| Description |
OMIM Number |
| 3-@HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY |
246450 |
| ALBINISM OCULOCUTANEOUS TYPE IA; OCA1A |
203100 |
| ALKAPTONURIA |
203500 |
| ARGININEMIA |
207800 |
| ARGININOSUCCINIC ACIDURIA |
207900 |
| CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY HYPERAMMONEMIA DUE TO |
237300 |
| CARNOSINEMIA |
212200 |
| CITRULLINEMIA CLASSIC |
215700 |
| CYSTATHIONINURIA |
219500 |
| CYSTIC FIBROSIS; CF |
219700 |
| CYSTINOSIS, BENIGN OR ADULT NONNEPHROPATHIC TYPE |
219750 |
| CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE |
219900 |
| CYSTINOSIS, NEPHROPATHIC; CTNS |
219800 |
| CYSTINURIA; CSNU |
220100 |
| D-GLYCERICACIDEMIA |
220120 |
| GLUTARICACIDEMIA I |
231670 |
| GLUTARICACIDURIA IIA |
231680 |
| GYRATE ATROPHY OF CHOROID AND RETINA; GACR |
258870 |
| HARTNUP DISORDER |
234500 |
| HOLOCARBOXYLASE SYNTHETASE DEFICIENCY |
253270 |
| HOMOCYSTINURIA |
236200 |
| HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY MTHFR DEFICIENCY, THERMOLABILE TYPE, INCLUDED |
236250 |
| HYPERGLYCINEMIA, ISOLATED NONKETOTIC, TYPE I |
238300 |
| HYPERGLYCINEMIA, ISOLATED NONKETOTIC, TYPE II |
238310 |
| HYPERLYSINEMIA |
238700 |
| HYPERPIPECOLATEMIA |
239400 |
| ISOVALERICACIDEMIA; IVA |
243500 |
| MAPLE SYRUP URINE DISEASE |
248600 |
| METHIONINE ADENOSYLTRANSFERASE DEFICIENCY |
250850 |
| METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE |
277400 |
| METHYLMALONICACIDURIA DUE TO METHYLMALONIC CoA MUTASE DEFICIENCY |
251000 |
| METHYLMALONICACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl A |
251100 |
| METHYLMALONICACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl B |
251110 |
| NEPHROSIS 1, CONGENITAL, FINNISH TYPE; NPHS1 |
256300 |
| ORNITHINE TRANSCARBAMYLASE DEFICIENCY HYPERAMMONEMIA DUE TO |
311250 |
| PHENYLKETONURIA; PKU1 |
261600 |
| PROPIONIC ACIDEMIA |
606054 |
| PYROGLUTAMICACIDURIA |
266130 |
| TYROSINE TRANSAMINASE DEFICIENCY |
276600 |
| TYROSINEMIA, TYPE I |
276700 |
| VITAMIN B12 METABOLIC DEFECT, TYPE 2 |
277410 |
