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 ×

Acromesomelic dysplasia, Hunter-Thompson type

Acromesomelic dwarfism

ORPHA:968

Acromelic dysplasia

ORPHA:93436

Acromesomelic dysplasia

ORPHA:93437

Campomelic dysplasia

Campomelic dwarfism

ORPHA:140

Langer mesomelic dysplasia

Mesomelic dwarfism, Langer type

ORPHA:2632

Mesomelic dwarfism, Reinhardt-Pfeiffer type

Reinhardt-Pfeiffer mesomelic dysplasia · Reinhardt-Pfeiffer syndrome

ORPHA:2634

Mesomelic dysplasia, Nievergelt type

Nievergelt syndrome · Mesomelic dwarfism, Nievergelt type

ORPHA:2633

Robinow syndrome

Acral dysostosis with facial and genital abnormalities · Fetal face syndrome

ORPHA:97360