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 54 60
Oguchi's Disease 30 6
Congenital Stationary Night Blindness, Oguchi Type 60
Stationary Night Blindness, Oguchi Type 54
Oguchi Syndrome 60
Oguchis Disease 56

Characteristics:

Orphanet epidemiological data:

60
oguchi disease
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 60  
Rare eye diseases


External Ids:

MESH via Orphanet 46 C537743
ICD10 via Orphanet 35 H53.6
UMLS via Orphanet 75 C1306122
Orphanet 60 ORPHA75382

Summaries for Oguchi Disease

NIH Rare Diseases : 54 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 and retina, and related phenotypes are Decreased viability in esophageal squamous lineage and nervous system

Wikipedia : 77 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 34)
# Related Disease Score Top Affiliating Genes
1 congenital stationary night blindness 29.6 CACNA1F GNAT1 GRK1 GRM6 NYX PDE6B
2 retinitis pigmentosa 28.0 CACNA1F GNAT1 GRK1 NYX PDE6B RDH5
3 night blindness 27.5 CACNA1F GNAT1 GRK1 GRM6 NYX PDE6B
4 oguchi disease 1 12.6
5 oguchi disease 2 12.5
6 melanoma-associated retinopathy 10.2 RHO SAG
7 pineocytoma 10.2 RHO SAG
8 leber congenital amaurosis 4 10.2
9 retinitis 10.2
10 bardet-biedl syndrome 5 10.2 RHO SAG
11 cancer-associated retinopathy 10.2 RHO SAG
12 autoimmune disease of eyes, ear, nose and throat 10.2 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 microvascular complications of diabetes 5 10.1
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 night blindness, congenital stationary, type 1b 10.0 GRM6 NYX
24 achromatopsia 3 9.9 CACNA1F NYX
25 retinitis pigmentosa 19 9.9 PDE6B RHO
26 retinitis pigmentosa 43 9.9 PDE6B RHO
27 achromatopsia 9.9 CACNA1F NYX
28 myopia 9.8 CACNA1F NYX RHO
29 retinal degeneration 9.7 PDE6B RHO SAG
30 autosomal dominant congenital stationary night blindness 9.6 GNAT1 PDE6B RHO
31 fundus dystrophy 9.5 GRK1 PDE6B RDH5 RHO
32 leber congenital amaurosis 9.4 GRK1 PDE6B RHO
33 retinal disease 8.9 CACNA1F GRM6 NYX PDE6B RHO SAG
34 fundus albipunctatus 8.8 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:

27
# 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:

47
# 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 30

Anatomical Context for Oguchi Disease

MalaCards organs/tissues related to Oguchi Disease:

42
Eye, Retina

Publications for Oguchi Disease

Articles related to Oguchi Disease:

(show all 48)
# Title Authors Year
1
A novel GRK1 mutation in an Italian patient with Oguchi disease. ( 28511019 )
2018
2
Oguchi's disease with Mizuo-Nakamura phenomenon in a seven-year-old boy. ( 30607313 )
2018
3
A novel missense mutation of the GRK1 gene in Oguchi disease. ( 27511724 )
2016
4
The first case of Oguchi disease, type 2 in a Polish patient with confirmed GRK1 gene mutation. ( 26349155 )
2015
5
Association of Retinal Artery and Other Inner Retinal Structures With Distribution of Tapetal-like Reflex in Oguchi's Disease. ( 25744976 )
2015
6
Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease. ( 22959359 )
2012
7
A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease. ( 22665972 )
2012
8
A Chinese family with Oguchi's disease due to compound heterozygosity including a novel deletion in the arrestin gene. ( 22419846 )
2012
9
Oguchi disease with unusual findings associated with a heterozygous mutation in the SAG gene. ( 21987685 )
2011
10
Macular Dysfunction in Oguchi Disease with the Frequent Mutation 1147delA in the SAG Gene. ( 21447990 )
2011
11
Oguchi disease masked by retinitis pigmentosa. ( 21922265 )
2011
12
Spectral-domain optical coherence tomography findings in the Mizuo-Nakamura phenomenon of Oguchi disease. ( 21336075 )
2011
13
Mizuo-Nakamura phenomenon in Oguchi disease due to a homozygous nonsense mutation in the SAG gene. ( 21494281 )
2011
14
A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family. ( 19753316 )
2009
15
Shortening of the rod outer segment in Oguchi disease. ( 19513740 )
2009
16
Optical coherence tomographic evaluation of the outer retinal architecture in Oguchi disease. ( 19847595 )
2009
17
Novel mutations in the GRK1 gene in Japanese patients With Oguchi disease. ( 17765441 )
2007
18
A novel homozygous GRK1 mutation (P391H) in 2 siblings with Oguchi disease with markedly reduced cone responses. ( 17070587 )
2007
19
A case of Oguchi's disease with diabetic retinopathy. ( 17894693 )
2007
20
Oguchi disease. ( 16679684 )
2006
21
A variant form of Oguchi disease mapped to 13q34 associated with partial deletion of GRK1 gene. ( 16319817 )
2005
22
Novel mutations in the arrestin gene and associated clinical features in Japanese patients with Oguchi's disease. ( 15234147 )
2004
23
Gene analysis and evaluation of the single founder effect in Japanese patients with Oguchi disease. ( 15295660 )
2004
24
ERG rod a-wave in Oguchi disease. ( 14680778 )
2004
25
Mizuo phenomenon observed by scanning laser ophthalmoscopy in a patient with Oguchi disease. ( 11020420 )
2000
26
Increased susceptibility to light damage in an arrestin knockout mouse model of Oguchi disease (stationary night blindness) ( 10549660 )
1999
27
1147 del A mutation in the arrestin gene in Japanese patients with Oguchi disease. ( 10420197 )
1999
28
Two Indian siblings with Oguchi disease are homozygous for an arrestin mutation encoding premature termination. ( 9452120 )
1998
29
A case of a combination of Oguchi's disease and congenital retinoschisis. ( 9693296 )
1998
30
Oguchi disease with sectoral retinitis pigmentosa harboring adenine deletion at position 1147 in the arrestin gene. ( 9467455 )
1998
31
Visual function and gene analysis in a family with Oguchi's disease. ( 9731122 )
1998
32
Normal S cone electroretinogram b-wave in Oguchi's disease. ( 9497461 )
1997
33
Oguchi disease: phenotypic characteristics of patients with the frequent 1147delA mutation in the arrestin gene. ( 9051837 )
1997
34
The Mizuo phenomenon in Oguchi disease. ( 9109775 )
1997
35
Electrophysiological findings in patients with Oguchi's disease. ( 9130055 )
1996
36
A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. ( 7670478 )
1995
37
Oguchi disease: suggestion of linkage to markers on chromosome 2q. ( 7616550 )
1995
38
Genetic heterogeneity of Oguchi's disease. ( 2086477 )
1990
39
Oguchi's disease and night blindness. ( 307531 )
1977
40
Oguchi's disease. ( 306381 )
1977
41
Oguchi's disease in Negroes. ( 5305073 )
1969
42
Histologic study of Oguchi's disease. Its relationship to pigmentary degeneration of the retina. ( 5306121 )
1969
43
Oguchi's disease--first report from India. ( 5310050 )
1969
44
Some visual characteristics of Oguchi's disease. ( 5298954 )
1966
45
OGUCHI'S DISEASE. ( 14281981 )
1965
46
Appearance and disappearance of the fundus disturbance in Oguchi's disease. ( 13746719 )
1961
47
Oguchi's disease; a case report. ( 14350058 )
1955
48
Oguchi's disease. ( 13040477 )
1953

Variations for Oguchi Disease

ClinVar genetic disease variations for Oguchi Disease:

6 (show top 50) (show all 56)
# Gene Variation Type Significance SNP ID Assembly Location
1 SAG NM_000541.4(SAG): c.301G> A (p.Ala101Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs141521563 GRCh37 Chromosome 2, 234229395: 234229395
2 SAG NM_000541.4(SAG): c.301G> A (p.Ala101Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs141521563 GRCh38 Chromosome 2, 233320749: 233320749
3 SAG NM_000541.4(SAG): c.375+11C> T single nucleotide variant Benign/Likely benign rs74356516 GRCh37 Chromosome 2, 234229480: 234229480
4 SAG NM_000541.4(SAG): c.375+11C> T single nucleotide variant Benign/Likely benign rs74356516 GRCh38 Chromosome 2, 233320834: 233320834
5 SAG NM_000541.4(SAG): c.468C> T (p.Phe156=) single nucleotide variant Uncertain significance rs375593027 GRCh37 Chromosome 2, 234235799: 234235799
6 SAG NM_000541.4(SAG): c.468C> T (p.Phe156=) single nucleotide variant Uncertain significance rs375593027 GRCh38 Chromosome 2, 233327153: 233327153
7 SAG NM_000541.4(SAG): c.875G> A (p.Arg292Gln) single nucleotide variant Uncertain significance rs554322769 GRCh37 Chromosome 2, 234243676: 234243676
8 SAG NM_000541.4(SAG): c.875G> A (p.Arg292Gln) single nucleotide variant Uncertain significance rs554322769 GRCh38 Chromosome 2, 233335030: 233335030
9 SAG NM_000541.4(SAG): c.1207G> A (p.Val403Ile) single nucleotide variant Benign rs1046974 GRCh37 Chromosome 2, 234255547: 234255547
10 SAG NM_000541.4(SAG): c.1207G> A (p.Val403Ile) single nucleotide variant Benign rs1046974 GRCh38 Chromosome 2, 233346901: 233346901
11 SAG NM_000541.4(SAG): c.926delA (p.Asn309Thrfs) deletion Pathogenic rs587776778 GRCh37 Chromosome 2, 234243727: 234243727
12 SAG NM_000541.4(SAG): c.926delA (p.Asn309Thrfs) deletion Pathogenic rs587776778 GRCh38 Chromosome 2, 233335081: 233335081
13 SAG NM_000541.4(SAG): c.874C> T (p.Arg292Ter) single nucleotide variant Pathogenic rs397514681 GRCh38 Chromosome 2, 233335029: 233335029
14 SAG NM_000541.4(SAG): c.916G> T (p.Glu306Ter) single nucleotide variant Pathogenic rs397514682 GRCh37 Chromosome 2, 234243717: 234243717
15 SAG NM_000541.4(SAG): c.874C> T (p.Arg292Ter) single nucleotide variant Pathogenic rs397514681 GRCh37 Chromosome 2, 234243675: 234243675
16 SAG NM_000541.4(SAG): c.916G> T (p.Glu306Ter) single nucleotide variant Pathogenic rs397514682 GRCh38 Chromosome 2, 233335071: 233335071
17 SAG NM_000541.4(SAG): c.577C> T (p.Arg193Ter) single nucleotide variant Pathogenic rs201153410 GRCh37 Chromosome 2, 234237188: 234237188
18 SAG NM_000541.4(SAG): c.577C> T (p.Arg193Ter) single nucleotide variant Pathogenic rs201153410 GRCh38 Chromosome 2, 233328542: 233328542
19 SAG NM_000541.5(SAG): c.523C> T (p.Arg175Ter) single nucleotide variant Pathogenic rs587777209 GRCh37 Chromosome 2, 234237134: 234237134
20 SAG NM_000541.5(SAG): c.523C> T (p.Arg175Ter) single nucleotide variant Pathogenic rs587777209 GRCh38 Chromosome 2, 233328488: 233328488
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 GRCh38 Chromosome 2, 233334975: 233334975
26 SAG NM_000541.4(SAG): c.820C> T (p.Pro274Ser) single nucleotide variant Uncertain significance rs369789189 GRCh37 Chromosome 2, 234243621: 234243621
27 SAG NM_000541.4(SAG): c.1167T> A (p.Asp389Glu) single nucleotide variant Uncertain significance rs199798289 GRCh38 Chromosome 2, 233346861: 233346861
28 SAG NM_000541.4(SAG): c.1167T> A (p.Asp389Glu) single nucleotide variant Uncertain significance rs199798289 GRCh37 Chromosome 2, 234255507: 234255507
29 SAG NM_000541.4(SAG): c.*7C> T single nucleotide variant Likely benign rs692 GRCh38 Chromosome 2, 233346919: 233346919
30 SAG NM_000541.4(SAG): c.*7C> T single nucleotide variant Likely benign rs692 GRCh37 Chromosome 2, 234255565: 234255565
31 SAG NM_000541.4(SAG): c.*89C> T single nucleotide variant Likely benign rs78338185 GRCh38 Chromosome 2, 233347001: 233347001
32 SAG NM_000541.4(SAG): c.*89C> T single nucleotide variant Likely benign rs78338185 GRCh37 Chromosome 2, 234255647: 234255647
33 SAG NM_000541.4(SAG): c.*98G> A single nucleotide variant Uncertain significance rs184255686 GRCh38 Chromosome 2, 233347010: 233347010
34 SAG NM_000541.4(SAG): c.*98G> A single nucleotide variant Uncertain significance rs184255686 GRCh37 Chromosome 2, 234255656: 234255656
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 GRCh38 Chromosome 2, 233346902: 233346902
40 SAG NM_000541.4(SAG): c.1208T> C (p.Val403Ala) single nucleotide variant Benign rs1046976 GRCh37 Chromosome 2, 234255548: 234255548
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 GRCh38 Chromosome 2, 233327174: 233327174
44 SAG NM_000541.4(SAG): c.489C> T (p.Ala163=) single nucleotide variant Likely benign rs2304773 GRCh37 Chromosome 2, 234235820: 234235820
45 SAG NM_000541.4(SAG): c.838A> G (p.Lys280Glu) single nucleotide variant Uncertain significance rs373986650 GRCh38 Chromosome 2, 233334993: 233334993
46 SAG NM_000541.4(SAG): c.838A> G (p.Lys280Glu) single nucleotide variant Uncertain significance rs373986650 GRCh37 Chromosome 2, 234243639: 234243639
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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