MCID: OGC005
MIFTS: 38

Oguchi Disease

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Oguchi Disease

MalaCards integrated aliases for Oguchi Disease:

Name: Oguchi Disease 53 59
Oguchi's Disease 29 6
Congenital Stationary Night Blindness, Oguchi Type 59
Stationary Night Blindness, Oguchi Type 53
Oguchi Syndrome 59
Oguchis Disease 55

Characteristics:

Orphanet epidemiological data:

59
oguchi disease
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

Orphanet 59 ORPHA75382
MESH via Orphanet 45 C537743
UMLS via Orphanet 74 C1306122
ICD10 via Orphanet 34 H53.6

Summaries for Oguchi Disease

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 75382Disease definitionOguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon.EpidemiologyOguchi disease is a very rare condition with approximately 50 cases described in the literature to date. It was originally discovered in Japan where the prevalence is the highest but has been found occasionally in European, American, Pakistani and Indian patients.Clinical descriptionThe disease is characterized by congenital stationary night blindness and the Mizuo-Nakamura phenomenon which is a unique morphological and functional abnormality of the retina that presents with a typical golden-yellow or silver-gray discoloration of the fundus in the presence of light that disappears after dark-adaptation and appears again after the onset of light. Patients have non progressive night blindness since young childhood with normal day vision, but they often claim improvement of light sensitivities when they remain a long time in a dark environment. Eye fundus shows the Mizuo-Nakamura phenomenon as the only fundus feature. A prolonged dark adaptation of 3 hours or more leads to disappearance of the Mizuo-Nakamura phenomenon fundus changes. No evidence of spicules, macular changes or chorioretinal atrophy is observed. Normal visual acuity, normal caliber of retinal blood vessels and usually normal cone response on electroretinogram (ERG) recording suggest retinal dysfunction rather than degeneration.EtiologyOguchi disease is caused by mutations in the SAG gene coding for arrestin located on chromosome 2q37(Oguchi type 1) or by mutations in the GRK1 gene that codes for the rhodopsin kinase located on the chromosome 13q34 (Oguchi type 2). Remarkably, some mutations in the SAG gene are associated with Oguchi disease and retinitis pigmentosa (RP) in the same family. Some mutations in SAG lead to RP.Diagnostic methodsThe diagnosis is clinical and is based on the presence of night blindness and the observation of the Mizuo-Nakamura phenomenon by funduscopy and electroretinography (ERG). The clinical diagnosis is confirmed by genetic testing.Differential diagnosisThe differential diagnosis includes Stargardt disease, RP in female carriers, juvenile retinoschisis, and progressive cone dystrophy (see these terms). All these conditions may have fundus changes but without the classical Mizuo-Nakamura phenomenon.Genetic counselingOguchi disease is an autosomal recessive condition. Brothers and sisters of an affected case have a 25% risk to be also affected.Management and treatmentTo date, there is not a specific treatment for Oguchi disease.PrognosisIn Oguchi disease the visual prognosis is good in absence of progression of symptoms. Although Oguchi disease is categorized as a stationary condition it can lead to reduced visual acuity or constricted visual fields, especially in older patients.Visit the Orphanet disease page for more resources.

MalaCards based summary : Oguchi Disease, also known as oguchi's disease, is related to congenital stationary night blindness and retinitis pigmentosa. An important gene associated with Oguchi Disease is SAG (S-Antigen Visual Arrestin), and among its related pathways/superpathways are Signaling by GPCR and Metabolism of fat-soluble vitamins. Affiliated tissues include eye, retina and pineal, and related phenotypes are Decreased viability in esophageal squamous lineage and nervous system

Wikipedia : 76 Oguchi disease, also called congenital stationary night blindness, Oguchi type 1 or Oguchi disease 1, is... more...

Related Diseases for Oguchi Disease

Diseases in the Oguchi Disease family:

Oguchi Disease 1 Oguchi Disease 2

Diseases related to Oguchi Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 congenital stationary night blindness 30.6 CACNA1F GNAT1 GRK1 GRM6 NYX PDE6B
2 retinitis pigmentosa 28.7 CACNA1F GNAT1 GRK1 NYX PDE6B RDH5
3 night blindness 28.4 CACNA1F GNAT1 GRK1 GRM6 NYX PDE6B
4 oguchi disease 1 12.6
5 oguchi disease 2 12.5
6 leber congenital amaurosis 4 10.2
7 retinitis 10.2
8 melanoma-associated retinopathy 10.1 RHO SAG
9 pineocytoma 10.1 RHO SAG
10 bardet-biedl syndrome 5 10.1 RHO SAG
11 cancer-associated retinopathy 10.1 RHO SAG
12 autoimmune disease of eyes, ear, nose and throat 10.1 RHO SAG
13 x-linked congenital stationary night blindness 10.1 CACNA1F NYX
14 usher syndrome, type iid 10.1 GRK1 RHO
15 pineal parenchymal tumor of intermediate differentiation 10.1 RHO SAG
16 night blindness, congenital stationary, type 2a 10.1 CACNA1F NYX
17 night blindness, congenital stationary, type 1e 10.1 CACNA1F NYX
18 night blindness, congenital stationary, type 1b 10.0 GRM6 NYX
19 prolonged electroretinal response suppression 10.0 GRK1 RDH5
20 aland island eye disease 10.0 CACNA1F NYX
21 night blindness, congenital stationary, type 1a 10.0 NYX RHO
22 autosomal recessive congenital stationary night blindness 10.0 GNAT1 GRM6
23 achromatopsia 3 10.0 CACNA1F NYX
24 retinitis pigmentosa 19 9.9 PDE6B RHO
25 retinitis pigmentosa 43 9.9 PDE6B RHO
26 achromatopsia 9.9 CACNA1F NYX
27 retinal degeneration 9.8 PDE6B RHO SAG
28 autosomal dominant congenital stationary night blindness 9.7 GNAT1 PDE6B RHO
29 fundus dystrophy 9.7 GRK1 PDE6B RDH5 RHO
30 leber congenital amaurosis 9.6 GRK1 PDE6B RHO
31 myopia 9.5 CACNA1F GNAT1 GRM6 NYX RHO
32 retinal disease 9.3 CACNA1F GRM6 NYX PDE6B RHO SAG
33 fundus albipunctatus 9.2 CACNA1F GNAT1 GRK1 PDE6B RDH5 RHO

Graphical network of the top 20 diseases related to Oguchi Disease:



Diseases related to Oguchi Disease

Symptoms & Phenotypes for Oguchi Disease

GenomeRNAi Phenotypes related to Oguchi Disease according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 9.1 GNAT1 NYX PDE6B RDH5 RHO SAG

MGI Mouse Phenotypes related to Oguchi Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.5 CACNA1F GNAT1 GRK1 GRM6 PDE6B RHO
2 vision/eye MP:0005391 9.28 CACNA1F GNAT1 GRK1 GRM6 NYX PDE6B

Drugs & Therapeutics for Oguchi Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940

Search NIH Clinical Center for Oguchi Disease

Genetic Tests for Oguchi Disease

Genetic tests related to Oguchi Disease:

# Genetic test Affiliating Genes
1 Oguchi's Disease 29 SAG

Anatomical Context for Oguchi Disease

MalaCards organs/tissues related to Oguchi Disease:

41
Eye, Retina, Pineal

Publications for Oguchi Disease

Articles related to Oguchi Disease:

(show all 47)
# Title Authors Year
1
A novel GRK1 mutation in an Italian patient with Oguchi disease. ( 28511019 )
2018
2
A novel missense mutation of the GRK1 gene in Oguchi disease. ( 27511724 )
2016
3
The first case of Oguchi disease, type 2 in a Polish patient with confirmed GRK1 gene mutation. ( 26349155 )
2015
4
Association of Retinal Artery and Other Inner Retinal Structures With Distribution of Tapetal-like Reflex in Oguchi's Disease. ( 25744976 )
2015
5
Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease. ( 22959359 )
2012
6
A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease. ( 22665972 )
2012
7
A Chinese family with Oguchi's disease due to compound heterozygosity including a novel deletion in the arrestin gene. ( 22419846 )
2012
8
Oguchi disease with unusual findings associated with a heterozygous mutation in the SAG gene. ( 21987685 )
2011
9
Macular Dysfunction in Oguchi Disease with the Frequent Mutation 1147delA in the SAG Gene. ( 21447990 )
2011
10
Spectral-domain optical coherence tomography findings in the Mizuo-Nakamura phenomenon of Oguchi disease. ( 21336075 )
2011
11
Mizuo-Nakamura phenomenon in Oguchi disease due to a homozygous nonsense mutation in the SAG gene. ( 21494281 )
2011
12
Oguchi disease masked by retinitis pigmentosa. ( 21922265 )
2011
13
A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family. ( 19753316 )
2009
14
Shortening of the rod outer segment in Oguchi disease. ( 19513740 )
2009
15
Optical coherence tomographic evaluation of the outer retinal architecture in Oguchi disease. ( 19847595 )
2009
16
Novel mutations in the GRK1 gene in Japanese patients With Oguchi disease. ( 17765441 )
2007
17
A novel homozygous GRK1 mutation (P391H) in 2 siblings with Oguchi disease with markedly reduced cone responses. ( 17070587 )
2007
18
A case of Oguchi's disease with diabetic retinopathy. ( 17894693 )
2007
19
Oguchi disease. ( 16679684 )
2006
20
A variant form of Oguchi disease mapped to 13q34 associated with partial deletion of GRK1 gene. ( 16319817 )
2005
21
Novel mutations in the arrestin gene and associated clinical features in Japanese patients with Oguchi's disease. ( 15234147 )
2004
22
ERG rod a-wave in Oguchi disease. ( 14680778 )
2004
23
Gene analysis and evaluation of the single founder effect in Japanese patients with Oguchi disease. ( 15295660 )
2004
24
Mizuo phenomenon observed by scanning laser ophthalmoscopy in a patient with Oguchi disease. ( 11020420 )
2000
25
Increased susceptibility to light damage in an arrestin knockout mouse model of Oguchi disease (stationary night blindness) ( 10549660 )
1999
26
1147 del A mutation in the arrestin gene in Japanese patients with Oguchi disease. ( 10420197 )
1999
27
Two Indian siblings with Oguchi disease are homozygous for an arrestin mutation encoding premature termination. ( 9452120 )
1998
28
A case of a combination of Oguchi's disease and congenital retinoschisis. ( 9693296 )
1998
29
Oguchi disease with sectoral retinitis pigmentosa harboring adenine deletion at position 1147 in the arrestin gene. ( 9467455 )
1998
30
Visual function and gene analysis in a family with Oguchi's disease. ( 9731122 )
1998
31
Normal S cone electroretinogram b-wave in Oguchi's disease. ( 9497461 )
1997
32
Oguchi disease: phenotypic characteristics of patients with the frequent 1147delA mutation in the arrestin gene. ( 9051837 )
1997
33
The Mizuo phenomenon in Oguchi disease. ( 9109775 )
1997
34
Electrophysiological findings in patients with Oguchi's disease. ( 9130055 )
1996
35
A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. ( 7670478 )
1995
36
Oguchi disease: suggestion of linkage to markers on chromosome 2q. ( 7616550 )
1995
37
Genetic heterogeneity of Oguchi's disease. ( 2086477 )
1990
38
Oguchi's disease and night blindness. ( 307531 )
1977
39
Oguchi's disease. ( 306381 )
1977
40
Oguchi's disease in Negroes. ( 5305073 )
1969
41
Histologic study of Oguchi's disease. Its relationship to pigmentary degeneration of the retina. ( 5306121 )
1969
42
Oguchi's disease--first report from India. ( 5310050 )
1969
43
Some visual characteristics of Oguchi's disease. ( 5298954 )
1966
44
OGUCHI'S DISEASE. ( 14281981 )
1965
45
Appearance and disappearance of the fundus disturbance in Oguchi's disease. ( 13746719 )
1961
46
Oguchi's disease; a case report. ( 14350058 )
1955
47
Oguchi's disease. ( 13040477 )
1953

Variations for Oguchi Disease

ClinVar genetic disease variations for Oguchi Disease:

6 (show top 50) (show all 54)
# Gene Variation Type Significance SNP ID Assembly Location
1 SAG NM_000541.4(SAG): c.926delA (p.Asn309Thrfs) deletion Pathogenic rs587776778 GRCh37 Chromosome 2, 234243727: 234243727
2 SAG NM_000541.4(SAG): c.926delA (p.Asn309Thrfs) deletion Pathogenic rs587776778 GRCh38 Chromosome 2, 233335081: 233335081
3 SAG NM_000541.4(SAG): c.577C> T (p.Arg193Ter) single nucleotide variant Pathogenic rs201153410 GRCh37 Chromosome 2, 234237188: 234237188
4 SAG NM_000541.4(SAG): c.874C> T (p.Arg292Ter) single nucleotide variant Pathogenic rs397514681 GRCh38 Chromosome 2, 233335029: 233335029
5 SAG NM_000541.4(SAG): c.916G> T (p.Glu306Ter) single nucleotide variant Pathogenic rs397514682 GRCh37 Chromosome 2, 234243717: 234243717
6 SAG NM_000541.4(SAG): c.916G> T (p.Glu306Ter) single nucleotide variant Pathogenic rs397514682 GRCh38 Chromosome 2, 233335071: 233335071
7 SAG NM_000541.4(SAG): c.577C> T (p.Arg193Ter) single nucleotide variant Pathogenic rs201153410 GRCh38 Chromosome 2, 233328542: 233328542
8 SAG NM_000541.4(SAG): c.874C> T (p.Arg292Ter) single nucleotide variant Pathogenic rs397514681 GRCh37 Chromosome 2, 234243675: 234243675
9 SAG NM_000541.4(SAG): c.523C> T (p.Arg175Ter) single nucleotide variant Pathogenic rs587777209 GRCh37 Chromosome 2, 234237134: 234237134
10 SAG NM_000541.4(SAG): c.523C> T (p.Arg175Ter) single nucleotide variant Pathogenic rs587777209 GRCh38 Chromosome 2, 233328488: 233328488
11 SAG NM_000541.4(SAG): c.301G> A (p.Ala101Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs141521563 GRCh37 Chromosome 2, 234229395: 234229395
12 SAG NM_000541.4(SAG): c.301G> A (p.Ala101Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs141521563 GRCh38 Chromosome 2, 233320749: 233320749
13 SAG NM_000541.4(SAG): c.375+11C> T single nucleotide variant Benign/Likely benign rs74356516 GRCh37 Chromosome 2, 234229480: 234229480
14 SAG NM_000541.4(SAG): c.375+11C> T single nucleotide variant Benign/Likely benign rs74356516 GRCh38 Chromosome 2, 233320834: 233320834
15 SAG NM_000541.4(SAG): c.468C> T (p.Phe156=) single nucleotide variant Uncertain significance rs375593027 GRCh37 Chromosome 2, 234235799: 234235799
16 SAG NM_000541.4(SAG): c.468C> T (p.Phe156=) single nucleotide variant Uncertain significance rs375593027 GRCh38 Chromosome 2, 233327153: 233327153
17 SAG NM_000541.4(SAG): c.875G> A (p.Arg292Gln) single nucleotide variant Uncertain significance rs554322769 GRCh37 Chromosome 2, 234243676: 234243676
18 SAG NM_000541.4(SAG): c.875G> A (p.Arg292Gln) single nucleotide variant Uncertain significance rs554322769 GRCh38 Chromosome 2, 233335030: 233335030
19 SAG NM_000541.4(SAG): c.1207G> A (p.Val403Ile) single nucleotide variant Benign rs1046974 GRCh37 Chromosome 2, 234255547: 234255547
20 SAG NM_000541.4(SAG): c.1207G> A (p.Val403Ile) single nucleotide variant Benign rs1046974 GRCh38 Chromosome 2, 233346901: 233346901
21 SAG NM_000541.4(SAG): c.-11G> A single nucleotide variant Uncertain significance rs754551985 GRCh38 Chromosome 2, 233309179: 233309179
22 SAG NM_000541.4(SAG): c.-11G> A single nucleotide variant Uncertain significance rs754551985 GRCh37 Chromosome 2, 234217825: 234217825
23 SAG NM_000541.4(SAG): c.226A> G (p.Ile76Val) single nucleotide variant Likely benign rs7565275 GRCh38 Chromosome 2, 233320674: 233320674
24 SAG NM_000541.4(SAG): c.226A> G (p.Ile76Val) single nucleotide variant Likely benign rs7565275 GRCh37 Chromosome 2, 234229320: 234229320
25 SAG NM_000541.4(SAG): c.820C> T (p.Pro274Ser) single nucleotide variant Uncertain significance rs369789189 GRCh37 Chromosome 2, 234243621: 234243621
26 SAG NM_000541.4(SAG): c.820C> T (p.Pro274Ser) single nucleotide variant Uncertain significance rs369789189 GRCh38 Chromosome 2, 233334975: 233334975
27 SAG NM_000541.4(SAG): c.1167T> A (p.Asp389Glu) single nucleotide variant Uncertain significance rs199798289 GRCh37 Chromosome 2, 234255507: 234255507
28 SAG NM_000541.4(SAG): c.1167T> A (p.Asp389Glu) single nucleotide variant Uncertain significance rs199798289 GRCh38 Chromosome 2, 233346861: 233346861
29 SAG NM_000541.4(SAG): c.*7C> T single nucleotide variant Likely benign rs692 GRCh37 Chromosome 2, 234255565: 234255565
30 SAG NM_000541.4(SAG): c.*7C> T single nucleotide variant Likely benign rs692 GRCh38 Chromosome 2, 233346919: 233346919
31 SAG NM_000541.4(SAG): c.*89C> T single nucleotide variant Likely benign rs78338185 GRCh37 Chromosome 2, 234255647: 234255647
32 SAG NM_000541.4(SAG): c.*89C> T single nucleotide variant Likely benign rs78338185 GRCh38 Chromosome 2, 233347001: 233347001
33 SAG NM_000541.4(SAG): c.*98G> A single nucleotide variant Uncertain significance rs184255686 GRCh37 Chromosome 2, 234255656: 234255656
34 SAG NM_000541.4(SAG): c.*98G> A single nucleotide variant Uncertain significance rs184255686 GRCh38 Chromosome 2, 233347010: 233347010
35 SAG NM_000541.4(SAG): c.-331G> T single nucleotide variant Uncertain significance rs752812406 GRCh38 Chromosome 2, 233307720: 233307720
36 SAG NM_000541.4(SAG): c.-331G> T single nucleotide variant Uncertain significance rs752812406 GRCh37 Chromosome 2, 234216366: 234216366
37 SAG NM_000541.4(SAG): c.-278A> G single nucleotide variant Uncertain significance rs886055799 GRCh38 Chromosome 2, 233307773: 233307773
38 SAG NM_000541.4(SAG): c.-278A> G single nucleotide variant Uncertain significance rs886055799 GRCh37 Chromosome 2, 234216419: 234216419
39 SAG NM_000541.4(SAG): c.1208T> C (p.Val403Ala) single nucleotide variant Benign rs1046976 GRCh37 Chromosome 2, 234255548: 234255548
40 SAG NM_000541.4(SAG): c.1208T> C (p.Val403Ala) single nucleotide variant Benign rs1046976 GRCh38 Chromosome 2, 233346902: 233346902
41 SAG NM_000541.4(SAG): c.201C> T (p.Cys67=) single nucleotide variant Likely benign rs72976383 GRCh38 Chromosome 2, 233320649: 233320649
42 SAG NM_000541.4(SAG): c.201C> T (p.Cys67=) single nucleotide variant Likely benign rs72976383 GRCh37 Chromosome 2, 234229295: 234229295
43 SAG NM_000541.4(SAG): c.489C> T (p.Ala163=) single nucleotide variant Likely benign rs2304773 GRCh37 Chromosome 2, 234235820: 234235820
44 SAG NM_000541.4(SAG): c.489C> T (p.Ala163=) single nucleotide variant Likely benign rs2304773 GRCh38 Chromosome 2, 233327174: 233327174
45 SAG NM_000541.4(SAG): c.838A> G (p.Lys280Glu) single nucleotide variant Uncertain significance rs373986650 GRCh37 Chromosome 2, 234243639: 234243639
46 SAG NM_000541.4(SAG): c.838A> G (p.Lys280Glu) single nucleotide variant Uncertain significance rs373986650 GRCh38 Chromosome 2, 233334993: 233334993
47 SAG NM_000541.4(SAG): c.-223C> G single nucleotide variant Uncertain significance rs140569105 GRCh38 Chromosome 2, 233307828: 233307828
48 SAG NM_000541.4(SAG): c.-223C> G single nucleotide variant Uncertain significance rs140569105 GRCh37 Chromosome 2, 234216474: 234216474
49 SAG NM_000541.4(SAG): c.321G> C (p.Leu107=) single nucleotide variant Likely benign rs59676190 GRCh38 Chromosome 2, 233320769: 233320769
50 SAG NM_000541.4(SAG): c.321G> C (p.Leu107=) single nucleotide variant Likely benign rs59676190 GRCh37 Chromosome 2, 234229415: 234229415

Expression for Oguchi Disease

Search GEO for disease gene expression data for Oguchi Disease.

Pathways for Oguchi Disease

GO Terms for Oguchi Disease

Cellular components related to Oguchi Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.62 GNAT1 GRM6 RHO SAG
2 photoreceptor inner segment GO:0001917 9.33 GNAT1 RHO SAG
3 photoreceptor outer segment membrane GO:0042622 9.26 GNAT1 RHO
4 photoreceptor outer segment GO:0001750 9.26 CACNA1F GNAT1 RHO SAG
5 photoreceptor disc membrane GO:0097381 8.92 GNAT1 GRK1 PDE6B RHO

Biological processes related to Oguchi Disease according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.95 GNAT1 GRK1 GRM6 PDE6B RHO SAG
2 response to stimulus GO:0050896 9.86 CACNA1F GNAT1 GRK1 GRM6 NYX PDE6B
3 retina development in camera-type eye GO:0060041 9.67 GNAT1 GRM6 PDE6B RHO
4 detection of light stimulus involved in visual perception GO:0050908 9.58 CACNA1F GNAT1 GRM6
5 regulation of rhodopsin mediated signaling pathway GO:0022400 9.55 GNAT1 GRK1 PDE6B RHO SAG
6 retinoid metabolic process GO:0001523 9.52 RDH5 RHO
7 phototransduction GO:0007602 9.51 GNAT1 RHO
8 phototransduction, visible light GO:0007603 9.5 GNAT1 PDE6B RHO
9 response to light stimulus GO:0009416 9.49 GNAT1 RHO
10 sensory perception of light stimulus GO:0050953 9.46 GRM6 RHO
11 detection of light stimulus GO:0009583 9.43 PDE6B RHO
12 rhodopsin mediated signaling pathway GO:0016056 9.35 GNAT1 GRK1 PDE6B RHO SAG
13 visual perception GO:0007601 9.23 CACNA1F GNAT1 GRK1 GRM6 NYX PDE6B

Sources for Oguchi Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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