MCID: GYR003
MIFTS: 43

Gyrate Atrophy of Choroid and Retina with or Without Ornithinemia

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases

Aliases & Classifications for Gyrate Atrophy of Choroid and Retina with or Without...

MalaCards integrated aliases for Gyrate Atrophy of Choroid and Retina with or Without Ornithinemia:

Name: Gyrate Atrophy of Choroid and Retina with or Without Ornithinemia 54 13 38
Gyrate Atrophy 12 50 25 71 52 42 14 69
Ornithine Aminotransferase Deficiency 50 24 25 56 71 29 52
Hyperornithinemia with Gyrate Atrophy of Choroid and Retina 50 24 25 71
Hyperornithinemia 50 56 29 69
Hoga 50 25 56 71
Gyrate Atrophy of Choroid and Retina 50 56 71
Oat Deficiency 50 25 71
Okt Deficiency 50 25 71
Hyperornithinemia-Gyrate Atrophy of Choroid and Retina Syndrome 50 56
Ornithine Keto Acid Aminotransferase Deficiency 25 71
Fuchs Atrophia Gyrata Chorioideae Et Retinae 50 69
Ornithine-Delta-Aminotransferase Deficiency 25 71
Ornithinemia with Gyrate Atrophy 12 25
Ornithine Ketoacid Aminotransferase Deficiency 50
Gyrate Atrophy of the Choroid and/or Retina 12
Gyrate Atrophy of the Choroid and Retina 25
Gyrate Atrophy of the Retina 12
Girate Atrophy of the Retina 50
Ornithine Aminotransferase 13
Gacr 71

Characteristics:

Orphanet epidemiological data:

56
gyrate atrophy of choroid and retina
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: normal life expectancy,stillbirth;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
visual symptoms present by late childhood


HPO:

32
gyrate atrophy of choroid and retina with or without ornithinemia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 258870
Disease Ontology 12 DOID:1415
MeSH 42 D015799
NCIt 47 C84744
Orphanet 56 ORPHA414
UMLS via Orphanet 70 C0599035 C0018425
MESH via Orphanet 43 C537132
ICD10 via Orphanet 34 E72.4
MedGen 40 C0599035
UMLS 69 C0018425

Summaries for Gyrate Atrophy of Choroid and Retina with or Without...

NIH Rare Diseases : 50 gyrate atrophy of the choroid and retina is an inherited disorder of protein metabolism characterized by progressive vision loss. symptoms such as nearsightedness (myopia), difficulty seeing in low light (night blindness), and loss of side (peripheral) vision develop during childhood. over time, the field of vision progressively narrows, resulting in tunnel vision. cataracts may also develop. these vision changes may lead to blindness by about the age of 50. while most people with gyrate atrophy of the choroid and retina have no symptoms other than vision loss, neonatal hyperammonemia (excess ammonia in the blood in the newborn period), neurological abnormalities, intellectual disability, peripheral nerve problems, and muscle weakness may occur. this condition is caused by mutations in the oat gene and is inherited in an autosomal recessive manner. treatment may include dietary supplements and/or a specialized diet. last updated: 1/9/2017

MalaCards based summary : Gyrate Atrophy of Choroid and Retina with or Without Ornithinemia, also known as gyrate atrophy, is related to cystinuria and hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, and has symptoms including myopia, nyctalopia and blindness. An important gene associated with Gyrate Atrophy of Choroid and Retina with or Without Ornithinemia is OAT (Ornithine Aminotransferase), and among its related pathways/superpathways are Amino Acid metabolism and Arginine and proline metabolism. The drugs Ornithine and Pyridoxal have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and skeletal muscle, and related phenotype is Increased shRNA abundance (Z-score > 2).

UniProtKB/Swiss-Prot : 71 Hyperornithinemia with gyrate atrophy of choroid and retina: A disorder clinically characterized by a triad of progressive chorioretinal degeneration, early cataract formation, and type II muscle fiber atrophy. Characteristic chorioretinal atrophy with progressive constriction of the visual fields leads to blindness at the latest during the sixth decade of life. Patients generally have normal intelligence.

Genetics Home Reference : 25 Gyrate atrophy of the choroid and retina, which is often shortened to gyrate atrophy, is an inherited disorder characterized by progressive vision loss. People with this disorder have an ongoing loss of cells (atrophy) in the retina, which is the specialized light-sensitive tissue that lines the back of the eye, and in a nearby tissue layer called the choroid. During childhood, they begin experiencing nearsightedness (myopia), difficulty seeing in low light (night blindness), and loss of side (peripheral) vision. Over time, their field of vision continues to narrow, resulting in tunnel vision. Many people with gyrate atrophy also develop clouding of the lens of the eyes (cataracts). These progressive vision changes lead to blindness by about the age of 50.

OMIM : 54
Gyrate atrophy of the choroid and retina due to deficiency of ornithine aminotransferase is clinically characterized by a triad of progressive chorioretinal degeneration, early cataract formation, and type II muscle fiber atrophy. Characteristic chorioretinal atrophy with progressive constriction of the visual fields leads to blindness at the latest during the sixth decade of life. Patients generally have normal intelligence (summary by Peltola et al., 2002). See 238970 for another hyperornithinemia syndrome. (258870)

Related Diseases for Gyrate Atrophy of Choroid and Retina with or Without...

Diseases related to Gyrate Atrophy of Choroid and Retina with or Without Ornithinemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
id Related Disease Score Top Affiliating Genes
1 cystinuria 29.4 OAT SLC6A18
2 hyperornithinemia-hyperammonemia-homocitrullinemia syndrome 12.3
3 choroiditis 10.8
4 retinitis 10.3
5 retinal degeneration 10.0
6 myopathy 10.0
7 cataract 10.0
8 histiocytic and dendritic cell cancer 9.9 OAT ROM1
9 spastic paraplegia 24, autosomal recessive 9.9 OAT SLC25A15
10 myopia 9.9
11 retinal detachment 9.9
12 retinitis pigmentosa 9.9
13 porencephaly 9.7
14 thyroiditis 9.7
15 macular holes 9.7
16 osteoporosis 9.7
17 hereditary retinal dystrophy 9.7
18 chorioretinitis 9.7
19 lysinuric protein intolerance 9.7
20 muscular dystrophy 9.7
21 choroideremia 9.7
22 ornithinemia 9.7
23 keratoconus 9.7
24 congenital hypogammaglobulinemia 8.5 DXO OAT PYCR1 SLC6A18
25 hypogonadotropic hypogonadism 14 with or without anosmia 7.5 DXO OAT PYCR1 ROM1 SLC25A15 SLC6A18

Graphical network of the top 20 diseases related to Gyrate Atrophy of Choroid and Retina with or Without Ornithinemia:



Diseases related to Gyrate Atrophy of Choroid and Retina with or Without Ornithinemia

Symptoms & Phenotypes for Gyrate Atrophy of Choroid and Retina with or Without...

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
progressive chorioretinal degeneration
myopia (onset in first decade)
night blindness (onset in first decade)
progressive loss of peripheral vision (onset in first decade)
blindness (onset in fourth or fifth decade)
more
Laboratory- Abnormalities:
elevated plasma ornithine (~10-fold)
ornithine-delta-aminotransferase (oat) deficiency
plasma ammonia not elevated
elevated urinary ornithine, lysine, arginine
decreased plasma lysine, glutamic acid, and glutamine

Muscle Soft Tissue:
mild proximal muscle weakness (<10% of patients)
tubular aggregates in type 2 skeletal muscle fibers
abnormal emg


Clinical features from OMIM:

258870

Human phenotypes related to Gyrate Atrophy of Choroid and Retina with or Without Ornithinemia:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 myopia 32 HP:0000545
2 nyctalopia 32 HP:0000662
3 blindness 32 HP:0000618
4 posterior subcapsular cataract 32 HP:0007787
5 proximal muscle weakness 32 HP:0003701
6 chorioretinal atrophy 32 HP:0000533
7 abnormality of metabolism/homeostasis 32 HP:0001939
8 emg abnormality 32 HP:0003457

GenomeRNAi Phenotypes related to Gyrate Atrophy of Choroid and Retina with or Without Ornithinemia according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.5 SLC25A15 SLC6A18
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.5 SLC6A18
3 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.5 SLC25A15
4 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.5 SLC6A18
5 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.5 SLC25A15
6 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.5 SLC6A18
7 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.5 SLC6A18
8 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.5 SLC6A18
9 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.5 SLC25A15 SLC6A18
10 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.5 SLC25A15
11 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.5 SLC6A18
12 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.5 SLC25A15
13 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.5 SLC25A15

Drugs & Therapeutics for Gyrate Atrophy of Choroid and Retina with or Without...

Drugs for Gyrate Atrophy of Choroid and Retina with or Without Ornithinemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ornithine Approved, Nutraceutical 70-26-8, 3184-13-2 6262 389
2
Pyridoxal Approved, Nutraceutical 66-72-8 1050
3
Pyridoxine Approved, Nutraceutical, Vet_approved 65-23-6 1054
4 Vitamin B 6
5 arginine Nutraceutical
6
Pyridoxal Phosphate Nutraceutical 54-47-7 1051

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Gyrate Atrophy of the Choroid and Retina Completed NCT00001166

Search NIH Clinical Center for Gyrate Atrophy of Choroid and Retina with or Without Ornithinemia

Cochrane evidence based reviews: gyrate atrophy

Genetic Tests for Gyrate Atrophy of Choroid and Retina with or Without...

Genetic tests related to Gyrate Atrophy of Choroid and Retina with or Without Ornithinemia:

id Genetic test Affiliating Genes
1 Ornithine Aminotransferase Deficiency 29 24 OAT
2 Hyperornithinemia 29

Anatomical Context for Gyrate Atrophy of Choroid and Retina with or Without...

MalaCards organs/tissues related to Gyrate Atrophy of Choroid and Retina with or Without Ornithinemia:

39
Retina, Eye, Skeletal Muscle

Publications for Gyrate Atrophy of Choroid and Retina with or Without...

Variations for Gyrate Atrophy of Choroid and Retina with or Without...

UniProtKB/Swiss-Prot genetic disease variations for Gyrate Atrophy of Choroid and Retina with or Without Ornithinemia:

71 (show all 28)
id Symbol AA change Variation ID SNP ID
1 OAT p.Asn54Lys VAR_000565 rs121965048
2 OAT p.Tyr55His VAR_000566 rs121965037
3 OAT p.Asn89Lys VAR_000567 rs386833602
4 OAT p.Cys93Phe VAR_000568 rs121965038
5 OAT p.Arg154Leu VAR_000569 rs121965039
6 OAT p.Arg180Thr VAR_000570 rs121965040
7 OAT p.Ala226Val VAR_000572 rs121965059
8 OAT p.Pro241Leu VAR_000573 rs121965051
9 OAT p.Tyr245Cys VAR_000574 rs121965046
10 OAT p.Arg250Pro VAR_000575 rs121965052
11 OAT p.Thr267Ile VAR_000576 rs386833618
12 OAT p.Ala270Pro VAR_000577 rs121965041
13 OAT p.Arg271Lys VAR_000578 rs121965042
14 OAT p.His319Tyr VAR_000579 rs121965049
15 OAT p.Val332Met VAR_000580 rs121965047
16 OAT p.Gly353Asp VAR_000581 rs121965053
17 OAT p.Gly375Ala VAR_000582 rs121965045
18 OAT p.Cys394Arg VAR_000583 rs121965054
19 OAT p.Leu402Pro VAR_000584 rs121965043
20 OAT p.Pro417Leu VAR_000585 rs121965044
21 OAT p.Leu437Phe VAR_000586 rs1800456
22 OAT p.Gln90Glu VAR_015648 rs121965060
23 OAT p.Gly51Asp VAR_071924 rs11553554
24 OAT p.Gln104Arg VAR_071925 rs386833604
25 OAT p.Pro199Gln VAR_071926 rs267606925
26 OAT p.Glu318Lys VAR_071927 rs386833621
27 OAT p.Cys394Tyr VAR_071928 rs386833597
28 OAT p.Ile436Asn VAR_071929 rs386833598

ClinVar genetic disease variations for Gyrate Atrophy of Choroid and Retina with or Without Ornithinemia:

6 (show top 50) (show all 61)
id Gene Variation Type Significance SNP ID Assembly Location
1 OAT NM_000274.3(OAT): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs121965034 GRCh37 Chromosome 10, 126100738: 126100738
2 OAT NM_000274.3(OAT): c.159delC (p.His53Glnfs) deletion Pathogenic/Likely pathogenic rs386833599 GRCh37 Chromosome 10, 126100582: 126100582
3 OAT NM_000274.3(OAT): c.550_552delGCT (p.Ala184del) deletion Pathogenic rs121965035 GRCh37 Chromosome 10, 126094101: 126094103
4 OAT NM_000274.3(OAT): c.1186C> T (p.Arg396Ter) single nucleotide variant Pathogenic rs121965036 GRCh37 Chromosome 10, 126086645: 126086645
5 OAT NM_000274.3(OAT): c.163T> C (p.Tyr55His) single nucleotide variant Pathogenic rs121965037 GRCh37 Chromosome 10, 126100578: 126100578
6 OAT NM_000274.3(OAT): c.278G> T (p.Cys93Phe) single nucleotide variant Pathogenic rs121965038 GRCh37 Chromosome 10, 126097456: 126097456
7 OAT NM_000274.3(OAT): c.461G> T (p.Arg154Leu) single nucleotide variant Pathogenic rs121965039 GRCh37 Chromosome 10, 126097170: 126097170
8 OAT NM_000274.3(OAT): c.539G> C (p.Arg180Thr) single nucleotide variant Pathogenic rs121965040 GRCh37 Chromosome 10, 126094114: 126094114
9 OAT NM_000274.3(OAT): c.808G> C (p.Ala270Pro) single nucleotide variant Pathogenic rs121965041 GRCh37 Chromosome 10, 126091588: 126091588
10 OAT NM_000274.3(OAT): c.812G> A (p.Arg271Lys) single nucleotide variant Pathogenic rs121965042 GRCh37 Chromosome 10, 126091584: 126091584
11 OAT NM_000274.3(OAT): c.1205T> C (p.Leu402Pro) single nucleotide variant Pathogenic rs121965043 GRCh37 Chromosome 10, 126086626: 126086626
12 OAT NM_000274.3(OAT): c.1250C> T (p.Pro417Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121965044 GRCh37 Chromosome 10, 126086581: 126086581
13 OAT NM_000274.3(OAT): c.1124G> C (p.Gly375Ala) single nucleotide variant Pathogenic rs121965045 GRCh37 Chromosome 10, 126089444: 126089444
14 OAT NM_000274.3(OAT): c.734A> G (p.Tyr245Cys) single nucleotide variant Pathogenic rs121965046 GRCh37 Chromosome 10, 126092404: 126092404
15 OAT NM_000274.3(OAT): c.994G> A (p.Val332Met) single nucleotide variant Pathogenic/Likely pathogenic rs121965047 GRCh37 Chromosome 10, 126090315: 126090315
16 OAT NM_000274.3(OAT): c.162C> A (p.Asn54Lys) single nucleotide variant Pathogenic rs121965048 GRCh37 Chromosome 10, 126100579: 126100579
17 OAT NM_000274.3(OAT): c.955C> T (p.His319Tyr) single nucleotide variant Pathogenic rs121965049 GRCh37 Chromosome 10, 126090354: 126090354
18 OAT NM_000274.3(OAT): c.425_520del (p.Gly142_Ala173del) deletion Pathogenic/Likely pathogenic rs386833609 GRCh38 Chromosome 10, 124408634: 124408642
19 OAT OAT, ALU INS insertion Pathogenic
20 OAT NM_000274.3(OAT): c.550G> A (p.Ala184Thr) single nucleotide variant Pathogenic rs121965050 GRCh37 Chromosome 10, 126094103: 126094103
21 OAT NM_000274.3(OAT): c.722C> T (p.Pro241Leu) single nucleotide variant Pathogenic rs121965051 GRCh37 Chromosome 10, 126092416: 126092416
22 OAT NM_000274.3(OAT): c.749G> C (p.Arg250Pro) single nucleotide variant Pathogenic rs121965052 GRCh37 Chromosome 10, 126092389: 126092389
23 OAT NM_000274.3(OAT): c.1058G> A (p.Gly353Asp) single nucleotide variant Pathogenic rs121965053 GRCh37 Chromosome 10, 126089510: 126089510
24 OAT NM_000274.3(OAT): c.1172G> A (p.Trp391Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833596 GRCh37 Chromosome 10, 126086659: 126086659
25 OAT NM_000274.3(OAT): c.1180T> C (p.Cys394Arg) single nucleotide variant Pathogenic rs121965054 GRCh37 Chromosome 10, 126086651: 126086651
26 OAT NM_000274.3(OAT): c.1201G> T (p.Gly401Ter) single nucleotide variant Pathogenic rs121965055 GRCh37 Chromosome 10, 126086630: 126086630
27 OAT NG_008861.1: g.(18210_19215)_(19282_19287)del deletion Pathogenic GRCh38 Chromosome 10, 124404664: 124405741
28 OAT NM_000274.3(OAT): c.627T> A (p.Tyr209Ter) single nucleotide variant Pathogenic rs121965056 GRCh37 Chromosome 10, 126094026: 126094026
29 OAT NM_000274.3(OAT): c.897C> G (p.Tyr299Ter) single nucleotide variant Pathogenic rs121965057 GRCh37 Chromosome 10, 126091499: 126091499
30 OAT NM_000274.3(OAT): c.1276C> T (p.Arg426Ter) single nucleotide variant Pathogenic rs121965058 GRCh37 Chromosome 10, 126086555: 126086555
31 OAT NM_000274.3(OAT): c.533G> A (p.Trp178Ter) single nucleotide variant Pathogenic rs267606923 GRCh37 Chromosome 10, 126094120: 126094120
32 OAT NM_000274.3(OAT): c.824G> A (p.Trp275Ter) single nucleotide variant Pathogenic rs267606924 GRCh37 Chromosome 10, 126091572: 126091572
33 OAT NM_000274.3(OAT): c.268C> G (p.Gln90Glu) single nucleotide variant Pathogenic rs121965060 GRCh37 Chromosome 10, 126097466: 126097466
34 OAT NM_000274.3(OAT): c.596C> A (p.Pro199Gln) single nucleotide variant Pathogenic rs267606925 GRCh37 Chromosome 10, 126094057: 126094057
35 OAT NM_000274.3(OAT): c.1031delA (p.Asn344Thrfs) deletion Likely pathogenic rs386833594 GRCh37 Chromosome 10, 126089537: 126089537
36 OAT NM_000274.3(OAT): c.1118G> A (p.Gly373Glu) single nucleotide variant Likely pathogenic rs386833595 GRCh37 Chromosome 10, 126089450: 126089450
37 OAT NM_000274.3(OAT): c.1181G> A (p.Cys394Tyr) single nucleotide variant Likely pathogenic rs386833597 GRCh37 Chromosome 10, 126086650: 126086650
38 OAT NM_000274.3(OAT): c.1307T> A (p.Ile436Asn) single nucleotide variant Likely pathogenic rs386833598 GRCh37 Chromosome 10, 126086524: 126086524
39 OAT NM_000274.3(OAT): c.1311G> T (p.Leu437Phe) single nucleotide variant Likely pathogenic rs1800456 GRCh37 Chromosome 10, 126086520: 126086520
40 OAT NM_000274.3(OAT): c.199+303C> G single nucleotide variant Likely pathogenic rs386833601 GRCh37 Chromosome 10, 126100239: 126100239
41 OAT NM_000274.3(OAT): c.267C> A (p.Asn89Lys) single nucleotide variant Likely pathogenic rs386833602 GRCh37 Chromosome 10, 126097467: 126097467
42 OAT NM_000274.3(OAT): c.272G> A (p.Gly91Glu) single nucleotide variant Likely pathogenic rs386833603 GRCh37 Chromosome 10, 126097462: 126097462
43 OAT NM_000274.3(OAT): c.311A> G (p.Gln104Arg) single nucleotide variant Likely pathogenic rs386833604 GRCh37 Chromosome 10, 126097423: 126097423
44 OAT NM_000274.3(OAT): c.362G> A (p.Gly121Asp) single nucleotide variant Likely pathogenic rs386833605 GRCh37 Chromosome 10, 126097372: 126097372
45 OAT NM_000274.3(OAT): c.373_375delGAG (p.Glu125del) deletion Likely pathogenic rs386833606 GRCh37 Chromosome 10, 126097359: 126097361
46 OAT NM_000274.3(OAT): c.381dupT (p.Thr128Tyrfs) duplication Likely pathogenic rs386833607 GRCh37 Chromosome 10, 126097353: 126097353
47 OAT NM_000274.3(OAT): c.425-2A> G single nucleotide variant Likely pathogenic rs386833608 GRCh37 Chromosome 10, 126097208: 126097208
48 OAT NM_000274.3(OAT): c.425G> A (p.Gly142Glu) single nucleotide variant Likely pathogenic rs386833610 GRCh37 Chromosome 10, 126097206: 126097206
49 OAT NM_000274.3(OAT): c.472_486delTATACCGTGAAGGGC (p.Tyr158_Gly162del) deletion Likely pathogenic rs386833611 GRCh37 Chromosome 10, 126097145: 126097159
50 OAT NM_000274.3(OAT): c.532_536delTGGGG (p.Trp178Terfs) deletion Likely pathogenic rs386833612 GRCh37 Chromosome 10, 126094117: 126094121

Expression for Gyrate Atrophy of Choroid and Retina with or Without...

Search GEO for disease gene expression data for Gyrate Atrophy of Choroid and Retina with or Without Ornithinemia.

Pathways for Gyrate Atrophy of Choroid and Retina with or Without...

Pathways related to Gyrate Atrophy of Choroid and Retina with or Without Ornithinemia according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.22 OAT PYCR1
2
Show member pathways
10.91 OAT PYCR1
3
Show member pathways
10.57 OAT PYCR1
4
Show member pathways
10 OAT PYCR1

GO Terms for Gyrate Atrophy of Choroid and Retina with or Without...

Biological processes related to Gyrate Atrophy of Choroid and Retina with or Without Ornithinemia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.16 OAT ROM1
2 cellular amino acid biosynthetic process GO:0008652 8.96 OAT PYCR1
3 L-proline biosynthetic process GO:0055129 8.62 OAT PYCR1

Sources for Gyrate Atrophy of Choroid and Retina with or Without...

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11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
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34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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42 MeSH
43 MESH via Orphanet
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