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"

3 matching diseasesClear search ×

X-linked acrogigantism

Hereditary infantile gigantism · Hereditary pituitary hyperplasia

ORPHA:300373

Congenital hereditary endothelial dystrophy type II

Congenital hereditary endothelial dystrophy type 2 · Infantile hereditary endothelial dystrophy

ORPHA:293603

Pituitary gigantism

Hypophyseal gigantism · Infantile and juvenile forms of acromegaly

ORPHA:99725