GARD Rare Disease Listings



GARD Summary
ACDC

Also known as: Arterial calcification due to deficiency of CD73 Calcification of joints and arteries; CALJA Arterial calcification and distal joint calcification Arterial calcification due to CD73 deficiency


GARD Summary
Aceruloplasminemia

Also known as: Ceruloplasmin deficiency Familial apoceruloplasmin deficiency Hereditary ceruloplasmin deficiency Hypoceruloplasminemia Systemic hemosiderosis due to aceruloplasminemia





GARD Summary
Achard syndrome

Also known as: Arachnodactyly, receding lower jaw and joint laxity of hands/feet



GARD Summary
Acheiropody

Also known as: Acheiropodia ACHP Acheiropody, Brazilian type



GARD Summary
Achondrogenesis type 1A

Also known as: ACG1A Achondrogenesis Houston-Harris type Houston-Harris achondrogenesis



GARD Summary
Achondrogenesis type 2

Also known as: ACG2 Achondrogenesis, Langer-Saldino type Langer-Saldino achondrogenesis Chondrogenesis imperfecta



GARD Summary
Achromatopsia 2

Also known as: ACHM2 Colorblindness, total RMCH2 Rod monochromatism 2 Rod monochromacy 2