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"

6 matching diseasesClear search ×

HANAC syndrome

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome · Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome

ORPHA:73229

Genetic nephrotic syndrome

Hereditary nephrotic syndrome

ORPHA:564127

Hereditary amyloidosis with primary renal involvement

Amyloidosis, Ostertag type · Familial amyloid nephropathy

ORPHA:85450

Hereditary sensory neuropathy-deafness-dementia syndrome

HSN1E · HSAN1E

ORPHA:456318

HERNS syndrome

Hereditary endotheliopathy-retinopathy-nephropathy-stroke syndrome

ORPHA:63261

Syndromic hereditary optic neuropathy

ORPHA:441434