-
| 1.6. Disorders of histidine, tryptophan or lysine metabolism
-
| 1.1. Urea cycle disorders and inherited hyperammonaemias
-
| 1.3. Disorders of the metabolism of branched-chain amino acids not classified as organic acidurias
-
| 1.2. Organic acidurias
-
| 14. Disorders in the metabolism of trace elements and metals"
-
| 5.1. Disorders of purine metabolism
-
| 5.3. Disorders of nucleotide metabolism
-
| 5.2. Disorders of pyrimidine metabolism
-
| 8.4.3.2. Norum disease (245900)
-
| 8.4.3.1. Fish-eye disease (136120)
-
| 8.3. Inherited mixed hyperlipidaemias
-
| 9.2.4. O-mannosylglycan synthesis deficiencies
-
| 9.2.1. O-xylosylglycan synthesis deficiencies
-
| 9.2.2. O-N-acetylgalactosaminylglycan synthesis deficiencies
-
| 9.2.3. O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies
-
| 1.1.11. Unspecified hyperammonaemia (238970)
-
| 1.1.10. Other disorders of the urea cycle (238970)
-
| 11.1.3.5. PEX6 deficiency (601498)
-
| 4.2.1. 2-Oxoglutarate dehydrogenase deficiency (203740) | 2-Ketoglutarate dehydrogenase complex deficiency
-
| 6.3.3. Progressive familial intrahepatic cholestasis type 2 | ABCB11 deficiency
-
| 4.2.2. Fumarase deficiency (136850) | Fumaric aciduria
-
| 6.3.4. Progressive familial intrahepatic cholestasis type 3 | ABCB4 deficiency | Class III multidrug resistance P-glycoprotein deficiency
-
| 606822" | POMGNT1 deficiency
-
| 10.5. Lysosomal export disorders
-
| 10.3.6.3. Saposin C deficiency (610539) | Gaucher disease due to Saposin C deficiency
-
| 10.3.6.2. Saposin B deficiency (249900) | Metachromatic leukodystrophy due to Saposin B deficiency
-
| 10.1. Mucopolysaccharidoses
-
| 10.2. Oligosaccharidoses
-
| 10.3. Sphingolipidoses
-
| 6.1.4. Congenital hemidysplasia with ichtyosiform erythroderma and limb defects (")
-
| 4.4.2. Mitochondrial protein import disorders
-
| 4.4.1. Mitochondrial substrate carrier disorders
-
| 6.1.7. Greenberg skeletal dysplasia (215140) | Hydrops-ectopic calcification-moth-eaten skeletal dysplasia | 3β-hydroxysterol Δ14-reductase deficiency
-
| 11.1.3.3. PEX3 deficiency (603164)
-
| 6.1.1. Mevalonate kinase deficiency (610377) | Mevalonic aciduria | Hyper-IgD syndrome (HIDS)
-
| 6.1.2. Smith - Lemli - Opitz syndrome (270400) | 7-Dehydrocholesterol reductase deficiency
-
| 6.1.3. X-linked dominant chondrodysplasia punctata 2 (302960) | Conradi-Hünermann syndrome | 3β-hydroxysteroid- Δ8, Δ7-isomerase deficiency
-
| 11.1.3.9. PEX14 deficiency (601791)
-
| 11.1.3.8. PEX13 deficiency (601789)
-
| 4.3.3.4. Complex IV deficiency (220110)
-
| 308050" | CHILD syndrome | 3β-hydroxysteroid C-4 dehydrogenase deficiency
-
| 10.2.5.1. Schindler disease type I (104170)
-
| 11.1.3.2. PEX2 deficiency (170993)
-
| 4.1.1.4. Dihydrolipoyl dehydrogenase deficiency (248600) | PDHC E3 deficiency
-
| 4.1.1.5. Pyruvate dehydrogenase E3 binding protein deficiency (245349) | Protein X deficiency
-
| 4.1.1.6. Pyruvate dehydrogenase phosphatase deficiency (608782)
-
| 4.1.1.7. Pyruvate dehydrogenase deficiency, unspecified (312170)
-
| 4.1.1.1. Pyruvate dehydrogenase E1α subunit deficiency (312170)
-
| 4.1.1.2. Pyruvate dehydrogenase E1β subunit deficiency (179060)
-
| 4.1.1.3. Dihydrolipoyl transacetylase deficiency (245348) | PDHC E2 deficiency
-
| 10.4.11. CLN10 (610127) | Cathepsin D deficiency
-
| 10.4.10. CLN9 (609055)
-
| 8.4.4. Familial hyperalphalipoproteinaemia | Cholesterol ester transfer protein deficiency
-
| 602576" | SCDO3 deficiency
-
| 9.4.8. Conserved oligomeric Golgi (COG) complex deficiency
-
| 9.4.9. V-ATPase deficiencies
-
| 9.4.6. GDP-fucose transporter deficiency (605881) | SLC35C1-CDG | CDG-IIc
-
| 9.4.7. Dolichol pathway deficiencies
-
| 9.4.4. UDP-GlcNAc epimerase/kinase deficiency (600737) | GNE-CDG
-
| 9.4.5. CMP-sialic acid transporter deficiency (605634) | SLC35A1-CDG | CDG-IIf
-
| 9.4.2. Lec35 deficiency (608799) | MPDU1-CDG | CDG-If
-
| 9.4.3. Beta-1,4-galactosyltransferase 1 deficiency (607091) | B4GALT1-CDG | CDG-IId
-
| 9.4.1. GDP-Man:Dol-P mannosyltransferase deficiency (603503) | DPM1-CDG | CDG-Ie
-
| 5.1.6. Deoxyguanosine kinase deficiency (251880)
-
| 1.2.3.1. Methylmalonyl-CoA mutase deficiency
-
| 1.2.3.2. Methylmalonyl-CoA epimerase deficiency (251120)
-
| 1.2.3.3. Methylmalonic aciduria, unspecified
-
| 1.2.1.2. Glutaric aciduria type III (231690)
-
| 1.2.1.1. Glutaric aciduria type I (231670) | Glutaryl-CoA dehydrogenase deficiency
-
| 4.3.1.2. Point mutations of mtDNA
-
| 4.6.1. Creatine transporter deficiency | X-linked creatine deficiency syndrome | SLC6A8 deficiency
-
| 4.6.3. Arginine:glycine amidinotransferase deficiency (612718)
-
| 4.6.2. Guanidinoacetate methyltransferase deficiency (612736)
-
| 13.2.2.1. Intrinsic factor receptor deficiency due to CUBN mutations (602997) | Cubulin deficiency
-
| 11.2.1. Rhizomelic chondrodysplasia punctata type 1 (215100) | PTS2 receptor deficiency | PEX7 deficiency
-
| 11.2.2. Rhizomelic chondrodysplasia punctata type 2 (222765) | Isolated dihydroxyacetone phosphate acyltransferase deficiency
-
| 11.2.3. Rhizomelic chondrodysplasia punctata type 3 (600121) | Isolated alkyl-dihydroxyacetone phosphate synthase deficiency
-
| 1.3.1. Branched-chain amino acid transferase (238340)
-
| 1.3.3. Other disorders of branched-chain amino acid metabolism
-
| 1.3.2. Maple syrup urine disease (248600) | Branched-chain alpha-keto acid dehydrogenase complex deficiency | BCKD deficiency
-
| 2.2. Disorders of fructose metabolism
-
| 2.3. Disorders of pentose metabolism
-
| 4.3.1.2.9. Maternally inherited Mitochondrial Myopathy (n/a)
-
| 2.1. Disorders of galactose metabolism
-
| 2.6. Disorders of glucose transport
-
| 2.7. Disorders of gluconeogenesis
-
| 2.4. Disorders of glycerol metabolism
-
| 2.5. Disorders of glyoxylate metabolism
-
| 4.3.1.2.3. Neuropathy Ataxia and Retinitis Pigmentosa, NARP (551500)
-
| 4.3.1.2.2. Myoclonic epilepsy associated with ragged red fibres, MERRF (545000)
-
| 4.3.1.2.1. Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes, MELAS (540000)
-
| 2.9. Other carbohydrate disorders
-
| 4.3.1.2.7. Maternally inherited Mitochondrial Dystonia (500001)
-
| 4.3.1.2.6. Sporadic Leigh Syndrome (256000)
-
| 4.3.1.2.5. Maternally Inherited Leigh Syndrome, MILS (256000)
-
| 4.3.1.2.4. Leber Hereditary Optic Neuropathy, LHON (535000)
-
| 14.5.2. Hypomagnesaemia
-
| 10.5.2. Salla disease/infantile sialic acid storage disease (269920) | Solute carrier family 17 member 5 (SLC17A5) deficiency
-
| 4.3.1.1.2. Kearns Sayre Syndrome (530000) | Chronic External Ophthalmoplegia (CPEO), pigmentary degeneration of retina, myopathy and cardiomyopathy [onset before 20 yrs]
-
| 14.5.1. Hypermagnesaemia
Document Actions