
Nephrology Hereditary leiomyomatosis and renal cell cancer syndrome
Cutaneous and uterine leiomyomas with aggressive papillary renal cell carcinoma.
Nephrology Hereditary papillary renal carcinoma syndrome
Inherited type 1 papillary renal carcinoma.
Endocrinology Hereditary paraganglioma–pheochromocytoma syndrome
Inherited paragangliomas and pheochromocytomas.
Neurology Hereditary spastic paraplegia type 1
X-linked complicated hereditary spastic paraplegia within the L1 syndrome spectrum.
Neurology Hereditary spastic paraplegia type 15
Recessive HSP with retinal degeneration.
Neurology Hereditary spastic paraplegia type 17
Dominant HSP with distal amyotrophy.
Neurology Hereditary spastic paraplegia type 20
Recessive HSP with distal amyotrophy and short stature.
Neurology Hereditary spastic paraplegia type 21
Recessive HSP with dementia, thin corpus callosum.
Neurology Hereditary spastic paraplegia type 22
X-linked MCT8 deficiency with hypotonia and spastic paraplegia.
Neurology Hereditary spastic paraplegia type 23
Recessive HSP with pigmentary skin changes.
Neurology Hereditary tremor syndrome
Descriptor for tremor in families.
Obstetrics and Gynecology Herlyn–Werner–Wunderlich syndrome
Uterus didelphys, obstructed hemivagina and ipsilateral renal agenesis.
Hematology Hermansky–Pudlak syndrome
Oculocutaneous albinism with platelet storage pool deficiency.
Cardiology Heterotaxy syndrome
Abnormal left-right organ arrangement with complex congenital heart disease.
Cardiology Heyde syndrome
Aortic stenosis with bleeding gastrointestinal angiodysplasia from acquired von Willebrand syndrome.
Urology Hinman syndrome
Functional bladder outlet obstruction with detrusor-sphincter dyssynergia.
Cardiology Holiday heart syndrome
Acute atrial arrhythmia, usually atrial fibrillation, after binge alcohol intake.
Neurology Holmes–Adie syndrome
Tonic pupil with diminished deep tendon reflexes.