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
46,xx gonadal dysgenesis expert list
disorder of sex development-intellectual disability syndrome expert list
46,xy disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency expert list
46,xy disorder of sex development due to 5-alpha-reductase 2 deficiency expert list
adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency expert list
apparent mineralocorticoid excess expert list
7q11.23 microduplication syndrome expert list
aarskog-scott syndrome expert list
fragile x syndrome expert list
ablepharon macrostomia syndrome expert list
absence of fingerprints-congenital milia syndrome expert list
acanthamoeba keratitis expert list
achondroplasia expert list
aortic arch interruption expert list
apert syndrome expert list
atresia of small intestine expert list
autosomal recessive primary microcephaly expert list
caudal regression sequence expert list
colonic atresia expert list
congenital absence/hypoplasia of fingers excluding thumb, unilateral expert list