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
ichthyosis hystrix of curth-macklin expert list
monilethrix expert list
pachyonychia congenita expert list
superficial epidermolytic ichthyosis expert list
autosomal dominant epilepsy with auditory features expert list
autosomal dominant focal dystonia, dyt25 type expert list
autosomal dominant hyper-ige syndrome expert list
loeys-dietz syndrome expert list
autosomal dominant hypohidrotic ectodermal dysplasia expert list
autosomal recessive hypohidrotic ectodermal dysplasia expert list
cleidocranial dysplasia expert list
autosomal dominant intermediate charcot-marie-tooth disease with neuropathic pain expert list
autosomal dominant limb-girdle muscular dystrophy type 1b expert list
familial isolated dilated cardiomyopathy expert list
autosomal dominant non-syndromic intellectual disability expert list
autosomal recessive non-syndromic intellectual disability expert list
early-onset epileptic encephalopathy and intellectual disability due to grin2a mutation expert list
autosomal dominant non-syndromic sensorineural deafness type dfna expert list
foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome expert list
hemolytic anemia due to red cell pyruvate kinase deficiency expert list