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 ×

Pyle disease

SFRP4-related Pyle disease · Metaphyseal dysplasia, Pyle type

ORPHA:3005

Erythema palmare hereditarium

Lane disease · Red palms disease

ORPHA:231031

IgG4-related disease

IgG4-related sclerosing disease · Immunoglobulin G4-related sclerosing disease

ORPHA:284264

IgG4-related kidney disease

ORPHA:449395

IgG4-related ophthalmic disease

ORPHA:449563

IgG4-related systemic disease

ORPHA:596448

IgG4-related thyroid disease

Riedel disease · Riedel thyroiditis

ORPHA:64744