-
| 4.3.3.2. Complex II deficiency (252011)
-
| 4.3.3.3. Complex III deficiency (124000)
-
| 1.2.17.2. Aminoacylase 2 deficiency (271900) | Aspartoacylase deficiency | Canavan disease | van Bogaert-Bertrand disease
-
| 4.3.3.5. ATP synthase deficiency (604273)
-
| 4.3.3.6. Combined respiratory chain deficiency (n/a)
-
| 1.2.17.1. Aminoacylase 1 deficiency (609924)
-
| 5.1.7. Myoadenylate deaminase deficiency (102770)
-
| 4.3.2.10.11.Pontocerebellar hypoplasia Type 6 (RARS2) (611523)
-
| 5.1.5. Adenosine deaminase deficiency (102700)
-
| 5.1.4. AICAR transformylase deficiency (601731) | IMP cyclohydrolase deficiency
-
| 5.1.3. Adenylosuccinate lyase deficiency (103050)
-
| 5.1.2. Familial juvenile hyperuricaemic nephropathy (162000) | Familial nephropathy with gout
-
| 5.1.1. Primary idiopathic gout (138900)
-
| 4.3.1.1. Large-scale single deletion of mtDNA
-
| 4.3.1.2.9.1. ‘Pure’ Mitochondrial Myopathy (n/a)
-
| 4.3.1.2.9.3. Mitochondrial Myopathy with Diabetes Mellitus (500002)
-
| 4.3.1.2.9.2. Lethal Infantile Mitochondrial Myopathy (551000)
-
| 4.3.1.2.9.4. Mitochondrial Myopathy with Reversible cytochrome c oxidase (COX) Deficiency (500009)
-
| 5.1.9. Adenine phosphoribosyl transferase deficiency (102600)
-
| 5.1.8. Lesch-Nyhan syndrome (308000) | Hypoxanthine-guanine phosphoribosyltransferase deficiency
-
| 13.2.6. Defect in adenosylcobalamin synthesis-cbl B (251110) | Methylmalonic aciduria, cblB type | Methylmalonic acidemia, cblB type | Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type
-
| 13.2.7. Defect in adenosylcobalamin synthesis-cblD-MMA (277410)
-
| 13.2.4. Transcobalamin II deficiency
-
| 13.2.5. Defect in adenosylcobalamin synthesis-cbl A (251100) | Methylmalonic aciduria, cblA type | Methylmalonic acidemia, cblA type | Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type
-
| 10.3.10.1. Niemann-Pick disease type C1 (257220)
-
| 13.2.3. Haptocorrin deficiency
-
| 10.3.10.2. Niemann-Pick disease type C2 (607625)
-
| 4.3.2.3.1. LS with leukodystrophy (SDHA, SURF1) (220110)
-
| 4.3.2.3.3. LS with French-Canadian ethnicity (LRPPRC) (220111)
-
| 4.3.2.3.2. LS with cardiomyopathy (COX10, COX15) (220110)
-
| 4.3.2.3.5. LS with nephropathy (COQ2) (607426)
-
| 4.3.2.3.4. LS with nephrotic syndrome (PDSS2) (607426)
-
| 13.2.8. Defect in methylcobalamin synthesis-cblD-HC (277410)
-
| 13.2.9. Combined defect in adenosylcobalamin and methylcobalamin synthesis-cblC (277400) | Methylmalonic aciduria and homocystinuria, cblC type | Methylmalonic acidemia and homocystinuria, cblC type | Methylmalonic aciduria and homocystinuria, vitamin B12-responsive
-
| 5.2.7. Thymidine kinase 2 deficiency (609560)
-
| 1.2.16. D-2-hydroxyglutaric aciduria (600721)
-
| 1.2.17. Aminoacylase deficiency
-
| 1.2.14. Methylmalonate semialdehyde dehydrogenase deficiency (603178)
-
| 1.2.15. L-2-hydroxyglutaric aciduria (236792) | L-2-hydroxyglutarate dehydrogenase defect
-
| 1.2.12. Methacrylic aciduria (250620) | 3-Hydroxyisobutyryl-CoA deacylase deficiency
-
| 1.2.13. 3-Hydroxyisobutyric aciduria (236795) | 3-Hydroxyisobutyrate dehydrogenase
-
| 1.2.10. Alpha-methylacetoacetic aciduria (203750) | Beta-ketothiolase deficiency | Mitochondrial acetoacetyl-CoA thiolase deficiency | 3-Oxothiolase deficiency
-
| 1.2.11. Isobutyric aciduria (611283) | Isobutyryl-CoA dehydrogenase deficiency
-
| 1.11. Disorders of the gamma-glutamyl cycle
-
| 1.10. Other disorders of amino acid metabolism
-
| 1.13. Other disorders of amino acid and protein metabolism
-
| 1.12. Other disorders of peptide metabolism
-
| 1.2.18. Methylmalonate semialdehyde dehydrogenase deficiency (603178)
-
| 1.2.19. Other organic acidurias
-
| 4.3.2.10. Mitochondrial Protein Translation Defects
-
| 10.3.2.2. GM2-gangliosidosis B-variant (272800) | Tay-Sachs disease | Hexosaminidase A deficiency
-
| 4.3.2.8.2. Complex I and II deficiency (ISCU) (255125)
-
| 4.3.2.8.1. Complex I deficiency; riboflavin responsive (ACAD9) (611126)
-
| 2.8.1. Glycogen storage disease type 1a (232200) | GSD Ia | von Gierke disease | Glucose-6-phosphatase deficiency
-
| 9.2.4.7. O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (")
-
| 2.8.3. Glycogen storage disease type II (232300) | GSD II | Pompe disease | Lysosomal alpha-1,4-glucosidase deficiency
-
| 2.8.2. Glycogen storage disease type 1b (232220) | GSD Ib | Glucose-6-phosphate transport deficiency
-
| 2.8.5. Glycogen storage disease type IV (232500) | GSD IV | Andersen disease | Glycogen branching enzyme deficiency
-
| 2.8.4. Glycogen storage disease type III (232400) | GSD III | Cori disease | Amylo-1,6-glucosidase (debrancher) deficiency
-
| 2.8.7. Glycogen storage disease type VI (232700) | GSD VI | Hers disease | Hepatic glycogen phosphorylase deficiency
-
| 2.8.6. Glycogen storage disease type V (232600) | GSD V | McArdle disease | Muscle phosphorylase deficiency
-
| 2.8.9. Glycogen storage disease type IX (306000) | GSD IX | Phosphorylase kinase deficiency
-
| 2.8.8. Glycogen storage disease type VII (232800) | GSD VII | Tauri disease | Muscle phosphofructokinase deficiency
-
| 9.2.4.5. Fukutin-related protein deficiency (606596) | FKRP deficiency
-
| 8.4. Disorders of high density lipoprotein metabolism
-
| 9.2.4.4. Fukutin deficiency (607440) | FKTN deficiency
-
| 8.5. Inherited hypolipidaemias
-
| 5.3.1. Aicardi-Goutières Syndrome (AGS)
-
| 5.3.2. RNASET2-deficient cystic leukoencephalopathy (612951)
-
| 8.6. Other disorders of lipid and lipoprotein metabolism
-
| 7.1.2. X-linked dominant protoporphyria (300752) | Erythroid d 5-aminolevulinate synthase (gain of function)
-
| 9.2.4.2. Protein-O-mannosyltransferase 2 deficiency (607423) | POMT1 deficiency
-
| 13.6.2. Pyridoxamine 5´-oxidase deficiency (610090) | Pyridoxal-phosphate dependent seizures
-
| 8.1.1.1. Familial hypercholesterolaemia - homozygous
-
| 8.1.1.2. Familial hypercholesterolaemia - heterozygous
-
| 12.1.3. Dopamine beta-hydroxylase deficiency (223360)
-
| 275350" | TCN2 deficiency | TC II deficiency | Vitamin B12-binding protein 2 deficiency
-
| 8.1. Inherited hypercholesterolaemias
-
| 5.2.12. Beta-aminoisobutyrate-pyruvate transaminase deficiency (210100)
-
| 9.2.4.6. N-acetylglucosaminyltransferase-like protein deficiency (603590) | LARGE deficiency
-
| 5.2.10. Beta-ureidopropionase deficiency (613161) | Beta-alanine synthase deficiency
-
| 5.2.11. Hyper-beta-alaninaemia (237400) | Beta-alanine-2-ketoglutarate transaminase deficiency
-
| 9.2.4.3. Protein-O-mannose beta-1,2-N-acetyglucosaminyltransferase deficiency
-
| 8.2. Inherited hypertriglyceridaemias
-
| 9.2.4.1. Protein-O-mannosyltransferase 1 deficiency (607423) | POMT1 deficiency
-
| 12.3. Other disorders of neurotransmitter metabolism
-
| 5.3.1.5. AGS5 (612952) | SAMHD1deficiency
-
| 5.3.1.4. AGS4 (610181) | RNASEH2A deficiency
-
| 5.3.1.3. AGS3 (610181) | RNASEH2C deficiency
-
| 5.3.1.2. AGS2 (610181) | RNASEH2B deficiency
-
| 5.3.1.1. AGS1 (225750) | TREX1 deficiency | DNase III deficiency
-
| 9.2.4.8. O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (610308) | B3GALTL deficiency
-
| 12.1. Disorders in the metabolism of biogenic amines
-
| 9.2.2.1. Polypeptide N-acetylgalactosaminyl transferase deficiency (601756) | GALTNT3 deficiency
-
| 4.3.2.4.2. Deafness, encephaloneuropathy, obesity and valvulopathy (PDSS1) (607426)
-
| 4.3.2.4.3. Cerebellar atrophy, ataxia and seizures (CABC1) (607426)
-
| 4.3.2.4.1. Early-onset ataxia with oculomotor apraxia and hypoalbuminaemia (APTX) (607426)
-
| 4.3.2.10.2. Combined Oxidative Phosphorylation Defect 2, COXPD2 (MRPS16) (610498)
-
| 4.3.2.10.3. Combined Oxidative Phosphorylation Defect 3, COXPD3 (TSFM) (610505)
-
| 4.3.2.10.1. Combined Oxidative Phosphorylation Defect 1, COXPD1 (EFG1) (609060)
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