ATS, Nephropathy and Deafness, Alport Syndrome-Like Hereditary Nephritis, ASLHN, ASLN

COL4A5, Collagen of Basement Membrane, Alpha-5 Chain,

AUH, 3-Methylglutaconyl-CoA Hydratase

MGA, Type I, MGA1, 3-@Methylglutaconyl-CoA Hydratase Deficiency, 3-MG-CoA-Hydratase Deficiency

APS1APS I, Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy, APECED, Autoimmune Polyglandular Syndrome, Type I, Polyglandular Autoimmine Syndrome, Type I, PGA I, Hypoadrenocorticism with Hypoparathyroidism and Superficial Moniliasis, Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant, Polyglandular Deficiency Syndrome, Persian-Jewish TypeYPE

AIRE

CYB5R3, B5R, NADH-Diaphorase 1, DIA1

NADH-Dependent Methemoglobin Reductase Deficiency, NADH-Cytochrome b5 Reductase Deficiency, Methemoglobinemia, Congenital, Autosomal Recessive, Methemoglobinemia Type I, Methemoglobinemia, Type II, NADH-Cytochrome b5 Reductase Deficiency, Type I, NADH-Ccytochrome b5 Reductase Deficiency, Type II,

CPS1, Venoocclusive Disease after Bone Marrow Transplantation, Susceptibility to