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 ×

Pituitary deficiency due to empty sella turcica syndrome

Hypopituitarism due to empty sella turcica syndrome

ORPHA:91354

Hypopituitarism-microphthalmia syndrome

Kaplowitz-Bodurtha syndrome

ORPHA:2244

OBSOLETE: Choroideremia-hypopituitarism syndrome

OBSOLETE: CHM-hypopituitarism syndrome

ORPHA:1434