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 ×

Pituitary gigantism

Hypophyseal gigantism · Infantile and juvenile forms of acromegaly

ORPHA:99725

3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form

PHGDH deficiency, infantile/juvenile form

ORPHA:79351

3-phosphoserine phosphatase deficiency, infantile/juvenile form

PSPH deficiency, infantile/juvenile form

ORPHA:79350

Phosphoserine aminotransferase deficiency, infantile/juvenile form

PSAT deficiency, infantile/juvenile form

ORPHA:284417