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"

200 matching diseasesClear search ×

Acral self-healing collodion baby

Acral SHCB

ORPHA:281127

Acrodysplasia scoliosis

Prata-Liberal-Goncalves syndrome · Brachydactyly-scoliosis-carpal fusion syndrome

ORPHA:2956

Acromelic dysplasia

ORPHA:93436

Acromelic frontonasal dysplasia

Acromelic frontonasal dysostosis · AFND

ORPHA:1827

Acromesomelic dysplasia

ORPHA:93437

Acromesomelic dysplasia, Grebe type

Chondrodysplasia, Grebe type

ORPHA:2098

Acromesomelic dysplasia, Hunter-Thompson type

Acromesomelic dwarfism

ORPHA:968

Acromesomelic dysplasia, Maroteaux type

ORPHA:40