Rare Disease Library

Myopathic Ehlers-Danlos syndrome

Myopathic EDS · EDS/myopathy overlap syndrome

Action myoclonus-renal failure syndrome

AMRF · Progressive myoclonus epilepsy type 4

Carey-Fineman-Ziter syndrome

Myopathy-Moebius-Robin syndrome

Ehlers-Danlos/osteogenesis imperfecta syndrome

EDS/OI syndrome

Overgrowth syndrome

Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome

PBC/PSC and AIH overlap syndrome · Overlap syndromes of autoimmune liver diseases

Progressive external ophthalmoplegia-myopathy-emaciation syndrome

Mitochondrial DNA maintenance syndrome due to MGME1 deficiency · PEO-myopathy-emaciation syndrome

Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome

Stevens-Johnson/toxic epidermal necrolysis overlap syndrome · SJS/TEN overlap syndrome