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 ×

LIPE-related familial partial lipodystrophy

FPLD6 · LIPE-related FPLD

ORPHA:435660

CIDEC-related familial partial lipodystrophy

FPLD5 · CIDEC-related FPLD

ORPHA:435651

Familial partial lipodystrophy, Dunnigan type

Dunnigan syndrome · FPLD2

ORPHA:2348

Familial partial lipodystrophy, Köbberling type

FPLD1 · Familial partial lipodystrophy type 1

ORPHA:79084

PLIN1-related familial partial lipodystrophy

FPLD4 · PLIN1-related FPLD

ORPHA:280356

PPARG-related familial partial lipodystrophy

FPLD3 · Familial partial lipodystrophy type 3

ORPHA:79083