Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

8 matching diseasesClear search ×

Xp21 deletion syndrome

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

ORPHA:261476

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome

AMME complex · AMME syndrome

ORPHA:86818

Carney complex

Carney syndrome · Myxoma-spotty pigmentation-endocrine overactivity syndrome

ORPHA:1359

Cloacal exstrophy

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

ORPHA:93929

Complex hereditary spastic paraplegia

Complex HSP · Complex SPG

ORPHA:102013

Femur-fibula-ulna complex

FFU complex · Femur-fibula-ulna dysostosis

ORPHA:2019

Shone complex

ORPHA:99063

Xeroderma pigmentosum-Cockayne syndrome complex

XP/CS complex

ORPHA:220295