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 |