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"

3 matching diseasesClear search ×

Fowler vasculopathy

Cerebral proliferative glomeruloid vasculopathy · Encephaloclastic proliferative vasculopathy

ORPHA:221126

Cerebroretinal vasculopathy

CRV · Grand-Kaine-Fulling syndrome

ORPHA:3421

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

RVCL-S · Retinal vasculopathy and cerebral leukoencephalopathy

ORPHA:247691