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 ×

Pseudopseudohypoparathyroidism

AHO-PPHP syndrome · Albright hereditary osteodystrophy-PPHP syndrome

ORPHA:79445

2q37 microdeletion syndrome

Albright hereditary osteodystrophy type 3 · Albright hereditary osteodystrophy-like syndrome

ORPHA:1001

Albright hereditary osteodystrophy

ORPHA:665

Hereditary sick sinus syndrome

ORPHA:166282

Pseudohypoparathyroidism type 1A

AHO-PHP syndrome Ia · Albright hereditary osteodystrophy-PHP syndrome Ia

ORPHA:79443

Pseudohypoparathyroidism with Albright hereditary osteodystrophy

ORPHA:457059

Pseudohypoparathyroidism without Albright hereditary osteodystrophy

ORPHA:457062