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
16p11.2p12.2 microduplication syndrome expert list
1q21.1 microdeletion syndrome expert list
1q21.1 microduplication syndrome expert list
22q11.2 deletion syndrome expert list
2p15p16.1 microdeletion syndrome expert list
3mc syndrome expert list
3q29 microdeletion syndrome expert list
45,x/46,xy mixed gonadal dysgenesis expert list
46,xx disorder of sex development induced by androgens excess expert list
46,xx disorder of sex development-anorectal anomalies syndrome expert list
46,xx gonadal dysgenesis expert list
46,xy complete gonadal dysgenesis 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
47,xyy syndrome expert list
7q11.23 microduplication syndrome expert list
8p23.1 microdeletion syndrome expert list
aarskog-scott syndrome expert list
ablepharon macrostomia syndrome expert list
absence of fingerprints-congenital milia syndrome expert list