ssiemfolder

| 4.3.2.10.10.Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation, LBSL (DARS2) (611105)
| 9.3.1.2. Phosphatidylinositolglycan, class M deficiency (610273) | PIGM deficiency
| 9.3.1.1. Lactosylceramide alpha-2,3-sialyltransferase deficiency (609056) | SIAT9 deficiency
| 11.1.3.12. PEX26 deficiency (608666)
| 11.1.3.11. PEX19 deficiency (600279)
| 11.1.3.10. PEX16 deficiency (603360)
| 9. Congenital disorders of glycosylation and other disorders of protein modification" | CDG
| 8. Disorders of lipid and lipoprotein metabolism"
| 7. Disorders of porphyrin and haem metabolism"
| 6. Disorders of the metabolism of sterols"
| 5. Disorders in the metabolism of purines, pyrimidines and nucleotides"
| 4. Disorders of energy metabolism"
| 3. Disorders of fatty acid and ketone body metabolism"
| 2. Disorders of carbohydrate metabolism"
| 1. Disorders of amino acid and peptide metabolism"
| 4.3.1.1.3. Chronic Progressive External Ophthalmoplegia (CPEO) with Mitochondrial Myopathy [onset after 20 yrs] (n/a)
| 14.3.1. Acrodermatitis enteropathica (201100)
| 4.3.1.2.8. Maternally inherited Mitochondrial Cardiomyopathy (n/a)
| 1.2.8. 2-Methylbutyric aciduria (610006) | 2-Methylbutyryl-CoA dehydrogenase deficiency
| 1.2.9. 2-Methyl-3-hydroxybutyric aciduria (300438) | 17-beta-hydroxysteroid dehydrogenase type 10 deficiency | HSD10 deficiency | 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
| 1.2.4. Isovaleric aciduria (243500) | Isovaleryl-CoA dehydrogenase deficiency
| 1.2.5. Methylcrotonylglycinuria (210200) | Methylcrotonyl-CoA carboxylase deficiency
| 1.2.6. Methylglutaconic aciduria (250950)
| 1.2.7. 3-Hydroxy-3-methylglutaric aciduria (246450) | 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
| 1.2.1. Glutaric aciduria
| 1.2.2. Propionic aciduria (232000) | Propionyl-CoA-Carboxylase deficiency
| 1.2.3. Methylmalonic aciduria (251000)
| 14.2.1. Hereditary haemochromatosis
| 14.2.3. Haemosiderosis, acquired
| 14.2.2. Neonatal haemochromatosis
| 14.6. Disorders in the metabolism of other trace elements and metals
| 2.8. Glycogen storage disorders
| 1.8.2. Hyperprolinaemia type I | Proline oxidase deficiency
| 1.8.3. Hyperprolinaemia type II | Pyrroline-5-carboxylate dehydrogenase deficiency | Aldehyde dehydrogenase deficiency
| 1.8.1. Ornithine aminotransferase deficiency | Gyrate atrophy of retina and choroid
| 1.8.4. Hypoprolinaemia | Pyrroline-5-carboxylate synthase deficiency
| 1.8.5. Cutis laxa, autosomal recessive, type IIb (179035) | Pyrroline-5-carboxylate reductase deficiency
| 12.2.2. GABA transaminase deficiency (137150)
| 12.2.1. Succinic semialdehyde dehydrogenase deficiency (271980) | 4-Hydroxybutyric aciduria
| 13.8.1. Molybdenum cofactor deficiency (252150)
| 4.3.2.9.7. Complex IV structural subunit gene defect (COX6B1) (n/a)
| 12.2. Disorders in the metabolism of gamma-aminobutyrate
| 1.6.8. Hydroxykynureninuria (236800) | Kynureninase deficiency | Xanthurenic aciduria
| 1.6.9. Hydroxylysinuria (236900)
| 1.6.1. Histidinaemia (235800) | Histidase deficiency
| 1.6.2. Urocanase deficiency (276880)
| 1.6.3. Glutamate formiminotransferase deficiency (229100) | Forminotransferase deficiency | Forminoglutamic aciduria | Figlu-uria
| 1.6.4. Tryptophanaemia | Tryptophan-2,3-Dioxygenase deficiency
| 1.6.5. Hyperlysinaemia | Alpha-aminoadipic semialdehyde synthase deficiency
| 1.6.6. 2-Aminoadipic aciduria (204750)
| 1.6.7. 2-Oxoadipic aciduria (245130)
| 1.3.2.2. BCKD E1 beta subunit of deficiency | Maple syrup urine disease type Ib
| 4.3.1.1.1. Pearson Syndrome (557000)
| 1.4.6. Tyrosinaemia type I (276700) | Fumarylacetoacetase deficiency
| 1.4.7. Transient tyrosinaemia of the neonate
| 1.4.4. Hawkinsinuria (140350) | 4-Hydroxyphenylpyruvate hydroxylase deficiency
| 1.4.5. Alkaptonuria (203500) | Homogentisate 1,2 - dioxygenase deficiency
| 1.4.2. Tyrosinaemia type II (276600) | Tyrosine aminotransferase deficiency
| 1.4.3. Tyrosinaemia type III (276710) | 4-hydroxyphenylpyruvate dioxygenase deficiency
| 5.1.10.2. X-linked Charcot-Marie-Tooth disease-5 (311070)
| 1.4.1. Phenylalanine hydroxylase deficiency (261600) | Phenylketonuria | Mild Hyperphenylalaninaemia
| 15.4. Disorders and variants of xenobiotics transport
| 7.1.8. Porphyria cutanea tarda type I (sporadic) (176090) | Hepatic uroporphyrinogen decarboxylase deficiency
| 1.4.8. Other disorders of phenylalanine or tyrosine metabolism
| 2.7.2. Pyruvate carboxylase deficiency (266150)
| 2.7.3. Phosphoenolpyruvate carboxykinase deficiency (261650)
| 15. Disorders and variants in the metabolism of xenobiotics"
| 2.7.1. Fructose-1,6-bisphosphatase deficiency (229700)
| 13. Disorders in the metabolism of vitamins and (non-protein) cofactors"
| 12. Disorders of neurotransmitter metabolism"
| 11. Peroxisomal disorders"
| 10. Lysosomal disorders"
| 7.1.5. Congenital erythropoietic porphyria (263700) | Uroporphyrinogen III synthase deficiency
| 7.1.4. X-linked sideroblastic anaemia (XLSA) (300751) | Erythroid 5-aminolevulinate deficiency
| 7.1.7. Hereditary coproporphyria (121300) | Coproporphyrinogen oxidase deficiency
| 7.1.6. Acute intermittent porphyria (176000) | Porphobilinogen deaminase deficiency
| 7.1.1. Erythropoietic porphyria (177000) | Ferrochelatase deficiency
| 2.5.1. Primary hyperoxaluria type I (260000) | Alanine-glyoxylate aminotransferase deficiency
| 2.5.2. Primary hyperoxaluria type II (260000) | Hydroxypyruvate reductase deficiency | D-glycerate dehydrogenase deficency
| 4.3.2.1.8. Mitochondrial Neurogastrointestinal Encephalopathy, MNGIE (ECGF1) (603041)
| 4.3.2.1.7. Childhood-onset autosomal dominant optic atophy (OPA1) (165500)
| 4.3.2.1.6. Encephalomyopathic with renal tubulopathy (RRM2B) (612075)
| 4.3.2.1.5. Fatal Infantile Lactic Acidosis with methylmalonic aciduria (SUCLG1) (245400)
| 4.3.2.1.4. Encephalomyopathy with methylmalonic aciduria (SUCLA2) (612073)
| 4.3.2.1.3. Myopathic (TK2) (609560)
| 4.3.2.1.2. Hepatocerebral (DGUOK, MPV17, PEO1) (251880)
| 4.3.2.1.1. Alpers-Huttenlocher Syndrome (POLG) (203700)
| 1.11.5. Glutathione synthetase deficiency (266130)
| 1.11.4. Gamma-glutamylcysteine synthetase deficiency (230450)
| 1.11.3. Oxoprolinuria (260005) | Oxoprolinase deficiency
| 1.11.2. Cysteinylglycinase deficiency
| 1.11.1. Glutathionuria | Gamma-glutamyl transpeptidase deficiency
| 14.1.2. Occipital horn syndrome (304150)
| 2.3.2. Ribose-5-phosphate isomerase deficiency (608611)
| 2.3.3. Transaldolase deficiency (606003)
| 2.3.1. Essential pentosuria (260800) | L-xylulose reductase deficiency
| 2.1.1. Classical galactosaemia (230400) | Galactose-1-phosphate uridyltransferase deficiency
| 2.1.2. Galactokinase deficiency (230200)
| 2.1.3. Uridine diphosphate galactose-4-epimerase deficiency (230350)
| 4.3.3.1. Complex I deficiency (252010)

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