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"

4 matching diseasesClear search ×

Calcifying aponeurotic fibroma

Juvenile aponeurotic fibromatosis · Keasby tumor

ORPHA:199260

Desmoid tumor

aggressive fibromatosis · desmoid-type fibromatosis

ORPHA:ORPHA:873

HJV or HAMP-related hemochromatosis

Juvenile hemochromatosis · Hemochromatosis type 2

ORPHA:79230

Juvenile hyaline fibromatosis

Murray-Puretic-Drescher syndrome · Puretic syndrome

ORPHA:2028