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 ×

Wagner disease

Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy

ORPHA:898

Cancer-associated retinopathy

CAR syndrome · Paraneoplastic retinopathy

ORPHA:71505

Familial exudative vitreoretinopathy

Criswick-Schepens syndrome · FEVR

ORPHA:891

Muscle filaminopathy

FLNC-associated myofibrillar myopathy · Filamin C-related filaminopathy

ORPHA:171445

OBSOLETE: Isolated vitreoretinopathy

ORPHA:519304

OBSOLETE: Syndromic vitreoretinopathy

ORPHA:519327

Vitreoretinopathy

ORPHA:98668