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"

9 matching diseasesClear search ×

Langer mesomelic dysplasia

Mesomelic dwarfism, Langer type

ORPHA:2632

Acromesomelic dysplasia, Hunter-Thompson type

Acromesomelic dwarfism

ORPHA:968

Campomelic dysplasia

Campomelic dwarfism

ORPHA:140

Laron syndrome

Complete growth hormone insensitivity · GH receptor deficiency

ORPHA:633

Mesomelic dwarfism, Reinhardt-Pfeiffer type

Reinhardt-Pfeiffer mesomelic dysplasia · Reinhardt-Pfeiffer syndrome

ORPHA:2634

Mesomelic dysplasia, Kantaputra type

Kantaputra mesomelic dysplasia · MDK

ORPHA:1836

Mesomelic dysplasia, Nievergelt type

Nievergelt syndrome · Mesomelic dwarfism, Nievergelt type

ORPHA:2633

OBSOLETE: Micromelic dwarfism, Fryns type

ORPHA:2641

Robinow syndrome

Acral dysostosis with facial and genital abnormalities · Fetal face syndrome

ORPHA:97360