-
| 4.3.2.10.6. Combined Oxidative Phosphorylation Defect 6, COXPD6 (AIFM1) (300816)
-
| 4.3.2.10.7. Combined Oxidative Phosphorylation Defect 7, COXPD7 (C10ORF65) (613559)
-
| 4.3.2.10.4. Combined Oxidative Phosphorylation Defect 4, COXPD4 (TUFM) (610678)
-
| 4.3.2.10.5. Combined Oxidative Phosphorylation Defect 5, COXPD5 (MRPS22) (611719)
-
| 4.3.2.10.8. Myopathy, Lactic Acidosis and Sideroblastic Anaemia 1, MLASA1 (PUS1) (600462)
-
| 4.3.2.10.9. Acute Infantile Liver Failure (TRMU) (613070)
-
| 1.7.1. Phosphoglycerate dehydrogenase deficiency (606879)
-
| 13.1.5. Unspecified disorders of folate transport and metabolism (-)
-
| 14.5.4.1. Neonatal hypomagnesaemia (307600)
-
| 14.5.4.3. Drug induced hypomagnesaemia
-
| 14.5.4.2. Hypomagnesaemic tetany in newborn
-
| 1.7.2. Phosphoserine phosphatase deficiency (172480)
-
| 7.1.9. Porphyria cutanea tarda type II (familial) (176100) | Uroporphyrinogen decarboxylase deficiency
-
| 2.2.2. Hereditary fructose intolerance (229600) | Fructose-1-phosphate aldolase deficiency
-
| 2.2.1. Essential fructosuria (229800) | Fructokinase deficiency
-
| 1.12.1. Prolidase deficiency (170100) | Iminodipeptiuria
-
| 1.12.2. Carnosinaemia (212200)
-
| 1.12.3. Homocarnosinosis (236130)
-
| 8.6.1.3. Pancreatic colipase deficiency (120105)
-
| 8.6.1.2. Pancreatic triacylglycerol lipase deficiency (246600)
-
| 8.6.1.1. Sjøgren - Larsson syndrome (270200) | Fatty alcohol:NAD+ oxidoreductase deficiency
-
| 1.3.2.1. BCKD E1 alpha subunit of deficiency | Maple syrup urine disease type Ia
-
| 10.1.10. MPS VII, Sly disease (253220) | Beta-glucuronidase deficiency
-
| 10.1.11. MPS IX (601492) | Hyaluronidase deficiency
-
| 10.4.7. CLN6 (601780)
-
| 10.4.6. CLN5 Finnish variant (256731) | Lysosomal transmembrane CLN5 protein deficiency
-
| 10.4.5. CLN4B Kufs disease dominant type (162350)
-
| 10.4.4. CLN4A, Kufs disease recessive type (204300)
-
| 10.4.3. CLN3, Batten Spielmeyer-Vogt disease (204200) | Lysosomal transmembrane CLN3 protein deficiency
-
| 10.4.2. CLN2, Jansky-Bielschowsky disease (204500) | Lysosomal tripeptidyl-peptidase-1 deficiency
-
| 10.4.1. CLN1, Santavuori-Haltia disease (256730) | Lysosomal palmitoyl protein thioesterase-1 deficiency
-
| 2.6.3. Glucose/galactose malabsorption (606824) | Glucose/galactose cotransporter (SGLT1) deficiency
-
| 2.6.2. Glucose transporter 2 deficiency (227810) | Glycogen storage disease type XI | GLUT2 deficiency syndrome | Fanconi-Bickel syndrome
-
| 2.6.1. Glucose transporter 1 deficiency (blood-brain barrier) (606777) | GLUT1 deficiency syndrome
-
| 9.4.7.1. Dolichol kinase deficiency (610768) | DK1-CDG | CDG-Im
-
| 10.4.9. CLN8, Northern epilepsy type (600143)
-
| 10.4.8. CLN7 (610950) | CLN Turkish variant
-
| 2.4.1. Glycerol kinase deficiency (307030)
-
| 2.4.2. Complex glycerol kinase deficiency due to contiguous gene deletion (300679)
-
| 6.4. Other disorders in the metabolism of sterols
-
| 1.10.1. Glutamine synthetase deficiency
-
| 10.6.1. Mucolipidosis II, I-cell disease (252500) | N-acetylglucosamine-1-phosphotransferase (alpha/beta) deficiency
-
| 10.6.3. Mucolipidosis IV (252650) | Mucolipin-1 deficiency
-
| 10.6.2. Mucolipidosis III, Pseudo-Hurler polydystrophy (252605) | N-acetylglucosamine-1-phosphotransferase (gamma) deficiency
-
| 10.6.5. Wolman/cholesterol ester storage disease (278000) | Acid lipase deficiency
-
| 10.6.4. Multiple sulphatase deficiency (272200) | Sulphatase-modifying factor 1 (SUMF-1) deficiency
-
| 10.6.7. Sialuria (269921) | UDP-N-acetylglucosamine 2-epimerase deficiency
-
| 10.6.6. Pompe disease, GSD type II (232300) | Acid alpha-1,4-glucosidase deficiency
-
| 10.6.9. Cathepsin-related disorders (265800)
-
| 1.1.7. HHH syndrome (238970) | Hyperammonaemia-hyperornithinaemia-homocitrullinuria syndrome | Mitochondrial ornithine transporter (ORNT1) deficiency
-
| 6.3. Disorders of bile acid metabolism and transport
-
| 1.1.4. Citrullinaemia type1 (215700) | Argininosuccinate synthetase deficiency
-
| 11.1.3.6. PEX10 deficiency (602859)
-
| 1.2.16.2. Mitochondrial isocitrate dehydrogenase deficiency (147650)
-
| 1.2.16.1. D-2-hydroxyglutarate dehydrogenase deficiency (609186)
-
| 4.3.2.2.1. Progressive External Ophthalmoplegia Autosomal Dominant (PEOA)
-
| 4.3.2.2.2. Progressive External Ophthalmoplegia Autosomal Recessive (PEOB) (258450)
-
| 4.3.2.2.3. Sensory Ataxic Neuropathy, Dysarthria and Ophthalmoparesis, SANDO (607459) | Mitochondrial Recessive Ataxic Syndrome, MIRAS (POLG) | Spinocerebellar Ataxia with Epilepsy, SCAE
-
| 4.3.2.2.4. Optic Atrophy 1 and Deafness (OPA1) (125250) | Optic Atrophy, Deafness, Ophthalmoplegia, Myopathy
-
| 13.1.1. Hereditary folate malabsorption (229050) | SLC 46A1 deficiency | Proton-coupled folate transporter (PCFT) deficiency
-
| 13.1.3. Methylenetetrahydrofolate reductase deficiency (236250) | MTHFR deficiency | Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity
-
| 13.1.2. Cerebral folate deficiency due to FOLR1 deficiency (613068) | Neurodegeneration due to cerebral folate transport deficiency
-
| 9.1.13. Glucosidase 1 deficiency (606056) | GLS1-CDG | CDG-IIb
-
| 13.1.4. Other genetic disorders in folate transport and metabolism (-)
-
| 13.1.7. Cerebral folate deficiency due to autoantibodies-non-genetic (-)
-
| 13.1.6. Secondary disorders of folate transport and metabolism (-)
-
| 13.3.5. Pterin 4 carbinolamine dehydratase deficiency (125310) | Primapterinuria
-
| 13.3.4. Quinoid dihydropteridine reductase deficiency (261630)
-
| 13.3.3. Sepiapterin reductase deficiency (612716)
-
| 13.3.2. 6-Pyruvoyl-tetrahydropterin synthase deficiency (261640)
-
| 13.3.1. Guanosine 5 triphosphate cyclohydrolase I deficiency (233910)
-
| 1.3.2.4. Unspecified BCKD deficiency (248610)
-
| 4.3.2.9.6. Complex III assembly gene defect (n/a)
-
| 4.3.2.9.5. Complex III structural subunit gene defect (UQCRB, UQCRQ) (n/a)
-
| 4.3.2.9.4. Complex II assembly gene defect (SDHAF1) (n/a)
-
| 4.3.2.9.3. Complex II structural subunit gene defect (SDHA, SDHB, SDHC, SDHD) (n/a)
-
| 4.3.2.9.2. Complex I assembly gene defect (C20orf7, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, C80orf38, NUBPL, FOXRED1) (n/a)
-
| 4.3.2.9.1. Complex I structural subunit gene defect (NDUFV1, NDUFV2, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFA1, NDUFA2, NDUFA11) (n/a)
-
| 1.3.2.3. Dihydrolipoamide branched chain transacylase deficiency (248610) | Maple syrup urine disease type II | E2 deficiency
-
| 9.1.12. N-acetylglucosaminyltransferase deficiency (602616) | MGAT2-CDG | CDG-IIa
-
| 4.3.2.9.9. Complex V structural subunit gene defect (ATP5E) (n/a)
-
| 4.3.2.9.8. Complex IV assembly gene defect (SCO1, SCO2, SURF1, (n/a)
-
| 10.2.5. Schindler disease (104170) | Alpha-N-acetylgalactosaminidase deficiency
-
| 10.2.4. Beta - D – mannosidosis (248510) | Beta-mannosidase deficiency
-
| 10.2.6. Sialidosis (256550) | Alpha-neuraminidase
-
| 10.2.1. Aspartylglucosaminuria (208400) | Aspartylglucosaminidase deficiency
-
| 10.2.3. Alpha - D – mannosidosis (248500) | Alpha-mannosidase deficiency
-
| 10.2.2. Fucosidosis (230000) | Alpha-fucosidase deficiency
-
| 13.9.1. TTP1 deficiency (277460) | Familial isolated Vitamin E deficiency
-
| 13.2.1. Intrinsic factor deficiency (609342) | IFD | Transcobalamin III deficiency | TCN III, TCN3 deficiency
-
| 13.9.3. Retinol binding protein deficiency (180250)
-
| 13.9.2. Vitamin K epoxide reductase deficiency (607473)
-
| 143450" | LCHAD deficiency
-
| 10.3.10. Niemann-Pick disease type C (257220)
-
| 2.9.1. Lactose intolerance (223000) | lactase deficiency
-
| 2.9.2. Disaccharide intolerance 1 (222900) | Sucrase-isomaltase deficiency
-
| 2.9.3. Trehalase deficiency (612119)
-
| 9.2.1.2. EXT2 deficiency (608210)
-
| 9.2.1.3. Beta-1,4-galactosyltransferase 7 deficiency (604327) | B4GALT7 deficiency
-
| 9.2.1.1. EXT1 deficiency (608177)
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