Rare Disease Library

Cloacal exstrophy

OEIS complex · Omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome

AMME complex · AMME syndrome

Carney complex

Carney syndrome · Myxoma-spotty pigmentation-endocrine overactivity syndrome

Complex hereditary spastic paraplegia

Complex HSP · Complex SPG

Femur-fibula-ulna complex

FFU complex · Femur-fibula-ulna dysostosis

Shone complex

Xeroderma pigmentosum-Cockayne syndrome complex

XP/CS complex

Xp21 deletion syndrome

Del(X)(p21) · Xp21 contiguous gene deletion syndrome