H00668  Anemia due to disorders of glutathione metabolism
           H00231  Hereditary elliptocytosis
           H01125  Hereditary pyropoikilocytosis
           H02001  Familial pseudohyperkalemia
           H00230  Hereditary spherocytosis
           H00232  Hereditary stomatocytosis
           H00664  Anemia due to disorders of glycolytic enzymes
           H00674  Anemia due to disorders of nucleotide metabolism
           H00832  Core neuroacanthocytosis syndromes
           H01214  Rh-null hemolytic anemia (RHN)
           H01432  Choreoacanthocytosis
           H01434  Atypical hemolytic uremic syndrome
           H01720  Southeast Asian ovalocytosis
           H01978  Dehydrated hereditary stomatocytosis
           H01979  Overhydrated hereditary stomatocytosis
           H02002  Cryohydrocytosis
           H02658  X-linked congenital hemolytic anemia

         H01186  Abnormal thyroid hormone metabolism
         H00251  Thyroid dyshormonogenesis
         H00249  Thyroid hormone resistance syndrome
         H00250  Congenital nongoitrous hypothyroidism (CHNG)
         H00650  Allan-Herndon-Dudley syndrome
         H01040  Bamforth-Lazarus syndrome

         H00167  Phenylketonuria
         H02419  Glycine encephalopathy with normal serum glycine
         H00163  Alkaptonuria
         H00165  Tyrosinemia
         H02936  Hawkinsinuria
         H00171  Histidinemia
         H01233  Urocanase deficiency
         H01583  Hydroxykynureninuria
         H02545  Hypertryptophanemia
         H00188  Hyperlysinemia
         H01242  Saccharopinuria
         H02644  Alpha-aminoadipic and alpha-ketoadipic aciduria
         H02313  5-Oxoprolinase 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
         H02380  D-glyceric aciduria
         H00190  Hyperprolinemia
         H00187  Ornithine transcarbamylase deficiency
         H00189  Ornithinaemia
         H02919  Bachmann-Bupp syndrome
         H01398  Primary hyperammonemia (Urea cycle disorders)
         H01400  Secondary hyperammonemia
         H01028  Argininosuccinic aciduria
         H00164  Carbamoyl phosphate synthetase I deficiency
         H00186  Hyperargininemia
         H00185  Citrullinemia
         H01032  N-acetylglutamate synthase deficiency
         H01268  Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
         H00182  Cystathioninuria
         H00183  Homocystinuria
         H00184  Hypermethioninemia
         H01237  Sulfite oxidase deficiency
         H01285  Methylcobalamin deficiency type G
         H02311  Molybdenum cofactor deficiency
         H02485  Extraoral halitosis due to MTO deficiency
         H00172  Maple syrup urine disease
         H01076  Beta-ketothiolase deficiency
         H01279  Isobutyryl-CoA dehydrogenase deficiency
         H02136  Branched-chain ketoacid dehydrogenase kinase deficiency
         H02285  Methylmalonate semialdehyde dehydrogenase deficiency
         H02546  Hypervalinemia and hyperleucine-isoleucinemia
         H01349  Methacrylic aciduria
         H00173  Isovaleric acidemia
         H00174  Methylmalonic aciduria
         H00175  Propionic acidemia
         H00180  Holocarboxylase synthetase deficiency
         H00181  3-Methylcrotonylglycinuria
         H00375  SBCAD deficiency
         H00654  Barth syndrome
         H00754  3-Methylglutaconic aciduria
         H01182  Biotinidase deficiency
         H02221  Methylmalonic aciduria and homocystinuria
         H02222  Methylmalonic acidemia and hyperhomocysteinemia, cblX type
         H00074  Canavan disease
         H00178  Glutaric acidemia
         H00835  Succinic semialdehyde dehydrogenase deficiency
         H01146  Aminoacylase 1 deficiency
         H01225  D-2-hydroxyglutaric aciduria
         H01280  L-2-hydroxyglutaric aciduria
         H01283  Malonyl-CoA decarboxylase deficiency
         H02304  Combined D-2- and L-2-hydroxyglutaric aciduria
         H02109  Combined malonic and methylmalonic aciduria
         H01119  Prolidase deficiency
         H01234  Trimethylaminuria
         H00923  Congenital systemic glutamine deficiency
         H01386  Asparagine synthetase deficiency
         H02312  Glutathione synthetase deficiency
         H02750  Glutathionuria
         H02774  Hypotaurinemic retinal degeneration and cardiomyopathy
         H02800  N-acetylaspartate deficiency
         H02846  Global developmental delay, progressive ataxia, and elevated glutamine
         H02847  CASGID syndrome

         H01065  Pentosuria
         H01135  Ribose 5-phosphate isomerase deficiency
         H01189  Transaldolase deficiency
         H02439  Short stature, developmental delay, congenital heart defect
         H02013  Glycerol kinase deficiency
         H00117  Primary hyperoxaluria
         H00069  Glycogen storage disease
         H00150  Danon disease
         H01375  Glucose 6-phosphate dehydrogenase deficiency
         H01760  Hepatic glycogen storage disease
         H01762  Muscle 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
         H01948  Glycogen storage disease type IX
         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
         H01954  Glycogen storage disease type XIV
         H01955  Glycogen storage disease type XV
         H01956  Glycogen storage disease of heart
         H00070  Galactosemia
         H02008  Galactose-1P uridylyltransferase deficiency
         H02009  Galactokinase deficiency
         H02010  Galactose epimerase deficiency
         H00071  Hereditary fructose intolerance
         H00114  Fructose-1,6-bisphosphatase deficiency
         H02567  Sorbitol dehydrogenase deficiency with peripheral neuropathy

         H01589  Systemic primary carnitine deficiency
         H01981  Carnitine palmitoyltransferase I deficiency
         H01982  Carnitine palmitoyltransferase II deficiency
         H01983  Carnitine-acylcarnitine translocase deficiency
         H02596  Disorders of carnitine transport and the carnitine cycle
         H00392  VLCAD deficiency
         H00488  MCAD deficiency
         H00489  LCHAD deficiency
         H00525  Disorders of mitochondrial fatty-acid oxidation
         H00925  2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency
         H01352  Mitochondrial trifunctional protein deficiency
         H01364  3-Hydroxyacyl-CoA dehydrogenase deficiency
         H01929  2,4-Dienoyl-CoA reductase deficiency
         H01980  SCAD deficiency
         H02085  Acyl-CoA dehydrogenase 9 deficiency
         H00179  3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
         H01121  Succinyl CoA:3-oxoacid CoA transferase (SCOT) deficiency
         H01123  HMG-CoA synthase deficiency
         H00162  Sjogren-Larsson syndrome
         H02284  Leukotriene C4 synthase deficiency
         H02689  Retinal dystrophy with leukodystrophy
         H00161  Smith-Lemli-Opitz syndrome
         H00206  Mevalonate kinase deficiency
         H00617  Desmosterolosis
         H01281  Lathosterolosis
         H00151  Cerebrotendinous xanthomatosis
         H00624  Progressive familial intrahepatic cholestasis
         H00628  Congenital bile acid synthesis defect
         H02099  Alpha-methylacyl-CoA racemase deficiency
         H00152  Sitosterolemia
         H00736  Dorfman-Chanarin syndrome
         H01297  Neutral lipid storage disease with myopathy
         H02527  Lipid storage myopathy due to FLAD1 deficiency
         H02711  Acetyl-CoA carboxylase-alpha deficiency

         H01427  Mitochondrial disease
         H01096  Pyruvate kinase deficiency
         H00072  Pyruvate dehydrogenase complex deficiency
         H01996  Pyruvate dehydrogenase phosphatase deficiency
         H01997  Pyruvate dehydrogenase E1-alpha deficiency
         H01998  Pyruvate dehydrogenase E1-beta deficiency
         H01999  Pyruvate dehydrogenase E2 deficiency
         H02000  Dihydrolipoamide dehydrogenase deficiency
         H02003  Pyruvate dehydrogenase E3-binding protein deficiency
         H00073  Pyruvate carboxylase deficiency
         H02197  Mitochondrial pyruvate carrier deficiency
         H02438  Hyperglycinemia, lactic acidosis, and seizures
         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
         H00469  Mitochondrial DNA depletion syndrome
         H01389  Alpers syndrome
         H01390  Mitochondrial neurogastrointestinal encephalomyopathy
         H01384  Mitochondrial recessive ataxia syndrome
         H00999  Coenzyme Q10 deficiency
         H00871  Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
         H01367  Infantile liver failure
         H01354  Leigh syndrome
         H01369  ATP synthase deficiency
         H00473  Mitochondrial complex I deficiency
         H00891  Combined oxidative phosphorylation deficiency
         H00920  Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
         H01201  Jensen syndrome
         H01368  Cytochrome c oxidase (COX) deficiency
         H01894  Multiple mitochondrial dysfunctions syndrome
         H02005  Mitochondrial complex II deficiency
         H02007  GRACILE syndrome
         H02086  Mitochondrial complex III deficiency
         H02779  Riboflavin-responsive exercise intolerance
         H01305  Global cerebral hypomyelination
         H01348  Mitochondrial phosphate carrier deficiency
         H00834  Guanidinoacetate methyltransferase deficiency
         H00849  Cerebral creatine deficiency syndrome
         H02181  Idiopathic hyperCKemia
         H02196  X-linked creatine deficiency syndrome
         H01248  Monocarboxylate transporter 1 deficiency
         H01900  Encephalopathy due to defective mitochondrial and peroxisomal fission
         H02518  Neonatal severe encephalopathy with lactic acidosis and brain abnormalities
         H02643  Lipoyltransferase 1 deficiency
         H02841  Hydrops, lactic acidosis, and sideroblastic anemia

         H00192  Xanthinuria
         H00194  Lesch-Nyhan syndrome
         H00195  Adenine phosphoribosyltransferase deficiency
         H00196  Phosphoribosylpyrophosphate synthetase superactivity
         H00197  Adenylosuccinate lyase deficiency
         H00964  Poor metabolism of thiopurines
         H00966  AICA-ribosiduria
         H02011  Familial juvenile hyperuricemic nephropathy
         H02237  AMP deaminase deficiency
         H00193  Dihydropyrimidine dehydrogenase deficiency
         H00199  Dihydropyrimidinase deficiency
         H00200  Beta-ureidopropionase deficiency
         H00290  Aicardi-Goutieres syndrome
         H00878  Cystic leukoencephalopathy without megalencephaly
         H02433  Hypomyelination with brainstem and spinal cord involvement and leg spasticity

         H02025  Myeloperoxidase deficiency
         H00208  Hyperbilirubinemia
         H02054  Crigler-Najjar syndrome
         H02055  Gilbert syndrome
         H02056  Dubin-Johnson syndrome
         H00624  Progressive familial intrahepatic cholestasis
         H02192  Benign recurrent intrahepatic cholestasis
         H00950  Arthrogryposis, renal dysfunction, and cholestasis
         H01936  Hyperbiliverdinemia
         H02057  Rotor syndrome
         H01763  Porphyria
         H00202  Hepatic porphyria
         H00201  Erythropoietic porphyria
         H02929  Heme oxygenase-1 deficiency

         H01005  Dopamine beta-hydroxylase deficiency
         H01161  Aromatic L-amino acid decarboxylase deficiency
         H02597  Sepiapterin reductase deficiency
         H00548  Brunner syndrome
         H01257  GABA-transaminase deficiency
         H02432  Butyrylcholinesterase deficiency

         H00967  Adiponectin deficiency
         H01567  Thiamine pyrophosphokinase deficiency
         H02441  HUPRA syndrome
         H02727  Triokinase and FMN cyclase deficiency syndrome

         H01252  Hereditary folate malabsorption
         H01262  Formiminotransferase deficiency
         H01295  Neurodegeneration due to cerebral folate transport deficiency
         H02761  Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
         H00214  Hypophosphatemic rickets
         H02139  Autosomal recessive hypophosphatemic rickets
         H02141  Autosomal dominant hypophosphatemic rickets
         H02142  X-linked recessive hypophosphatemic rickets
         H02143  X-linked dominant hypophosphatemic rickets
         H00990  Microcephaly, Amish type
         H01124  Pyridoxamine-5'-phosphate oxidase (PNPO) deficiency
         H01183  Thiamine-responsive megaloblastic anemia
         H01231  Biotin-thiamine-responsive basal ganglia disease
         H02662  Sulfide quinone oxidoreductase deficiency
         H02671  Sodium-dependent multivitamin transporter deficiency
         H02699  Folate-responsive megaloblastic anemia
         H02832  Thiamine metabolism dysfunction syndrome

       H00513  Transient neonatal diabetes mellitus
       H00512  Permanent neonatal diabetes mellitus
       H01377  Mitchell-Riley syndrome

       H02744  Neurofacioskeletal syndrome with or without renal agenesis
       H02798  Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome

       H00979  Sacral defect with anterior meningocele
       H02129  Prune belly syndrome
       H01195  VACTERL/VATER association
       H00261  Meckel syndrome
       H01738  Noonan syndrome
       H00610  Treacher Collins syndrome
       H01838  Mandibulofacial dysostosis with microcephaly
       H02126  Mandibulofacial dysostosis with alopecia
       H02211  Acrodysostosis
       H02673  Craniofacial microsomia
       H00433  Holt-Oram syndrome
       H00453  Branchio-oto-renal syndrome
       H00460  Hand-foot-genital syndrome
       H00463  Currarino syndrome
       H00500  Keutel syndrome
       H00502  Pallister-Hall syndrome
       H00504  Rubinstein-Taybi syndrome
       H00510  Feingold syndrome
       H00523  Noonan syndrome and related disorders
       H00555  Char syndrome
       H00556  CHARGE syndrome
       H00569  Aarskog-Scott syndrome
       H00570  Kabuki syndrome
       H00572  Roberts-SC phocomelia syndrome
       H00573  Townes-Brocks syndrome
       H00574  Coffin-Lowry syndrome
       H00583  Opitz-GBBB syndrome
       H00611  Popliteal pterygium syndrome (PPS)
       H00631  Cornelia de Lange syndrome
       H00634  Duane-radial ray syndrome
       H00637  Ulnar-mammary syndrome
       H00685  Bifid nose with or without anorectal and renal anomalies
       H00686  Manitoba oculotrichoanal syndrome
       H00709  Birk Barel mental retardation syndrome (BBMRS)
       H00711  Russell-Silver syndrome
       H00753  Urofacial syndrome
       H00756  Pitt-Hopkins syndrome
       H00797  Martsolf syndrome
       H00817  Branchiooculofacial syndrome
       H00868  Stapes ankylosis with broad thumb and toes
       H00886  Donnai-Barrow syndrome
       H00889  Lujan-Fryns syndrome
       H00894  FG syndrome
       H00907  Kleefstra syndrome
       H00908  Mowat-Wilson syndrome
       H00914  Warsaw breakage syndrome
       H00926  Growth retardation, developmental delay, coarse facies, and early death
       H00934  Caudal duplication anomaly
       H00936  Goldberg-Shprintzen megacolon syndrome
       H00943  TARP syndrome
       H00965  RAPADILINO syndrome
       H00972  Endocrine-cerebro-osteodysplasia syndrome
       H00987  Fetal akinesia deformation sequence
       H00997  CATSHL syndrome
       H01026  Renal coloboma syndrome
       H01030  Congenital arthrogryposis with anterior horn cell disease
       H01156  STAR syndrome
       H01220  Congenital cataracts, facial dysmorphism, and neuropathy
       H01265  Hydrolethalus syndrome
       H01289  Mulibrey nanism
       H01292  Nance-Horan syndrome
       H01370  SHORT syndrome
       H01393  Van Maldergem syndrome
       H01402  Nicolaides-Baraitser syndrome
       H01413  Adams-Oliver syndrome
       H01568  3C syndrome
       H01569  CHOPS syndrome
       H01573  Zimmermann-Laband syndrome
       H01745  Cardiofaciocutaneous syndrome
       H01747  Costello syndrome
       H01793  Young-Simpson syndrome
       H01794  Genitopatellar syndrome
       H01795  Blepharophimosis-mental retardation syndrome
       H01797  Webb-Dattani syndrome
       H01814  Stromme syndrome
       H01839  Burn-McKeown syndrome
       H01840  Moebius syndrome
       H01845  Catel-Manzke syndrome
       H01869  Megacystis microcolon intestinal hypoperistalsis syndrome
       H01878  Al-Raqad syndrome
       H01879  Wiedemann-Steiner syndrome
       H01887  3MC syndrome
       H01908  Carey-Fineman-Ziter syndrome
       H01917  CK syndrome
       H01923  Microcephaly, short stature, and impaired glucose metabolism
       H01927  Van der Woude syndrome
       H01930  Au-Kline syndrome
       H01932  Ablepharon-macrostomia syndrome
       H01984  Leopard syndrome
       H02023  Baraitser-Winter syndrome
       H02046  OFC syndrome
       H02072  Stickler syndrome
       H02074  Knobloch syndrome
       H02082  Floating-Harbor syndrome
       H02087  Vertebral, cardiac, renal, and limb defects syndrome
       H02102  Myhre syndrome
       H02180  McKusick-Kaufman syndrome
       H02190  CBL syndrome
       H02191  Noonan-like syndrome with loose anagen hair
       H02198  Pancreatic agenesis and congenital heart disease
       H02232  CAGSSS syndrome
       H02248  MEND syndrome
       H02249  Primrose syndrome
       H02253  Beaulieu-Boycott-Innes syndrome
       H02255  FDLAB syndrome
       H02260  Chondrodysplasia Chassaing-Lacombe type
       H02271  Cerebellofaciodental syndrome
       H02274  Cerebellar atrophy, visual impairment, and psychomotor retardation
       H02283  IVIC syndrome
       H02324  Sacral agenesis with vertebral anomalies
       H02327  KBG syndrome
       H02328  Sifrim-Hitz-Weiss syndrome
       H02334  Pierpont syndrome
       H02364  Heart and brain malformation syndrome
       H02368  Developmental delay with short stature, dysmorphic facial features, and sparse hair
       H02369  IMAGE-I syndrome
       H02370  FILS syndrome
       H02376  Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
       H02381  Cleft palate, psychomotor retardation, and distinctive facial features
       H02382  Bainbridge-Ropers syndrome
       H02383  Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
       H02391  Infantile-onset multisystem neurologic, endocrine, and pancreatic disease
       H02394  Cleft palate, cardiac defects, and mental retardation
       H02453  Congenital heart defects and ectodermal dysplasia
       H02454  Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
       H02455  Congenital heart defects, hamartomas of tongue, and polysyndactyly
       H02478  CATIFA syndrome
       H02479  Nivelon-Nivelon-Mabille syndrome
       H02481  Syndromic disorder with short stature
       H02482  ROSAH syndrome
       H02483  Basel-Vanagaite-Smirin-Yosef syndrome
       H02493  Al Kaissi syndrome
       H02496  Cerebellar, ocular, craniofacial, and genital syndrome
       H02500  Congenital interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
       H02503  Richieri-Costa-Pereira syndrome
       H02506  Cardioacrofacial dysplasia
       H02508  Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
       H02533  Kaufman oculocerebrofacial syndrome
       H02581  Juberg-Hayward syndrome
       H02595  Oculoskeletodental syndrome
       H02607  Short stature and microcephaly with genital anomalies
       H02619  Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
       H02625  Primordial dwarfism-immunodeficiency-lipodystrophy syndrome
       H02641  Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
       H02650  Menke-Hennekam syndrome
       H02694  Alazami-Yuan syndrome
       H02725  Heart-hand syndrome
       H02876  Cantu syndrome
       H02884  RHYNS syndrome
       H02926  Elsahy-Waters syndrome
       H02927  DEEAH syndrome
       H02943  Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome
       H02953  Uruguay facio-cardio-musculo-skeletal syndrome
       H01824  CODAS syndrome
       H01850  Hartsfield syndrome
       H01857  Filippi syndrome
       H02343  EVEN-plus syndrome
       H02465  Weiss-Kruszka syndrome
       H02547  BRENS syndrome
       H02548  CIMDAG syndrome
       H02549  Cerebellar ataxia, brain abnormalities, and cardiac conduction defects
       H02578  Short stature, microcephaly, and endocrine dysfunction
       H02638  Zaki syndrome
       H02639  Atelis syndrome
       H02663  Braddock-Carey syndrome
       H02667  Takenouchi-Kosaki syndrome
       H02710  Yuksel-Vogel-Bauer syndrome
       H02733  Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies
       H02747  Oculogastrointestinal neurodevelopmental syndrome
       H02748  Hepatorenocardiac degenerative fibrosis
       H02753  Vertebral anomalies and variable endocrine and T-cell dysfunction
       H02759  Suleiman-El-Hattab syndrome
       H02762  Osteo-oto-hepato-enteric syndrome
       H02763  Neurocardiofaciodigital syndrome
       H02764  Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
       H02772  Neurooculocardiogenitourinary syndrome
       H02780  Liberfarb syndrome
       H02850  TIMES syndrome
       H02851  Muggenthaler-Chowdhury-Chioza syndrome
       H02860  Gillespie syndrome
       H02905  Santos syndrome
       H02910  Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
       H02950  Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and Leber congenital amaurosis
       H02961  Guillouet-Gordon syndrome
       H02968  Curry-Jones syndrome
       H02969  Hardikar syndrome
       H02978  FICUS syndrome
       H02981  Neurooculorenal syndrome
       H02982  Congenital heart defects and skeletal malformations syndrome
       H02991  Alsahan-Harris syndrome