Worldwide Rare disases experts by disease

A curated directory of experts by rare disease, including their contact information, institution and country/location. Please enter a disease on the search field to search for experts in our knowledge base.


Experts by disease

Name
familial developmental dysphasia expert list
familial dysautonomia expert list
familial dyskinesia and facial myokymia expert list
familial encephalopathy with neuroserpin inclusion bodies expert list
familial glucocorticoid deficiency expert list
familial hyperthyroidism due to mutations in tsh receptor expert list
rapidly progressive glomerulonephritis expert list
sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis expert list
familial isolated pituitary adenoma expert list
familial juvenile hyperuricemic nephropathy type 1 expert list
familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement expert list
umod-related autosomal dominant tubulointerstitial kidney disease expert list
familial male-limited precocious puberty expert list
familial mitral valve prolapse expert list
familial nasal acilia expert list
hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome expert list
x-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome expert list
familial partial lipodystrophy, dunnigan type expert list
familial primary localized cutaneous amyloidosis expert list
familial thoracic aortic aneurysm and aortic dissection expert list