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"

6 matching diseasesClear search ×

Hydrops fetalis

Fetal anasarca · Fetal hydrops

ORPHA:1041

Autosomal dominant generalized dystrophic epidermolysis bullosa

Generalized DDEB

ORPHA:231568

Generalized galactose epimerase deficiency

Generalized GALE deficiency · Generalized GALE-D

ORPHA:308487

Generalized peeling skin syndrome

Generalized PSS · Generalized deciduous skin

ORPHA:263543

Generalized pseudohypoaldosteronism type 1

Autosomal recessive pseudohypoaldosteronism type 1 · Autosomal recessive PHA1

ORPHA:171876

Immune hydrops fetalis

IHF · Immune HF

ORPHA:364013