All patient-facing tools are free · No login required to browse
All access tools are free for patients and caregivers
All community tools are free for patients and caregivers
7 Patents Filed · HIPAA-Aligned · Free for Patients · Westwood, MA
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"
HERNS syndrome
Hereditary endotheliopathy-retinopathy-nephropathy-stroke syndrome
Genetic nephrotic syndrome
Hereditary nephrotic syndrome
HANAC syndrome
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome · Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome
Hereditary amyloidosis with primary renal involvement
Amyloidosis, Ostertag type · Familial amyloid nephropathy
Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome · Hereditary SRNS
Hereditary vascular retinopathy
HVR · Hereditary vascular retinopathy-Raynaud phenomenon-migraine syndrome
Syndromic hereditary optic neuropathy