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
landau-kleffner syndrome expert list
myoclonic-astastic epilepsy expert list
hemochromatosis type 2 expert list
hemochromatosis type 3 expert list
irida syndrome expert list
beta-thalassemia intermedia expert list
beta-thalassemia major expert list
bethlem myopathy expert list
congenital muscular dystrophy, ullrich type expert list
bilateral striopallidodentate calcinosis expert list
cerebrotendinous xanthomatosis expert list
desmosterolosis expert list
lathosterolosis expert list
sitosterolemia expert list
smith-lemli-opitz syndrome expert list
hereditary spherocytosis expert list
overhydrated hereditary stomatocytosis expert list
blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome expert list
blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome expert list
blue cone monochromatism expert list