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"

10 matching diseasesClear search ×

Mesomelic dwarfism, Reinhardt-Pfeiffer type

Reinhardt-Pfeiffer mesomelic dysplasia · Reinhardt-Pfeiffer syndrome

ORPHA:2634

Acromesomelic dysplasia

ORPHA:93437

Langer mesomelic dysplasia

Mesomelic dwarfism, Langer type

ORPHA:2632

Mesomelia-synostoses syndrome

8q13 microdeletion syndrome · Del(8)q(13)

ORPHA:2496

Mesomelic and rhizo-mesomelic dysplasia

ORPHA:93438

Mesomelic dwarfism-cleft palate-camptodactyly syndrome

Reardon-Hall-Slaney syndrome · Mesomelic dysplasia, Reardon type

ORPHA:2631

Mesomelic dysplasia, Kantaputra type

Kantaputra mesomelic dysplasia · MDK

ORPHA:1836

Mesomelic dysplasia, Nievergelt type

Nievergelt syndrome · Mesomelic dwarfism, Nievergelt type

ORPHA:2633

Mesomelic dysplasia, Savarirayan type

Mesomelic dysplasia with absent fibulas and triangular tibias · Triangular tibia-fibular aplasia syndrome

ORPHA:85170

Upper limb mesomelic dysplasia, type Fryns

Fryns-Hofkens-Fabry syndrome

ORPHA:2497