Explore the map
Each bubble is a syndrome; size reflects symptom count and links connect syndromes that share symptoms. Filter by specialty and tune the overlap threshold.
3
Drag to rearrange · scroll to zoom · click a bubble to open
All syndromes
931
Cardiology
Holt–Oram syndrome
Upper limb malformations with atrial septal defects and conduction disease.
Neurology Horner syndrome
Interruption of oculosympathetic pathway.
Hematology Hoyeraal–Hreidarsson syndrome
Severe telomere biology disorder with immunodeficiency, cerebellar hypoplasia and microcephaly.
Cardiology Hughes–Stovin syndrome
Pulmonary artery aneurysms with deep vein thrombosis, mainly in young men.
Nephrology Hungry bone syndrome
Severe hypocalcemia after parathyroidectomy.
Cardiology Hunter syndrome
X-linked lysosomal storage disorder with valve thickening and cardiomyopathy.
Neurology Huntington disease phenocopy syndrome
Disorders mimicking Huntington disease without HTT expansion.
Cardiology Hurler syndrome
Lysosomal storage disorder with valve disease and coronary narrowing.
Genetics Hurler–Scheie syndrome
Intermediate MPS I.
Endocrinology Hutchinson–Gilford progeria syndrome
Premature aging syndrome with severe atherosclerosis in childhood.
Hematology Hydrops fetalis syndrome
Severe alpha thalassemia causing fetal hydrops.
Rheumatology Hyper-IgD syndrome
Recurrent fever with lymphadenopathy and elevated IgD.
Pediatrics Hyper-IgM syndrome
Immunodeficiency with elevated IgM and low IgG, IgA, IgE.
Neurology Hyperekplexia
Exaggerated startle response with stiffness.
Hematology Hypereosinophilic syndrome
Persistent eosinophilia with organ damage.
Pediatrics Hyperimmunoglobulin E syndrome
Recurrent staphylococcal infections, eczema and high IgE.
Endocrinology Hyperinsulinism–hyperammonemia syndrome
Hypoglycemia with mild hyperammonemia from activating glutamate dehydrogenase variants.
Rheumatology Hypermobile Ehlers–Danlos syndrome
Joint hypermobility with chronic pain and fatigue.
Endocrinology Hyperparathyroidism–jaw tumor syndrome
Primary hyperparathyroidism with ossifying fibromas of jaw and uterine tumors.
Endocrinology Hyperprolactinemia–galactorrhea syndrome
Prolactin excess causing galactorrhea and amenorrhea.
Pulmonology Hyperventilation syndrome
Overbreathing with multisystem symptoms without organic cause.
Neurology Hyperventilation syndrome with neurological symptoms
Symptoms from overbreathing.
Neurology Hyperventilation tetany syndrome
Carpopedal spasm and paresthesia from respiratory alkalosis.
Oncology Hyperviscosity syndrome
Symptoms from increased serum viscosity in paraproteinemia.