ssiemfolder

| 14.5.4. Secondary hypomagnesaemia
| 8.3.1. Familial dysbetalipoproteinaemia (107741) | Apolipoprotein E deficiency | Fredrickson type III hyperlipoproteinaemia | Remnant hyperlipidaemia
| 8.3.2. Familial combined hyperlipoproteinaemia
| 10.6.8. Danon disease (300257) | Lysosomal-associated membrane protein-2 (LAMP2) deficiency
| 13.2.2. Enterocyte intrinsic factor receptor deficiency (261100) | Imerslund Gräsbeck syndrome | Selective malabsorption of cyanocobalamin | Intrinsic factor-cobalamin receptor deficiency | IFCR deficiency
| 14.3.2. Hyperzincemia and hypercalprotectinemia (194470)
| 10.5.1. Cystinosis (219800) | Cystinosin deficiency
| 10.6.10. Hermansky-Pudlak Syndrome (203300)
| 1.9.3. Cystinuria-hypotonia syndrome (contiguous gene defect) (606407)
| 1.9.2. Cystinuria (220100)
| 1.9.1. Lysinuric protein intolerance (222700) | SLC7A7 carrier deficiency
| 8.7. Unspecified disorders of lipid and lipoprotein metabolism
| 1.9.7. Other disorders of amino acid transport
| 1.9.6. Lowe syndrome (309000)
| 1.9.5. Iminoglycinuria (242600)
| 1.9.4. Hartnup disease (234500)
| 11.4.2. Acatalasaemia (115500) | Catalase deficiency
| 11.4.1. Primary hyperoxaluria type I (259900) | Alanine:glyoxylate aminotransferase deficiency
| 3.3.2.2. Isolated deficiency of long-chain 3-ketoacyl CoA thiolase (143450)
| 1.7.3. Phosphoserine aminotransferase deficiency (610992)
| 3.3.2.1. Isolated deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase
| 1.7.5. Sarcosinaemia (268900) | Sarcosine dehydrogenase deficiency
| 1.7.4. Nonketotic hyperglycinaemia (238300) | Glycine cleavage deficiency
| 1.7.6. D-glyceric aciduria (220120) | D-glycerate kinase deficiency
| 1.1.3. Ornithine transcarbamylase deficience (311250) | Ornithine carbamoyltransferase deficiency
| 1.1.2. N-Acetylglutamate synthetase deficiency (237310)
| 1.1.1. Carbamoylphosphate synthetase I deficiency (237300)
| 4.1.2. Pyruvate kinase deficiency (266200)
| 1.1.6. Argininaemia (207800) | Arginase I deficiency
| 1.1.5. Argininosuccinic aciduria (207900) | Argininosuccinate lyase deficiency
| 4.1.1. Pyruvate dehydrogenase complex deficiency
| 1.1.9. Hyperinsulinemic hypoglycemia and hyperammonemia caused by activating mutations in the GLUD1 gene (138130)
| 1.1.8. Citrullinemia Type 2 (603859) | Aspartate glutamate carrier deficiency ( SLC25A13) | Citrin deficiency
| 4.3.2.2.1.4. PEOA4 (POLG2) (610131)
| 4.3.2.2.1.5. PEOA5 (RRM2B) (613077)
| 4.3.2.2.1.2. PEOA2 (ANT1) (609283)
| 4.3.2.2.1.3. PEOA3 (PEO1) (609286)
| 4.3.2.2.1.1. PEOA1 (POLG) (157640)
| 1.5.9. Other genetic defect in methionine cycle or sulfur amino acid metabolism
| 1.5.8. Methionine synthase reductase deficiency-cblE (236270) | Homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type | Vitamin B12-responsive homocystinuria, cblE type | Methylcobalamin deficiency, cblE type
| 1.5.7. Methionine synthase deficiency-cblG (250940) | Methylcobalamin deficiency, cblG type | Homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cblG complementation type
| 1.5.6. Isolated sulfite oxidase deficiency (272300) | Sulphite oxidase deficiency | Sulphocysteinuria
| 1.5.5. Cystathionase deficiency (219500) | Cystathione gamma - lyase deficiency | Gamma - cystathionase deficiency | Cystathioninuria
| 4.3. Mitochondrial respiratory chain disorders
| 4.4. Mitochondrial membrane transport disorders
| 1.5.2. Glycine N-methyltransferase deficiency (606664) | GNMT deficiency
| 1.5.1. Methionine adenosyltransferase I/III deficiency (250850) | MAT deficiency | MAT I/III deficiency | Hypermethioninemia, Isolated persistent
| 4.7. Other disorders of energy metabolism
| 14.5.3. Primary hypomagnesaemia
| 14.4. Disorder of phosphate, calcium and vitamin D metabolism
| 3.3.6.2. Electron transfer flavoprotein deficiency, beta chain (130410)
| 3.3.6.3. ETF-ubiquinone oxidoreductase deficiency (231675) | ETF-QO deficiency | Electron transfer flavoprotein dehydrogenase deficiency
| 3.3.6.1. Electron transfer flavoprotein deficiency, alpha chain (231680)
| 14.2.1.4. Hereditary haemochromatosis Type 4 (235200)
| 14.2.1.3. Hereditary haemochromatosis Type 3 (235200)
| 14.2.1.2. Hereditary haemochromatosis Type 2 (235200)
| 14.2.1.1. Hereditary haemochromatosis Type 1 (235200)
| 9.1.9. Mannosyltransferase 1 deficiency (608540) | HMT1-CDG | CDG-Ik
| 9.1.8. UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (608093) | DPAGT1-CDG | CDG-Ij
| 9.1.3. Glucosyltransferase 1 deficiency (603147) | ALG6-CDG | CDG-Ic
| 4.3.1. Respiratory chain disorders caused by mutations of mtDNA
| 4.3.2. Respiratory chain disorders caused by mutations of nuclear DNA
| 4.3.3. Respiratory chain deficiencies with no known genetic basis
| 9.1.7. Mannosyltransferase 2 deficiency (607906) | ALG 2-CDG | CDG-Ii
| 9.1.6. Glucosyltransferase 2 deficiency (608104) | ALG 8-CDG | CDG-Ih
| 9.1.5. Mannosyltransferase 8 deficiency (607143) | ALG 12-CDG | CDG-Ig
| 9.1.4. Mannosyltransferase 6 deficiency (601110) | NOT56L-CDG | CDG-Id
| 4.3.2.9. Isolated Oxidative Phosphorylation Defects with Variable Phenotype (Not Classified Elsewhere)
| 4.3.2.8. Exercise Intolerance with Lactic Acidosis
| 13.2.2.2. Intrinsic factor receptor deficiency due to AMN mutations (605799)
| 4.3.2.1. Mitochondrial DNA Depletion Syndromes
| 4.3.2.3. Leigh Syndrome, LS (256000) | Subacute Necrotizing Encephalopathy
| 4.3.2.2. Multiple mtDNA Deletion Syndromes
| 4.3.2.5. Growth Retardation, Aminoaciduria, Cholestasis, Iron overload, Lactic acidosis and Early death (GRACILE) Syndrome (BCS1L) (603358)
| 4.3.2.4. Ubiquinone (CoQ10) deficiency (Non-LS) (607426)
| 4.3.2.7. Cardio-encephalopathy with hyperammonaemia (TMEM70) (604273) | ATP synthase deficiency, nuclear-encoded
| 4.3.2.6. Renal tubulopathy, encephalopathy and liver failure (BCS1L) (124000)
| 15.2.1. Trimethylaminuria (602079)
| 8.2.1.2. Familial apolipoprotein C - II deficiency (207750)
| 8.2.1.1. Familial lipoprotein lipase deficiency (238600)
| 8.3.1.1. Dysfunctional apo E
| 5.2.5. Uridine-5’-monophosphate hydrolase superactivity (266120)
| 14.1. Disorder of copper metabolism
| 5.2.6. Thymidine phosphorylase deficiency (131222)
| 1.2.6.1. Methylglutaconic aciduria type I (250950) | 3-Methylglutaconyl-CoA hydratase deficiency
| 1.2.6.3. Methylglutaconic aciduria type III (258501) | Costeff syndrome
| 1.2.6.2. Methylglutaconic aciduria type II (302060) | Barth syndrome | Taffazin deficiency
| 1.2.6.5. Methylglutaconic aciduria type V (610198)
| 1.2.6.4. Methylglutaconic aciduria type IV (250951)
| 14.5. Disorder of magnesium metabolism
| 2.8.16.4. Muscle phosphoglycerate kinase deficiency (300653)
| 5.2.1. Orotic aciduria type I (258900) | Uridine monophosphate synthase deficiency
| 5.2.2. Orotic aciduria type II (258920) | Orotidine - 5 -phosphate decarboxylase deficiency
| 5.2.3. Pyrimidine - 5 - nucleotidase deficiency (266120)
| 5.2.4. Dihydroorotate dehydrogenase deficiency (263750)
| 2.8.16.1. Muscle LDH deficiency (612933)
| 2.8.16.2. Aldolase A deficiency (611881)
| 2.8.16.3. Beta-enolase deficiency (612932)
| 5.2.8. Dihydropyrimidine dehydrogenase deficiency (274270)
| 5.2.9. Dihydropyrimidinase deficiency (222748)

« Til de 100 forrige Til de 1 næste » 1 ... 4 5 6 7 8

Handlinger tilknyttet webside

Send this