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"

7 matching diseasesClear search ×

Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome

Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome

ORPHA:231720

Acquired pituitary hormone deficiency

ORPHA:95502

Combined pituitary hormone deficiencies, genetic forms

Familial congenital hypopituitarism · Multiple pituitary hormone deficiencies, genetic forms

ORPHA:95494

Disease associated with non-acquired combined pituitary hormone deficiency

ORPHA:95495

Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations

ORPHA:178025

Non-acquired combined pituitary hormone deficiency

Congenital combined pituitary hormone deficiency · Congenital hypopituitarism

ORPHA:467

Non-acquired pituitary hormone deficiency

ORPHA:95488