H01225  D-2-hydroxyglutaric aciduria
     H01096  Pyruvate kinase deficiency
     H00072  Pyruvate dehydrogenase complex deficiency
     H01997  Pyruvate dehydrogenase E1-alpha deficiency
     H01998  Pyruvate dehydrogenase E1-beta deficiency
     H01999  Pyruvate dehydrogenase E2 deficiency
     H02000  Dihydrolipoamide dehydrogenase deficiency
     H00073  Pyruvate carboxylase deficiency
     H02520  Phosphoenolpyruvate carboxykinase deficiency
     H01022  Diseases of the tricarboxylic acid cycle
     H02004  Fumarase deficiency
     H02006  Alpha-ketoglutarate dehydrogenase complex deficiency
     H02113  Infantile cerebellar-retinal degeneration
     H02562  Yoon-Bellen neurodevelopmental syndrome
     H02005  Mitochondrial complex II deficiency

     H00069  Glycogen storage disease
     H01939  Glycogen storage disease type I
     H01940  Glycogen storage disease type II
     H01941  Glycogen storage disease type III
     H01942  Glycogen storage disease type IV
     H01943  Glycogen storage disease type V
     H01944  Glycogen storage disease type VI
     H01945  Glycogen storage disease type VII
     H01946  Glycogen storage disease type XI
     H01947  Fanconi-Bickel syndrome
     H01949  Glycogen storage disease type 0b
     H01950  Glycogen storage disease type 0a
     H01951  Glycogen storage disease type X
     H01952  Glycogen storage disease type XII
     H01953  Glycogen storage disease type XIII
     H01955  Glycogen storage disease type XV

     H01589  Systemic primary carnitine deficiency
     H01981  Carnitine palmitoyltransferase I deficiency
     H01982  Carnitine palmitoyltransferase II deficiency
     H01983  Carnitine-acylcarnitine translocase deficiency
     H00392  VLCAD deficiency
     H00488  MCAD deficiency
     H00489  LCHAD deficiency
     H00525  Disorders of mitochondrial fatty-acid oxidation
     H01352  Mitochondrial trifunctional protein deficiency
     H01364  3-Hydroxyacyl-CoA dehydrogenase deficiency
     H01980  SCAD deficiency

     H02099  Alpha-methylacyl-CoA racemase deficiency
     H00407  Peroxisomal beta-oxidation enzyme deficiency
     H00874  Leukoencephalopathy with dystonia and motor neuropathy
     H02096  Peroxisomal acyl-CoA oxidase deficiency
     H02098  D-bifunctional protein deficiency

     H01143  Vitamin D-dependent rickets
     H00161  Smith-Lemli-Opitz syndrome
     H00206  Mevalonate kinase deficiency
     H00617  Desmosterolosis
     H01281  Lathosterolosis
     H01933  Porokeratosis
     H02132  Microcephaly syndrome
     H00447  HEM skeletal dysplasia
     H00496  Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD)
     H01194  X-linked chondrodysplasia punctata
     H02303  Alopecia-mental retardation syndrome
     H01917  CK syndrome
     H02248  MEND syndrome

     H00216  Congenital adrenal hyperplasia
     H01111  Cortisone reductase deficiency
     H00259  Apparent mineralocorticoid excess syndrome
     H00258  Aldosterone synthase deficiency
     H02314  Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete
     H01163  Corticosteroid-binding globulin (CBG) deficiency
     H00794  Aromatase excess syndrome
     H02020  Aromatase deficiency
     H00607  46,XY gonadal dysgenesis
     H00608  46,XY disorder of sex development due to testosterone secretion defect

     H00151  Cerebrotendinous xanthomatosis
     H00628  Congenital bile acid synthesis defect

     H00423  Sphingolipidosis
     H00124  GM2 gangliosidoses
     H00281  GM1 gangliosidosis
     H02016  Tay-Sachs disease
     H02017  Sandhoff disease
     H00125  Fabry disease
     H00127  Metachromatic leukodystrophy
     H00126  Gaucher disease
     H00137  Niemann-Pick disease type A/B
     H00138  Farber lipogranulomatosis
     H00135  Krabbe disease

     H00194  Lesch-Nyhan syndrome
     H00195  Adenine phosphoribosyltransferase deficiency

     H01079  3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency
     H01082  Phosphoserine aminotransferase deficiency
     H02116  Phosphoserine phosphatase deficiency
     H01003  Dimethylglycine dehydrogenase deficiency
     H00191  Nonketotic hyperglycinemia
     H02657  Sarcosinemia
     H00190  Hyperprolinemia
     H00189  Ornithinaemia
     H02919  Bachmann-Bupp syndrome
     H01894  Multiple mitochondrial dysfunctions syndrome
     H00849  Cerebral creatine deficiency syndrome
     H02117  Neu-Laxova syndrome
     H00597  Snyder-Robinson syndrome
     H02918  Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities

     H00182  Cystathioninuria
     H00183  Homocystinuria
     H00184  Hypermethioninemia

     H01262  Formiminotransferase deficiency
     H00171  Histidinemia
     H01233  Urocanase deficiency
     H00862  Tourette syndrome

     H00167  Phenylketonuria
     H00163  Alkaptonuria
     H00165  Tyrosinemia

     H01005  Dopamine beta-hydroxylase deficiency
     H01161  Aromatic L-amino acid decarboxylase deficiency
     H02597  Sepiapterin reductase deficiency
     H00548  Brunner syndrome
     H01895  Attention deficit hyperactivity disorder (ADHD)
     H01646  Major depressive disorder
     H00057  Parkinson disease
     H02557  Dopa-responsive dystonia
     H02676  Infantile-onset parkinsonism-dystonia
     H00168  Oculocutaneous albinism

     H00668  Anemia due to disorders of glutathione metabolism
     H02313  5-Oxoprolinase deficiency
     H02312  Glutathione synthetase deficiency
     H01375  Glucose 6-phosphate dehydrogenase deficiency
     H01825  Spondylometaphyseal dysplasia, Sedaghatian type

     H00118  Congenital disorders of glycosylation type I
     H00119  Congenital disorders of glycosylation type II

     H01959  Muscular dystrophy-dystroglycanopathy type C
     H00120  Muscular dystrophy-dystroglycanopathy type A
     H01960  Muscular dystrophy-dystroglycanopathy type B
     H02307  Muscular dystrophy-dystroglycanopathy

     H02491  Immunoskeletal dysplasia with neurodevelopmental abnormalities
     H00255  Hypogonadotropic hypogonadism
     H00768  Autosomal recessive intellectual developmental disorder
     H00762  Spondyloepiphyseal dysplasia with congenital joint dislocations
     H00122  Multiple exostoses
     H01494  SEMD with joint laxity type
     H00494  Desbuquois syndrome
     H01498  Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
     H01496  Spondyloocular syndrome
     H02551  Skeletal dysplasia with joint laxity and advanced bone age
     H01497  Temtamy preaxial brachydactyly syndrome
     H02239  Ehlers-Danlos syndrome, spondylodysplastic type
     H02246  Ehlers-Danlos syndrome musculocontractural type

     H00421  Mucopolysaccharidosis
     H00128  Mucopolysaccharidosis type I
     H00129  Mucopolysaccharidosis type II
     H00123  Mucopolysaccharidosis type IV
     H00131  Mucopolysaccharidosis type VI
     H00130  Mucopolysaccharidosis type III
     H00132  Mucopolysaccharidosis type VII
     H00133  Mucopolysaccharidosis type IX

     H01486  Multiple congenital anomalies-hypotonia-seizures syndrome
     H01487  CHIME syndrome
     H01127  PIGM-congenital disorder of glycosylation
     H01489  Inherited glycosylphosphatidylinositol deficiencies
     H01485  Autosomal recessive mental retardation-42
     H01488  Hyperphosphatasia with mental retardation syndrome

     H00119  Congenital disorders of glycosylation type II

     H02000  Dihydrolipoamide dehydrogenase deficiency
     H02438  Hyperglycinemia, lactic acidosis, and seizures
     H02518  Neonatal severe encephalopathy with lactic acidosis and brain abnormalities
     H02643  Lipoyltransferase 1 deficiency

     H01197  Dihydrofolate reductase deficiency
     H01262  Formiminotransferase deficiency
     H01003  Dimethylglycine dehydrogenase deficiency
     H02657  Sarcosinemia
     H00262  Neural tube defects, folate-sensitive

     H01277  Vitamin B12 deficiency anaemia
     H01190  Transcobalamin II deficiency
     H00183  Homocystinuria
     H00174  Methylmalonic aciduria
     H02221  Methylmalonic aciduria and homocystinuria
     H02222  Methylmalonic acidemia and hyperhomocysteinemia, cblX type
     H00063  Spinocerebellar ataxia (SCA)
     H00604  Deafness, autosomal dominant
     H00262  Neural tube defects, folate-sensitive

     H01145  Atransferrinemia
     H01196  Hypochromic microcytic anemia
     H02206  Aceruloplasminemia
     H00668  Anemia due to disorders of glutathione metabolism
     H02312  Glutathione synthetase deficiency
     H00833  Neurodegeneration with brain iron accumulation
     H00211  Hemochromatosis
     H01938  Hypermanganesemia with dystonia
     H00480  X-linked intellectual developmental disorder
     H01825  Spondylometaphyseal dysplasia, Sedaghatian type