Rare Disease Index

Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism

rare disease

disorder characterized by loss of optic nerve fibers. It may be inherited or acquired. Acquired causes include ischemia, optic nerve neuropathy, glaucoma, trauma, radiation, brain tumors, and multiple sclerosis. It leads to vision disturbances

human disease

human disease

human disease

human disease

human disease

human disease

human disease

human disease

human disease

genetic disease that is characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of the central nervous system and has material basis in X-linked inheritance of an OFD gene

amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids

syndrome or disorder of mental function whose cause is alleged to be known as organic (physiologic) rather than purely of the mind

urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase

amino acid metabolic disorder that has material basis in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood

human disease

orofaciodigital syndrome characterized_by polycystic kidney disease and variable involvement of the central nervous system and has_material_basis_in X-linked inheritance of the OFD1 gene

Human disease

Human disease

Human disease

Human disease

Human disease

human disease