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"

7 matching diseasesClear search ×

Rickettsial disease

Rickettsiae disease

ORPHA:102021

IgG4-related thyroid disease

Riedel disease · Riedel thyroiditis

ORPHA:64744

Medullary sponge kidney

Cacchi-Ricci disease · MSK

ORPHA:1309

Proximal myotonic myopathy

Myotonic dystrophy type 2 · Proximal myotonic dystrophy

ORPHA:606

Rickettsialpox

ORPHA:83312

Spotted fever rickettsiosis

Spotted fever rickettsiae disease

ORPHA:102022

Typhus-group rickettsiosis

Typhus-group rickettsiae disease

ORPHA:102023