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"

14 matching diseasesClear search ×

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis

FHHNC · Michellis-Castrillo syndrome

ORPHA:306516

3MC syndrome

Malpuech-Michels-Mingarelli-Carnevale syndrome · Craniofacial-ulnar-renal syndrome

ORPHA:293843

Cancer-associated retinopathy

CAR syndrome · Paraneoplastic retinopathy

ORPHA:71505

Carnevale syndrome

3MC2 syndrome · Carnevale-Krajewska-Fischetto syndrome

ORPHA:2998

Costello syndrome

FCS syndrome · Faciocutaneoskeletal syndrome

ORPHA:3071

Craniosynostosis-anal anomalies-porokeratosis syndrome

CAP syndrome · CDAGS syndrome

ORPHA:85199

Michels syndrome

3MC1 syndrome · Oculopalatoskeletal syndrome

ORPHA:2506

Micro syndrome

WARBM · Warburg micro syndrome

ORPHA:2510

Microcephaly-capillary malformation syndrome

MIC-CAP syndrome · MIC-CM syndrome

ORPHA:294016

Mills syndrome

ORPHA:94091

Mitchell Syndrome

ORPHA:631248

Paroxysmal nocturnal hemoglobinuria

Marchiafava-Micheli disease · Marchiafava-Micheli syndrome

ORPHA:447

Postaxial acrofacial dysostosis

Miller syndrome · POADS

ORPHA:246

Toriello-Carey syndrome

Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome

ORPHA:3338