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| 11.1. Disorders of peroxisome biogenesis | Zellweger spectrum disorder | Hyperpipecolic acidaemia
| 11.3. Disorders of peroxisomal alpha-, beta and omega-oxidation
| 11.2. Rhizomelic chondrodysplasia punctata
| 6.2.3. Oxysterol 7-alpha-hydroxylase
| 6.2.2. Δ4-3-oxysterol 5β-reductase deficiency
| 6.2.1. 3- β-hydroxysterol Δ5-oxidoreductase/isomerase deficiency | Progressive familial intrahepatic cholestasis type 4
| 6.2.5. Cerebrotendinous xanthomatosis (213700) | Sterol 27-hydroxylase deficiency | Van Bogaert-Scherer-Epstein disease | Cholestanol storage disease
| 6.2.4. Cholesterol 7-alpha-hydroxylase
| 2.8.11. Glycogen storage disease type XI (227810) | GSD XI | Fanconi-Bickel syndrome | GLUT2 deficiency syndrome
| 2.8.10. Glycogen storage disease type X | GSD X | Muscle phosphoglycerate mutase deficiency
| 2.8.13. Glycogen storage disease type XV | Glycogenin deficiency | GSD XIV
| 2.8.12. Glycogen storage disease type XIV | Muscle phosphoglucomutase 1 deficiency | GSD XIV
| 2.8.15. Glycogen storage disease type 0b (611556) | GSD 0b | Muscle glycogen synthase deficiency
| 2.8.14. Glycogen storage disease type 0a (240600) | GSD 0a | Liver glycogen synthase deficiency
| 2.8.17. Unspecified glycogen storage disease
| 2.8.16. Other glycogen storage disease
| 12.1.1. Tyrosine hydroxylase deficiency (191290)
| 9.1.11. Flippase of Man5GlcNAc2-PP-Dol deficiency (611633) | RFT1-CDG | CDG-In
| 9.1.10. Mannosyltransferase 7-9 deficiency (608776) | DIBD1-CDG | CDG-Il
| 10.4. Ceroid lipfuscinoses, neuronal (CLN)
| 9.1.15. SRD5A3-CDG
| 12.1.2. Aromatic L-amino acid decarboxylase deficiency (608643)
| 9.1.14. TUSC3-CDG (601385)
| 13.9.4. Pantothenate kinases deficiency (234200) | Neurodegeneration with brain iron accumulation 1 | Hallervorden-Spatz disease
| 5.1.17. Thiopurine S-methyltransferase deficiency (610460)
| 5.1.16. Xanthinuria type II (603592) | Combined deficiency of xanthine and aldehyde oxidase
| 5.1.15. Xanthinuria type I (278300) | Xanthine oxidase deficiency
| 5.1.14. Mitochondrial Ribonucelotide Reductase subunit 2 deficiency (604712)
| 5.1.13. Purine nucleoside phosphorylase deficiency (164050)
| 5.1.12. Adenosine deaminase superactivity
| 5.1.11. Inosine triphosphatase deficiency (147520)
| 5.1.10. Phosphoribosyl pyrophosphate synthetase 1 defects (311850)
| 1.7.4.2. T protein deficiency, AMT gene (238310)
| 1.7.4.3. H protein deficiency, GCSH gene (238330)
| 1.7.4.1. P protein deficiency, GLDC gene (238300)
| 9.1.2. Phosphomannose isomerase deficiency (602579) | MPI-CDG | CDG-Ib
| 13.2.14. Unspecified disorder of cobalamin absorption, transport and metabolism (-)
| 13.2.15. Secondary non-genetic disorders of cobalamin absorption, transport and metabolism (-)
| 13.2.10. Combined defect in adenosylcobalamin and methylcobalamin synthesis-cblD (277410) | Methylmalonic aciduria and homocystinuria, cblD type
| 9.1.1. Phosphomannomutase 2 deficiency (601785) | PMM2-CDG | CDG-Ia
| 13.2.12. Transcobalamin receptor (TCblR/CD320) defect (606475)
| 10.2.5.2. Kanzaki disease (104170) | Schindler disease type II
| 4.3.2.10.12.Myopathy, Lactic Acidosis and Sideroblastic Anaemia 2, MLASA2 (YARS2) (613561)
| 9.4.8.1. Component of COG complex 7 deficiency (606978) | CDG-IIe
| 13.8.1.3. Mo cofactor deficiency, complementation group C (603930) | GPHN (gephyrin) deficiency
| 9.4.8.3. Component of COG complex 8 deficiency (606979)
| 9.4.8.2. Component of COG complex 1 deficiency (606973) | CDG-IIg
| 11.3.5. Alpha-methylacyl-CoA racemase deficiency (604489) | AMACR deficiency
| 11.3.4. Sterol carrier protein deficiency | SCPx deficiency
| 11.3.6. Refsum disease (266500) | Phytanoyl-CoA hydroxylase deficiency
| 11.3.1. X-linked adrenoleukodystrophy (300100) | Schilder disease | ALD
| 7.1.3. Variegate porphyria (176200) | Protoporphyrinogen oxidase deficiency
| 11.3.3. Peroxisomal D-bifunctional protein deficiency (261515) | DBP deficiency
| 11.3.2. Peroxisomal acyl-CoA oxidase 1 deficiency (264470)
| 4.5.2. Ethylmalonic Encephalopathy (ETHE1) (602473)
| 4.5.3. Anaemia, sideroblastic, and spinocerebellar ataxia, ASAT (ABCB7) (301310)
| 4.5.1. Leigh syndrome with no known genetic or respiratory chain deficiency (256000)
| 8.4.3. Lecithin cholesterol acyltransferase deficiency
| 8.4.2. Tangier disease (205400) | Familial hypoalphalipoproteinaemia
| 8.4.1. Apolipoprotein A-I deficiency
| 11.1.2.1. Neonatal adrenoleukodystrophy (202370)
| 1.5.12. Secondary non-genetic disorders of methionine cycle and other sulfur amino acids
| 1.5.11. Unspecified disorder of methionine metabolism
| 1.5.10. Unspecified disorder of homocysteine metabolism
| 3.3. Disorders of mitochondrial fatty acid oxidation
| 3.2. Disorders of carnitine transport and the carnitine cycle
| 3.1. Disorders of lipolysis
| 3.5. Other disorders of fatty acid and ketone body metabolism
| 3.4. Disorders of ketone body metabolism
| 13.2.13. Other genetic defect in cobalamin transport and metabolism (-)
| 3.2.4. Carnitine palmitoyltransferase II (CPTII) deficiency (255110)
| 3.2.2. Carnitine palmitoyltransferase I (CPTI) deficiency (255120)
| 3.2.3. Carnitine acylcarnitine translocase deficiency (212138)
| 3.2.1. Carnitine transporter deficiency (212140) | Systemic primary carnitine deficiency | Carnitine uptake deficiency
| 7.1.10. Acute hepatic porphyria (612740) | Delta aminolevilinic acid dehydratase deficiency
| 10.3.2.3. GM2-gangliosidosis AB-variant (272750) | GM2 activator deficiency
| 9.5. Disorders of protein ubiquitinylation
| 9.4. Disorders of multiple glycosylation and other glycosylation pathways
| 9.6. Other disorders of protein modification
| 9.1. Disorders of protein N-glycosylation
| 9.3. Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
| 9.2. Disorders of protein O-glycosylation
| 11.1.3. Zellweger spectrum disorder, unclassified clinical severity (214100)
| 11.1.2. Zellweger spectrum disorder, attenuated form (214100)
| 11.1.1. Zellweger spectrum disorder, severe form (214100) | Zellweger syndrome
| 8.2.1. Familial chylomicronaemia (238600) | Hyperlipidaemia Type 1
| 8.2.2. Familial hypertriglyceridaemia (238600)
| 4.3.2.9.10. Complex V assembly gene defect (ATPAF2, TMEM70) (n/a)
| 11.1.2.2. Infantile Refsum disease (266510)
| 14.2. Disorder of iron metabolism
| 14.3. Disorder of zinc metabolism
| 10.3.2.1. GM2-gangliosidosis 0-variant, (268800) | Sandhoff disease | Total hexosaminidase deficiency
| 3.4.1. 3-Hydroxy-3-Methylglutaryl-CoA synthase deficieny (600234)
| 3.4.2. Succinyl-CoA:3-Oxoacid-CoA transferase (SCOT) deficiency (245050)
| 3.4.3. Cytosolic acetoacetyl-CoA thiolase deficiency (100678)
| 1.9. Disorders of amino acid transport
| 1.8. Disorders of ornithine or proline metabolism
| 1.5. Disorders of the metabolism of sulphur amino acids
| 1.4. Disorders of phenylalanine or tyrosine metabolism
| 1.7. Disorders of serine, glycine or glycerate metabolism

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