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"

10 matching diseasesClear search ×

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

RVCL-S · Retinal vasculopathy and cerebral leukoencephalopathy

ORPHA:247691

Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy

Maeda syndrome · CARASIL

ORPHA:199354

Cerebroretinal vasculopathy

CRV · Grand-Kaine-Fulling syndrome

ORPHA:3421

COL4A1/2-related familial vascular leukoencephalopathy

COL4A-related brain small vessel disease with hemorrhage · COL4A-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome

ORPHA:36383

Cree leukoencephalopathy

ORPHA:99854

Fowler vasculopathy

Cerebral proliferative glomeruloid vasculopathy · Encephaloclastic proliferative vasculopathy

ORPHA:221126

Leukoencephalopathy with calcifications and cysts

Labrune syndrome · LCC

ORPHA:542310

Rare genetic retinal vasculopathy

ORPHA:522576

Rare retinal vasculopathy

ORPHA:519317

Susac syndrome

Retinocochleocerebral vasculopathy

ORPHA:838