Rare Disease Library

Genetic nephrotic syndrome

Hereditary nephrotic syndrome

Congenital and infantile nephrotic syndrome

Congenital nephrotic syndrome, Finnish type

Finnish congenital nephrosis

Galloway-Mowat syndrome

Galloway syndrome · Microcephaly-hiatus hernia-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 hyperferritinemia-cataract syndrome

Hereditary hyperferritinemia-cataract disease · HHCS

Hereditary mixed polyposis syndrome

HMPS

Hereditary neuroendocrine tumor of small intestine

Small intestine hereditary neuroendocrine tumor · Hereditary neuroendocrine tumor of small bowel

Hereditary orotic aciduria

Orotidylic decarboxylase deficiency · Uridine monophosphate synthetase deficiency

Hereditary periodic fever syndrome

Hereditary sensory neuropathy-deafness-dementia syndrome

HSN1E · HSAN1E

Hereditary sick sinus syndrome

Hereditary site-specific ovarian cancer syndrome

Hereditary steroid-resistant nephrotic syndrome

Familial idiopathic steroid-resistant nephrotic syndrome · Hereditary SRNS

HERNS syndrome

Hereditary endotheliopathy-retinopathy-nephropathy-stroke syndrome

Idiopathic nephrotic syndrome

Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance

Idiopathic SSNS with secondary steroid resistance · Secondary steroid-resistant nephrotic syndrome

Leigh syndrome with nephrotic syndrome

Infantile subacute necrotizing encephalopathy with nephrotic syndrome · Leigh disease with nephrotic syndrome

NLRP12-associated hereditary periodic fever syndrome

FCAS2 · Familial cold autoinflammatory syndrome type 2

Senior-Boichis syndrome

Boichis disease · Nephronophthisis-hepatic fibrosis syndrome

Syndromic hereditary optic neuropathy

Woolly hair

Familial woolly hair syndrome · Familial wooly hair syndrome