CSNBO1
MCID: OGC001
MIFTS: 39

Oguchi Disease 1 (CSNBO1)

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

Aliases & Classifications for Oguchi Disease 1

MalaCards integrated aliases for Oguchi Disease 1:

Name: Oguchi Disease 1 57 72 39
Oguchi Disease-1 57 12 72 13 15
Night Blindness, Congenital Stationary, Oguchi Type 1 57 72 6
Csnbo1 57 12 72
Night Blindness, Congenital Stationary, Oguchi Type 1; Csnbo1 57
Congenital Stationary Night Blindness Oguchi Type 1 12
Oguchi Disease 70

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
other visual functions, including visual acuity, visual field, and color vision, are usually normal in these patients


HPO:

31
oguchi disease 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110712
OMIM® 57 258100
OMIM Phenotypic Series 57 PS310500
MeSH 44 D009755
UMLS 70 C1306122

Summaries for Oguchi Disease 1

OMIM® : 57 Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness in which all other visual functions, including visual acuity, visual field, and color vision, are usually normal. A typical feature of the disease is a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and reappears shortly after the onset of light (Mizuo phenomenon, or Mizuo-Nakamura phenomenon). The course of dark adaptation of rod photoreceptors is extremely retarded, whereas that of cones appears to proceed normally (summary by Fuchs et al., 1995). (258100) (Updated 05-Apr-2021)

MalaCards based summary : Oguchi Disease 1, also known as oguchi disease-1, is related to oguchi disease 2 and oguchi disease. An important gene associated with Oguchi Disease 1 is SAG (S-Antigen Visual Arrestin), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Visual Cycle in Retinal Rods. Affiliated tissues include retina and eye, and related phenotypes are congenital stationary night blindness and hemeralopia

Disease Ontology : 12 A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has material basis in homozygous or compound heterozygous mutation in the SAG gene on chromosome 2q37.

UniProtKB/Swiss-Prot : 72 Night blindness, congenital stationary, Oguchi type 1: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. Congenital stationary night blindness Oguchi type is an autosomal recessive form associated with fundus discoloration and abnormally slow dark adaptation.

Related Diseases for Oguchi Disease 1

Diseases in the Oguchi Disease family:

Oguchi Disease 1 Oguchi Disease 2

Diseases related to Oguchi Disease 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 oguchi disease 2 29.0 SAG RGS9BP RAB28 PDE6G GRK7 GRK1
2 oguchi disease 10.2 SAG GRK1
3 retinal vasculitis 10.0 SAG ARR3
4 night blindness, congenital stationary, type 2a 9.9 GRK1 ARR3
5 leber congenital amaurosis 1 9.8 GRK7 GRK1 ARR3
6 prolonged electroretinal response suppression 9.8 RGS9BP GRK7 GRK1
7 bardet-biedl syndrome 7 9.7 RGS9BP CABP4
8 bardet-biedl syndrome 4 9.7 RGS9BP CABP4
9 nephronophthisis 4 9.7 RGS9BP CABP4
10 usher syndrome 9.7 GRK7 GRK1 ARR3
11 myasthenic syndrome, congenital, 3a, slow-channel 9.7 SAG GRK7 GRK1 ARR3
12 eye degenerative disease 9.7 SAG GRK7 GRK1 ARR3
13 retinoschisis 1, x-linked, juvenile 9.6 GRK1 CABP4
14 enhanced s-cone syndrome 9.6 RGS9BP GRK7 GRK1 ARR3
15 macular degeneration, age-related, 1 9.5 SAG GRK1 ARR3
16 retinal degeneration 9.5 SAG PDE6G GRK1 ARR3
17 cone-rod dystrophy 6 9.5 PDE6G CABP4 ARR3
18 night blindness 9.5 SAG GRK7 GRK1 CABP4
19 abnormal threshold of rods 9.4 SAG RGS9BP GRK1 CABP4
20 fundus albipunctatus 9.4 SAG RGS9BP GRK1 CABP4
21 cone dystrophy 9.4 SAG RGS9BP GRK1 CABP4
22 achromatopsia 9.0 RGS9BP RAB28 GRK1 CABP4 ARR3
23 retinitis pigmentosa 39 9.0 RGS9BP RAB28 PDE6G GRK7 CABP4
24 congenital stationary night blindness 8.7 SAG RGS9BP PDE6G GRK7 GRK1 CABP4
25 cone-rod dystrophy 2 8.5 SAG RGS9BP RAB28 PDE6G GRK1 CABP4
26 leber plus disease 8.4 SAG RGS9BP RAB28 PDE6G GRK7 GRK1
27 retinitis pigmentosa 8.3 SAG RGS9BP RAB28 PDE6G GRK7 GRK1
28 fundus dystrophy 8.3 SAG RGS9BP RAB28 PDE6G GRK7 GRK1

Graphical network of the top 20 diseases related to Oguchi Disease 1:



Diseases related to Oguchi Disease 1

Symptoms & Phenotypes for Oguchi Disease 1

Human phenotypes related to Oguchi Disease 1:

31
# Description HPO Frequency HPO Source Accession
1 congenital stationary night blindness 31 HP:0007642
2 hemeralopia 31 HP:0012047

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
night blindness, congenital stationary
yellow or gray discoloration of retina that disappears after prolonged dark adaptation

Clinical features from OMIM®:

258100 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Oguchi Disease 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.17 ARR3 CABP4 GRK1 PDE6G RAB28 RGS9BP

Drugs & Therapeutics for Oguchi Disease 1

Search Clinical Trials , NIH Clinical Center for Oguchi Disease 1

Genetic Tests for Oguchi Disease 1

Anatomical Context for Oguchi Disease 1

MalaCards organs/tissues related to Oguchi Disease 1:

40
Retina, Eye

Publications for Oguchi Disease 1

Articles related to Oguchi Disease 1:

(show top 50) (show all 80)
# Title Authors PMID Year
1
A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease. 6 57 61
22665972 2012
2
Arrestin gene mutations in autosomal recessive retinitis pigmentosa. 61 57 6
9565049 1998
3
Two Indian siblings with Oguchi disease are homozygous for an arrestin mutation encoding premature termination. 61 57 6
9452120 1998
4
A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. 6 57 61
7670478 1995
5
Novel mutations in the arrestin gene and associated clinical features in Japanese patients with Oguchi's disease. 57 6
15234147 2004
6
Oguchi disease: suggestion of linkage to markers on chromosome 2q. 57 61
7616550 1995
7
The influence of arrestin (48K protein) and rhodopsin kinase on visual transduction. 57
1309646 1992
8
Regulation of rhodopsin dephosphorylation by arrestin. 57
2550422 1989
9
Oguchi's disease. 57
13297351 1956
10
[Fundus albipunctatus with hemeralopia of 49 years' duration]. 57
14833766 1951
11
New variants and in silico analyses in GRK1 associated Oguchi disease. 61
33252155 2021
12
Oguchi Disease Associated with Keratoconus. 61
33520139 2021
13
Oguchi disease caused by a homozygous novel SAG splicing alteration associated with the multiple evanescent white dot syndrome: A 15-month follow-up. 61
32333190 2020
14
Clinical Findings in Four Siblings with Genetically Proven Oguchi Disease. 61
33553842 2020
15
Wide-field true-colour imaging and clinical characterization of a novel GRK1 mutation in Oguchi disease. 61
32146548 2020
16
Signs of Oguchi Disease and Pigmentary Degeneration from Early in Life. 61
32444022 2020
17
A Homozygote Mutation in S-Antigen Visual Arrestin SAG Gene in an Iranian Patient with Oguchi Type One: A Case Report. 61
32953689 2020
18
Electronegative Electroretinograms in the United Arab Emirates. 61
32874040 2020
19
Progression from Classical Oguchi Disease to Retinitis Pigmentosa after 50 Years. 61
31864474 2020
20
Phenotypic Features of Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations: A Long-Term Follow-up Study. 61
31257036 2019
21
Novel homozygous in-frame deletion of GNAT1 gene causes golden appearance of fundus and reduced scotopic ERGs similar to that in Oguchi disease in Japanese family. 61
31696758 2019
22
Oguchi type I caused by a homozygous missense variation in the SAG gene. 61
30267901 2019
23
A Mixture of U.S. Food and Drug Administration-Approved Monoaminergic Drugs Protects the Retina From Light Damage in Diverse Models of Night Blindness. 61
30947334 2019
24
Oguchi Disease: The Chameleon in the Retina. 61
31014762 2019
25
Mizuo-Nakamura phenomenon in an Indian male. 61
30847219 2019
26
ISCEV extended protocol for the dark-adapted red flash ERG. 61
29934801 2018
27
A novel GRK1 mutation in an Italian patient with Oguchi disease. 61
28511019 2018
28
A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States. 61
28549094 2017
29
Mizuo-Nakamura Phenomena. 61
27842204 2016
30
A novel missense mutation of the GRK1 gene in Oguchi disease. 61
27511724 2016
31
The first case of Oguchi disease, type 2 in a Polish patient with confirmed GRK1 gene mutation. 61
26349155 2015
32
A non-stop S-antigen gene mutation is associated with late onset hereditary retinal degeneration in dogs. 61
24019744 2013
33
Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease. 61
22959359 2012
34
Potential cellular functions of N-ethylmaleimide sensitive factor in the photoreceptor. 61
22183408 2012
35
Macular Dysfunction in Oguchi Disease with the Frequent Mutation 1147delA in the SAG Gene. 61
21447990 2011
36
Oguchi disease with unusual findings associated with a heterozygous mutation in the SAG gene. 61
21987685 2011
37
Oguchi disease masked by retinitis pigmentosa. 61
21922265 2011
38
[A case of Oguchi disease with disappearance of golden tapetal-like fundus reflex after vitreous resection]. 61
22117325 2011
39
Mizuo-Nakamura phenomenon in Oguchi disease due to a homozygous nonsense mutation in the SAG gene. 61
21494281 2011
40
Spectral-domain optical coherence tomography findings in the Mizuo-Nakamura phenomenon of Oguchi disease. 61
21336075 2011
41
Visual Arrestin 1 acts as a modulator for N-ethylmaleimide-sensitive factor in the photoreceptor synapse. 61
20631167 2010
42
KMeyeDB: a graphical database of mutations in genes that cause eye diseases. 61
20232414 2010
43
Shortening of the rod outer segment in Oguchi disease. 61
19513740 2009
44
Optical coherence tomographic evaluation of the outer retinal architecture in Oguchi disease. 61
19847595 2009
45
A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family. 61
19753316 2009
46
Novel mutations in the GRK1 gene in Japanese patients With Oguchi disease. 61
17765441 2007
47
[Physiology and pathology of visual information processing]. 61
17402561 2007
48
[Oguchi disease or stationary congenital night blindness: a case report]. 61
17287664 2007
49
A novel homozygous GRK1 mutation (P391H) in 2 siblings with Oguchi disease with markedly reduced cone responses. 61
17070587 2007
50
Arrestin can act as a regulator of rhodopsin photochemistry. 61
17069872 2006

Variations for Oguchi Disease 1

ClinVar genetic disease variations for Oguchi Disease 1:

6 (show top 50) (show all 58)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SAG NM_000541.5(SAG):c.874C>T (p.Arg292Ter) SNV Pathogenic 41897 rs397514681 GRCh37: 2:234243675-234243675
GRCh38: 2:233335029-233335029
2 SAG NM_000541.5(SAG):c.916G>T (p.Glu306Ter) SNV Pathogenic 41898 rs397514682 GRCh37: 2:234243717-234243717
GRCh38: 2:233335071-233335071
3 SAG NM_000541.5(SAG):c.523C>T (p.Arg175Ter) SNV Pathogenic 102422 rs587777209 GRCh37: 2:234237134-234237134
GRCh38: 2:233328488-233328488
4 SAG NM_000541.5(SAG):c.649-1G>C SNV Pathogenic 989451 GRCh37: 2:234238138-234238138
GRCh38: 2:233329492-233329492
5 SAG NM_000541.5(SAG):c.926del (p.Asn309fs) Deletion Pathogenic 12951 rs587776778 GRCh37: 2:234243725-234243725
GRCh38: 2:233335079-233335079
6 SAG NM_000541.5(SAG):c.571C>T (p.Gln191Ter) SNV Pathogenic 801912 rs1574942567 GRCh37: 2:234237182-234237182
GRCh38: 2:233328536-233328536
7 SAG NM_000541.5(SAG):c.577C>T (p.Arg193Ter) SNV Pathogenic 41895 rs201153410 GRCh37: 2:234237188-234237188
GRCh38: 2:233328542-233328542
8 SAG NM_000541.5(SAG):c.182-2A>G SNV Pathogenic 851115 GRCh37: 2:234229274-234229274
GRCh38: 2:233320628-233320628
9 SAG NM_000541.5(SAG):c.398C>T (p.Ser133Leu) SNV Likely pathogenic 559444 rs1324934886 GRCh37: 2:234231614-234231614
GRCh38: 2:233322968-233322968
10 SAG NM_000541.5(SAG):c.298G>A (p.Ala100Thr) SNV Uncertain significance 895288 GRCh37: 2:234229392-234229392
GRCh38: 2:233320746-233320746
11 SAG NM_000541.5(SAG):c.820C>T (p.Pro274Ser) SNV Uncertain significance 335070 rs369789189 GRCh37: 2:234243621-234243621
GRCh38: 2:233334975-233334975
12 SAG NM_000541.5(SAG):c.866C>T (p.Ala289Val) SNV Uncertain significance 895370 GRCh37: 2:234243667-234243667
GRCh38: 2:233335021-233335021
13 SAG NM_000541.5(SAG):c.1167T>A (p.Asp389Glu) SNV Uncertain significance 335073 rs199798289 GRCh37: 2:234255507-234255507
GRCh38: 2:233346861-233346861
14 SAG NM_000541.5(SAG):c.1132G>A (p.Val378Ile) SNV Uncertain significance 194605 rs200602069 GRCh37: 2:234255472-234255472
GRCh38: 2:233346826-233346826
15 SAG NM_000541.5(SAG):c.208C>T (p.Arg70Cys) SNV Uncertain significance 898283 GRCh37: 2:234229302-234229302
GRCh38: 2:233320656-233320656
16 SAG NM_000541.5(SAG):c.1054G>A (p.Ala352Thr) SNV Uncertain significance 896773 GRCh37: 2:234250924-234250924
GRCh38: 2:233342278-233342278
17 SAG NM_000541.5(SAG):c.453T>G (p.Phe151Leu) SNV Uncertain significance 897182 GRCh37: 2:234235784-234235784
GRCh38: 2:233327138-233327138
18 SAG NM_000541.5(SAG):c.473C>A (p.Thr158Lys) SNV Uncertain significance 855885 GRCh37: 2:234235804-234235804
GRCh38: 2:233327158-233327158
19 SAG NM_000541.5(SAG):c.154G>C (p.Asp52His) SNV Uncertain significance 837117 GRCh37: 2:234227414-234227414
GRCh38: 2:233318768-233318768
20 SAG NM_000541.5(SAG):c.525A>G (p.Arg175=) SNV Uncertain significance 718731 rs199839554 GRCh37: 2:234237136-234237136
GRCh38: 2:233328490-233328490
21 SAG NM_000541.5(SAG):c.777C>T (p.Tyr259=) SNV Uncertain significance 898348 GRCh37: 2:234240329-234240329
GRCh38: 2:233331683-233331683
22 SAG NM_000541.5(SAG):c.*20C>T SNV Uncertain significance 898428 GRCh37: 2:234255578-234255578
GRCh38: 2:233346932-233346932
23 SAG NM_000541.4(SAG):c.-331G>T SNV Uncertain significance 335062 rs752812406 GRCh37: 2:234216366-234216366
GRCh38: 2:233307720-233307720
24 SAG NM_000541.4(SAG):c.-278A>G SNV Uncertain significance 335063 rs886055799 GRCh37: 2:234216419-234216419
GRCh38: 2:233307773-233307773
25 SAG NM_000541.5(SAG):c.-28-10A>G SNV Uncertain significance 896658 GRCh37: 2:234217798-234217798
GRCh38: 2:233309152-233309152
26 SAG NM_000541.5(SAG):c.944+5G>A SNV Uncertain significance 811941 rs374048703 GRCh37: 2:234243750-234243750
GRCh38: 2:233335104-233335104
27 SAG NM_000541.5(SAG):c.31G>A (p.Glu11Lys) SNV Uncertain significance 791237 rs200078242 GRCh37: 2:234217866-234217866
GRCh38: 2:233309220-233309220
28 SAG NM_000541.5(SAG):c.75+7G>T SNV Uncertain significance 897119 GRCh37: 2:234217917-234217917
GRCh38: 2:233309271-233309271
29 SAG NM_000541.5(SAG):c.250C>T (p.Arg84Cys) SNV Uncertain significance 143084 rs115857633 GRCh37: 2:234229344-234229344
GRCh38: 2:233320698-233320698
30 SAG NM_000541.5(SAG):c.269C>G (p.Ser90Cys) SNV Uncertain significance 895287 GRCh37: 2:234229363-234229363
GRCh38: 2:233320717-233320717
31 SAG NM_000541.5(SAG):c.778G>A (p.Val260Ile) SNV Uncertain significance 895368 GRCh37: 2:234240330-234240330
GRCh38: 2:233331684-233331684
32 SAG NM_000541.5(SAG):c.793A>G (p.Met265Val) SNV Uncertain significance 895369 GRCh37: 2:234240345-234240345
GRCh38: 2:233331699-233331699
33 SAG NM_000541.5(SAG):c.*113C>T SNV Uncertain significance 895438 GRCh37: 2:234255671-234255671
GRCh38: 2:233347025-233347025
34 SAG NM_000541.5(SAG):c.468C>T (p.Phe156=) SNV Uncertain significance 167636 rs375593027 GRCh37: 2:234235799-234235799
GRCh38: 2:233327153-233327153
35 SAG NM_000541.5(SAG):c.875G>A (p.Arg292Gln) SNV Uncertain significance 193815 rs554322769 GRCh37: 2:234243676-234243676
GRCh38: 2:233335030-233335030
36 GRK1 NM_002929.3(GRK1):c.92G>A (p.Arg31Gln) SNV Uncertain significance 638310 rs1243049516 GRCh37: 13:114321793-114321793
GRCh38: 13:113667478-113667478
37 SAG NM_000541.5(SAG):c.-11G>A SNV Uncertain significance 335065 rs754551985 GRCh37: 2:234217825-234217825
GRCh38: 2:233309179-233309179
38 SAG NM_000541.5(SAG):c.*98G>A SNV Uncertain significance 335078 rs184255686 GRCh37: 2:234255656-234255656
GRCh38: 2:233347010-233347010
39 SAG NM_000541.5(SAG):c.838A>G (p.Lys280Glu) SNV Uncertain significance 335071 rs373986650 GRCh37: 2:234243639-234243639
GRCh38: 2:233334993-233334993
40 SAG NM_000541.5(SAG):c.-223C>G SNV Likely benign 335064 rs140569105 GRCh37: 2:234216474-234216474
GRCh38: 2:233307828-233307828
41 SAG NM_000541.5(SAG):c.-69G>A SNV Likely benign 896657 GRCh37: 2:234216628-234216628
GRCh38: 2:233307982-233307982
42 SAG NM_000541.5(SAG):c.*90G>A SNV Likely benign 335077 rs143418950 GRCh37: 2:234255648-234255648
GRCh38: 2:233347002-233347002
43 SAG NM_000541.5(SAG):c.420A>G (p.Pro140=) SNV Likely benign 769594 rs150046934 GRCh37: 2:234231636-234231636
GRCh38: 2:233322990-233322990
44 SAG NM_000541.5(SAG):c.588G>A (p.Ala196=) SNV Likely benign 712453 rs190853693 GRCh37: 2:234237199-234237199
GRCh38: 2:233328553-233328553
45 SAG NM_000541.5(SAG):c.301G>A (p.Ala101Thr) SNV Likely benign 167633 rs141521563 GRCh37: 2:234229395-234229395
GRCh38: 2:233320749-233320749
46 SAG NM_000541.5(SAG):c.1091C>T (p.Pro364Leu) SNV Benign 791897 rs112613526 GRCh37: 2:234250961-234250961
GRCh38: 2:233342315-233342315
47 SAG NM_000541.5(SAG):c.489C>T (p.Ala163=) SNV Benign 335069 rs2304773 GRCh37: 2:234235820-234235820
GRCh38: 2:233327174-233327174
48 SAG NM_000541.5(SAG):c.226A>G (p.Ile76Val) SNV Benign 335067 rs7565275 GRCh37: 2:234229320-234229320
GRCh38: 2:233320674-233320674
49 SAG NM_000541.5(SAG):c.93G>A (p.Gly31=) SNV Benign 811618 rs79063407 GRCh37: 2:234224738-234224738
GRCh38: 2:233316092-233316092
50 SAG NM_000541.5(SAG):c.321G>C (p.Leu107=) SNV Benign 335068 rs59676190 GRCh37: 2:234229415-234229415
GRCh38: 2:233320769-233320769

Expression for Oguchi Disease 1

Search GEO for disease gene expression data for Oguchi Disease 1.

Pathways for Oguchi Disease 1

GO Terms for Oguchi Disease 1

Cellular components related to Oguchi Disease 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.55 SAG RAB28 GRK1 CABP4 ARR3
2 photoreceptor inner segment GO:0001917 9.26 SAG ARR3
3 photoreceptor disc membrane GO:0097381 9.13 PDE6G GRK7 GRK1
4 photoreceptor outer segment GO:0001750 8.92 SAG RGS9BP GRK1 ARR3

Biological processes related to Oguchi Disease 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.77 SAG GRK7 GRK1 CABP4 ARR3
2 response to stimulus GO:0050896 9.65 RGS9BP PDE6G GRK7 GRK1 ARR3
3 rhodopsin mediated signaling pathway GO:0016056 9.33 SAG PDE6G GRK1
4 G protein-coupled receptor internalization GO:0002031 9.32 SAG ARR3
5 regulation of rhodopsin mediated signaling pathway GO:0022400 9.26 SAG PDE6G GRK7 GRK1
6 visual perception GO:0007601 9.1 RGS9BP PDE6G GRK7 GRK1 CABP4 ARR3

Molecular functions related to Oguchi Disease 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor binding GO:0001664 9.32 SAG ARR3
2 phosphoprotein binding GO:0051219 9.26 SAG ARR3
3 G protein-coupled receptor kinase activity GO:0004703 9.16 GRK7 GRK1
4 opsin binding GO:0002046 8.96 SAG ARR3
5 rhodopsin kinase activity GO:0050254 8.62 GRK7 GRK1

Sources for Oguchi Disease 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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