Diseases named after discoverers
28 entries in the Diseases Named After Discoverers compendium.
Aarskog–Scott syndromeA rare X-linked disorder of short stature, facial features, and skeletal anomalies.Aase syndromeRare inherited disorder with anemia and skeletal deformities.Abruzzo–Erickson syndromeRare X-linked disorder with CHARGE-like features but distinct symptoms.Achard–Thiers syndromeRare postmenopausal syndrome with diabetes and androgen excess.Adams–Oliver syndromeRare congenital disorder with scalp, limb, and skin defects.Addison's diseaseRare endocrine disorder first described by Thomas Addison in 1855.Adult-onset Still's diseaseRare autoinflammatory disease with fevers, joint pain, and rash.Albright's hereditary osteodystrophyA disorder of hormone resistance with distinctive skeletal features.Alexander diseaseRare leukodystrophy causing white matter destruction and Rosenthal fibers.Allan–Herndon–Dudley syndromeRare X-linked disorder impairing brain development via thyroid hormone transport.Alström syndromeRare multi-system genetic disorder with no cure.Arnold–Chiari malformationA type II Chiari malformation named after Chiari and Arnold.Asherman's syndromeAcquired uterine scarring causing infertility and menstrual issues.Ashman phenomenonA cardiac aberrancy often mistaken for ventricular complexes.Baller–Gerold syndromeRare genetic syndrome with skull and limb malformations.Batten diseaseFatal childhood nervous system disorder, first described in 1903.Beck–Fahrner syndromeUltra-rare genetic disorder from TET3 gene variants.Bethlem myopathySlowly progressive myopathy with contractures and skin abnormalities.Bloom syndromeRare genetic disorder with genomic instability and cancer risk.Bruck syndromeRare disorder combining joint contractures and brittle bones.Camurati–Engelmann diseaseRare genetic disorder causing progressive bone thickening and pain.Charcot–Marie–Tooth diseaseInherited neurological disorder affecting peripheral nerves.Chiari malformationStructural cerebellar defect causing brainstem compression and varied neurological symptomCockayne syndromeRare fatal disorder with premature aging and DNA repair defects.Cornelia de Lange syndromeA genetic disorder with varied physical, cognitive, and medical challenges.Crouzon syndromeGenetic disorder causing premature skull bone fusion.Cruveilhier–Baumgarten diseaseRare condition with distended umbilical veins and portal hypertension.Cushing's syndromeA hormonal disorder from prolonged glucocorticoid exposure.
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