id | gene | OMIM (gene) | disease name (phenotype) | inheritance |
|---|---|---|---|---|
| 1 | AAAS | 605378 | Triple-A syndrome (achalasia-addisonianism-alacrimia) | Autosomal recessive |
| 1 | AAAS | 605378 | Triple-A syndrome (achalasia-addisonianism-alacrimia) | Autosomal recessive |
| 2 | ABCA12 | 607800 | Ichthyosis, congenital, autosomal recessive, type 4A; ICAR, type 4B (harlequin) | Autosomal recessive |
| 2 | ABCA12 | 607800 | Ichthyosis, congenital, autosomal recessive, type 4A; ICAR, type 4B (harlequin) | Autosomal recessive |
| 3 | ABCA3 | 601615 | Surfactant metabolism dysfunction, pulmonary, type 3 | Autosomal recessive |
| 3 | ABCA3 | 601615 | Surfactant metabolism dysfunction, pulmonary, type 3 | Autosomal recessive |
| 4 | ABCA4 | 601691 | Stargardt disease type 1; Cone-rod dystrophy type 3 | Autosomal recessive |
| 4 | ABCA4 | 601691 | Stargardt disease type 1; Cone-rod dystrophy type 3 | Autosomal recessive |
| 5 | ABCB11 | 603201 | Cholestasis, benign recurrent intrahepatic, type 2; Cholestasis, progressive familial intrahepatic, type 2 | Autosomal recessive |
| 5 | ABCB11 | 603201 | Cholestasis, benign recurrent intrahepatic, type 2; Cholestasis, progressive familial intrahepatic, type 2 | Autosomal recessive |
| 6 | ABCC8 | 600509 | Hyperinsulinemic hypoglycemia, type 1 (congenital hyperinsulinism); Permanent neonatal diabetes mellitus (PNDM) | Autosomal recessive |
| 6 | ABCC8 | 600509 | Hyperinsulinemic hypoglycemia, type 1 (congenital hyperinsulinism); Permanent neonatal diabetes mellitus (PNDM) | Autosomal recessive |
| 7 | ABCD4 | 603214 | Methylmalonic aciduria and homocystinuria, cblJ type | Autosomal recessive |
| 7 | ABCD4 | 603214 | Methylmalonic aciduria and homocystinuria, cblJ type | Autosomal recessive |
| 8 | ACAD8 | 604773 | Isobutyryl-CoA dehydrogenase deficiency | Autosomal recessive |
| 8 | ACAD8 | 604773 | Isobutyryl-CoA dehydrogenase deficiency | Autosomal recessive |
| 9 | ACAD9 | 611103 | Acyl-CoA dehydrogenase 9 deficiency (mitochondrial complex I deficiency, nuclear, type 20) | Autosomal recessive |
| 9 | ACAD9 | 611103 | Acyl-CoA dehydrogenase 9 deficiency (mitochondrial complex I deficiency, nuclear, type 20) | Autosomal recessive |
| 10 | ACADM | 607008 | Medium-chain acyl-CoA dehydrogenase deficiency | Autosomal recessive |
| 10 | ACADM | 607008 | Medium-chain acyl-CoA dehydrogenase deficiency | Autosomal recessive |
|
