Rare Disease Library

OBSOLETE: Hemochromatosis type 4

OBSOLETE: Ferroportin disease · OBSOLETE: Hemochromatosis due to defect in ferroportin

Autosomal dominant distal hereditary motor neuropathy

Autosomal dominant dHMN · Autosomal dominant distal spinal muscular atrophy

Autosomal dominant hereditary axonal motor and sensory neuropathy

Autosomal dominant hereditary chronic pancreatitis

Autosomal dominant hereditary sensory and autonomic neuropathy

Autosomal dominant optic atrophy and cataract

Autosomal dominant optic atrophy type 3 · OPA3, autosomal dominant

Autosomal dominant secondary polycythemia

Autosomal dominant secondary erythrocytosis

Congenital hereditary endothelial dystrophy type I

Autosomal dominant CHED · Autosomal dominant congenital hereditary endothelial dystrophy

Hereditary gingival fibromatosis

Autosomal dominant gingival fibromatosis · Autosomal dominant gingival hyperplasia

OBSOLETE: Autosomal dominant childhood-onset cortical cataract

OBSOLETE: Autosomal dominant childhood-onset progressive cortical cataract

OBSOLETE: Autosomal dominant coarctation of aorta

OBSOLETE: Autosomal dominant focal dystonia, DYT7 type

OBSOLETE: Adult-onset focal torsion dystonia · OBSOLETE: Adult-onset idiopathic torsion dystonia

OBSOLETE: Autosomal dominant Opitz G/BBB syndrome

OBSOLETE: Autosomal dominant Opitz BBB/G syndrome · OBSOLETE: ADOS

OBSOLETE: Autosomal dominant spastic paraplegia type 9

OBSOLETE: SPG9

OBSOLETE: Familial cervical artery dissection

OBSOLETE: Familial CAD · OBSOLETE: Hereditary CAD

OBSOLETE: Hemochromatosis type 5

Rare hereditary hemochromatosis

Iron overload disease

TFR2-related hemochromatosis

Hereditary hemochromatosis type 3