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"

5 matching diseasesClear search ×

Hydrops fetalis

Fetal anasarca · Fetal hydrops

ORPHA:1041

Hand-foot-genital syndrome

HFGS · Hand-foot-uterus syndrome

ORPHA:2438

MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome

ORPHA:597874

Non-HFE-related hemochromatosis

ORPHA:648569

Symptomatic form of HFE-related hemochromatosis

Symptomatic form of classic hemochromatosis · Symptomatic form of hemochromatosis type 1

ORPHA:465508