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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
Neurology
Morvan syndrome
Autoimmune peripheral nerve hyperexcitability with encephalopathy.
Genetics Mosaic trisomy 8 syndrome
Mosaic trisomy 8 with deep palmar creases and joint limitation.
Pulmonology Mounier-Kuhn syndrome
Marked tracheal and main bronchial dilation.
Genetics Mowat–Wilson syndrome
Intellectual disability with Hirschsprung disease and characteristic facies.
Immunology Muckle–Wells syndrome
Cold-independent urticaria with deafness and amyloidosis.
Neurology Mucopolysaccharidosis type I with neurological involvement
Lysosomal storage disease with alpha-L-iduronidase deficiency.
Neurology Mucopolysaccharidosis type II with neurological involvement
X-linked lysosomal storage disease.
Neurology Mucopolysaccharidosis type III
Heparan sulfate storage with prominent neurodegeneration.
Neurology Mucopolysaccharidosis type IV with neurological involvement
Keratan sulfate storage with skeletal dysplasia.
Dermatology Muir–Torre syndrome
Sebaceous skin tumors with visceral malignancy.
Endocrinology Multiple endocrine neoplasia type 1
Inherited tumor syndrome with parathyroid, pancreatic islet and anterior pituitary tumors.
Endocrinology Multiple endocrine neoplasia type 2A
Medullary thyroid carcinoma with pheochromocytoma and primary hyperparathyroidism.
Endocrinology Multiple endocrine neoplasia type 2B
Aggressive early medullary thyroid carcinoma, pheochromocytoma, mucosal neuromas and marfanoid habitus.
Ophthalmology Multiple evanescent white dot syndrome
Acute unilateral white dot retinopathy in young women.
Orthopedics Multiple hereditary exostoses syndrome
Multiple osteochondromas.
Neurology Multiple system atrophy
Sporadic adult-onset alpha-synucleinopathy with autonomic failure and parkinsonism or cerebellar ataxia.
Cardiology Multisystem inflammatory syndrome in children
Post-infectious hyperinflammatory syndrome after SARS-CoV-2 infection with cardiac involvement.
Psychiatry Munchausen syndrome
Deliberate fabrication or induction of illness to assume the sick role.
Psychiatry Munchausen syndrome by proxy
Caregiver induces or fabricates illness in a dependent.
Oncology Myelodysplastic syndrome
Clonal marrow disorders with ineffective hematopoiesis.
Hematology Myelodysplastic syndromes
Clonal stem cell disorders with ineffective hematopoiesis and risk of leukemia.
Dermatology Naegeli–Franceschetti–Jadassohn syndrome
Reticulate pigmentation with hypohidrosis and keratoderma.
Orthopedics Nail-patella syndrome
Nail dysplasia, absent patellae and nephropathy.
Nephrology Nail–patella syndrome
Nail dysplasia, absent patellae, iliac horns and nephropathy.