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"

6 matching diseasesClear search ×

CIDEC-related familial partial lipodystrophy

FPLD5 · CIDEC-related FPLD

ORPHA:435651

AKT2-related familial partial lipodystrophy

AKT2-related FPLD

ORPHA:79085

LIPE-related familial partial lipodystrophy

FPLD6 · LIPE-related FPLD

ORPHA:435660

PLIN1-related familial partial lipodystrophy

FPLD4 · PLIN1-related FPLD

ORPHA:280356

PPARG-related familial partial lipodystrophy

FPLD3 · Familial partial lipodystrophy type 3

ORPHA:79083

RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome

RAC2-related CID · Combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome related to Rac family small GTPase 2

ORPHA:692812