| Description | OMIM Number |
| ASPARTYLGLUCOSAMINURIA | 208400 |
| BIOTINIDASE; BTD MULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET, INCLUDED | 253260 |
| DISACCHARIDE INTOLERANCE I | 222900 |
| FRUCTOSE-1,6-BISPHOPHATASE 1; FBP1 | 229700 |
| FUCOSIDOSIS | 230000 |
| GALACTOKINASE DEFICIENCY | 230200 |
| GALACTOSEMIA | 230400 |
| GLYCOGEN STORAGE DISEASE I | 232200 |
| GLYCOGEN STORAGE DISEASE Ib | 232220 |
| GLYCOGEN STORAGE DISEASE II | 232300 |
| GLYCOGEN STORAGE DISEASE III | 232400 |
| GLYCOGEN STORAGE DISEASE IV | 232500 |
| GLYCOGEN STORAGE DISEASE V | 232600 |
| GLYCOGEN STORAGE DISEASE VI | 232700 |
| GLYCOGEN STORAGE DISEASE VII | 232800 |
| GLYCOGEN STORAGE DISEASE VIII (GLYCOGEN STORAGE DISEASE IX, INCLUDED) | 306000 |
| HOLOCARBOXYLASE SYNTHETASE DEFICIENCY | 253270 |
| HURLER SYNDROME | 607014 |
| HURLER-SCHEIE SYNDROME | 607015 |
| HYALURONIDASE DEFICIENCY | 601492 |
| LACTIC ACIDOSIS, CONGENITAL INFANTILE | 245400 |
| LEIGH SYNDROME | 256000 |
| MANNOSIDOSIS ALPHA B LYSOSOMAL | 248500 |
| MEDITERRANEAN FEVER, FAMILIAL; MEFV | 249100 |
| MUCOLIPIDOSIS II; ML2; ML II | 252500 |
| MUCOLIPIDOSIS III | 252600 |
| MUCOLIPIDOSIS III COMPLEMENTATION GROUP C | 252605 |
| MUCOLIPIDOSIS IV | 252650 |
| MUCOPOLYSACCHARIDOSIS TYPE II | 309900 |
| MUCOPOLYSACCHARIDOSIS TYPE IIIA | 252900 |
| MUCOPOLYSACCHARIDOSIS TYPE IIIB | 252920 |
| MUCOPOLYSACCHARIDOSIS TYPE IIIC | 252930 |
| MUCOPOLYSACCHARIDOSIS TYPE IIID | 252940 |
| MUCOPOLYSACCHARIDOSIS TYPE IVA | 253000 |
| MUCOPOLYSACCHARIDOSIS TYPE IVB | 253010 |
| MUCOPOLYSACCHARIDOSIS TYPE VI | 253200 |
| MUCOPOLYSACCHARIDOSIS TYPE VII | 253220 |
| NEURAMINIDASE DEFICIENCY | 256550 |
| NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY | 256540 |
| OXALOSIS I | 259900 |
| OXALOSIS II | 260000 |
| PHOSPHOGLYCERATE KINASE 1; PGK1 | 311800 |
| PYRUVATE CARBOXYLASE DEFICIENCY | 266150 |
| PYRUVATE DECARBOXYLASE DEFICIENCY | 312170 |
| SALLA DISEASE | 604369 |
| SCHEIE SYNDROME | 607016 |
| SIALIC ACID STORAGE DISEASE; SIASD | 269920 |
| TRANSTHYRETIN; TTR | 176300 |
| TRICARBOXYLIC ACID CYCLE, DEFECT OF | 275370 |
| WERNICKE-KORSAKOFF SYNDROME | 277730 |
