ssiemfolder

| 14.1.3. Wilson disease (277900)
| 1.6.5.2. Hyperlysinaemia type II (268700) | Saccharopine dehydrogenase deficiency | Saccharopinuria
| 13.2.11. Combined defect in adenosylcobalamin and methylcobalamin synthesis-cblF (277380) | Methylmalonic aciduria and homocystinuria, cblF type | Methylmalonic acidemia and homocystinuria, cblF type | Lysosomal membrane cobalamin transporter deficiency
| 1.6.5.1. Hyperlysinaemia type I (238700) | Lysine : 2-oxoglutarate reductase deficiency
| 13.7.3. Microcephaly, Amish type (607196) | Mitochondrial thiamine pyrophosphate carrier deficiency (SLC25A19)
| 13.7.2. Biotin-responsive basal ganglia disease (607483) | THTR2 deficiency (SLC19A3)
| 13.7.1. Thiamine-responsive megaloblastic anemia syndrome (249270) | THTR1 deficiency (SLC19A2)
| 14.1.1. Menkes syndrome (309400)
| 9.2.3.1. SLC35D1 deficiency (610804)
| 13.5.1. Biotinidase deficiency (253260)
| 13.5.2. Holocarboxylase synthetase deficiency (253270)
| 6.3.2. Byler disease | Progressive familial intrahepatic cholestasis type 1 | ATP8B1 deficiency
| 2.8.9.4. Cardiac muscle phosphorylase kinase deficiency (261740)
| 2.8.9.3. Muscle phosphorylase kinase deficiency (300559) | GSD IXd
| 2.8.9.2. Hepatic and muscle phosphorylase kinase deficiency (261750) | GSD Ixb
| 2.8.9.1. Hepatic phosphorylase kinase deficiency (306000) | GSD IXa
| 6.3.1. Bilirubin UDP-glucuronosyltransferase 1 deficiency | Crigler-Najjar disease | Gilbert disease
| 4.1. Disorders of pyruvate metabolism
| 4.2. Disorders of the citric acid cycle
| 4.4.2.1. Mohr-Tranebjaerg syndrome (TIMM8A) (300356)
| 1.5.4. Cystathionine beta-synthase deficiency (263200) | Homocystinuria | CBS deficiency
| 1.5.3. S-adenosylhomocysteine hydrolase deficiency (180960) | AHCY | SAHH | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
| 4.5. Unspecified mitochondrial disorders
| 10.3.6.1. Saposin A deficiency (611722) | Krabbe disease due to Saposin A deficiency
| 4.6. Disorders of creatine metabolism
| 13.8.1.2. Mo cofactor deficiency, complementation group B (603708) | MOCS2 deficiency
| 10.6. Other lysosomal disorders
| 13.8.1.1. Mo cofactor deficiency, complementation group A (603707) | MOCS1 deficiency
| 8.5.2. Familial hypobetalipoproteinaemia (200100) | Apolipoprotein B deficiency
| 8.5.3. Anderson disease
| 8.5.1. Familial abetalipoproteinaemia (200100) | Microsomal triglyceride transfer protein (MTTP) deficiency
| 10.3.6.4. Saposin D deficiency
| 6.2. Disorders of bile acid biosynthesis
| 14.5.3.4. Isolated familial intestinal hypomagnesaemia
| 4.3.1.2.10. Maternally inherited deafness and diabetes, MIDD (520000)
| 14.5.3.2. Familial hypokalaemia - hypomagnesaemia
| 14.5.3.3. Familial hypomagnesaemia - hypercalciuria
| 14.5.3.1. Isolated familial renal hypomagnesaemia
| 11.1.3.7. PEX12 deficiency (601758)
| 6.1.5. Desmosterolosis (602398) | Desmosterol reductase deficiency | 3β-hydroxysterol- Δ24-reductase deficiency
| 6.1.6. Lathosterolosis (607330) | 3β-hydroxysterol Δ5-desaturase deficiency
| 11.1.3.4. PEX5 deficiency (600414)
| 9.4.9.1. V0 subunit A2 of vesicular H(+)-ATPase deficiency (611716) | ATP6VOA2-CDG | COPII component SEC23B | SEC23B-CDG(CDAII)
| 11.1.3.1. PEX1 deficiency (602136)
| 3.3.6. Multiple acyl-CoA dehydrogenase deficiency (231680) | Glutaric aciduria type II
| 3.3.5. 3-alpha-hydroxyacyl- CoA dehydrogenase deficiency (231530) | HADH deficiency | Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency | SCHAD deficiency
| 3.3.4. Short - chain acyl CoA dehydrogenase deficiency (201470) | SCAD deficiency
| 3.3.3. Medium - chain acyl CoA dehydrogenase deficiency (201450) | MCAD deficiency
| 3.3.2. Mitochondrial trifunctional protein deficiency (143450)
| 3.3.1. Very long - chain acyl CoA dehydrogenase deficiency (201475) | VLCAD deficiency
| 8.3.3. Hepatic lipase deficiency
| 189905" | Transcobalamin I deficiency | TCN 1 deficiency | TC I, T1 deficiency | Vitamin B12-binding protein 1 deficiency | Cobalophilin deficiency | B12-binding alpha-globulin deficiency
| 10.1.8. MPS IVB, Morquio B disease (253010) | Beta-galactosidase deficiency
| 10.1.9. MPS VI, Maroteaux - Lamy disease (253200) | N-acetylgalactosamine - 4 - sulphatase deficiency | Arylsulphatase B deficiency
| 10.1.2. MPS II, Hunter disease (309900) | Iduronate 2-sulphatase deficiency
| 10.1.3. MPS IIIA, Sanfilippo A disease (252900) | Heparan - N - sulphatase deficiency
| 10.1.1. MPS I, Hurler, Scheie disease (252800) | Alpha-iduronidase deficiency
| 10.1.6. MPS IIID, Sanfilippo D disease (252940) | N-acetylglucosamine-6-sulphatase deficiency
| 10.1.7. MPS IVA, Morquio A disease (253000) | N-acetylgalactosamine-6-sulphatase deficiency
| 10.1.4. MPS IIIB, Sanfilippo B disease (252920) | N-acetyl-alpha-D-glucosaminidase deficiency
| 10.1.5. MPS IIIC, Sanfilippo C disease (252930) | Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency
| 6.1. Disorders of sterol biosynthesis
| 8.1.2. Sitosterolaemia (210250) | Phytosterolaemia | Sitosterolaemia with xanthomatosis
| 8.1.1. Disorder of low density lipoprotein receptor (143890) | Fredrickson type IIa hyperlipoproteinaemia
| 15.1. Disorders and variants of cytochrome P450-mediated oxidation
| 15.3. Disorders and variants of xenobiotics conjugation
| 15.2. Disorders and variants of other enzymes that oxidise xenobiotics
| 10.6.9.3. Pycnodysostosis (265800) | Cathepsin K deficiency
| 10.6.9.2. Papillon-Lefèvre syndrome (245000) | Cathepsin C deficiency
| 10.6.9.1. Galactosialidosis (256540) | Lysosomal protective protein deficiency | Cathepsin A deficiency
| 13.3. Disorders of pterin metabolism
| 13.2. Disorders of cobalamin absorption, transport and metabolism
| 13.1. Disorders of folate metabolism and transport
| 13.7. Disorders of thiamine metabolism
| 13.6. Disorders of pyridoxine metabolism
| 13.5. Disorders of biotin metabolism
| 13.4. Disorders of vitamin D metabolism and transport
| 6.4.1. X-linked ichthyosis (308100) | Steroid sulphatase deficiency | Steroid sulphatase deficiency due to contiguous gene deletion
| 13.9. Other disorders of vitamins and cofactors
| 13.8. Disorders of molybdenum cofactor metabolism
| 5.1.10.4. X-linked sensorineural deafness (304500)
| 13.6.1. Pyridoxine-dependent seizures (266100) | Alpha-amino adipic semialdehyde (AASA) dehydrogenase deficiency | Antiquitin (ALDH7A1) gene defect
| 4.4.1.1. Mitochondrial phosphate carrier deficiency (SLC25A3) (600370)
| 4.4.1.3. Mitochondrial glutamate carrier 1 deficiency (SLC25A22) (609302)
| 4.4.1.2. Mitochondrial aspartate glutamate carrier 1 deficiency (SLC25A12) (603667)
| 3.5.1. Long - chain acyl CoA dehydrogenase deficiency (201460)
| 4.4.1.4. Mitochondrial carrier SLC25A38, haem biosynthesis, sideroblastic anaemia (610819)
| 3.5.2. Malonyl CoA decarboxylase deficiency (248360) | Malonic aciduria
| 5.1.10.1. Phosphoribosyl pyrophosphate synthase superactivity (300661)
| 10.3.4. Krabbe disease (245200) | Galactocerebrosidase deficiency
| 10.3.5. Metachromatic leukodystrophy (250100) | Arylsulphatase A deficiency
| 10.3.6. Prosaposin deficiency (176801)
| 10.3.7. Fabry disease (301500) | Alpha-galactosidase deficiency
| 10.3.1. GM1-gangliosidosis (230500) | Beta-galactosidase deficiency
| 10.3.2. GM2-gangliosidosis (268800)
| 10.3.3. Gaucher disease (230800) | Glucocerebrosidase deficiency
| 5.1.10.3. Arts syndrome (301835)
| 10.3.8. Farber disease (228000) | Ceramidase deficiency
| 10.3.9. Niemann-Pick disease type A or B (257200) | Sphingomyelinase deficiency
| 11.4. Other peroxisomal disorders

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