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CC-BY-4.0
https://creativecommons.org/licenses/by/4.0/legalcode
156449
Orphanet classification of rare inborn errors of metabolism
68367
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68367
Rare inborn errors of metabolism
Category
137
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137
Congenital disorder of glycosylation
Category
309347
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309347
Disorder of protein N-glycosylation
Category
79318
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79318
PMM2-CDG
Disease
79319
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79319
MPI-CDG
Disease
79320
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79320
ALG6-CDG
Disease
79321
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79321
ALG3-CDG
Disease
79324
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79324
ALG12-CDG
Disease
79325
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79325
ALG8-CDG
Disease
79326
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79326
ALG2-CDG
Disease
79327
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79327
ALG1-CDG
Disease
79328
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79328
ALG9-CDG
Disease
79329
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79329
MGAT2-CDG
Disease
79330
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79330
MOGS-CDG
Disease
86309
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86309
DPAGT1-CDG
Disease
244310
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244310
RFT1-CDG
Disease
280071
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280071
ALG11-CDG
Disease
300536
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300536
DDOST-CDG
Disease
314667
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314667
TMEM165-CDG
Disease
319646
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319646
PGM1-CDG
Disease
324422
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324422
ALG13-CDG
Disease
353327
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353327
Congenital myasthenic syndromes with glycosylation defect
Etiological subtype
370921
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370921
STT3A-CDG
Disease
370924
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370924
STT3B-CDG
Disease
370927
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370927
SSR4-CDG
Disease
370943
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370943
Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Disease
397941
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397941
MAN1B1-CDG
Disease
468699
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468699
SLC39A8-CDG
Disease
309447
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309447
Disorder of protein O-glycosylation
Category
309450
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309450
Disorder of O-xylosylglycan synthesis
Category
466926
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466926
Seizures-scoliosis-macrocephaly syndrome
Disease
480682
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480682
POGLUT1-related limb-girdle muscular dystrophy R21
Disease
321
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=321
Multiple osteochondromas
Disease
2953
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2953
Musculocontractural Ehlers-Danlos syndrome
Disease
75496
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75496
B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
Clinical subtype
263463
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263463
CHST3-related skeletal dysplasia
Disease
284139
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284139
Larsen-like syndrome, B3GAT3 type
Malformation syndrome
363417
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363417
Temtamy preaxial brachydactyly syndrome
Malformation syndrome
370930
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370930
XYLT1-CDG
Disease
536467
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536467
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
Clinical subtype
309458
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309458
Disorder of O-N-acetylgalactosaminylglycan synthesis
Category
306661
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306661
Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
Clinical subtype
309463
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309463
Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis
Category
3144
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3144
Schneckenbecken dysplasia
Malformation syndrome
309469
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309469
Disorder of O-mannosylglycan synthesis
Category
272
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=272
Congenital muscular dystrophy, Fukuyama type
Malformation syndrome
899
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=899
Walker-Warburg syndrome
Disease
588
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588
Muscle-eye-brain disease
Malformation syndrome
34515
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34515
FKRP-related limb-girdle muscular dystrophy R9
Disease
86812
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86812
POMT1-related limb-girdle muscular dystrophy R11
Disease
206554
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206554
Fukutin-related limb-girdle muscular dystrophy R13
Disease
206559
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206559
POMT2-related limb-girdle muscular dystrophy R14
Disease
206564
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206564
POMGNT1-related limb-girdle muscular dystrophy R15
Disease
352479
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352479
ISPD-related limb-girdle muscular dystrophy R20
Disease
363623
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363623
GMPPB-related limb-girdle muscular dystrophy R19
Disease
370959
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370959
Congenital muscular dystrophy with cerebellar involvement
Disease
370968
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370968
Congenital muscular dystrophy with intellectual disability
Disease
370980
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370980
Congenital muscular dystrophy without intellectual disability
Disease
445110
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445110
Limb-girdle muscular dystrophy due to POMK deficiency
Disease
309505
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309505
Disorder of fucoglycosan synthesis
Category
709
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=709
Peters plus syndrome
Malformation syndrome
2311
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2311
Autosomal recessive spondylocostal dysostosis
Malformation syndrome
79145
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79145
Dowling-Degos disease
Disease
309515
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309515
Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
Category
401820
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401820
Autosomal recessive spastic paraplegia type 67
Disease
300496
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300496
Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Malformation syndrome
370933
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370933
GM3 synthase deficiency
Disease
397922
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397922
Ferro-cerebro-cutaneous syndrome
Disease
447
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447
Paroxysmal nocturnal hemoglobinuria
Disease
3474
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3474
CHIME syndrome
Malformation syndrome
83639
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83639
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Disease
247262
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247262
Hyperphosphatasia-intellectual disability syndrome
Disease
280633
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280633
Multiple congenital anomalies-hypotonia-seizures syndrome
Malformation syndrome
488635
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488635
Early-onset epilepsy-intellectual disability-brain anomalies syndrome
Disease
369837
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369837
Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
Malformation syndrome
309526
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309526
Disorder of multiple glycosylation
Category
602
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=602
GNE myopathy
Disease
79322
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79322
DPM1-CDG
Disease
79323
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79323
MPDU1-CDG
Disease
79332
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79332
B4GALT1-CDG
Disease
91131
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91131
DK1-CDG
Disease
98873
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98873
Congenital dyserythropoietic anemia type II
Disease
99843
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99843
Leukocyte adhesion deficiency type II
Clinical subtype
238459
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238459
SLC35A1-CDG
Disease
263494
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263494
DPM3-CDG
Disease
309568
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309568
Defect in conserved oligomeric Golgi complex
Category
464443
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464443
COG6-CGD
Disease
79333
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79333
COG7-CDG
Disease
95428
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95428
COG8-CDG
Disease
263487
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263487
COG5-CDG
Disease
263501
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263501
COG4-CDG
Disease
263508
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263508
COG1-CDG
Disease
435934
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435934
COG2-CDG
Disease
309778
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309778
Defect in V-ATPase
Category
357058
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357058
Autosomal recessive cutis laxa type 2A
Disease
2834
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834
Wrinkly skin syndrome
Clinical subtype
357074
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357074
Autosomal recessive cutis laxa type 2, classic type
Clinical subtype
324737
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324737
SRD5A3-CDG
Disease
329178
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329178
Congenital muscular dystrophy with intellectual disability and severe epilepsy
Disease
356961
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356961
SLC35A2-CDG
Disease
443811
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443811
PGM3-CDG
Disease
448010
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448010
CAD-CDG
Disease
466703
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466703
TMEM199-CDG
Disease
468684
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468684
CCDC115-CDG
Disease
68366
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68366
Lysosomal disease
Category
306511
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306511
Autosomal recessive spastic paraplegia type 48
Disease
763
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=763
Pycnodysostosis
Disease
216
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216
Neuronal ceroid lipofuscinosis
Clinical group
1947
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947
Progressive epilepsy-intellectual disability syndrome, Finnish type
Disease
79262
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79262
Adult neuronal ceroid lipofuscinosis
Disease
79263
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79263
Infantile neuronal ceroid lipofuscinosis
Disease
263516
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263516
Progressive myoclonic epilepsy type 3
Clinical subtype
79264
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79264
Juvenile neuronal ceroid lipofuscinosis
Disease
168486
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168486
Congenital neuronal ceroid lipofuscinosis
Disease
168491
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168491
Late infantile neuronal ceroid lipofuscinosis
Disease
314632
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314632
ATP13A2-related juvenile neuronal ceroid lipofuscinosis
Disease
35121
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35121
Lysosomal acid phosphatase deficiency
Disease
79207
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79207
Disorder of lysosomal amino acid transport
Category
213
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213
Cystinosis
Disease
411629
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411629
Infantile nephropathic cystinosis
Clinical subtype
411634
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411634
Juvenile nephropathic cystinosis
Clinical subtype
411641
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411641
Ocular cystinosis
Clinical subtype
834
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=834
Free sialic acid storage disease
Disease
309324
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309324
Free sialic acid storage disease, infantile form
Clinical subtype
309331
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309331
Intermediate severe Salla disease
Clinical subtype
309334
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309334
Salla disease
Clinical subtype
79213
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79213
Mucopolysaccharidosis
Category
583
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583
Mucopolysaccharidosis type 6
Disease
276212
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276212
Mucopolysaccharidosis type 6, rapidly progressing
Clinical subtype
276223
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276223
Mucopolysaccharidosis type 6, slowly progressing
Clinical subtype
584
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=584
Mucopolysaccharidosis type 7
Disease
580
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580
Mucopolysaccharidosis type 2
Disease
217085
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085
Mucopolysaccharidosis type 2, severe form
Clinical subtype
217093
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093
Mucopolysaccharidosis type 2, attenuated form
Clinical subtype
579
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=579
Mucopolysaccharidosis type 1
Disease
93473
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473
Hurler syndrome
Clinical subtype
93474
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93474
Scheie syndrome
Clinical subtype
93476
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93476
Hurler-Scheie syndrome
Clinical subtype
581
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581
Mucopolysaccharidosis type 3
Disease
79269
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79269
Sanfilippo syndrome type A
Etiological subtype
79270
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79270
Sanfilippo syndrome type B
Etiological subtype
79271
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79271
Sanfilippo syndrome type C
Etiological subtype
79272
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79272
Sanfilippo syndrome type D
Etiological subtype
582
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=582
Mucopolysaccharidosis type 4
Disease
309297
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309297
Mucopolysaccharidosis type 4A
Clinical subtype
309310
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309310
Mucopolysaccharidosis type 4B
Clinical subtype
67041
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67041
Hyaluronidase deficiency
Disease
79225
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79225
Sphingolipidosis
Category
585
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585
Multiple sulfatase deficiency
Disease
333
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=333
Farber disease
Disease
487
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487
Krabbe disease
Disease
206443
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206443
Late-infantile/juvenile Krabbe disease
Clinical subtype
206448
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206448
Adult Krabbe disease
Clinical subtype
206436
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206436
Infantile Krabbe disease
Clinical subtype
324
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324
Fabry disease
Disease
512
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512
Metachromatic leukodystrophy
Disease
309256
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309256
Metachromatic leukodystrophy, late infantile form
Clinical subtype
309263
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309263
Metachromatic leukodystrophy, juvenile form
Clinical subtype
309271
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309271
Metachromatic leukodystrophy, adult form
Clinical subtype
355
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=355
Gaucher disease
Disease
2072
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2072
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Clinical subtype
77259
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77259
Gaucher disease type 1
Clinical subtype
77260
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77260
Gaucher disease type 2
Clinical subtype
77261
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77261
Gaucher disease type 3
Clinical subtype
85212
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85212
Fetal Gaucher disease
Clinical subtype
309252
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309252
Atypical Gaucher disease due to saposin C deficiency
Clinical subtype
79204
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79204
Lipid storage disease
Category
646
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646
Niemann-Pick disease type C
Disease
216972
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216972
Niemann-Pick disease type C, severe perinatal form
Clinical subtype
216975
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216975
Niemann-Pick disease type C, severe early infantile neurologic onset
Clinical subtype
216978
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216978
Niemann-Pick disease type C, late infantile neurologic onset
Clinical subtype
216981
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216981
Niemann-Pick disease type C, juvenile neurologic onset
Clinical subtype
216986
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216986
Niemann-Pick disease type C, adult neurologic onset
Clinical subtype
275761
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275761
Lysosomal acid lipase deficiency
Disease
75233
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75233
Wolman disease
Clinical subtype
75234
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75234
Cholesteryl ester storage disease
Clinical subtype
139406
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139406
Encephalopathy due to prosaposin deficiency
Disease
309144
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309144
Gangliosidosis
Category
354
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=354
GM1 gangliosidosis
Disease
79255
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79255
GM1 gangliosidosis type 1
Clinical subtype
79256
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79256
GM1 gangliosidosis type 2
Clinical subtype
79257
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79257
GM1 gangliosidosis type 3
Clinical subtype
309152
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309152
GM2 gangliosidosis
Clinical group
796
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=796
Sandhoff disease
Disease
309155
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309155
Sandhoff disease, infantile form
Clinical subtype
309162
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309162
Sandhoff disease, juvenile form
Clinical subtype
309169
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309169
Sandhoff disease, adult form
Clinical subtype
845
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=845
Tay-Sachs disease
Disease
309178
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309178
Tay-Sachs disease, infantile form
Clinical subtype
309185
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309185
Tay-Sachs disease, juvenile form
Clinical subtype
309192
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309192
Tay-Sachs disease, adult form
Clinical subtype
309246
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309246
GM2 gangliosidosis, AB variant
Disease
352641
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352641
Autosomal recessive cerebellar ataxia with late-onset spasticity
Disease
618899
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618899
Acid sphingomyelinase deficiency
Clinical group
77292
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77292
Infantile neurovisceral acid sphingomyelinase deficiency
Disease
77293
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77293
Chronic visceral acid sphingomyelinase deficiency
Disease
618891
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618891
Chronic neurovisceral acid sphingomyelinase deficiency
Disease
309279
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309279
Glycoproteinosis
Category
79212
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79212
Mucolipidosis
Category
576
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576
Mucolipidosis type II
Disease
577
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=577
Mucolipidosis type III
Disease
423461
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423461
Mucolipidosis type III alpha/beta
Clinical subtype
423470
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423470
Mucolipidosis type III gamma
Clinical subtype
578
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=578
Mucolipidosis type IV
Disease
79215
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79215
Oligosaccharidosis
Category
61
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=61
Alpha-mannosidosis
Disease
309282
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309282
Alpha-mannosidosis, infantile form
Clinical subtype
309288
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309288
Alpha-mannosidosis, adult form
Clinical subtype
93
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93
Aspartylglucosaminuria
Disease
118
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=118
Beta-mannosidosis
Disease
349
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=349
Fucosidosis
Disease
351
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=351
Galactosialidosis
Disease
3137
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3137
Alpha-N-acetylgalactosaminidase deficiency
Disease
79279
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79279
Alpha-N-acetylgalactosaminidase deficiency type 1
Clinical subtype
79280
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79280
Alpha-N-acetylgalactosaminidase deficiency type 2
Clinical subtype
79281
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79281
Alpha-N-acetylgalactosaminidase deficiency type 3
Clinical subtype
309294
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309294
Sialidosis
Clinical group
812
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=812
Sialidosis type 1
Disease
87876
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87876
Sialidosis type 2
Disease
93399
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93399
Juvenile sialidosis type 2
Clinical subtype
93400
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93400
Congenital sialidosis type 2
Clinical subtype
309319
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309319
Disorder of sialic acid metabolism
Category
3166
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3166
Sialuria
Disease
309337
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309337
Lysosomal glycogen storage disease
Category
365
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=365
Glycogen storage disease due to acid maltase deficiency
Disease
308552
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308552
Glycogen storage disease due to acid maltase deficiency, infantile onset
Clinical subtype
420429
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420429
Glycogen storage disease due to acid maltase deficiency, late-onset
Clinical subtype
34587
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34587
Glycogen storage disease due to LAMP-2 deficiency
Disease
68373
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68373
Peroxisomal disease
Category
79189
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79189
Peroxisome biogenesis disorder
Clinical group
912
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912
Zellweger syndrome
Disease
44
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44
Neonatal adrenoleukodystrophy
Disease
772
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=772
Infantile Refsum disease
Disease
309810
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309810
Disorder of peroxisomal alpha-, beta- and omega-oxidation
Category
773
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773
Refsum disease
Disease
926
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=926
Acatalasemia
Disease
35706
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35706
Glutaric acidemia type 3
Disease
79095
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79095
Congenital bile acid synthesis defect type 4
Disease
79188
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79188
Peroxisomal beta-oxidation disorder
Category
2971
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2971
Peroxisomal acyl-CoA oxidase deficiency
Disease
43
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43
X-linked adrenoleukodystrophy
Disease
139396
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139396
X-linked cerebral adrenoleukodystrophy
Clinical subtype
139399
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139399
Adrenomyeloneuropathy
Clinical subtype
300
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300
Bifunctional enzyme deficiency
Disease
163684
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163684
Leukoencephalopathy-dystonia-motor neuropathy syndrome
Disease
93598
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93598
Primary hyperoxaluria type 1
Clinical subtype
369942
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369942
CADDS
Disease
3276
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3276
Disorder of plasmalogens biosynthesis
Category
177
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177
Rhizomelic chondrodysplasia punctata
Disease
309803
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309803
Rhizomelic chondrodysplasia punctata type 3
Etiological subtype
309789
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309789
Rhizomelic chondrodysplasia punctata type 1
Etiological subtype
309796
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309796
Rhizomelic chondrodysplasia punctata type 2
Etiological subtype
468717
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468717
Rhizomelic chondrodysplasia punctata type 5
Etiological subtype
438178
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438178
Fatty acyl-CoA reductase 1 deficiency
Disease
642954
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642954
Autosomal recessive ataxia due to PEX16 deficiency
Disease
642965
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642965
Autosomal recessive ataxia due to PEX2 deficiency
Disease
95433
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95433
Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
Disease
247815
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247815
Autosomal recessive ataxia due to PEX10 deficiency
Disease
79062
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79062
Disorder of amino acid and other organic acid metabolism
Category
468726
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468726
Severe primary trimethylaminuria
Disease
79166
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79166
Disorder of amino acid absorption and transport
Category
534
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=534
Oculocerebrorenal syndrome of Lowe
Malformation syndrome
214
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=214
Cystinuria
Disease
93612
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93612
Cystinuria type A
Etiological subtype
93613
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93613
Cystinuria type B
Etiological subtype
2195
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2195
Dicarboxylic aminoaciduria
Disease
470
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=470
Lysinuric protein intolerance
Disease
94086
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94086
Blue diaper syndrome
Disease
238517
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238517
Hypotonia-cystinuria type 1 syndrome
Clinical group
163690
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163690
Hypotonia-cystinuria syndrome
Disease
163693
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163693
2p21 microdeletion syndrome
Disease
238523
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238523
Atypical hypotonia-cystinuria syndrome
Disease
308451
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308451
Disorder of neutral amino acid transport
Category
2116
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2116
Hartnup disease
Disease
42062
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42062
Iminoglycinuria
Disease
363429
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363429
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
Disease
324262
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324262
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Clinical subtype
363432
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363432
Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
Clinical subtype
79167
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79167
Disorder of urea cycle metabolism and ammonia detoxification
Category
90
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90
Argininemia
Disease
23
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=23
Argininosuccinic aciduria
Disease
147
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=147
Carbamoyl-phosphate synthetase 1 deficiency
Disease
187
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=187
Citrullinemia
Category
247525
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247525
Citrullinemia type I
Disease
247546
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247546
Acute neonatal citrullinemia type I
Clinical subtype
247573
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247573
Late-onset citrullinemia type I
Clinical subtype
247582
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247582
Citrin deficiency
Category
247585
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247585
Citrullinemia type II
Disease
247598
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247598
Neonatal intrahepatic cholestasis due to citrin deficiency
Disease
415
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=415
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Disease
927
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=927
Hyperammonemia due to N-acetylglutamate synthase deficiency
Disease
35878
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35878
Hyperinsulinism-hyperammonemia syndrome
Disease
401948
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401948
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Disease
664
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664
Ornithine transcarbamylase deficiency
Disease
79173
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79173
Disorder of methionine cycle and sulfur amino acid metabolism
Category
562538
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562538
Autosomal recessive extra-oral halitosis
Disease
619979
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619979
Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome
Disease
394
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394
Homocystinuria due to cystathionine beta-synthase deficiency
Disease
833
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=833
Encephalopathy due to sulfite oxidase deficiency
Disease
99731
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99731
Isolated sulfite oxidase deficiency
Clinical subtype
99732
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99732
Sulfite oxidase deficiency due to molybdenum cofactor deficiency
Clinical subtype
308386
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308386
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Etiological subtype
308393
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308393
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Etiological subtype
308400
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308400
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Etiological subtype
212
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=212
Cystathioninuria
Disease
622
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622
Homocystinuria without methylmalonic aciduria
Disease
2169
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2169
Methylcobalamin deficiency type cblE
Clinical subtype
2170
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2170
Methylcobalamin deficiency type cblG
Clinical subtype
308380
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308380
Methylcobalamin deficiency type cblDv1
Clinical subtype
88618
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88618
S-adenosylhomocysteine hydrolase deficiency
Disease
168598
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168598
Methionine adenosyltransferase I/III deficiency
Disease
289290
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289290
Hypermethioninemia encephalopathy due to adenosine kinase deficiency
Disease
289891
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289891
Hypermethioninemia due to glycine N-methyltransferase deficiency
Disease
1035
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1035
Beta-mercaptolactate cysteine disulfiduria
Biological anomaly
79181
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79181
Disorder of histidine metabolism
Category
2157
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2157
Histidinemia
Disease
210128
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210128
Urocanic aciduria
Disease
2158
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2158
Histidinuria-renal tubular defect syndrome
Disease
79185
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79185
Disorder of ornithine or proline metabolism
Category
289866
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289866
Disorder of proline metabolism
Category
2962
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2962
De Barsy syndrome
Disease
35664
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35664
ALDH18A1-related De Barsy syndrome
Etiological subtype
293633
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293633
PYCR1-related De Barsy syndrome
Etiological subtype
419
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=419
Hyperprolinemia type 1
Disease
79101
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79101
Hyperprolinemia type 2
Disease
90350
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90350
Autosomal recessive cutis laxa type 2
Clinical group
357058
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357058
Autosomal recessive cutis laxa type 2A
Disease
2834
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834
Wrinkly skin syndrome
Clinical subtype
357074
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357074
Autosomal recessive cutis laxa type 2, classic type
Clinical subtype
357064
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357064
Autosomal recessive cutis laxa type 2B
Disease
289869
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289869
Disorder of ornithine metabolism
Category
414
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=414
Gyrate atrophy of choroid and retina
Disease
544488
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544488
Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
Disease
79187
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79187
Disorder of peptide metabolism
Category
1361
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1361
Carnosinase deficiency
Biological anomaly
742
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=742
Prolidase deficiency
Disease
79190
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79190
Disorder of phenylalanin or tyrosine metabolism
Category
284814
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284814
Disorder of phenylalanine metabolism
Category
716
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716
Phenylketonuria
Disease
79253
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79253
Mild phenylketonuria
Clinical subtype
79254
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79254
Classic phenylketonuria
Clinical subtype
79651
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79651
Mild hyperphenylalaninemia
Clinical subtype
293284
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293284
Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
Clinical subtype
2209
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2209
Maternal phenylketonuria
Malformation syndrome
284818
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284818
Disorder of tyrosine metabolism
Category
56
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56
Alkaptonuria
Disease
2118
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2118
Hawkinsinuria
Disease
3402
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3402
Transient tyrosinemia of the newborn
Disease
882
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=882
Tyrosinemia type 1
Disease
28378
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28378
Tyrosinemia type 2
Disease
69723
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69723
Tyrosinemia type 3
Disease
101150
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101150
Autosomal recessive dopa-responsive dystonia
Disease
79194
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79194
Disorder of serine or glycine metabolism
Category
3129
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3129
Sarcosinemia
Disease
407
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=407
Glycine encephalopathy
Disease
289857
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289857
Neonatal glycine encephalopathy
Clinical subtype
289860
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289860
Infantile glycine encephalopathy
Clinical subtype
289863
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289863
Atypical glycine encephalopathy
Clinical subtype
35705
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35705
Neurometabolic disorder due to serine deficiency
Category
2671
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2671
Neu-Laxova syndrome
Malformation syndrome
583602
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583602
Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency
Etiological subtype
583607
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583607
Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency
Etiological subtype
583612
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583612
Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency
Etiological subtype
447997
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447997
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Disease
583595
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583595
Serine biosynthesis pathway deficiency, infantile/juvenile form
Disease
79351
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79351
3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
Etiological subtype
79350
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79350
3-phosphoserine phosphatase deficiency, infantile/juvenile form
Etiological subtype
284417
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284417
Phosphoserine aminotransferase deficiency, infantile/juvenile form
Etiological subtype
243343
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243343
Dimethylglycine dehydrogenase deficiency
Disease
79196
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79196
Disorder of the gamma-glutamyl cycle
Category
32
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=32
Glutathione synthetase deficiency
Disease
289846
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289846
Glutathione synthetase deficiency with 5-oxoprolinuria
Clinical subtype
289849
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289849
Glutathione synthetase deficiency without 5-oxoprolinuria
Clinical subtype
33572
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33572
5-oxoprolinase deficiency
Disease
33573
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33573
Gamma-glutamyl transpeptidase deficiency
Disease
33574
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33574
Glutamate-cysteine ligase deficiency
Disease
79197
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79197
Disorder of branched-chain amino acid metabolism
Category
511
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=511
Maple syrup urine disease
Disease
268145
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268145
Classic maple syrup urine disease
Clinical subtype
268162
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268162
Intermediate maple syrup urine disease
Clinical subtype
268173
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268173
Intermittent maple syrup urine disease
Clinical subtype
268184
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268184
Thiamine-responsive maple syrup urine disease
Clinical subtype
289307
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289307
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
Disease
308410
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308410
Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
Disease
401948
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401948
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Disease
289829
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289829
Disorder of tryptophan metabolism
Category
2224
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2224
Hypertryptophanemia
Disease
79155
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79155
Hydroxykynureninuria
Disease
289832
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289832
Disorder of lysine and hydroxylysine metabolism
Category
2203
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2203
Hyperlysinemia
Disease
3124
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3124
Saccharopinuria
Disease
79154
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79154
2-aminoadipic 2-oxoadipic aciduria
Disease
79156
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79156
Seizures-intellectual disability due to hydroxylysinuria syndrome
Disease
289841
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289841
Disorder of glutamine metabolism
Category
557056
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557056
Spastic ataxia-dysarthria due to glutaminase deficiency
Disease
557064
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557064
Neonatal epileptic encephalopathy due to glutaminase deficiency
Disease
71278
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71278
Congenital brain dysgenesis due to glutamine synthetase deficiency
Disease
289899
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289899
Organic aciduria
Category
79158
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79158
Cerebral organic aciduria
Category
653880
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653880
Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
Disease
19
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=19
2-hydroxyglutaric aciduria
Clinical group
79314
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79314
L-2-hydroxyglutaric aciduria
Disease
79315
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79315
D-2-hydroxyglutaric aciduria
Disease
356978
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356978
D,L-2-hydroxyglutaric aciduria
Disease
25
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=25
Glutaryl-CoA dehydrogenase deficiency
Disease
308448
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308448
Aminoacylase deficiency
Clinical group
141
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141
Canavan disease
Disease
314911
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314911
Severe Canavan disease
Clinical subtype
314918
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314918
Mild Canavan disease
Clinical subtype
137754
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137754
Neurological conditions associated with aminoacylase 1 deficiency
Disease
391417
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391417
HSD10 disease
Disease
85295
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85295
HSD10 disease, atypical type
Clinical subtype
391428
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391428
HSD10 disease, infantile type
Clinical subtype
391457
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391457
HSD10 disease, neonatal type
Clinical subtype
79163
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79163
Classic organic aciduria
Category
33
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33
Isovaleric acidemia
Disease
148
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=148
Multiple carboxylase deficiency
Clinical group
79241
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79241
Biotinidase deficiency
Disease
79242
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79242
Holocarboxylase synthetase deficiency
Disease
26
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26
Methylmalonic acidemia with homocystinuria
Disease
79282
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79282
Methylmalonic acidemia with homocystinuria, type cblC
Clinical subtype
79283
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79283
Methylmalonic acidemia with homocystinuria, type cblD
Clinical subtype
79284
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79284
Methylmalonic acidemia with homocystinuria type cblF
Clinical subtype
369955
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369955
Methylmalonic acidemia with homocystinuria, type cblJ
Clinical subtype
369962
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369962
Methylmalonic acidemia with homocystinuria, type cblX
Clinical subtype
134
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=134
Beta-ketothiolase deficiency
Disease
939
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=939
3-hydroxyisobutyric aciduria
Disease
20
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=20
3-hydroxy-3-methylglutaric aciduria
Disease
6
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=6
3-methylcrotonyl-CoA carboxylase deficiency
Disease
35
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35
Propionic acidemia
Disease
79157
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79157
2-methylbutyryl-CoA dehydrogenase deficiency
Disease
79159
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79159
Isobutyryl-CoA dehydrogenase deficiency
Disease
88639
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88639
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
Disease
289504
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289504
Combined malonic and methylmalonic acidemia
Disease
289902
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289902
3-methylglutaconic aciduria
Clinical group
505208
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505208
3-methylglutaconic aciduria type 8
Disease
111
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=111
Barth syndrome
Disease
66634
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66634
Dilated cardiomyopathy with ataxia
Disease
67046
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67046
3-methylglutaconic aciduria type 1
Disease
67047
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67047
3-methylglutaconic aciduria type 3
Disease
67048
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67048
3-methylglutaconic aciduria type 4
Disease
352328
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352328
MEGDEL syndrome
Disease
445038
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445038
3-methylglutaconic aciduria type 7
Disease
505216
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505216
3-methylglutaconic aciduria type 9
Disease
293355
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293355
Methylmalonic acidemia without homocystinuria
Clinical group
27
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=27
Vitamin B12-unresponsive methylmalonic acidemia
Disease
79312
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79312
Vitamin B12-unresponsive methylmalonic acidemia type mut-
Clinical subtype
289916
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289916
Vitamin B12-unresponsive methylmalonic acidemia type mut0
Clinical subtype
28
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28
Vitamin B12-responsive methylmalonic acidemia
Disease
79310
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79310
Vitamin B12-responsive methylmalonic acidemia type cblA
Clinical subtype
79311
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79311
Vitamin B12-responsive methylmalonic acidemia type cblB
Clinical subtype
308442
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308442
Vitamin B12-responsive methylmalonic acidemia, type cblDv2
Clinical subtype
308425
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308425
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Disease
308407
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308407
Disorder of beta and omega amino acid metabolism
Category
2066
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2066
Gamma-aminobutyric acid transaminase deficiency
Disease
352728
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352728
Disorder of melanin metabolism
Category
55
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55
Oculocutaneous albinism
Clinical group
79432
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79432
Oculocutaneous albinism type 2
Disease
79433
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79433
Oculocutaneous albinism type 3
Disease
79435
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79435
Oculocutaneous albinism type 4
Disease
352731
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352731
Oculocutaneous albinism type 1
Disease
79431
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79431
Oculocutaneous albinism type 1A
Clinical subtype
79434
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79434
Oculocutaneous albinism type 1B
Clinical subtype
352734
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352734
Minimal pigment oculocutaneous albinism type 1
Clinical subtype
352737
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352737
Temperature-sensitive oculocutaneous albinism type 1
Clinical subtype
352745
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352745
Oculocutaneous albinism type 7
Disease
370091
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370091
Oculocutaneous albinism type 5
Disease
370097
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370097
Oculocutaneous albinism type 6
Disease
597733
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597733
Oculocutaneous albinism type 8
Disease
284804
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284804
Ocular albinism
Clinical group
1000
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1000
Ocular albinism with late-onset sensorineural deafness
Disease
54
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54
X-linked recessive ocular albinism
Disease
391381
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391381
Disorder of asparagine metabolism
Category
391376
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391376
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
Disease
79161
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79161
Disorder of carbohydrate metabolism
Category
79177
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79177
Gluconeogenesis disorder
Category
348
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=348
Fructose-1,6-bisphosphatase deficiency
Disease
2880
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2880
Phosphoenolpyruvate carboxykinase deficiency
Disease
3008
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3008
Pyruvate carboxylase deficiency
Disease
353308
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353308
Pyruvate carboxylase deficiency, infantile type
Clinical subtype
353314
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353314
Pyruvate carboxylase deficiency, severe neonatal type
Clinical subtype
353320
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353320
Pyruvate carboxylase deficiency, benign type
Clinical subtype
401948
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401948
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Disease
79179
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79179
Disorder of glycerol metabolism
Category
308993
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308993
Glycerol kinase deficiency
Clinical group
408
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=408
Isolated glycerol kinase deficiency
Disease
284411
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284411
Glycerol kinase deficiency, juvenile form
Clinical subtype
284414
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284414
Glycerol kinase deficiency, adult form
Clinical subtype
261476
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261476
Xp21 deletion syndrome
Disease
79201
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79201
Glycogen storage disease
Category
365
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=365
Glycogen storage disease due to acid maltase deficiency
Disease
308552
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308552
Glycogen storage disease due to acid maltase deficiency, infantile onset
Clinical subtype
420429
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420429
Glycogen storage disease due to acid maltase deficiency, late-onset
Clinical subtype
366
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=366
Glycogen storage disease due to glycogen debranching enzyme deficiency
Disease
367
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=367
Glycogen storage disease due to glycogen branching enzyme deficiency
Disease
206583
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206583
Adult polyglucosan body disease
Clinical subtype
308621
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308621
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
Clinical subtype
308638
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308638
Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
Clinical subtype
308655
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308655
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
Clinical subtype
308670
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308670
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
Clinical subtype
308684
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308684
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
Clinical subtype
308698
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308698
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
Clinical subtype
308712
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308712
Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
Clinical subtype
368
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=368
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Disease
369
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369
Glycogen storage disease due to liver glycogen phosphorylase deficiency
Disease
371
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371
Glycogen storage disease due to muscle phosphofructokinase deficiency
Disease
370
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370
Glycogen storage disease due to phosphorylase kinase deficiency
Clinical group
715
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715
Glycogen storage disease due to muscle phosphorylase kinase deficiency
Disease
79240
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79240
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
Disease
264580
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264580
Glycogen storage disease due to liver phosphorylase kinase deficiency
Disease
364
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364
Glycogen storage disease due to glucose-6-phosphatase deficiency
Disease
79258
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79258
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
Clinical subtype
79259
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79259
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
Clinical subtype
57
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57
Glycogen storage disease due to aldolase A deficiency
Disease
713
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=713
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Disease
2088
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2088
Fanconi-Bickel syndrome
Disease
2364
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2364
Glycogen storage disease due to lactate dehydrogenase deficiency
Disease
284426
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284426
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Clinical subtype
284435
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284435
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
Clinical subtype
34587
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34587
Glycogen storage disease due to LAMP-2 deficiency
Disease
97234
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97234
Glycogen storage disease due to phosphoglycerate mutase deficiency
Disease
99849
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99849
Glycogen storage disease due to muscle beta-enolase deficiency
Disease
263297
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263297
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
Disease
308520
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308520
Glycogen storage disease due to glycogen synthase deficiency
Clinical group
2089
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2089
Glycogen storage disease due to hepatic glycogen synthase deficiency
Disease
137625
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137625
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Disease
397937
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397937
Polyglucosan body myopathy type 1
Disease
439854
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439854
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
Disease
319646
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319646
PGM1-CDG
Disease
456369
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456369
Polyglucosan body myopathy type 2
Disease
308459
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308459
Disorder of glycolysis
Category
868
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=868
Triose phosphate-isomerase deficiency
Disease
712
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=712
Hemolytic anemia due to glucophosphate isomerase deficiency
Disease
79299
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79299
Congenital glucokinase-related hyperinsulinism
Disease
308463
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308463
Disorder of fructose metabolism
Category
469
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=469
Hereditary fructose intolerance
Disease
348
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=348
Fructose-1,6-bisphosphatase deficiency
Disease
2056
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2056
Essential fructosuria
Disease
308467
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308467
Disorder of galactose metabolism
Category
352
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352
Galactosemia
Category
79237
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79237
Galactokinase deficiency
Disease
79238
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79238
Galactose epimerase deficiency
Disease
308473
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308473
Erythrocyte galactose epimerase deficiency
Clinical subtype
308487
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308487
Generalized galactose epimerase deficiency
Clinical subtype
79239
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79239
Classic galactosemia
Disease
570422
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570422
Galactose mutarotase deficiency
Disease
308998
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308998
Disorder of glyoxylate metabolism
Category
941
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=941
D-glyceric aciduria
Disease
416
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=416
Primary hyperoxaluria
Disease
93598
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93598
Primary hyperoxaluria type 1
Clinical subtype
93599
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93599
Primary hyperoxaluria type 2
Clinical subtype
93600
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93600
Primary hyperoxaluria type 3
Clinical subtype
309001
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309001
Disorder of carbohydrate absorption and transport
Category
469
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=469
Hereditary fructose intolerance
Disease
35122
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35122
Congenital sucrase-isomaltase deficiency
Disease
53690
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53690
Congenital lactase deficiency
Disease
79178
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79178
Glucose transport disorder
Category
2088
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2088
Fanconi-Bickel syndrome
Disease
35710
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35710
Glucose-galactose malabsorption
Disease
69076
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69076
Familial renal glucosuria
Disease
71277
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71277
Classic glucose transporter type 1 deficiency syndrome
Disease
103907
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103907
Chronic diarrhea due to glucoamylase deficiency
Disease
103909
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103909
Trehalase deficiency
Disease
165991
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165991
Exercise-induced hyperinsulinism
Disease
247794
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247794
Juvenile cataract-microcornea-renal glucosuria syndrome
Disease
440701
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440701
Disorders of pentose/polyol metabolism
Category
2843
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2843
Pentosuria
Disease
79186
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79186
Disorder of pentose phosphate metabolism
Category
488618
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488618
Transketolase deficiency
Malformation syndrome
101028
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101028
Transaldolase deficiency
Disease
440706
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440706
Ribose-5-P isomerase deficiency
Disease
440713
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440713
Isolated sedoheptulokinase deficiency
Disease
79200
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79200
Disorder of energy metabolism
Category
68380
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68380
Mitochondrial disease
Category
223713
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=223713
Mitochondrial oxidative phosphorylation disorder
Category
2443
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2443
Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
Category
527276
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527276
Encephalopathy due to mitochondrial and peroxisomal fission defect
Disease
330050
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330050
DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
Etiological subtype
485421
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485421
MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
Etiological subtype
611237
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611237
Parkinsonism with polyneuropathy
Disease
506
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506
Leigh syndrome
Disease
1561
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1561
Fatal infantile cytochrome C oxidase deficiency
Disease
35656
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35656
Coenzyme Q10 deficiency
Clinical group
1168
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1168
Ataxia-oculomotor apraxia type 1
Disease
139485
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139485
Autosomal recessive ataxia due to ubiquinone deficiency
Disease
254898
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254898
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Disease
280406
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280406
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Disease
319678
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319678
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Disease
457185
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457185
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Disease
658778
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658778
COQ7-related distal hereditary motor neuropathy
Disease
35696
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35696
Mitochondrial disorder due to a defect in mitochondrial protein synthesis
Category
2598
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2598
Mitochondrial myopathy and sideroblastic anemia
Disease
2855
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2855
Perrault syndrome
Disease
642945
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642945
Perrault syndrome type 1
Clinical subtype
642976
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642976
Perrault syndrome type 2
Clinical subtype
99013
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99013
Spastic paraplegia type 7
Disease
101109
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101109
Spinocerebellar ataxia type 28
Disease
137681
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137681
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Disease
137898
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137898
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Disease
137908
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137908
Hypotonia with lactic acidemia and hyperammonemia
Disease
166073
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166073
Pontocerebellar hypoplasia type 6
Malformation syndrome
168566
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168566
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Disease
217371
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217371
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Disease
238329
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238329
Severe X-linked mitochondrial encephalomyopathy
Disease
254343
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254343
Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
Disease
254920
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254920
Combined oxidative phosphorylation defect type 2
Disease
254925
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254925
Combined oxidative phosphorylation defect type 4
Disease
314051
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314051
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
Disease
314603
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314603
Autosomal recessive spastic ataxia with leukoencephalopathy
Disease
314637
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314637
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Disease
319504
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319504
Combined oxidative phosphorylation defect type 8
Disease
319509
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319509
Combined oxidative phosphorylation defect type 9
Disease
319514
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319514
Combined oxidative phosphorylation defect type 13
Disease
319519
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319519
Combined oxidative phosphorylation defect type 14
Disease
319524
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319524
Combined oxidative phosphorylation defect type 15
Disease
324535
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324535
Combined oxidative phosphorylation defect type 11
Disease
352563
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352563
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Disease
363694
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363694
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Disease
369913
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369913
Combined oxidative phosphorylation defect type 17
Disease
420728
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420728
Combined oxidative phosphorylation defect type 20
Disease
420733
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420733
Combined oxidative phosphorylation defect type 21
Disease
436174
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436174
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
Disease
444013
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444013
Combined oxidative phosphorylation defect type 23
Disease
444458
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444458
Combined oxidative phosphorylation defect type 24
Disease
447954
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447954
Combined oxidative phosphorylation defect type 25
Disease
565624
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565624
Combined oxidative phosphorylation defect type 39
Disease
528091
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528091
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
Disease
457223
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457223
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect
Disease
478042
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478042
Combined oxidative phosphorylation defect type 30
Disease
466784
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466784
Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect
Disease
477774
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477774
Combined oxidative phosphorylation defect type 27
Disease
497623
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497623
C12ORF65-related combined oxidative phosphorylation defect
Clinical group
254930
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254930
Combined oxidative phosphorylation defect type 7
Disease
320375
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320375
Autosomal recessive spastic paraplegia type 55
Disease
477684
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477684
Combined oxidative phosphorylation defect type 26
Disease
466722
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466722
Autosomal recessive spastic paraplegia type 77
Disease
478029
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478029
Combined oxidative phosphorylation defect type 29
Disease
570491
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570491
QRSL1-related combined oxidative phosphorylation defect
Disease
572798
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572798
WARS2-related combined oxidative phosphorylation defect
Disease
199337
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199337
Pancreatic insufficiency-anemia-hyperostosis syndrome
Disease
254822
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254822
Mitochondrial oxidative phosphorylation disorder with no known mechanism
Category
50812
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50812
Zellweger-like syndrome without peroxisomal anomalies
Disease
67036
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67036
Autosomal dominant optic atrophy and cataract
Disease
98673
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98673
Autosomal dominant optic atrophy, classic form
Disease
166105
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166105
FASTKD2-related infantile mitochondrial encephalomyopathy
Disease
227976
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227976
Autosomal recessive optic atrophy, OPA7 type
Disease
250932
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250932
Autosomal dominant optic atrophy and peripheral neuropathy
Disease
391348
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391348
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Disease
436271
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436271
Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
Disease
457050
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457050
Autosomal dominant mitochondrial myopathy with exercise intolerance
Disease
309136
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309136
Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
Category
543470
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=543470
Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
Disease
1194
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1194
TMEM70-related mitochondrial encephalo-cardio-myopathy
Disease
123
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=123
Björnstad syndrome
Disease
53693
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53693
GRACILE syndrome
Disease
254843
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254843
Exercise intolerance with lactic acidosis
Clinical group
43115
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43115
Hereditary myopathy with lactic acidosis due to ISCU deficiency
Disease
99901
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99901
Acyl-CoA dehydrogenase 9 deficiency
Disease
254902
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254902
Renal tubulopathy-encephalopathy-liver failure syndrome
Disease
289573
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289573
Multiple mitochondrial dysfunctions syndrome
Clinical group
569290
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569290
Multiple mitochondrial dysfunctions syndrome type 6
Disease
363424
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363424
Multiple mitochondrial dysfunctions syndrome type 3
Disease
401869
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401869
Multiple mitochondrial dysfunctions syndrome type 1
Disease
401874
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401874
Multiple mitochondrial dysfunctions syndrome type 2
Disease
457406
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457406
Multiple mitochondrial dysfunctions syndrome type 4
Disease
569274
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569274
Multiple mitochondrial dysfunctions syndrome type 5
Disease
352328
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352328
MEGDEL syndrome
Disease
397593
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397593
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
Disease
542585
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542585
Auditory neuropathy-optic atrophy syndrome
Disease
330054
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330054
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
Disease
352456
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352456
Mitochondrial DNA maintenance syndrome
Category
298
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298
Mitochondrial neurogastrointestinal encephalomyopathy
Disease
35698
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35698
Mitochondrial DNA depletion syndrome
Category
254803
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254803
Mitochondrial DNA depletion syndrome, encephalomyopathic form
Clinical group
1933
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1933
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Disease
17
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=17
Fatal infantile lactic acidosis with methylmalonic aciduria
Disease
255235
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255235
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Disease
369897
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369897
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Disease
254871
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254871
Mitochondrial DNA depletion syndrome, hepatocerebral form
Clinical group
1186
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1186
Infantile-onset spinocerebellar ataxia
Disease
726
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=726
Alpers-Huttenlocher syndrome
Disease
255229
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255229
Navajo neurohepatopathy
Disease
279934
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279934
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Disease
363534
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363534
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Disease
254875
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254875
Mitochondrial DNA depletion syndrome, myopathic form
Disease
313772
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313772
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
Disease
254807
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254807
Multiple mitochondrial DNA deletion syndrome
Category
1215
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1215
Autosomal dominant optic atrophy plus syndrome
Disease
254818
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254818
Ataxia neuropathy spectrum
Clinical group
70595
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70595
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
Disease
94125
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94125
Recessive mitochondrial ataxia syndrome
Disease
254881
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254881
Spinocerebellar ataxia with epilepsy
Disease
254886
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254886
Autosomal recessive progressive external ophthalmoplegia
Disease
254892
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254892
Autosomal dominant progressive external ophthalmoplegia
Disease
329314
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329314
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Disease
352470
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352470
DNA2-related mitochondrial DNA deletion syndrome
Disease
352447
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352447
Progressive external ophthalmoplegia-myopathy-emaciation syndrome
Disease
391351
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391351
SURF1-related Charcot-Marie-Tooth disease type 4
Disease
435998
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435998
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
Disease
478049
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478049
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
Disease
70472
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70472
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Disease
254758
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254758
Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
Category
254767
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254767
Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
Category
480
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480
Kearns-Sayre syndrome
Disease
699
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699
Pearson syndrome
Disease
663
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=663
Mitochondrial DNA-related progressive external ophthalmoplegia
Disease
1670
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1670
Chronic diarrhea with villous atrophy
Disease
329336
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329336
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Disease
254776
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254776
Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
Category
550
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=550
MELAS
Disease
551
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=551
MERRF
Disease
104
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104
Leber hereditary optic neuropathy
Disease
644
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=644
NARP syndrome
Disease
225
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225
Maternally-inherited diabetes and deafness
Disease
90641
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90641
Rare mitochondrial non-syndromic sensorineural deafness
Etiological subtype
99718
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99718
Leber plus disease
Disease
254788
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254788
Mitochondrial DNA-related mitochondrial myopathy
Clinical group
2596
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2596
Myopathy and diabetes mellitus
Disease
254854
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254854
Pure mitochondrial myopathy
Disease
254857
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254857
Lethal infantile mitochondrial myopathy
Disease
254864
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254864
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Disease
254851
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254851
Mitochondrial DNA-related dystonia
Disease
255210
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255210
Mitochondrial DNA-associated Leigh syndrome
Disease
324525
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324525
Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
Disease
397750
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397750
Periodic paralysis with later-onset distal motor neuropathy
Disease
620371
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620371
Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation
Disease
1349
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1349
Mitochondrial DNA-related cardiomyopathy and hearing loss
Malformation syndrome
254846
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254846
Isolated oxidative phosphorylation complex disorder
Category
2609
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2609
Isolated complex I deficiency
Disease
3208
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3208
Isolated succinate-CoQ reductase deficiency
Disease
1460
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1460
Isolated complex III deficiency
Disease
254905
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254905
Isolated cytochrome C oxidase deficiency
Disease
254913
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254913
Isolated ATP synthase deficiency
Disease
254827
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254827
Mitochondrial membrane transport disorder
Category
254830
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254830
Mitochondrial substrate carrier disorder
Category
1369
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1369
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Disease
1935
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1935
Early myoclonic encephalopathy
Clinical syndrome
91130
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91130
Cardiomyopathy-hypotonia-lactic acidosis syndrome
Disease
255132
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255132
Adult-onset autosomal recessive sideroblastic anemia
Disease
353217
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353217
Epileptic encephalopathy with global cerebral demyelination
Disease
466784
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466784
Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect
Disease
254834
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254834
Mitochondrial protein import disorder
Category
52368
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52368
Mohr-Tranebjaerg syndrome
Disease
254837
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254837
Unspecified mitochondrial disorder
Clinical group
496790
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496790
Ocular anomalies-axonal neuropathy-developmental delay syndrome
Disease
502423
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502423
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
Disease
656279
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656279
1p36.33 duplication syndrome
Disease
2802
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2802
X-linked sideroblastic anemia and spinocerebellar ataxia
Disease
51188
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51188
Ethylmalonic encephalopathy
Disease
98672
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98672
Autosomal dominant optic atrophy
Clinical group
1215
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1215
Autosomal dominant optic atrophy plus syndrome
Disease
67036
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67036
Autosomal dominant optic atrophy and cataract
Disease
98673
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98673
Autosomal dominant optic atrophy, classic form
Disease
250932
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250932
Autosomal dominant optic atrophy and peripheral neuropathy
Disease
137675
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137675
Histiocytoid cardiomyopathy
Disease
2597
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2597
Mitochondrial myopathy-lactic acidosis-deafness syndrome
Disease
401854
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401854
Lipoic acid biosynthesis defect
Category
2394
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2394
Pyruvate dehydrogenase E3 deficiency
Clinical subtype
289573
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289573
Multiple mitochondrial dysfunctions syndrome
Clinical group
569290
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569290
Multiple mitochondrial dysfunctions syndrome type 6
Disease
363424
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363424
Multiple mitochondrial dysfunctions syndrome type 3
Disease
401869
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401869
Multiple mitochondrial dysfunctions syndrome type 1
Disease
401874
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401874
Multiple mitochondrial dysfunctions syndrome type 2
Disease
457406
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457406
Multiple mitochondrial dysfunctions syndrome type 4
Disease
569274
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569274
Multiple mitochondrial dysfunctions syndrome type 5
Disease
401859
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401859
Lipoic acid synthetase deficiency
Disease
401862
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401862
Lipoyl transferase 1 deficiency
Disease
401866
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401866
Childhood-onset spasticity with hyperglycinemia
Disease
447795
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447795
Lipoyl transferase 2 deficiency
Biological anomaly
508093
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508093
MEPAN syndrome
Malformation syndrome
79172
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79172
Creatine deficiency syndrome
Clinical group
382
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=382
Guanidinoacetate methyltransferase deficiency
Disease
35704
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35704
L-Arginine:glycine amidinotransferase deficiency
Disease
52503
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52503
X-linked creatine transporter deficiency
Disease
79174
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79174
Disorder of fatty acid oxidation and ketone body metabolism
Category
79183
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79183
Disorder of ketolysis
Category
134
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=134
Beta-ketothiolase deficiency
Disease
832
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=832
Succinyl-CoA:3-oxoacid CoA transferase deficiency
Disease
309115
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309115
Disorder of fatty acid oxidation and ketogenesis
Category
746
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=746
Mitochondrial trifunctional protein deficiency
Disease
20
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=20
3-hydroxy-3-methylglutaric aciduria
Disease
35701
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35701
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Disease
309120
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309120
Acyl-CoA dehydrogenase deficiency
Clinical group
42
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42
Medium chain acyl-CoA dehydrogenase deficiency
Disease
26791
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26791
Multiple acyl-CoA dehydrogenase deficiency
Disease
394529
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394529
Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
Clinical subtype
394532
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394532
Multiple acyl-CoA dehydrogenase deficiency, mild type
Clinical subtype
26792
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26792
Short chain acyl-CoA dehydrogenase deficiency
Disease
26793
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26793
Very long chain acyl-CoA dehydrogenase deficiency
Disease
329942
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329942
Transient neonatal multiple acyl-CoA dehydrogenase deficiency
Disease
309127
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309127
3-hydroxyacyl-CoA dehydrogenase deficiency
Clinical group
5
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=5
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Disease
71212
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71212
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Disease
309130
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309130
Disorder of carnitine cycle and carnitine transport
Category
157
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157
Carnitine palmitoyltransferase II deficiency
Disease
228302
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228302
Carnitine palmitoyl transferase II deficiency, myopathic form
Clinical subtype
228305
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228305
Carnitine palmitoyl transferase II deficiency, severe infantile form
Clinical subtype
228308
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228308
Carnitine palmitoyl transferase II deficiency, neonatal form
Clinical subtype
156
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156
Carnitine palmitoyl transferase 1A deficiency
Disease
158
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158
Systemic primary carnitine deficiency
Disease
159
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=159
Carnitine-acylcarnitine translocase deficiency
Disease
309133
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309133
Metabolic disease due to other fatty acid oxidation disorder
Category
943
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=943
Malonic aciduria
Disease
438072
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438072
Disorder of keton body transport
Category
438075
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438075
Ketoacidosis due to monocarboxylate transporter-1 deficiency
Disease
254746
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254746
Pyruvate metabolism disorder
Category
765
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=765
Pyruvate dehydrogenase deficiency
Disease
2394
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2394
Pyruvate dehydrogenase E3 deficiency
Clinical subtype
79243
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79243
Pyruvate dehydrogenase E1-alpha deficiency
Clinical subtype
79244
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79244
Pyruvate dehydrogenase E2 deficiency
Clinical subtype
79246
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79246
Pyruvate dehydrogenase phosphatase deficiency
Clinical subtype
255138
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255138
Pyruvate dehydrogenase E1-beta deficiency
Clinical subtype
255182
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255182
Pyruvate dehydrogenase E3-binding protein deficiency
Clinical subtype
766
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=766
Hemolytic anemia due to red cell pyruvate kinase deficiency
Disease
447784
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447784
Mitochondrial pyruvate carrier deficiency
Disease
254749
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254749
Tricarboxylic acid cycle disorder
Category
615964
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615964
Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate
Disease
31
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31
Oxoglutaric aciduria
Disease
24
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=24
Fumaric aciduria
Disease
313850
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313850
Infantile cerebellar-retinal degeneration
Disease
79214
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79214
Disorder of biogenic amine metabolism and transport
Category
79169
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79169
Disorder of neurotransmitter metabolism and transport
Category
3057
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3057
Monoamine oxidase A deficiency
Disease
309819
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309819
Disorder of pterin metabolism
Category
255
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255
Dopa-responsive dystonia
Clinical group
101150
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101150
Autosomal recessive dopa-responsive dystonia
Disease
70594
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70594
Dopa-responsive dystonia due to sepiapterin reductase deficiency
Disease
98808
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98808
Autosomal dominant dopa-responsive dystonia
Disease
238583
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238583
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
Disease
226
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226
Dihydropteridine reductase deficiency
Clinical subtype
13
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=13
6-pyruvoyl-tetrahydropterin synthase deficiency
Clinical subtype
2102
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2102
GTP cyclohydrolase I deficiency
Clinical subtype
1578
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1578
Pterin-4 alpha-carbinolamine dehydratase deficiency
Clinical subtype
508523
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508523
Hyperphenylalaninemia due to DNAJC12 deficiency
Disease
309830
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309830
Disorder of catecholamine synthesis
Category
230
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230
Dopamine beta-hydroxylase deficiency
Disease
35708
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35708
Aromatic L-amino acid decarboxylase deficiency
Disease
352649
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352649
Brain dopamine-serotonin vesicular transport disease
Disease
79175
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79175
Disorder of gamma-aminobutyric acid metabolism
Category
22
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=22
Succinic semialdehyde dehydrogenase deficiency
Disease
2066
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2066
Gamma-aminobutyric acid transaminase deficiency
Disease
79192
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79192
Disorder of pyridoxine metabolism
Category
3006
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3006
Pyridoxine-dependent epilepsy
Disease
79096
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79096
Pyridoxal phosphate-responsive seizures
Disease
79219
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79219
Metabolic disease involving other neurotransmitter deficiency
Category
3197
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3197
Hereditary hyperekplexia
Disease
132
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=132
Hereditary butyrylcholinesterase deficiency
Disease
79097
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79097
Folinic acid-responsive seizures
Disease
79224
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79224
Disorder of purine or pyrimidine metabolism
Category
79191
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79191
Disorder of purine metabolism
Category
124
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=124
Diamond-Blackfan anemia
Disease
45
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45
Adenosine monophosphate deaminase deficiency
Disease
760
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=760
Purine nucleoside phosphorylase deficiency
Disease
3467
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3467
Hereditary xanthinuria
Disease
93601
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93601
Xanthinuria type I
Etiological subtype
93602
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93602
Xanthinuria type II
Etiological subtype
46
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46
Adenylosuccinate lyase deficiency
Disease
976
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=976
Adenine phosphoribosyltransferase deficiency
Disease
1187
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1187
Lethal ataxia with deafness and optic atrophy
Disease
3222
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3222
Phosphoribosylpyrophosphate synthetase superactivity
Disease
411536
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411536
Mild phosphoribosylpyrophosphate synthetase superactivity
Clinical subtype
411543
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411543
Severe phosphoribosylpyrophosphate synthetase superactivity
Clinical subtype
277
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=277
Severe combined immunodeficiency due to adenosine deaminase deficiency
Disease
99014
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99014
X-linked Charcot-Marie-Tooth disease type 5
Disease
99138
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99138
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
Disease
206428
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206428
Hypoxanthine-guanine phosphoribosyltransferase deficiency
Clinical group
510
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=510
Lesch-Nyhan syndrome
Disease
79233
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79233
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Disease
250977
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250977
AICA-ribosiduria
Disease
279934
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279934
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Disease
423479
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423479
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
Disease
457375
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457375
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
Disease
633099
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633099
PAICS deficiency
Malformation syndrome
79193
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79193
Disorder of pyrimidine metabolism
Category
30
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30
Hereditary orotic aciduria
Disease
1675
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1675
Dihydropyrimidine dehydrogenase deficiency
Disease
298
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298
Mitochondrial neurogastrointestinal encephalomyopathy
Disease
35120
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35120
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Disease
38874
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=38874
Dihydropyrimidinuria
Disease
65287
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65287
Beta-ureidopropionase deficiency
Disease
254875
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254875
Mitochondrial DNA depletion syndrome, myopathic form
Disease
309147
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309147
Hyper-beta-alaninemia
Disease
448010
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448010
CAD-CDG
Disease
91088
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91088
Other metabolic disease
Category
60
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60
Alpha-1-antitrypsin deficiency
Disease
714
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714
Hemolytic anemia due to diphosphoglycerate mutase deficiency
Disease
79345
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79345
Brachytelephalangic chondrodysplasia punctata
Malformation syndrome
79507
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79507
Hypotonia-failure to thrive-microcephaly syndrome
Disease
99845
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99845
Genetic recurrent myoglobinuria
Disease
99846
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99846
Autosomal dominant myoglobinuria
Disease
404454
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404454
Alacrimia-choreoathetosis-liver dysfunction syndrome
Disease
555402
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555402
NAD(P)HX dehydratase deficiency
Disease
555407
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555407
NAD(P)HX epimerase deficiency
Disease
309005
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309005
Disorder of lipid metabolism
Category
79226
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79226
Sterol metabolism disorder
Category
79168
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79168
Disorder of bile acid synthesis
Category
84065
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84065
Idiopathic malabsorption due to bile acid synthesis defects
Disease
163631
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163631
Bile acid synthesis defect with cholestasis and malabsorption
Category
485631
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485631
Congenital bile acid synthesis defect
Clinical group
79095
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79095
Congenital bile acid synthesis defect type 4
Disease
79301
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79301
Congenital bile acid synthesis defect type 1
Disease
79302
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79302
Congenital bile acid synthesis defect type 3
Disease
79303
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79303
Congenital bile acid synthesis defect type 2
Disease
909
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909
Cerebrotendinous xanthomatosis
Disease
238475
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238475
Familial hypercholanemia
Disease
276066
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276066
Bile acid CoA ligase deficiency and defective amidation
Disease
209902
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209902
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Disease
79195
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79195
Sterol biosynthesis disorder
Category
488168
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488168
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
Malformation syndrome
1426
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1426
Greenberg dysplasia
Disease
139
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139
CHILD syndrome
Disease
818
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818
Smith-Lemli-Opitz syndrome
Malformation syndrome
35107
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35107
Desmosterolosis
Disease
35173
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35173
X-linked dominant chondrodysplasia punctata
Disease
46059
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46059
Lathosterolosis
Disease
309025
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309025
Mevalonate kinase deficiency
Disease
29
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29
Mevalonic aciduria
Clinical subtype
343
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=343
Hyperimmunoglobulinemia D with periodic fever
Clinical subtype
401973
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401973
MEND syndrome
Malformation syndrome
251383
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251383
CK syndrome
Malformation syndrome
101953
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101953
Rare dyslipidemia
Category
181422
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181422
Rare hyperlipidemia
Category
412
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412
Dysbetalipoproteinemia
Disease
181428
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181428
Hyperalphalipoproteinemia
Clinical group
79506
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79506
Cholesterol-ester transfer protein deficiency
Disease
140905
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140905
Hyperlipidemia due to hepatic triacylglycerol lipase deficiency
Disease
444490
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444490
Familial chylomicronemia syndrome
Disease
309015
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309015
Familial lipoprotein lipase deficiency
Etiological subtype
309020
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309020
Familial apolipoprotein C-II deficiency
Etiological subtype
535453
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=535453
Familial lipase maturation factor 1 deficiency
Etiological subtype
535458
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=535458
Familial GPIHBP1 deficiency
Etiological subtype
530849
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530849
Familial apolipoprotein A5 deficiency
Etiological subtype
477811
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477811
Rare hypercholesterolemia
Category
209902
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209902
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Disease
391665
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391665
Homozygous familial hypercholesterolemia
Disease
466703
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466703
TMEM199-CDG
Disease
468684
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468684
CCDC115-CDG
Disease
77293
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77293
Chronic visceral acid sphingomyelinase deficiency
Disease
618891
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618891
Chronic neurovisceral acid sphingomyelinase deficiency
Disease
181431
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181431
Rare hypolipidemia
Category
31153
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31153
Hypoalphalipoproteinemia
Clinical group
650
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650
LCAT deficiency
Disease
79292
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79292
Fish-eye disease
Clinical subtype
79293
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79293
Familial LCAT deficiency
Clinical subtype
425
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425
Apolipoprotein A-I deficiency
Disease
31150
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31150
Tangier disease
Disease
31154
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31154
Hypobetalipoproteinemia
Clinical group
14
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=14
Abetalipoproteinemia
Disease
71
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71
Chylomicron retention disease
Disease
181437
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181437
Rare syndromic dyslipidemia
Category
909
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909
Cerebrotendinous xanthomatosis
Disease
2882
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2882
Sitosterolemia
Disease
275761
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275761
Lysosomal acid lipase deficiency
Disease
75233
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75233
Wolman disease
Clinical subtype
75234
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75234
Cholesteryl ester storage disease
Clinical subtype
329481
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329481
Lipoprotein glomerulopathy
Disease
309028
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309028
Disorder of lipid absorption and transport
Category
309031
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309031
Pancreatic triacylglycerol lipase deficiency
Disease
309108
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309108
Pancreatic colipase deficiency
Disease
309111
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309111
Combined pancreatic lipase-colipase deficiency
Disease
352301
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352301
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis
Category
352306
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352306
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
Category
615938
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615938
Spastic paraparesis-cataracts-speech delay syndrome
Clinical syndrome
506353
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506353
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
Disease
816
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=816
Sjögren-Larsson syndrome
Disease
139480
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139480
Autosomal recessive spastic paraplegia type 39
Disease
157850
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157850
Pantothenate kinase-associated neurodegeneration
Disease
216866
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216866
Classic pantothenate kinase-associated neurodegeneration
Clinical subtype
216873
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216873
Atypical pantothenate kinase-associated neurodegeneration
Clinical subtype
329303
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329303
PLA2G6-associated neurodegeneration
Clinical group
35069
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35069
Infantile neuroaxonal dystrophy
Disease
199351
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199351
Adult-onset dystonia-parkinsonism
Disease
329308
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329308
Fatty acid hydroxylase-associated neurodegeneration
Disease
352328
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352328
MEGDEL syndrome
Disease
352333
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352333
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Disease
370933
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370933
GM3 synthase deficiency
Disease
423296
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423296
Spinocerebellar ataxia type 38
Disease
424027
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424027
Progressive myoclonic epilepsy type 8
Disease
431361
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431361
Progressive encephalopathy with leukodystrophy due to DECR deficiency
Disease
352309
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352309
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement
Category
36386
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36386
Hereditary sensory and autonomic neuropathy type 1
Disease
171848
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171848
Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
Disease
352312
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352312
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
Category
1369
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1369
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Disease
111
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=111
Barth syndrome
Disease
165
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165
Neutral lipid storage disease
Clinical group
98907
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98907
Neutral lipid storage disease with ichthyosis
Disease
98908
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98908
Neutral lipid storage myopathy
Disease
565612
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565612
Primary triglyceride deposit cardiomyovasculopathy
Disease
99845
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99845
Genetic recurrent myoglobinuria
Disease
280671
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280671
Megaconial congenital muscular dystrophy
Disease
506334
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506334
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
Disease
309340
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309340
Disorder of lysosomal-related organelles
Category
167
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167
Chédiak-Higashi syndrome
Disease
2342
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2342
Haim-Munk syndrome
Disease
678
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=678
Papillon-Lefèvre syndrome
Disease
79430
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79430
Hermansky-Pudlak syndrome
Disease
183678
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183678
Hermansky-Pudlak syndrome due to AP-3 deficiency
Clinical subtype
231500
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231500
Hermansky-Pudlak syndrome due to BLOC-3 deficiency
Clinical subtype
231512
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231512
Hermansky-Pudlak syndrome due to BLOC-2 deficiency
Clinical subtype
231531
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231531
Hermansky-Pudlak syndrome due to BLOC-1 deficiency
Clinical subtype
309813
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309813
Disorder of porphyrin and heme metabolism
Category
738
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=738
Porphyria
Clinical group
79277
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79277
Congenital erythropoietic porphyria
Disease
79278
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79278
Autosomal erythropoietic protoporphyria
Disease
95157
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95157
Acute hepatic porphyria
Clinical group
79273
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79273
Hereditary coproporphyria
Disease
79276
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79276
Acute intermittent porphyria
Disease
79473
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79473
Porphyria variegata
Disease
100924
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100924
Porphyria due to ALA dehydratase deficiency
Disease
95161
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95161
Chronic hepatic porphyria
Clinical group
95159
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95159
Hepatoerythropoietic porphyria
Disease
101330
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101330
Porphyria cutanea tarda
Disease
443057
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443057
Sporadic porphyria cutanea tarda
Clinical subtype
443062
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443062
Familial porphyria cutanea tarda
Clinical subtype
280379
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280379
Erythropoietic uroporphyria associated with myeloid malignancy
Disease
443197
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443197
X-linked erythropoietic protoporphyria
Disease
75563
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75563
X-linked sideroblastic anemia
Disease
309816
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309816
Disorder of bilirubin metabolism and excretion
Category
205
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=205
Crigler-Najjar syndrome
Disease
79234
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79234
Crigler-Najjar syndrome type 1
Clinical subtype
79235
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79235
Crigler-Najjar syndrome type 2
Clinical subtype
234
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=234
Dubin-Johnson syndrome
Disease
3111
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3111
Rotor syndrome
Disease
172
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=172
Progressive familial intrahepatic cholestasis
Disease
79304
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79304
Progressive familial intrahepatic cholestasis type 2
Clinical subtype
79305
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79305
Progressive familial intrahepatic cholestasis type 3
Clinical subtype
79306
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79306
Progressive familial intrahepatic cholestasis type 1
Clinical subtype
480483
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480483
Progressive familial intrahepatic cholestasis type 4
Clinical subtype
480491
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480491
MYO5B-related progressive familial intrahepatic cholestasis
Clinical subtype
480476
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480476
Progressive familial intrahepatic cholestasis type 5
Clinical subtype
168583
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168583
Hereditary North American Indian childhood cirrhosis
Clinical subtype
2697
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2697
Arthrogryposis-renal dysfunction-cholestasis syndrome
Malformation syndrome
65682
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65682
Benign recurrent intrahepatic cholestasis
Disease
99960
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99960
Benign recurrent intrahepatic cholestasis type 1
Clinical subtype
99961
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99961
Benign recurrent intrahepatic cholestasis type 2
Clinical subtype
415286
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=415286
Bilirubin encephalopathy
Clinical group
529799
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529799
Acute bilirubin encephalopathy
Clinical syndrome
529808
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529808
Chronic bilirubin encephalopathy
Clinical syndrome
562509
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562509
Heme oxygenase-1 deficiency
Disease
309824
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309824
Disorder of metabolite absorption and transport
Category
309827
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309827
Disorder of vitamin and non-protein cofactor absorption and transport
Category
79171
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79171
Disorder of cobalamin metabolism and transport
Category
26
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26
Methylmalonic acidemia with homocystinuria
Disease
79282
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79282
Methylmalonic acidemia with homocystinuria, type cblC
Clinical subtype
79283
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79283
Methylmalonic acidemia with homocystinuria, type cblD
Clinical subtype
79284
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79284
Methylmalonic acidemia with homocystinuria type cblF
Clinical subtype
369955
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369955
Methylmalonic acidemia with homocystinuria, type cblJ
Clinical subtype
369962
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369962
Methylmalonic acidemia with homocystinuria, type cblX
Clinical subtype
859
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=859
Transcobalamin deficiency
Disease
28
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28
Vitamin B12-responsive methylmalonic acidemia
Disease
79310
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79310
Vitamin B12-responsive methylmalonic acidemia type cblA
Clinical subtype
79311
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79311
Vitamin B12-responsive methylmalonic acidemia type cblB
Clinical subtype
308442
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308442
Vitamin B12-responsive methylmalonic acidemia, type cblDv2
Clinical subtype
2967
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2967
Transcobalamin I deficiency
Disease
332
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=332
Congenital intrinsic factor deficiency
Disease
622
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622
Homocystinuria without methylmalonic aciduria
Disease
2169
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2169
Methylcobalamin deficiency type cblE
Clinical subtype
2170
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2170
Methylcobalamin deficiency type cblG
Clinical subtype
308380
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308380
Methylcobalamin deficiency type cblDv1
Clinical subtype
35858
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35858
Imerslund-Gräsbeck syndrome
Disease
280183
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280183
Methylmalonic aciduria due to transcobalamin receptor defect
Biological anomaly
285657
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=285657
Disorder of folate metabolism and transport
Category
597874
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597874
MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome
Disease
658813
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658813
Methylenetetrahydrofolate dehydrogenase 1 deficiency
Disease
395
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=395
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Disease
51208
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51208
Formiminoglutamic aciduria
Disease
90045
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90045
Hereditary folate malabsorption
Disease
217382
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217382
Neurodegenerative syndrome due to cerebral folate transport deficiency
Disease
319651
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319651
Constitutional megaloblastic anemia with severe neurologic disease
Disease
298644
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298644
Disorder of thiamine metabolism and transport
Category
217396
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217396
Progressive polyneuropathy with bilateral striatal necrosis
Disease
49827
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49827
Thiamine-responsive megaloblastic anemia syndrome
Disease
65284
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65284
Biotin-thiamine-responsive basal ganglia disease
Disease
199348
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199348
Thiamine-responsive encephalopathy
Disease
263410
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263410
Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
Disease
293955
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293955
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Disease
99742
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99742
Amish lethal microcephaly
Malformation syndrome
309833
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309833
Disorder of other vitamins and cofactors metabolism and transport
Category
96
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96
Ataxia with vitamin E deficiency
Disease
79096
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79096
Pyridoxal phosphate-responsive seizures
Disease
79241
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79241
Biotinidase deficiency
Disease
98434
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98434
Hereditary combined deficiency of vitamin K-dependent clotting factors
Disease
99732
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99732
Sulfite oxidase deficiency due to molybdenum cofactor deficiency
Clinical subtype
308386
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308386
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Etiological subtype
308393
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308393
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Etiological subtype
308400
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308400
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Etiological subtype
157850
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157850
Pantothenate kinase-associated neurodegeneration
Disease
216866
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216866
Classic pantothenate kinase-associated neurodegeneration
Clinical subtype
216873
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216873
Atypical pantothenate kinase-associated neurodegeneration
Clinical subtype
199285
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199285
Hereditary hypercarotenemia and vitamin A deficiency
Disease
352718
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352718
Progressive retinal dystrophy due to retinol transport defect
Disease
411712
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411712
Maternal riboflavin deficiency
Disease
309836
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309836
Disorder of mineral absorption and transport
Category
309839
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309839
Disorder of copper metabolism
Category
905
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=905
Wilson disease
Disease
565
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565
Menkes disease
Disease
1551
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1551
Familial benign copper deficiency
Disease
198
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=198
Occipital horn syndrome
Disease
171851
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171851
MEDNIK syndrome
Disease
521411
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521411
Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
Disease
309842
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309842
Disorder of iron metabolism and transport
Category
446
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=446
Neonatal hemochromatosis
Disease
1195
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1195
Congenital atransferrinemia
Disease
48818
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48818
Aceruloplasminemia
Disease
83642
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83642
Microcytic anemia with liver iron overload
Disease
139507
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139507
Dietary iron overload disease
Disease
157846
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157846
Neuroferritinopathy
Disease
220489
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220489
Rare hereditary hemochromatosis
Category
465508
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=465508
Symptomatic form of HFE-related hemochromatosis
Disease
648569
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648569
Non-HFE-related hemochromatosis
Clinical group
225123
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225123
TFR2-related hemochromatosis
Disease
647834
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647834
SLC40A1-related hemochromatosis
Disease
79230
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79230
HJV or HAMP-related hemochromatosis
Disease
648581
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648581
Digenic hemochromatosis
Disease
247790
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247790
FTH1-related iron overload
Disease
648562
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648562
Ferroportin disease
Disease
309845
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309845
Disorder of zinc metabolism and transport
Category
505242
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505242
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
Disease
37
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37
Acrodermatitis enteropathica
Disease
251523
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251523
Hyperzincemia and hypercalprotectinemia
Disease
309848
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309848
Disorder of magnesium transport
Category
30924
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30924
Primary hypomagnesemia with secondary hypocalcemia
Disease
34528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34528
Autosomal dominant primary hypomagnesemia with hypocalciuria
Disease
199326
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199326
Isolated autosomal dominant hypomagnesemia, Glaudemans type
Disease
564178
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564178
Primary hypomagnesemia-refractory seizures-intellectual disability syndrome
Disease
620363
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620363
Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome
Disease
620368
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620368
EGF-related primary hypomagnesemia with intellectual disability
Disease
306516
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306516
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis
Disease
2196
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2196
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
Clinical subtype
31043
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31043
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
Clinical subtype
309851
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309851
Disorder of manganese transport
Category
309854
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309854
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
Disease
468699
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468699
SLC39A8-CDG
Disease
521406
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521406
Dystonia-parkinsonism-hypermanganesemia syndrome
Disease