Rare Disease Library

Neuroferritinopathy

Adult basal ganglia disease · Ferritin-related neurodegeneration

ACys amyloidosis

CST3-related amyloidosis · Cystatin amyloidosis

Distal hereditary motor neuropathy

Distal spinal muscular atrophy · dHMN

Familial calcium pyrophosphate deposition

Calcium pyrophosphate dihydrate crystal deposition disease · Familial CC

Familial thoracic aortic aneurysm and aortic dissection

Familial TAAD · FTAAD

Familial visceral myopathy

Familial hollow visceral myopathy · Hereditary hollow visceral myopathy

Hereditary amyloidosis with primary renal involvement

Amyloidosis, Ostertag type · Familial amyloid nephropathy

Hereditary arginine vasopressin deficiency

Hereditary CDI · Hereditary neurogenic diabetes insipidus

Hereditary optic neuropathy

Hereditary palmoplantar keratoderma

Hereditary PPK · Hereditary keratosis palmoplantaris

Hereditary progressive cardiac conduction defect

Hereditary Lenègre disease · Hereditary Lev disease

Hereditary steroid-resistant nephrotic syndrome

Familial idiopathic steroid-resistant nephrotic syndrome · Hereditary SRNS

Hereditary thermosensitive neuropathy

Hereditary vascular retinopathy

HVR · Hereditary vascular retinopathy-Raynaud phenomenon-migraine syndrome

Leber hereditary optic neuropathy

LHON · Leber optic atrophy

OBSOLETE: Familial flecked retinopathy

OBSOLETE: Hereditary flecked retinopathy