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- Rare inborn errors of metabolism ORPHA:68367
- Congenital disorder of glycosylation ORPHA:137
- Disorder of protein N-glycosylation ORPHA:309347
- PMM2-CDG ORPHA:79318
- MPI-CDG ORPHA:79319
- ALG6-CDG ORPHA:79320
- ALG3-CDG ORPHA:79321
- ALG12-CDG ORPHA:79324
- ALG8-CDG ORPHA:79325
- ALG2-CDG ORPHA:79326
- ALG1-CDG ORPHA:79327
- ALG9-CDG ORPHA:79328
- MGAT2-CDG ORPHA:79329
- MOGS-CDG ORPHA:79330
- DPAGT1-CDG ORPHA:86309
- RFT1-CDG ORPHA:244310
- ALG11-CDG ORPHA:280071
- DDOST-CDG ORPHA:300536
- TMEM165-CDG ORPHA:314667
- PGM1-CDG ORPHA:319646
- ALG13-CDG ORPHA:324422
- Congenital myasthenic syndromes with glycosylation defect ORPHA:353327
- STT3A-CDG ORPHA:370921
- STT3B-CDG ORPHA:370924
- SSR4-CDG ORPHA:370927
- Autism spectrum disorder-epilepsy-arthrogryposis syndrome ORPHA:370943
- MAN1B1-CDG ORPHA:397941
- SLC39A8-CDG ORPHA:468699
- Disorder of protein O-glycosylation ORPHA:309447
- Disorder of O-xylosylglycan synthesis ORPHA:309450
- Seizures-scoliosis-macrocephaly syndrome ORPHA:466926
- POGLUT1-related limb-girdle muscular dystrophy R21 ORPHA:480682
- Multiple osteochondromas ORPHA:321
- Musculocontractural Ehlers-Danlos syndrome ORPHA:2953
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:75496
- CHST3-related skeletal dysplasia ORPHA:263463
- Larsen-like syndrome, B3GAT3 type ORPHA:284139
- Temtamy preaxial brachydactyly syndrome ORPHA:363417
- XYLT1-CDG ORPHA:370930
- B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:536467
- Disorder of O-N-acetylgalactosaminylglycan synthesis ORPHA:309458
- Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis ORPHA:309463
- Disorder of O-mannosylglycan synthesis ORPHA:309469
- Congenital muscular dystrophy, Fukuyama type ORPHA:272
- Walker-Warburg syndrome ORPHA:899
- Muscle-eye-brain disease ORPHA:588
- FKRP-related limb-girdle muscular dystrophy R9 ORPHA:34515
- POMT1-related limb-girdle muscular dystrophy R11 ORPHA:86812
- Fukutin-related limb-girdle muscular dystrophy R13 ORPHA:206554
- POMT2-related limb-girdle muscular dystrophy R14 ORPHA:206559
- POMGNT1-related limb-girdle muscular dystrophy R15 ORPHA:206564
- ISPD-related limb-girdle muscular dystrophy R20 ORPHA:352479
- GMPPB-related limb-girdle muscular dystrophy R19 ORPHA:363623
- Congenital muscular dystrophy with cerebellar involvement ORPHA:370959
- Congenital muscular dystrophy with intellectual disability ORPHA:370968
- Congenital muscular dystrophy without intellectual disability ORPHA:370980
- Limb-girdle muscular dystrophy due to POMK deficiency ORPHA:445110
- Disorder of fucoglycosan synthesis ORPHA:309505
- Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation ORPHA:309515
- Autosomal recessive spastic paraplegia type 67 ORPHA:401820
- Multiple congenital anomalies-hypotonia-seizures syndrome type 2 ORPHA:300496
- GM3 synthase deficiency ORPHA:370933
- Ferro-cerebro-cutaneous syndrome ORPHA:397922
- Paroxysmal nocturnal hemoglobinuria ORPHA:447
- CHIME syndrome ORPHA:3474
- Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency ORPHA:83639
- Hyperphosphatasia-intellectual disability syndrome ORPHA:247262
- Multiple congenital anomalies-hypotonia-seizures syndrome ORPHA:280633
- Early-onset epilepsy-intellectual disability-brain anomalies syndrome ORPHA:488635
- Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome ORPHA:369837
- Disorder of multiple glycosylation ORPHA:309526
- GNE myopathy ORPHA:602
- DPM1-CDG ORPHA:79322
- MPDU1-CDG ORPHA:79323
- B4GALT1-CDG ORPHA:79332
- DK1-CDG ORPHA:91131
- Congenital dyserythropoietic anemia type II ORPHA:98873
- Leukocyte adhesion deficiency type II ORPHA:99843
- SLC35A1-CDG ORPHA:238459
- DPM3-CDG ORPHA:263494
- Defect in conserved oligomeric Golgi complex ORPHA:309568
- COG6-CGD ORPHA:464443
- COG7-CDG ORPHA:79333
- COG8-CDG ORPHA:95428
- COG5-CDG ORPHA:263487
- COG4-CDG ORPHA:263501
- COG1-CDG ORPHA:263508
- COG2-CDG ORPHA:435934
- Defect in V-ATPase ORPHA:309778
- SRD5A3-CDG ORPHA:324737
- Congenital muscular dystrophy with intellectual disability and severe epilepsy ORPHA:329178
- SLC35A2-CDG ORPHA:356961
- PGM3-CDG ORPHA:443811
- CAD-CDG ORPHA:448010
- TMEM199-CDG ORPHA:466703
- ATP6AP1-CDG ORPHA:692790
- CCDC115-CDG ORPHA:468684
- Lysosomal disease ORPHA:68366
- Autosomal recessive spastic paraplegia type 48 ORPHA:306511
- Pycnodysostosis ORPHA:763
- Neuronal ceroid lipofuscinosis ORPHA:216
- Progressive epilepsy-intellectual disability syndrome, Finnish type ORPHA:1947
- CLN1 disease ORPHA:228329
- CLN2 disease ORPHA:228349
- CLN3 disease ORPHA:228346
- CLN4 disease ORPHA:228343
- CLN12 disease ORPHA:314632
- CLN11 disease ORPHA:314629
- CLN5 disease ORPHA:228360
- CLN6 disease ORPHA:228363
- CLN7 disease ORPHA:228366
- CLN8 disease ORPHA:228354
- CLN13 disease ORPHA:352709
- CLN10 disease ORPHA:228337
- Lysosomal acid phosphatase deficiency ORPHA:35121
- Disorder of lysosomal amino acid transport ORPHA:79207
- Cystinosis ORPHA:213
- Infantile nephropathic cystinosis ORPHA:411629
- Juvenile nephropathic cystinosis ORPHA:411634
- Ocular cystinosis ORPHA:411641
- Free sialic acid storage disease ORPHA:834
- Mucopolysaccharidosis ORPHA:79213
- Mucopolysaccharidosis type 6 ORPHA:583
- Mucopolysaccharidosis type 6, rapidly progressing ORPHA:276212
- Mucopolysaccharidosis type 6, slowly progressing ORPHA:276223
- Mucopolysaccharidosis type 7 ORPHA:584
- Mucopolysaccharidosis type 2 ORPHA:580
- Mucopolysaccharidosis type 2, severe form ORPHA:217085
- Mucopolysaccharidosis type 2, attenuated form ORPHA:217093
- Mucopolysaccharidosis type 1 ORPHA:579
- Mucopolysaccharidosis type 3 ORPHA:581
- Sanfilippo syndrome type A ORPHA:79269
- Sanfilippo syndrome type B ORPHA:79270
- Sanfilippo syndrome type C ORPHA:79271
- Sanfilippo syndrome type D ORPHA:79272
- Mucopolysaccharidosis type 4 ORPHA:582
- Hyaluronidase deficiency ORPHA:67041
- Mucopolysaccharidosis type 10 ORPHA:662216
- Sphingolipidosis ORPHA:79225
- Multiple sulfatase deficiency ORPHA:585
- Farber disease ORPHA:333
- Krabbe disease ORPHA:487
- Late-infantile/juvenile Krabbe disease ORPHA:206443
- Adult Krabbe disease ORPHA:206448
- Infantile Krabbe disease ORPHA:206436
- Fabry disease ORPHA:324
- Metachromatic leukodystrophy ORPHA:512
- Metachromatic leukodystrophy, late infantile form ORPHA:309256
- Metachromatic leukodystrophy, juvenile form ORPHA:309263
- Metachromatic leukodystrophy, adult form ORPHA:309271
- Gaucher disease ORPHA:355
- Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome ORPHA:2072
- Gaucher disease type 1 ORPHA:77259
- Gaucher disease type 2 ORPHA:77260
- Gaucher disease type 3 ORPHA:77261
- Fetal Gaucher disease ORPHA:85212
- Atypical Gaucher disease due to saposin C deficiency ORPHA:309252
- Lipid storage disease ORPHA:79204
- Niemann-Pick disease type C ORPHA:646
- Niemann-Pick disease type C, severe perinatal form ORPHA:216972
- Niemann-Pick disease type C, severe early infantile neurologic onset ORPHA:216975
- Niemann-Pick disease type C, late infantile neurologic onset ORPHA:216978
- Niemann-Pick disease type C, juvenile neurologic onset ORPHA:216981
- Niemann-Pick disease type C, adult neurologic onset ORPHA:216986
- Lysosomal acid lipase deficiency ORPHA:275761
- Encephalopathy due to prosaposin deficiency ORPHA:139406
- Gangliosidosis ORPHA:309144
- GM1 gangliosidosis ORPHA:354
- GM1 gangliosidosis type 1 ORPHA:79255
- GM1 gangliosidosis type 2 ORPHA:79256
- GM1 gangliosidosis type 3 ORPHA:79257
- GM2 gangliosidosis ORPHA:309152
- Sandhoff disease ORPHA:796
- Sandhoff disease, infantile form ORPHA:309155
- Sandhoff disease, juvenile form ORPHA:309162
- Sandhoff disease, adult form ORPHA:309169
- Tay-Sachs disease ORPHA:845
- Tay-Sachs disease, infantile form ORPHA:309178
- Tay-Sachs disease, juvenile form ORPHA:309185
- Tay-Sachs disease, adult form ORPHA:309192
- GM2 gangliosidosis, AB variant ORPHA:309246
- Autosomal recessive cerebellar ataxia with late-onset spasticity ORPHA:352641
- Acid sphingomyelinase deficiency ORPHA:618899
- Glycoproteinosis ORPHA:309279
- Mucolipidosis ORPHA:79212
- Oligosaccharidosis ORPHA:79215
- Alpha-mannosidosis ORPHA:61
- Aspartylglucosaminuria ORPHA:93
- Beta-mannosidosis ORPHA:118
- Fucosidosis ORPHA:349
- Galactosialidosis ORPHA:351
- Alpha-N-acetylgalactosaminidase deficiency ORPHA:3137
- Alpha-N-acetylgalactosaminidase deficiency type 1 ORPHA:79279
- Alpha-N-acetylgalactosaminidase deficiency type 2 ORPHA:79280
- Alpha-N-acetylgalactosaminidase deficiency type 3 ORPHA:79281
- Sialidosis ORPHA:309294
- Disorder of sialic acid metabolism ORPHA:309319
- Lysosomal glycogen storage disease ORPHA:309337
- Peroxisomal disease ORPHA:68373
- Peroxisome biogenesis disorder ORPHA:79189
- Zellweger syndrome ORPHA:912
- Neonatal adrenoleukodystrophy ORPHA:44
- Infantile Refsum disease ORPHA:772
- Disorder of peroxisomal alpha-, beta- and omega-oxidation ORPHA:309810
- Refsum disease ORPHA:773
- Acatalasemia ORPHA:926
- Glutaric acidemia type 3 ORPHA:35706
- Congenital bile acid synthesis defect type 4 ORPHA:79095
- Peroxisomal beta-oxidation disorder ORPHA:79188
- Peroxisomal acyl-CoA oxidase deficiency ORPHA:2971
- X-linked adrenoleukodystrophy ORPHA:43
- Bifunctional enzyme deficiency ORPHA:300
- Leukoencephalopathy-dystonia-motor neuropathy syndrome ORPHA:163684
- Primary hyperoxaluria type 1 ORPHA:93598
- CADDS ORPHA:369942
- Disorder of plasmalogens biosynthesis ORPHA:3276
- Rhizomelic chondrodysplasia punctata ORPHA:177
- Rhizomelic chondrodysplasia punctata type 3 ORPHA:309803
- Rhizomelic chondrodysplasia punctata type 1 ORPHA:309789
- Rhizomelic chondrodysplasia punctata type 2 ORPHA:309796
- Rhizomelic chondrodysplasia punctata type 5 ORPHA:468717
- Fatty acyl-CoA reductase 1 deficiency ORPHA:438178
- Autosomal recessive ataxia due to PEX16 deficiency ORPHA:642954
- Autosomal recessive ataxia due to PEX2 deficiency ORPHA:642965
- Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome ORPHA:95433
- Autosomal recessive ataxia due to PEX10 deficiency ORPHA:247815
- Disorder of amino acid and other organic acid metabolism ORPHA:79062
- Severe primary trimethylaminuria ORPHA:468726
- Disorder of amino acid absorption and transport ORPHA:79166
- Oculocerebrorenal syndrome of Lowe ORPHA:534
- Cystinuria ORPHA:214
- Dicarboxylic aminoaciduria ORPHA:2195
- Lysinuric protein intolerance ORPHA:470
- Blue diaper syndrome ORPHA:94086
- Hypotonia-cystinuria type 1 syndrome ORPHA:238517
- Hypotonia-cystinuria syndrome ORPHA:163690
- 2p21 microdeletion syndrome ORPHA:163693
- Atypical hypotonia-cystinuria syndrome ORPHA:238523
- Disorder of neutral amino acid transport ORPHA:308451
- Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome ORPHA:363429
- Disorder of urea cycle metabolism and ammonia detoxification ORPHA:79167
- Argininemia ORPHA:90
- Argininosuccinic aciduria ORPHA:23
- Carbamoyl-phosphate synthetase 1 deficiency ORPHA:147
- Citrullinemia ORPHA:187
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome ORPHA:415
- Hyperammonemia due to N-acetylglutamate synthase deficiency ORPHA:927
- Hyperinsulinism-hyperammonemia syndrome ORPHA:35878
- Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ORPHA:401948
- Ornithine transcarbamylase deficiency ORPHA:664
- Disorder of methionine cycle and sulfur amino acid metabolism ORPHA:79173
- Autosomal recessive extra-oral halitosis ORPHA:562538
- Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome ORPHA:619979
- Homocystinuria due to cystathionine beta-synthase deficiency ORPHA:394
- Encephalopathy due to sulfite oxidase deficiency ORPHA:833
- Isolated sulfite oxidase deficiency ORPHA:99731
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency ORPHA:99732
- Cystathioninuria ORPHA:212
- Homocystinuria without methylmalonic aciduria ORPHA:622
- Methylcobalamin deficiency type cblE ORPHA:2169
- Methylcobalamin deficiency type cblG ORPHA:2170
- Methylcobalamin deficiency type cblDv1 ORPHA:308380
- S-adenosylhomocysteine hydrolase deficiency ORPHA:88618
- Methionine adenosyltransferase I/III deficiency ORPHA:168598
- Hypermethioninemia encephalopathy due to adenosine kinase deficiency ORPHA:289290
- Hypermethioninemia due to glycine N-methyltransferase deficiency ORPHA:289891
- Beta-mercaptolactate cysteine disulfiduria ORPHA:1035
- Disorder of histidine metabolism ORPHA:79181
- Histidinemia ORPHA:2157
- Urocanic aciduria ORPHA:210128
- Histidinuria-renal tubular defect syndrome ORPHA:2158
- Disorder of ornithine or proline metabolism ORPHA:79185
- Disorder of proline metabolism ORPHA:289866
- De Barsy syndrome ORPHA:2962
- Hyperprolinemia type 1 ORPHA:419
- Hyperprolinemia type 2 ORPHA:79101
- Autosomal recessive cutis laxa type 2 ORPHA:90350
- Disorder of ornithine metabolism ORPHA:289869
- Disorder of peptide metabolism ORPHA:79187
- Disorder of phenylalanin or tyrosine metabolism ORPHA:79190
- Disorder of phenylalanine metabolism ORPHA:284814
- Phenylketonuria ORPHA:716
- Mild phenylketonuria ORPHA:79253
- Classic phenylketonuria ORPHA:79254
- Mild hyperphenylalaninemia ORPHA:79651
- Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria ORPHA:293284
- Maternal phenylketonuria syndrome ORPHA:2209
- Disorder of tyrosine metabolism ORPHA:284818
- Disorder of serine or glycine metabolism ORPHA:79194
- Sarcosinemia ORPHA:3129
- Glycine encephalopathy ORPHA:407
- Neonatal glycine encephalopathy ORPHA:289857
- Infantile glycine encephalopathy ORPHA:289860
- Atypical glycine encephalopathy ORPHA:289863
- Neurometabolic disorder due to serine deficiency ORPHA:35705
- Neu-Laxova syndrome ORPHA:2671
- Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency ORPHA:583602
- Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency ORPHA:583607
- Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency ORPHA:583612
- Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome ORPHA:447997
- Serine biosynthesis pathway deficiency, infantile/juvenile form ORPHA:583595
- Dimethylglycine dehydrogenase deficiency ORPHA:243343
- Disorder of the gamma-glutamyl cycle ORPHA:79196
- Glutathione synthetase deficiency ORPHA:32
- Glutathione synthetase deficiency with 5-oxoprolinuria ORPHA:289846
- Glutathione synthetase deficiency without 5-oxoprolinuria ORPHA:289849
- 5-oxoprolinase deficiency ORPHA:33572
- Gamma-glutamyl transpeptidase deficiency ORPHA:33573
- Glutamate-cysteine ligase deficiency ORPHA:33574
- Disorder of branched-chain amino acid metabolism ORPHA:79197
- Maple syrup urine disease ORPHA:511
- Classic maple syrup urine disease ORPHA:268145
- Intermediate maple syrup urine disease ORPHA:268162
- Intermittent maple syrup urine disease ORPHA:268173
- Thiamine-responsive maple syrup urine disease ORPHA:268184
- Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency ORPHA:289307
- Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency ORPHA:308410
- Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ORPHA:401948
- Disorder of tryptophan metabolism ORPHA:289829
- Disorder of lysine and hydroxylysine metabolism ORPHA:289832
- Hyperlysinemia ORPHA:2203
- Saccharopinuria ORPHA:3124
- 2-aminoadipic 2-oxoadipic aciduria ORPHA:79154
- Seizures-intellectual disability due to hydroxylysinuria syndrome ORPHA:79156
- Disorder of glutamine metabolism ORPHA:289841
- Spastic ataxia-dysarthria due to glutaminase deficiency ORPHA:557056
- Neonatal epileptic encephalopathy due to glutaminase deficiency ORPHA:557064
- Congenital brain dysgenesis due to glutamine synthetase deficiency ORPHA:71278
- Organic aciduria ORPHA:289899
- Cerebral organic aciduria ORPHA:79158
- Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency ORPHA:653880
- 2-hydroxyglutaric aciduria ORPHA:19
- L-2-hydroxyglutaric aciduria ORPHA:79314
- D-2-hydroxyglutaric aciduria ORPHA:79315
- D,L-2-hydroxyglutaric aciduria ORPHA:356978
- Glutaryl-CoA dehydrogenase deficiency ORPHA:25
- Aminoacylase deficiency ORPHA:308448
- HSD10 disease ORPHA:391417
- Classic organic aciduria ORPHA:79163
- Isovaleric acidemia ORPHA:33
- Multiple carboxylase deficiency ORPHA:148
- Methylmalonic acidemia with homocystinuria ORPHA:26
- Methylmalonic acidemia with homocystinuria, type cblC ORPHA:79282
- Methylmalonic acidemia with homocystinuria, type cblD ORPHA:79283
- Methylmalonic acidemia with homocystinuria type cblF ORPHA:79284
- Methylmalonic acidemia with homocystinuria, type cblJ ORPHA:369955
- Methylmalonic acidemia with homocystinuria, type cblX ORPHA:369962
- Beta-ketothiolase deficiency ORPHA:134
- 3-hydroxyisobutyric aciduria ORPHA:939
- 3-hydroxy-3-methylglutaric aciduria ORPHA:20
- 3-methylcrotonyl-CoA carboxylase deficiency ORPHA:6
- Propionic acidemia ORPHA:35
- 2-methylbutyryl-CoA dehydrogenase deficiency ORPHA:79157
- Isobutyryl-CoA dehydrogenase deficiency ORPHA:79159
- Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency ORPHA:88639
- Combined malonic and methylmalonic acidemia ORPHA:289504
- 3-methylglutaconic aciduria ORPHA:289902
- 3-methylglutaconic aciduria type 8 ORPHA:505208
- Barth syndrome ORPHA:111
- Dilated cardiomyopathy with ataxia ORPHA:66634
- 3-methylglutaconic aciduria type 1 ORPHA:67046
- 3-methylglutaconic aciduria type 3 ORPHA:67047
- 3-methylglutaconic aciduria type 4 ORPHA:67048
- MEGDEL syndrome ORPHA:352328
- 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome ORPHA:445038
- 3-methylglutaconic aciduria type 9 ORPHA:505216
- Methylmalonic acidemia without homocystinuria ORPHA:293355
- Vitamin B12-unresponsive methylmalonic acidemia ORPHA:27
- Vitamin B12-unresponsive methylmalonic acidemia type mut- ORPHA:79312
- Vitamin B12-unresponsive methylmalonic acidemia type mut0 ORPHA:289916
- Vitamin B12-responsive methylmalonic acidemia ORPHA:28
- Vitamin B12-responsive methylmalonic acidemia type cblA ORPHA:79310
- Vitamin B12-responsive methylmalonic acidemia type cblB ORPHA:79311
- Vitamin B12-responsive methylmalonic acidemia, type cblDv2 ORPHA:308442
- Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency ORPHA:308425
- Disorder of beta and omega amino acid metabolism ORPHA:308407
- Disorder of melanin metabolism ORPHA:352728
- Oculocutaneous albinism ORPHA:55
- Oculocutaneous albinism type 2 ORPHA:79432
- Oculocutaneous albinism type 3 ORPHA:79433
- Oculocutaneous albinism type 4 ORPHA:79435
- Oculocutaneous albinism type 1 ORPHA:352731
- Oculocutaneous albinism type 1A ORPHA:79431
- Oculocutaneous albinism type 1B ORPHA:79434
- Minimal pigment oculocutaneous albinism type 1 ORPHA:352734
- Temperature-sensitive oculocutaneous albinism type 1 ORPHA:352737
- Oculocutaneous albinism type 7 ORPHA:352745
- Oculocutaneous albinism type 5 ORPHA:370091
- Oculocutaneous albinism type 6 ORPHA:370097
- Oculocutaneous albinism type 8 ORPHA:597733
- Ocular albinism ORPHA:284804
- Disorder of asparagine metabolism ORPHA:391381
- Disorder of carbohydrate metabolism ORPHA:79161
- Gluconeogenesis disorder ORPHA:79177
- Fructose-1,6-bisphosphatase deficiency ORPHA:348
- Phosphoenolpyruvate carboxykinase deficiency ORPHA:2880
- Pyruvate carboxylase deficiency ORPHA:3008
- Pyruvate carboxylase deficiency, infantile type ORPHA:353308
- Pyruvate carboxylase deficiency, severe neonatal type ORPHA:353314
- Pyruvate carboxylase deficiency, benign type ORPHA:353320
- Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ORPHA:401948
- Disorder of glycerol metabolism ORPHA:79179
- Glycogen storage disease ORPHA:79201
- Glycogen storage disease due to acid maltase deficiency ORPHA:365
- Glycogen storage disease due to acid maltase deficiency, infantile onset ORPHA:308552
- Glycogen storage disease due to acid maltase deficiency, late-onset ORPHA:420429
- Glycogen storage disease due to glycogen debranching enzyme deficiency ORPHA:366
- Glycogen storage disease due to glycogen branching enzyme deficiency ORPHA:367
- Adult polyglucosan body disease ORPHA:206583
- Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form ORPHA:308621
- Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form ORPHA:308638
- Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form ORPHA:308655
- Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form ORPHA:308670
- Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form ORPHA:308684
- Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form ORPHA:308698
- Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form ORPHA:308712
- Glycogen storage disease due to muscle glycogen phosphorylase deficiency ORPHA:368
- Glycogen storage disease due to liver glycogen phosphorylase deficiency ORPHA:369
- Glycogen storage disease due to muscle phosphofructokinase deficiency ORPHA:371
- Glycogen storage disease due to phosphorylase kinase deficiency ORPHA:370
- Glycogen storage disease due to muscle phosphorylase kinase deficiency ORPHA:715
- Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency ORPHA:79240
- Glycogen storage disease due to liver phosphorylase kinase deficiency ORPHA:264580
- Glycogen storage disease due to glucose-6-phosphatase deficiency ORPHA:364
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia ORPHA:79258
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib ORPHA:79259
- Glycogen storage disease due to aldolase A deficiency ORPHA:57
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency ORPHA:713
- Fanconi-Bickel syndrome ORPHA:2088
- Glycogen storage disease due to lactate dehydrogenase deficiency ORPHA:2364
- Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency ORPHA:284426
- Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency ORPHA:284435
- Danon disease ORPHA:34587
- Glycogen storage disease due to phosphoglycerate mutase deficiency ORPHA:97234
- Glycogen storage disease due to muscle beta-enolase deficiency ORPHA:99849
- Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency ORPHA:263297
- Glycogen storage disease due to glycogen synthase deficiency ORPHA:308520
- Glycogen storage disease due to hepatic glycogen synthase deficiency ORPHA:2089
- Glycogen storage disease due to muscle and heart glycogen synthase deficiency ORPHA:137625
- Polyglucosan body myopathy type 1 ORPHA:397937
- Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease ORPHA:439854
- PGM1-CDG ORPHA:319646
- Polyglucosan body myopathy type 2 ORPHA:456369
- Disorder of glycolysis ORPHA:308459
- Triose phosphate-isomerase deficiency ORPHA:868
- Hemolytic anemia due to glucophosphate isomerase deficiency ORPHA:712
- Congenital glucokinase-related hyperinsulinism ORPHA:79299
- Disorder of fructose metabolism ORPHA:308463
- Hereditary fructose intolerance ORPHA:469
- Fructose-1,6-bisphosphatase deficiency ORPHA:348
- Essential fructosuria ORPHA:2056
- Disorder of galactose metabolism ORPHA:308467
- Disorder of glyoxylate metabolism ORPHA:308998
- Disorder of carbohydrate absorption and transport ORPHA:309001
- Hereditary fructose intolerance ORPHA:469
- Congenital sucrase-isomaltase deficiency ORPHA:35122
- Congenital lactase deficiency ORPHA:53690
- Glucose transport disorder ORPHA:79178
- Fanconi-Bickel syndrome ORPHA:2088
- Glucose-galactose malabsorption ORPHA:35710
- Familial renal glucosuria ORPHA:69076
- Classic glucose transporter type 1 deficiency syndrome ORPHA:71277
- Chronic diarrhea due to glucoamylase deficiency ORPHA:103907
- Trehalase deficiency ORPHA:103909
- Exercise-induced hyperinsulinism ORPHA:165991
- Juvenile cataract-microcornea-renal glucosuria syndrome ORPHA:247794
- Disorders of pentose/polyol metabolism ORPHA:440701
- Disorder of energy metabolism ORPHA:79200
- Mitochondrial disease ORPHA:68380
- Mitochondrial oxidative phosphorylation disorder ORPHA:223713
- Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies ORPHA:2443
- Encephalopathy due to mitochondrial and peroxisomal fission defect ORPHA:527276
- DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect ORPHA:330050
- MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect ORPHA:485421
- Parkinsonism with polyneuropathy ORPHA:611237
- Leigh syndrome ORPHA:506
- Fatal infantile cytochrome C oxidase deficiency ORPHA:1561
- Coenzyme Q10 deficiency ORPHA:35656
- Ataxia-oculomotor apraxia type 1 ORPHA:1168
- Autosomal recessive ataxia due to ubiquinone deficiency ORPHA:139485
- Deafness-encephaloneuropathy-obesity-valvulopathy syndrome ORPHA:254898
- Familial steroid-resistant nephrotic syndrome with sensorineural deafness ORPHA:280406
- Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome ORPHA:319678
- Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ORPHA:457185
- COQ7-related distal hereditary motor neuropathy ORPHA:658778
- Mitochondrial disorder due to a defect in mitochondrial protein synthesis ORPHA:35696
- Mitochondrial myopathy and sideroblastic anemia ORPHA:2598
- Perrault syndrome ORPHA:2855
- Spastic paraplegia type 7 ORPHA:99013
- Spinocerebellar ataxia type 28 ORPHA:101109
- Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ORPHA:137681
- Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ORPHA:137898
- Hypotonia with lactic acidemia and hyperammonemia ORPHA:137908
- Pontocerebellar hypoplasia type 6 ORPHA:166073
- Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ORPHA:168566
- Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ORPHA:217371
- Severe X-linked mitochondrial encephalomyopathy ORPHA:238329
- Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome ORPHA:254343
- Combined oxidative phosphorylation defect type 2 ORPHA:254920
- Combined oxidative phosphorylation defect type 4 ORPHA:254925
- Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ORPHA:314051
- Autosomal recessive spastic ataxia with leukoencephalopathy ORPHA:314603
- Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ORPHA:314637
- Combined oxidative phosphorylation defect type 8 ORPHA:319504
- Combined oxidative phosphorylation defect type 9 ORPHA:319509
- Combined oxidative phosphorylation defect type 13 ORPHA:319514
- Combined oxidative phosphorylation defect type 14 ORPHA:319519
- Combined oxidative phosphorylation defect type 15 ORPHA:319524
- Combined oxidative phosphorylation defect type 11 ORPHA:324535
- Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency ORPHA:352563
- Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ORPHA:363694
- Combined oxidative phosphorylation defect type 17 ORPHA:369913
- Combined oxidative phosphorylation defect type 20 ORPHA:420728
- Combined oxidative phosphorylation defect type 21 ORPHA:420733
- Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome ORPHA:436174
- Combined oxidative phosphorylation defect type 23 ORPHA:444013
- Combined oxidative phosphorylation defect type 24 ORPHA:444458
- Combined oxidative phosphorylation defect type 25 ORPHA:447954
- Combined oxidative phosphorylation defect type 39 ORPHA:565624
- Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome ORPHA:528091
- Syndromic sensorineural deafness due to combined oxidative phosphorylation defect ORPHA:457223
- Combined oxidative phosphorylation defect type 30 ORPHA:478042
- Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect ORPHA:466784
- Combined oxidative phosphorylation defect type 27 ORPHA:477774
- C12ORF65-related combined oxidative phosphorylation defect ORPHA:497623
- Combined oxidative phosphorylation defect type 7 ORPHA:254930
- Autosomal recessive spastic paraplegia type 55 ORPHA:320375
- Combined oxidative phosphorylation defect type 26 ORPHA:477684
- Autosomal recessive spastic paraplegia type 77 ORPHA:466722
- Combined oxidative phosphorylation defect type 29 ORPHA:478029
- QRSL1-related combined oxidative phosphorylation defect ORPHA:570491
- WARS2-related combined oxidative phosphorylation defect ORPHA:572798
- Pancreatic insufficiency-anemia-hyperostosis syndrome ORPHA:199337
- Mitochondrial oxidative phosphorylation disorder with no known mechanism ORPHA:254822
- Zellweger-like syndrome without peroxisomal anomalies ORPHA:50812
- Autosomal dominant optic atrophy and cataract ORPHA:67036
- Autosomal dominant optic atrophy, classic form ORPHA:98673
- FASTKD2-related infantile mitochondrial encephalomyopathy ORPHA:166105
- Autosomal recessive optic atrophy, OPA7 type ORPHA:227976
- Autosomal dominant optic atrophy and peripheral neuropathy ORPHA:250932
- Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome ORPHA:391348
- Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy ORPHA:436271
- Autosomal dominant mitochondrial myopathy with exercise intolerance ORPHA:457050
- Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes ORPHA:309136
- Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome ORPHA:543470
- TMEM70-related mitochondrial encephalo-cardio-myopathy ORPHA:1194
- Björnstad syndrome ORPHA:123
- GRACILE syndrome ORPHA:53693
- Exercise intolerance with lactic acidosis ORPHA:254843
- Hereditary myopathy with lactic acidosis due to ISCU deficiency ORPHA:43115
- Acyl-CoA dehydrogenase 9 deficiency ORPHA:99901
- Renal tubulopathy-encephalopathy-liver failure syndrome ORPHA:254902
- Multiple mitochondrial dysfunctions syndrome ORPHA:289573
- Multiple mitochondrial dysfunctions syndrome type 6 ORPHA:569290
- Multiple mitochondrial dysfunctions syndrome type 3 ORPHA:363424
- Multiple mitochondrial dysfunctions syndrome type 1 ORPHA:401869
- Multiple mitochondrial dysfunctions syndrome type 2 ORPHA:401874
- Multiple mitochondrial dysfunctions syndrome type 4 ORPHA:457406
- Multiple mitochondrial dysfunctions syndrome type 5 ORPHA:569274
- MEGDEL syndrome ORPHA:352328
- Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency ORPHA:397593
- Auditory neuropathy-optic atrophy syndrome ORPHA:542585
- Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome ORPHA:330054
- Mitochondrial DNA maintenance syndrome ORPHA:352456
- Mitochondrial neurogastrointestinal encephalomyopathy ORPHA:298
- Mitochondrial DNA depletion syndrome ORPHA:35698
- Mitochondrial DNA depletion syndrome, encephalomyopathic form ORPHA:254803
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ORPHA:1933
- Fatal infantile lactic acidosis with methylmalonic aciduria ORPHA:17
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy ORPHA:255235
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies ORPHA:369897
- Mitochondrial DNA depletion syndrome, hepatocerebral form ORPHA:254871
- Infantile-onset spinocerebellar ataxia ORPHA:1186
- Alpers-Huttenlocher syndrome ORPHA:726
- Navajo neurohepatopathy ORPHA:255229
- Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency ORPHA:279934
- Mitochondrial DNA depletion syndrome, hepatocerebrorenal form ORPHA:363534
- Mitochondrial DNA depletion syndrome, myopathic form ORPHA:254875
- Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome ORPHA:313772
- Multiple mitochondrial DNA deletion syndrome ORPHA:254807
- Autosomal dominant optic atrophy plus syndrome ORPHA:1215
- Ataxia neuropathy spectrum ORPHA:254818
- Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome ORPHA:70595
- Recessive mitochondrial ataxia syndrome ORPHA:94125
- Spinocerebellar ataxia with epilepsy ORPHA:254881
- Autosomal recessive progressive external ophthalmoplegia ORPHA:254886
- Autosomal dominant progressive external ophthalmoplegia ORPHA:254892
- Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency ORPHA:329314
- DNA2-related mitochondrial DNA deletion syndrome ORPHA:352470
- Progressive external ophthalmoplegia-myopathy-emaciation syndrome ORPHA:352447
- SURF1-related Charcot-Marie-Tooth disease type 4 ORPHA:391351
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type D ORPHA:435998
- Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome ORPHA:478049
- Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ORPHA:70472
- Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies ORPHA:254758
- Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA ORPHA:254767
- Kearns-Sayre syndrome ORPHA:480
- Pearson syndrome ORPHA:699
- Mitochondrial DNA-related progressive external ophthalmoplegia ORPHA:663
- Chronic diarrhea with villous atrophy ORPHA:1670
- Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy ORPHA:329336
- Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA ORPHA:254776
- MELAS ORPHA:550
- MERRF ORPHA:551
- Leber hereditary optic neuropathy ORPHA:104
- NARP syndrome ORPHA:644
- Rare mitochondrial non-syndromic sensorineural deafness ORPHA:90641
- Leber plus disease ORPHA:99718
- Mitochondrial DNA-related mitochondrial myopathy ORPHA:254788
- Myopathy and diabetes mellitus ORPHA:2596
- Pure mitochondrial myopathy ORPHA:254854
- Lethal infantile mitochondrial myopathy ORPHA:254857
- Mitochondrial myopathy with reversible cytochrome C oxidase deficiency ORPHA:254864
- Mitochondrial DNA-related dystonia ORPHA:254851
- Mitochondrial DNA-associated Leigh syndrome ORPHA:255210
- Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation ORPHA:324525
- Periodic paralysis with later-onset distal motor neuropathy ORPHA:397750
- Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation ORPHA:620371
- Mitochondrial DNA-related cardiomyopathy and hearing loss ORPHA:1349
- Isolated oxidative phosphorylation complex disorder ORPHA:254846
- Mitochondrial membrane transport disorder ORPHA:254827
- Mitochondrial substrate carrier disorder ORPHA:254830
- Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome ORPHA:1369
- Cardiomyopathy-hypotonia-lactic acidosis syndrome ORPHA:91130
- Adult-onset autosomal recessive sideroblastic anemia ORPHA:255132
- Epileptic encephalopathy with global cerebral demyelination ORPHA:353217
- Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect ORPHA:466784
- Mitochondrial protein import disorder ORPHA:254834
- Unspecified mitochondrial disorder ORPHA:254837
- Ocular anomalies-axonal neuropathy-developmental delay syndrome ORPHA:496790
- Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome ORPHA:502423
- 1p36.33 duplication syndrome ORPHA:656279
- X-linked sideroblastic anemia and spinocerebellar ataxia ORPHA:2802
- Ethylmalonic encephalopathy ORPHA:51188
- Autosomal dominant optic atrophy ORPHA:98672
- Autosomal dominant optic atrophy plus syndrome ORPHA:1215
- Autosomal dominant optic atrophy and cataract ORPHA:67036
- Autosomal dominant optic atrophy, classic form ORPHA:98673
- Autosomal dominant optic atrophy and peripheral neuropathy ORPHA:250932
- Histiocytoid cardiomyopathy ORPHA:137675
- Mitochondrial myopathy-lactic acidosis-deafness syndrome ORPHA:2597
- Lipoic acid biosynthesis defect ORPHA:401854
- Pyruvate dehydrogenase E3 deficiency ORPHA:2394
- Multiple mitochondrial dysfunctions syndrome ORPHA:289573
- Multiple mitochondrial dysfunctions syndrome type 6 ORPHA:569290
- Multiple mitochondrial dysfunctions syndrome type 3 ORPHA:363424
- Multiple mitochondrial dysfunctions syndrome type 1 ORPHA:401869
- Multiple mitochondrial dysfunctions syndrome type 2 ORPHA:401874
- Multiple mitochondrial dysfunctions syndrome type 4 ORPHA:457406
- Multiple mitochondrial dysfunctions syndrome type 5 ORPHA:569274
- Lipoic acid synthetase deficiency ORPHA:401859
- Lipoyl transferase 1 deficiency ORPHA:401862
- Childhood-onset spasticity with hyperglycinemia ORPHA:401866
- Lipoyl transferase 2 deficiency ORPHA:447795
- MEPAN syndrome ORPHA:508093
- Creatine deficiency syndrome ORPHA:79172
- Guanidinoacetate methyltransferase deficiency ORPHA:382
- L-Arginine:glycine amidinotransferase deficiency ORPHA:35704
- X-linked creatine transporter deficiency ORPHA:52503
- Disorder of fatty acid oxidation and ketone body metabolism ORPHA:79174
- Disorder of ketolysis ORPHA:79183
- Disorder of fatty acid oxidation and ketogenesis ORPHA:309115
- Mitochondrial trifunctional protein deficiency ORPHA:746
- 3-hydroxy-3-methylglutaric aciduria ORPHA:20
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ORPHA:35701
- Acyl-CoA dehydrogenase deficiency ORPHA:309120
- Medium chain acyl-CoA dehydrogenase deficiency ORPHA:42
- Multiple acyl-CoA dehydrogenase deficiency ORPHA:26791
- Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type ORPHA:394529
- Multiple acyl-CoA dehydrogenase deficiency, mild type ORPHA:394532
- Short chain acyl-CoA dehydrogenase deficiency ORPHA:26792
- Very long chain acyl-CoA dehydrogenase deficiency ORPHA:26793
- Transient neonatal multiple acyl-CoA dehydrogenase deficiency ORPHA:329942
- 3-hydroxyacyl-CoA dehydrogenase deficiency ORPHA:309127
- Disorder of carnitine cycle and carnitine transport ORPHA:309130
- Carnitine palmitoyltransferase II deficiency ORPHA:157
- Carnitine palmitoyl transferase II deficiency, myopathic form ORPHA:228302
- Carnitine palmitoyl transferase II deficiency, severe infantile form ORPHA:228305
- Carnitine palmitoyl transferase II deficiency, neonatal form ORPHA:228308
- Carnitine palmitoyl transferase 1A deficiency ORPHA:156
- Systemic primary carnitine deficiency ORPHA:158
- Carnitine-acylcarnitine translocase deficiency ORPHA:159
- Metabolic disease due to other fatty acid oxidation disorder ORPHA:309133
- Disorder of keton body transport ORPHA:438072
- Pyruvate metabolism disorder ORPHA:254746
- Pyruvate dehydrogenase deficiency ORPHA:765
- Pyruvate dehydrogenase E3 deficiency ORPHA:2394
- Pyruvate dehydrogenase E1-alpha deficiency ORPHA:79243
- Pyruvate dehydrogenase E2 deficiency ORPHA:79244
- Pyruvate dehydrogenase phosphatase deficiency ORPHA:79246
- Pyruvate dehydrogenase E1-beta deficiency ORPHA:255138
- Pyruvate dehydrogenase E3-binding protein deficiency ORPHA:255182
- Hemolytic anemia due to red cell pyruvate kinase deficiency ORPHA:766
- Mitochondrial pyruvate carrier deficiency ORPHA:447784
- Tricarboxylic acid cycle disorder ORPHA:254749
- Disorder of biogenic amine metabolism and transport ORPHA:79214
- Disorder of neurotransmitter metabolism and transport ORPHA:79169
- Monoamine oxidase A deficiency ORPHA:3057
- Disorder of pterin metabolism ORPHA:309819
- Dopa-responsive dystonia ORPHA:255
- Autosomal recessive dopa-responsive dystonia ORPHA:101150
- Dopa-responsive dystonia due to sepiapterin reductase deficiency ORPHA:70594
- Autosomal dominant dopa-responsive dystonia ORPHA:98808
- Hyperphenylalaninemia due to tetrahydrobiopterin deficiency ORPHA:238583
- Dihydropteridine reductase deficiency ORPHA:226
- 6-pyruvoyl-tetrahydropterin synthase deficiency ORPHA:13
- GTP cyclohydrolase I deficiency ORPHA:2102
- Pterin-4 alpha-carbinolamine dehydratase deficiency ORPHA:1578
- Hyperphenylalaninemia due to DNAJC12 deficiency ORPHA:508523
- Disorder of catecholamine synthesis ORPHA:309830
- Dopamine beta-hydroxylase deficiency ORPHA:230
- Aromatic L-amino acid decarboxylase deficiency ORPHA:35708
- Brain dopamine-serotonin vesicular transport disease ORPHA:352649
- Disorder of gamma-aminobutyric acid metabolism ORPHA:79175
- Succinic semialdehyde dehydrogenase deficiency ORPHA:22
- Gamma-aminobutyric acid transaminase deficiency ORPHA:2066
- Disorder of pyridoxine metabolism ORPHA:79192
- Pyridoxine-dependent-developmental and epileptic encephalopathy ORPHA:3006
- Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy ORPHA:79096
- Metabolic disease involving other neurotransmitter deficiency ORPHA:79219
- Disorder of purine or pyrimidine metabolism ORPHA:79224
- Disorder of purine metabolism ORPHA:79191
- Diamond-Blackfan anemia ORPHA:124
- Adenosine monophosphate deaminase deficiency ORPHA:45
- Purine nucleoside phosphorylase deficiency ORPHA:760
- Hereditary xanthinuria ORPHA:3467
- Adenylosuccinate lyase deficiency ORPHA:46
- Adenine phosphoribosyltransferase deficiency ORPHA:976
- Lethal ataxia with deafness and optic atrophy ORPHA:1187
- Phosphoribosylpyrophosphate synthetase superactivity ORPHA:3222
- Mild phosphoribosylpyrophosphate synthetase superactivity ORPHA:411536
- Severe phosphoribosylpyrophosphate synthetase superactivity ORPHA:411543
- Severe combined immunodeficiency due to adenosine deaminase deficiency ORPHA:277
- X-linked Charcot-Marie-Tooth disease type 5 ORPHA:99014
- Hemolytic anemia due to erythrocyte adenosine deaminase overproduction ORPHA:99138
- Hypoxanthine-guanine phosphoribosyltransferase deficiency ORPHA:206428
- Lesch-Nyhan syndrome ORPHA:510
- Hypoxanthine guanine phosphoribosyltransferase partial deficiency ORPHA:79233
- AICA-ribosiduria ORPHA:250977
- Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency ORPHA:279934
- X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency ORPHA:423479
- ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement ORPHA:457375
- PAICS deficiency ORPHA:633099
- Disorder of pyrimidine metabolism ORPHA:79193
- Hereditary orotic aciduria ORPHA:30
- Dihydropyrimidine dehydrogenase deficiency ORPHA:1675
- Mitochondrial neurogastrointestinal encephalomyopathy ORPHA:298
- Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency ORPHA:35120
- Dihydropyrimidinuria ORPHA:38874
- Beta-ureidopropionase deficiency ORPHA:65287
- Mitochondrial DNA depletion syndrome, myopathic form ORPHA:254875
- Hyper-beta-alaninemia ORPHA:309147
- CAD-CDG ORPHA:448010
- Other metabolic disease ORPHA:91088
- Congenital isolated hyperinsulinism ORPHA:657
- Diazoxide-sensitive diffuse hyperinsulinism ORPHA:165985
- Hyperinsulinism-hyperammonemia syndrome ORPHA:35878
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency ORPHA:71212
- Congenital glucokinase-related hyperinsulinism ORPHA:79299
- Exercise-induced hyperinsulinism ORPHA:165991
- Congenital hyperinsulinism due to HNF4A deficiency ORPHA:263455
- Hyperinsulinism due to UCP2 deficiency ORPHA:276556
- Autosomal dominant hyperinsulinism due to SUR1 deficiency ORPHA:276575
- Autosomal dominant hyperinsulinism due to Kir6.2 deficiency ORPHA:276580
- Hyperinsulinism due to HNF1A deficiency ORPHA:324575
- Diazoxide-resistant hyperinsulinism ORPHA:276585
- Alpha-1-antitrypsin deficiency ORPHA:60
- Hemolytic anemia due to diphosphoglycerate mutase deficiency ORPHA:714
- Brachytelephalangic chondrodysplasia punctata ORPHA:79345
- Hypotonia-failure to thrive-microcephaly syndrome ORPHA:79507
- Genetic recurrent myoglobinuria ORPHA:99845
- Autosomal dominant myoglobinuria ORPHA:99846
- Alacrimia-choreoathetosis-liver dysfunction syndrome ORPHA:404454
- NAD(P)HX dehydratase deficiency ORPHA:555402
- NAD(P)HX epimerase deficiency ORPHA:555407
- Disorder of lipid metabolism ORPHA:309005
- Sterol metabolism disorder ORPHA:79226
- Disorder of bile acid synthesis ORPHA:79168
- Idiopathic malabsorption due to bile acid synthesis defects ORPHA:84065
- Bile acid synthesis defect with cholestasis and malabsorption ORPHA:163631
- Congenital bile acid synthesis defect ORPHA:485631
- Congenital bile acid synthesis defect type 4 ORPHA:79095
- Congenital bile acid synthesis defect type 1 ORPHA:79301
- Congenital bile acid synthesis defect type 3 ORPHA:79302
- Congenital bile acid synthesis defect type 2 ORPHA:79303
- Cerebrotendinous xanthomatosis ORPHA:909
- Familial hypercholanemia ORPHA:238475
- Bile acid CoA ligase deficiency and defective amidation ORPHA:276066
- Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency ORPHA:209902
- Sterol biosynthesis disorder ORPHA:79195
- Microcephaly-congenital cataract-psoriasiform dermatitis syndrome ORPHA:488168
- Greenberg dysplasia ORPHA:1426
- CHILD syndrome ORPHA:139
- Smith-Lemli-Opitz syndrome ORPHA:818
- Desmosterolosis ORPHA:35107
- X-linked dominant chondrodysplasia punctata ORPHA:35173
- Lathosterolosis ORPHA:46059
- Mevalonate kinase deficiency ORPHA:309025
- MEND syndrome ORPHA:401973
- CK syndrome ORPHA:251383
- Rare dyslipidemia ORPHA:101953
- Rare hyperlipidemia ORPHA:181422
- Dysbetalipoproteinemia ORPHA:412
- Familial Hyperalphalipoproteinemia ORPHA:181428
- Familial chylomicronemia syndrome ORPHA:444490
- Familial lipoprotein lipase deficiency ORPHA:309015
- Familial apolipoprotein C-II deficiency ORPHA:309020
- Familial lipase maturation factor 1 deficiency ORPHA:535453
- Familial GPIHBP1 deficiency ORPHA:535458
- Familial apolipoprotein A5 deficiency ORPHA:530849
- Hyperlipidemia due to hepatic triacylglycerol lipase deficiency ORPHA:140905
- Rare hypercholesterolemia ORPHA:477811
- Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency ORPHA:209902
- Homozygous familial hypercholesterolemia ORPHA:391665
- TMEM199-CDG ORPHA:466703
- CCDC115-CDG ORPHA:468684
- Chronic visceral acid sphingomyelinase deficiency ORPHA:77293
- Chronic neurovisceral acid sphingomyelinase deficiency ORPHA:618891
- Rare hypolipidemia ORPHA:181431
- Hypoalphalipoproteinemia ORPHA:31153
- Hypobetalipoproteinemia ORPHA:31154
- Rare syndromic dyslipidemia ORPHA:181437
- Disorder of lipid absorption and transport ORPHA:309028
- Pancreatic triacylglycerol lipase deficiency ORPHA:309031
- Pancreatic colipase deficiency ORPHA:309108
- Combined pancreatic lipase-colipase deficiency ORPHA:309111
- Disorder of phospholipids, sphingolipids and fatty acids biosynthesis ORPHA:352301
- Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement ORPHA:352306
- Spastic paraparesis-cataracts-speech delay syndrome ORPHA:615938
- Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction ORPHA:506353
- Sjögren-Larsson syndrome ORPHA:816
- Autosomal recessive spastic paraplegia type 39 ORPHA:139480
- Pantothenate kinase-associated neurodegeneration ORPHA:157850
- Classic pantothenate kinase-associated neurodegeneration ORPHA:216866
- Atypical pantothenate kinase-associated neurodegeneration ORPHA:216873
- PLA2G6-associated neurodegeneration ORPHA:329303
- Fatty acid hydroxylase-associated neurodegeneration ORPHA:329308
- MEGDEL syndrome ORPHA:352328
- Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome ORPHA:352333
- GM3 synthase deficiency ORPHA:370933
- Spinocerebellar ataxia type 38 ORPHA:423296
- Progressive myoclonic epilepsy type 8 ORPHA:424027
- Progressive encephalopathy with leukodystrophy due to DECR deficiency ORPHA:431361
- Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement ORPHA:352309
- Hereditary sensory and autonomic neuropathy type 1 ORPHA:36386
- Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome ORPHA:171848
- Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement ORPHA:352312
- Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome ORPHA:1369
- Barth syndrome ORPHA:111
- Neutral lipid storage disease ORPHA:165
- Neutral lipid storage disease with ichthyosis ORPHA:98907
- Neutral lipid storage disease with myopathy ORPHA:98908
- Triglyceride deposit cardiomyovasculopathy ORPHA:692305
- Genetic recurrent myoglobinuria ORPHA:99845
- Megaconial congenital muscular dystrophy ORPHA:280671
- Familial steroid-resistant nephrotic syndrome with adrenal insufficiency ORPHA:506334
- Disorder of lysosomal-related organelles ORPHA:309340
- Chédiak-Higashi syndrome ORPHA:167
- Haim-Munk syndrome ORPHA:2342
- Papillon-Lefèvre syndrome ORPHA:678
- Hermansky-Pudlak syndrome ORPHA:79430
- Hermansky-Pudlak syndrome due to AP-3 deficiency ORPHA:183678
- Hermansky-Pudlak syndrome due to AP3B1 deficiency ORPHA:664500
- Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency ORPHA:664511
- Hermansky-Pudlak syndrome due to BLOC-3 deficiency ORPHA:231500
- Hermansky-Pudlak syndrome due to BLOC-2 deficiency ORPHA:231512
- Hermansky-Pudlak syndrome due to BLOC-1 deficiency ORPHA:231531
- Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN ORPHA:675782
- Disorder of porphyrin and heme metabolism ORPHA:309813
- Porphyria ORPHA:738
- Erythropoietic porphyria ORPHA:659681
- Congenital erythropoietic porphyria ORPHA:79277
- Autosomal erythropoietic protoporphyria ORPHA:79278
- X-linked erythropoietic protoporphyria ORPHA:443197
- Erythropoietic uroporphyria associated with myeloid malignancy ORPHA:280379
- Hepatoerythropoietic porphyria ORPHA:95159
- Harderoporphyria ORPHA:659672
- Hepatic porphyria ORPHA:659694
- X-linked sideroblastic anemia ORPHA:75563
- Disorder of bilirubin metabolism and excretion ORPHA:309816
- Crigler-Najjar syndrome ORPHA:205
- Dubin-Johnson syndrome ORPHA:234
- Rotor syndrome ORPHA:3111
- Progressive familial intrahepatic cholestasis ORPHA:172
- Progressive familial intrahepatic cholestasis type 2 ORPHA:79304
- Progressive familial intrahepatic cholestasis type 3 ORPHA:79305
- Progressive familial intrahepatic cholestasis type 1 ORPHA:79306
- Progressive familial intrahepatic cholestasis type 4 ORPHA:480483
- MYO5B-related progressive familial intrahepatic cholestasis ORPHA:480491
- Progressive familial intrahepatic cholestasis type 5 ORPHA:480476
- Hereditary North American Indian childhood cirrhosis ORPHA:168583
- Arthrogryposis-renal dysfunction-cholestasis syndrome ORPHA:2697
- Benign recurrent intrahepatic cholestasis ORPHA:65682
- Benign recurrent intrahepatic cholestasis type 1 ORPHA:99960
- Benign recurrent intrahepatic cholestasis type 2 ORPHA:99961
- Bilirubin encephalopathy ORPHA:415286
- Heme oxygenase-1 deficiency ORPHA:562509
- Disorder of metabolite absorption and transport ORPHA:309824
- Disorder of vitamin and non-protein cofactor absorption and transport ORPHA:309827
- Disorder of cobalamin metabolism and transport ORPHA:79171
- Methylmalonic acidemia with homocystinuria ORPHA:26
- Methylmalonic acidemia with homocystinuria, type cblC ORPHA:79282
- Methylmalonic acidemia with homocystinuria, type cblD ORPHA:79283
- Methylmalonic acidemia with homocystinuria type cblF ORPHA:79284
- Methylmalonic acidemia with homocystinuria, type cblJ ORPHA:369955
- Methylmalonic acidemia with homocystinuria, type cblX ORPHA:369962
- Transcobalamin deficiency ORPHA:859
- Vitamin B12-responsive methylmalonic acidemia ORPHA:28
- Vitamin B12-responsive methylmalonic acidemia type cblA ORPHA:79310
- Vitamin B12-responsive methylmalonic acidemia type cblB ORPHA:79311
- Vitamin B12-responsive methylmalonic acidemia, type cblDv2 ORPHA:308442
- Transcobalamin I deficiency ORPHA:2967
- Congenital intrinsic factor deficiency ORPHA:332
- Homocystinuria without methylmalonic aciduria ORPHA:622
- Methylcobalamin deficiency type cblE ORPHA:2169
- Methylcobalamin deficiency type cblG ORPHA:2170
- Methylcobalamin deficiency type cblDv1 ORPHA:308380
- Imerslund-Gräsbeck syndrome ORPHA:35858
- Methylmalonic aciduria due to transcobalamin receptor defect ORPHA:280183
- Disorder of folate metabolism and transport ORPHA:285657
- MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome ORPHA:597874
- Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency ORPHA:658813
- Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency ORPHA:661412
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency ORPHA:395
- Formiminoglutamic aciduria ORPHA:51208
- Hereditary folate malabsorption ORPHA:90045
- Neurodegenerative syndrome due to cerebral folate transport deficiency ORPHA:217382
- Constitutional megaloblastic anemia with severe neurologic disease ORPHA:319651
- Disorder of thiamine metabolism and transport ORPHA:298644
- Progressive polyneuropathy with bilateral striatal necrosis ORPHA:217396
- Thiamine-responsive megaloblastic anemia syndrome ORPHA:49827
- Biotin-thiamine-responsive basal ganglia disease ORPHA:65284
- Thiamine-responsive encephalopathy ORPHA:199348
- Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome ORPHA:263410
- Childhood encephalopathy due to thiamine pyrophosphokinase deficiency ORPHA:293955
- Amish lethal microcephaly ORPHA:99742
- Disorder of other vitamins and cofactors metabolism and transport ORPHA:309833
- Ataxia with vitamin E deficiency ORPHA:96
- Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy ORPHA:79096
- Biotinidase deficiency ORPHA:79241
- Hereditary combined deficiency of vitamin K-dependent clotting factors ORPHA:98434
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency ORPHA:99732
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A ORPHA:308386
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B ORPHA:308393
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ORPHA:308400
- Pantothenate kinase-associated neurodegeneration ORPHA:157850
- Classic pantothenate kinase-associated neurodegeneration ORPHA:216866
- Atypical pantothenate kinase-associated neurodegeneration ORPHA:216873
- Hereditary hypercarotenemia and vitamin A deficiency ORPHA:199285
- Progressive retinal dystrophy due to retinol transport defect ORPHA:352718
- Maternal riboflavin deficiency ORPHA:411712
- Disorder of mineral absorption and transport ORPHA:309836
- Disorder of copper metabolism ORPHA:309839
- Wilson disease ORPHA:905
- Menkes disease ORPHA:565
- Familial benign copper deficiency ORPHA:1551
- Occipital horn syndrome ORPHA:198
- MEDNIK syndrome ORPHA:171851
- X-linked distal spinal muscular atrophy type 3 ORPHA:139557
- Congenital cataract-hearing loss-severe developmental delay syndrome ORPHA:300313
- Aceruloplasminemia ORPHA:48818
- Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect ORPHA:521411
- Disorder of iron metabolism and transport ORPHA:309842
- Neonatal hemochromatosis ORPHA:446
- Congenital atransferrinemia ORPHA:1195
- Aceruloplasminemia ORPHA:48818
- Microcytic anemia with liver iron overload ORPHA:83642
- Dietary iron overload disease ORPHA:139507
- Neuroferritinopathy ORPHA:157846
- Rare hereditary hemochromatosis ORPHA:220489
- Symptomatic form of HFE-related hemochromatosis ORPHA:465508
- Non-HFE-related hemochromatosis ORPHA:648569
- TFR2-related hemochromatosis ORPHA:225123
- SLC40A1-related hemochromatosis ORPHA:647834
- HJV or HAMP-related hemochromatosis ORPHA:79230
- Digenic hemochromatosis ORPHA:648581
- FTH1-related iron overload ORPHA:247790
- L-ferritin deficiency ORPHA:440731
- Hereditary hyperferritinemia-cataract syndrome ORPHA:163
- Ferroportin disease ORPHA:648562
- Disorder of zinc metabolism and transport ORPHA:309845
- Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome ORPHA:505242
- Acrodermatitis enteropathica ORPHA:37
- Hyperzincemia and hypercalprotectinemia ORPHA:251523
- Disorder of magnesium transport ORPHA:309848
- Primary hypomagnesemia with secondary hypocalcemia ORPHA:30924
- Autosomal dominant primary hypomagnesemia with hypocalciuria ORPHA:34528
- Isolated autosomal dominant hypomagnesemia, Glaudemans type ORPHA:199326
- Primary hypomagnesemia-refractory seizures-intellectual disability syndrome ORPHA:564178
- Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome ORPHA:620363
- EGF-related primary hypomagnesemia with intellectual disability ORPHA:620368
- Primary hypomagnesemia with hypercalciuria and nephrocalcinosis ORPHA:306516
- Disorder of manganese transport ORPHA:309851