Disease ID | Source | Name | Description |
613825 | OMIM | Complement component 9 deficiency (C9D) | A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. Some patients may develop dermatomyositis. Disease susceptibility is associated with variants affecting the gene represented in this entry. |
615591 | OMIM | Macular degeneration, age-related, 15 (ARMD15) | A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. Disease susceptibility is associated with variants affecting the gene represented in this entry. |