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"

8 matching diseasesClear search ×

AKT2-related familial partial lipodystrophy

AKT2-related FPLD

ORPHA:79085

Attenuated familial adenomatous polyposis

AFAP · Attenuated FAP

ORPHA:220460

Autosomal dominant Charcot-Marie-Tooth disease type 2DD

CMT2DD · ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2

ORPHA:521414

CIDEC-related familial partial lipodystrophy

FPLD5 · CIDEC-related FPLD

ORPHA:435651

Frontonasal dysplasia-alopecia-genital anomalies syndrome

ALX4-related FNDAG · Craniofrontonasal dysplasia with alopecia and hypogonadism

ORPHA:228390

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