MCID: NGH026
MIFTS: 52

Night Blindness, Congenital Stationary, Type 1a

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Night Blindness, Congenital Stationary, Type 1a

MalaCards integrated aliases for Night Blindness, Congenital Stationary, Type 1a:

Name: Night Blindness, Congenital Stationary, Type 1a 57 73
Hemeralopia-Myopia 57 12 75
Nyctalopia 75 29 6
Csnb1a 57 12 75
Night Blindness, Congenital Stationary , 1a, X-Linked 57 13
Congenital Stationary Night Blindness with Myopia 12 75
Congenital Stationary Night Blindness, Type 1a 29 6
Congenital Stationary Night Blindness 1a 12 15
Myopia-Night Blindness 57 12
Night Blindness, Congenital Stationary, with Myopia 57
Congenital Stationary Night Blindness 1a X-Linked 12
Blindness, Night, Stationary, Congenital, Type 1a 40
Night Blindness, Congenital Stationary, Type 2a 73
X-Linked Congenital Stationary Night Blindness 75
Night Blindness, Congenital Stationary, 1a 75
Myopia-Night Blindness; Nbm1 57
Csnb, Complete, X-Linked 57
Complete Csnb X-Linked 12
Complete X-Linked Csnb 75
Night Blindness 73
X-Linked Csnb 73
Xlcsnb 75
Nbm1 57
Nbmi 12

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive


HPO:

32
night blindness, congenital stationary, type 1a:
Inheritance x-linked inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 57 310500
Disease Ontology 12 DOID:0110870
MeSH 44 D009755

Summaries for Night Blindness, Congenital Stationary, Type 1a

OMIM : 57 Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous group of nonprogressive retinal disorders that can be characterized by impaired night vision, decreased visual acuity, nystagmus, myopia, and strabismus. CSNB can be classified into 2 groups based on electroretinography (ERG) findings: the Schubert-Bornschein type is characterized by an ERG in which the b-wave is smaller than the a-wave, whereas the Riggs type is defined by proportionally reduced a- and b-waves. In addition, Schubert-Bornschein CSNB is associated with decreased visual acuity, myopia, and nystagmus, whereas in Riggs CSNB patients have visual acuity within the normal range and no symptoms of myopia and/or nystagmus (summary by Riazuddin et al., 2010). Additionally, Schubert-Bornschein CSNB can be subdivided into 'complete' and 'incomplete' forms (summary by Riazuddin et al., 2010). Van Genderen et al. (2009) noted that standard flash ERG distinguishes a 'complete' form, also known as type 1 CSNB, from an 'incomplete' form, also known as type 2 CSNB (see CSNB2A, 300071). The complete form is characterized by the complete absence of rod pathway function, whereas the incomplete form is due to impaired rod and cone pathway function. Complete CSNB results from postsynaptic defects in depolarizing or ON bipolar cell signaling, whereas the hyperpolarizing or OFF bipolar cell pathway is intact. Bijveld et al. (2013) noted that the term 'incomplete' CSNB refers to the less-impaired rod system function in CSNB2, whereas the more severely impaired cone system function results in a greater decrease in visual acuity, with a greater impact on a patient's daily life activities than the impairment in CSNB1. Thus, patients with so-called 'incomplete CSNB' actually experience more visual restrictions than those with 'complete CSNB,' which can be misleading to patients and their parents. (310500)

MalaCards based summary : Night Blindness, Congenital Stationary, Type 1a, also known as hemeralopia-myopia, is related to congenital stationary night blindness and x-linked congenital stationary night blindness, and has symptoms including other specified visual disturbances, photophobia and amaurosis fugax. An important gene associated with Night Blindness, Congenital Stationary, Type 1a is NYX (Nyctalopin), and among its related pathways/superpathways are ERK Signaling and PEDF Induced Signaling. Affiliated tissues include liver and eye, and related phenotypes are myopia and congenital stationary night blindness

Disease Ontology : 12 A congenital stationary night blindness that has material basis in mutation in the NYX gene on chromosome Xp11.4.

UniProtKB/Swiss-Prot : 75 Night blindness, congenital stationary, 1A: A non-progressive retinal disorder characterized by impaired night vision. Congenital stationary night blindness type 1A is characterized by impaired scotopic vision, myopia, hyperopia, nystagmus and reduced visual acuity.

Related Diseases for Night Blindness, Congenital Stationary, Type 1a

Diseases in the Congenital Stationary Night Blindness family:

Night Blindness, Congenital Stationary, Autosomal Dominant 2 Night Blindness, Congenital Stationary, Type 1b
Night Blindness, Congenital Stationary, Type 2a Night Blindness, Congenital Stationary, Type 1a
Night Blindness, Congenital Stationary, Autosomal Dominant 3 Night Blindness, Congenital Stationary, Autosomal Dominant 1
Night Blindness, Congenital Stationary, Type 1c Night Blindness, Congenital Stationary, Type 1d
Night Blindness, Congenital Stationary, Type 1e Night Blindness, Congenital Stationary, Type 1f
Night Blindness, Congenital Stationary, Type 1g Night Blindness, Congenital Stationary, Type 1h
Autosomal Dominant Congenital Stationary Night Blindness Autosomal Recessive Congenital Stationary Night Blindness

Diseases related to Night Blindness, Congenital Stationary, Type 1a via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 89)
# Related Disease Score Top Affiliating Genes
1 congenital stationary night blindness 11.4
2 x-linked congenital stationary night blindness 11.4
3 night blindness 11.2
4 bietti crystalline corneoretinal dystrophy 11.0
5 usher syndrome, type iiia 11.0
6 usher syndrome, type iiib 11.0
7 enhanced s-cone syndrome 10.9
8 night blindness, congenital stationary, type 1d 10.9
9 night blindness, congenital stationary, type 1e 10.9
10 night blindness, congenital stationary, type 1h 10.9
11 cone-rod dystrophy 2 10.8
12 wagner vitreoretinopathy 10.8
13 reticular dystrophy of retinal pigment epithelium 10.8
14 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma 10.8
15 late-onset retinal degeneration 10.8
16 birdshot chorioretinopathy 10.8
17 posterior column ataxia with retinitis pigmentosa 10.8
18 retinal cone dystrophy 3b 10.8
19 ayazi syndrome 10.8
20 pemphigoid gestationis 10.6 CCL11 IL5
21 cytokine deficiency 10.6 IL13 IL5
22 angioimmunoblastic lymphadenopathy with dysproteinemia 10.5 IL13 IL5
23 sydenham chorea 10.5 CXCL10 CXCL9
24 chronic meningitis 10.5 CCL11 IL5 MT-CO1
25 paragonimiasis 10.4 IL13 IL5 MT-CO1
26 inflammatory bowel disease 4 10.4 IL13 IL5
27 eosinophilic gastroenteritis 10.4 CCL11 IL5
28 ascaris lumbricoides infection 10.4 IL13 IL5
29 angiostrongyliasis 10.4 CCL11 IL13 IL5
30 strongyloidiasis 10.4 CCL11 IL13 IL5
31 eosinophilic meningitis 10.4 CCL11 IL13 IL5
32 parasitic helminthiasis infectious disease 10.4 IL13 IL5 MT-CO1
33 chronic conjunctivitis 10.4 CCL11 IL13 IL5
34 eosinophilic gastritis 10.4 CCL11 IL13 IL5
35 endotheliitis 10.4 CXCL10 CXCL11 CXCL9
36 vernal keratoconjunctivitis 10.4 CCL11 IL13 IL5
37 esophagitis, eosinophilic, 1 10.3 CCL11 IL13 IL5
38 conjunctival disease 10.3 CCL11 IL13 IL5
39 chronic eosinophilic pneumonia 10.3 CCL11 IL5
40 opsoclonus-myoclonus syndrome 10.3 CXCL10 CXCL11 CXCL9
41 pulmonary eosinophilia 10.3 CCL11 IL13 IL5
42 eosinophilic pneumonia 10.3 CCL11 IL13 IL5
43 onchocerciasis 10.3 CCL11 IL13 IL5
44 allergic conjunctivitis 10.3 CCL11 IL13 IL5
45 nasal cavity disease 10.3 CCL11 IL13 IL5
46 nose disease 10.3 CCL11 IL13 IL5
47 common cold 10.3 CCL11 IL13 IL5
48 upper respiratory tract disease 10.3 CCL11 IL13 IL5
49 leukocyte disease 10.3 CCL11 IL13 IL5
50 conjunctivitis 10.3 CCL11 IL13 IL5

Graphical network of the top 20 diseases related to Night Blindness, Congenital Stationary, Type 1a:



Diseases related to Night Blindness, Congenital Stationary, Type 1a

Symptoms & Phenotypes for Night Blindness, Congenital Stationary, Type 1a

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hemeralopia
high myopia
night blindness, stationary
impaired visual acuity


Clinical features from OMIM:

310500

Human phenotypes related to Night Blindness, Congenital Stationary, Type 1a:

32
# Description HPO Frequency HPO Source Accession
1 myopia 32 HP:0000545
2 congenital stationary night blindness 32 HP:0007642
3 high myopia 32 HP:0011003
4 hemeralopia 32 HP:0012047

UMLS symptoms related to Night Blindness, Congenital Stationary, Type 1a:


other specified visual disturbances, photophobia, amaurosis fugax, subjective visual disturbance, unspecified, metamorphopsia, visual disturbance, visual manifestations

Drugs & Therapeutics for Night Blindness, Congenital Stationary, Type 1a

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of a Night Spectacle Correction Concerning an Improvement of Mesopic Vision Quality Completed NCT02965534 Not Applicable

Search NIH Clinical Center for Night Blindness, Congenital Stationary, Type 1a

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Genetic Tests for Night Blindness, Congenital Stationary, Type 1a

Genetic tests related to Night Blindness, Congenital Stationary, Type 1a:

# Genetic test Affiliating Genes
1 Congenital Stationary Night Blindness, Type 1a 29 NYX
2 Nyctalopia 29

Anatomical Context for Night Blindness, Congenital Stationary, Type 1a

MalaCards organs/tissues related to Night Blindness, Congenital Stationary, Type 1a:

41
Liver, Eye

Publications for Night Blindness, Congenital Stationary, Type 1a

Articles related to Night Blindness, Congenital Stationary, Type 1a:

# Title Authors Year
1
X-linked congenital stationary night blindness with myopia and nystagmus without clinical complaints of nyctalopia. ( 3257795 )
1988
2
Congenital stationary night blindness with myopia: a clinico-pathologic study. ( 3488187 )
1986
3
The Eisdell pedigree. Congenital stationary night-blindness with myopia. ( 6364465 )
1983
4
The photopic electroretinogram in congenital stationary night blindness with myopia. ( 6601088 )
1983
5
The autosomal recessive variety of congenital stationary night-blindness with myopia. ( 4537233 )
1972

Variations for Night Blindness, Congenital Stationary, Type 1a

UniProtKB/Swiss-Prot genetic disease variations for Night Blindness, Congenital Stationary, Type 1a:

75 (show all 16)
# Symbol AA change Variation ID SNP ID
1 NYX p.Cys31Ser VAR_013867 rs62637020
2 NYX p.Ala143Pro VAR_013868 rs62637023
3 NYX p.Pro151Leu VAR_013869 rs62637024
4 NYX p.Pro175Arg VAR_013870 rs62637025
5 NYX p.Leu184Pro VAR_013871 rs62637026
6 NYX p.Ala187Lys VAR_013872 rs62637027
7 NYX p.Leu213Gln VAR_013873 rs62637028
8 NYX p.Asn216Ser VAR_013874
9 NYX p.Leu232Pro VAR_013875 rs62637030
10 NYX p.Asn264Lys VAR_013876 rs62637032
11 NYX p.Leu285Pro VAR_013877 rs62637033
12 NYX p.Phe298Ser VAR_013878 rs62637034
13 NYX p.Leu307Pro VAR_013879
14 NYX p.Asn312Ser VAR_013880 rs62637035
15 NYX p.Leu347Pro VAR_013881 rs62637036
16 NYX p.Gly370Val VAR_013882 rs62637038

ClinVar genetic disease variations for Night Blindness, Congenital Stationary, Type 1a:

6
(show all 21)
# Gene Variation Type Significance SNP ID Assembly Location
1 NYX NYX, 24-BP DEL deletion Pathogenic
2 NYX NM_022567.2(NYX): c.1049G> A (p.Trp350Ter) single nucleotide variant Pathogenic rs62637037 GRCh37 Chromosome X, 41333755: 41333755
3 NYX NM_022567.2(NYX): c.1049G> A (p.Trp350Ter) single nucleotide variant Pathogenic rs62637037 GRCh38 Chromosome X, 41474502: 41474502
4 NYX NM_022567.2(NYX): c.105C> A (p.Cys35Ter) single nucleotide variant Pathogenic rs62637021 GRCh37 Chromosome X, 41332811: 41332811
5 NYX NM_022567.2(NYX): c.105C> A (p.Cys35Ter) single nucleotide variant Pathogenic rs62637021 GRCh38 Chromosome X, 41473558: 41473558
6 NYX NM_022567.2(NYX): c.559_560delGCinsAA (p.Ala187Lys) indel Pathogenic rs62637027 GRCh37 Chromosome X, 41333265: 41333266
7 NYX NM_022567.2(NYX): c.559_560delGCinsAA (p.Ala187Lys) indel Pathogenic rs62637027 GRCh38 Chromosome X, 41474012: 41474013
8 NYX NM_022567.2(NYX): c.281G> C (p.Arg94Pro) single nucleotide variant Pathogenic rs104894910 GRCh37 Chromosome X, 41332987: 41332987
9 NYX NM_022567.2(NYX): c.281G> C (p.Arg94Pro) single nucleotide variant Pathogenic rs104894910 GRCh38 Chromosome X, 41473734: 41473734
10 NYX NM_022567.2(NYX): c.302T> C (p.Ile101Thr) single nucleotide variant Pathogenic rs104894911 GRCh37 Chromosome X, 41333008: 41333008
11 NYX NM_022567.2(NYX): c.302T> C (p.Ile101Thr) single nucleotide variant Pathogenic rs104894911 GRCh38 Chromosome X, 41473755: 41473755
12 RHO NM_000539.3(RHO): c.1040C> T (p.Pro347Leu) single nucleotide variant Pathogenic rs29001566 GRCh37 Chromosome 3, 129252554: 129252554
13 RHO NM_000539.3(RHO): c.1040C> T (p.Pro347Leu) single nucleotide variant Pathogenic rs29001566 GRCh38 Chromosome 3, 129533711: 129533711
14 NYX NM_022567.2(NYX): c.85_108del24 (p.Arg29_Ala36del) deletion Pathogenic rs281865194 GRCh37 Chromosome X, 41332791: 41332814
15 NYX NM_022567.2(NYX): c.85_108del24 (p.Arg29_Ala36del) deletion Pathogenic rs281865194 GRCh38 Chromosome X, 41473538: 41473561
16 NYX NM_022567.2(NYX): c.38-1_38delGCinsTT indel Pathogenic GRCh37 Chromosome X, 41332743: 41332744
17 NYX NM_022567.2(NYX): c.38-1_38delGCinsTT indel Pathogenic GRCh38 Chromosome X, 41473490: 41473491
18 EFEMP1 NM_001039348.2(EFEMP1): c.1189T> C (p.Tyr397His) single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 55870851: 55870851
19 EFEMP1 NM_001039348.2(EFEMP1): c.1189T> C (p.Tyr397His) single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 56097986: 56097986
20 CHM NM_000390.3(CHM): c.75_77del (p.Ala26del) deletion Likely pathogenic GRCh37 Chromosome X, 85282534: 85282536
21 CHM NM_000390.3(CHM): c.75_77del (p.Ala26del) deletion Likely pathogenic GRCh38 Chromosome X, 86027530: 86027532

Expression for Night Blindness, Congenital Stationary, Type 1a

Search GEO for disease gene expression data for Night Blindness, Congenital Stationary, Type 1a.

Pathways for Night Blindness, Congenital Stationary, Type 1a

Pathways related to Night Blindness, Congenital Stationary, Type 1a according to GeneCards Suite gene sharing:

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.76 CCL1 CCL11 CCL3 CCL4 CXCL1 CXCL10
2
Show member pathways
13.59 CCL1 CCL11 CCL3 CCL4 CXCL1 CXCL10
3
Show member pathways
13.33 CCL1 CCL11 CCL3 CCL4 CXCL1 CXCL10
4
Show member pathways
13.27 CCL11 CCL3 CCL4 CXCL1 CXCL10 CXCL2
5
Show member pathways
13.25 CCL1 CCL11 CCL3 CCL4 CXCL1 CXCL10
6
Show member pathways
13 CCL1 CCL11 CCL3 CCL4 CXCL1 CXCL10
7
Show member pathways
12.93 CCL3 CCL4 CXCL1 CXCL10 CXCL11 CXCL2
8
Show member pathways
12.74 CCL11 CXCL11 CXCL9 IL13 IL5
9
Show member pathways
12.73 CCL1 CCL11 CCL3 CCL4 CXCL1 CXCL10
10
Show member pathways
12.27 CCL11 CXCL1 CXCL10 CXCL2 IL13 IL5
11
Show member pathways
12.01 CCL1 CCL11 CCL3 CCL4 IL13 IL5
12 11.86 CXCL1 CXCL10 CXCL2
13 11.8 CXCL1 CXCL10 CXCL2
14 11.79 BMI1 CCL3 CXCL1
15 11.74 CCL3 CCL4 CXCL1 CXCL2 TJP1
16 11.66 CCL3 IL13 IL5
17 11.53 CCL11 CCL3 CCL4 CXCL2 IL13 IL5
18 11.41 CCL11 IL13 IL5
19
Show member pathways
11.34 CCL1 CCL11 CCL3 CCL4 CXCL1 CXCL10
20 11.31 CCL11 CXCL10 CXCL11 CXCL9
21 11.21 CXCL1 CXCL2 IL13 IL5
22 11.12 CCL3 CCL4 CXCL1 CXCL10 CXCL2 IL13

GO Terms for Night Blindness, Congenital Stationary, Type 1a

Cellular components related to Night Blindness, Congenital Stationary, Type 1a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.73 CCL1 CCL11 CCL3 CCL4 CXCL1 CXCL10
2 extracellular space GO:0005615 9.36 CCL1 CCL11 CCL3 CCL4 CXCL1 CXCL10
3 cell GO:0005623 9.33 CCL1 CCL11 CXCL11
4 apicolateral plasma membrane GO:0016327 9.26 OCLN TJP1

Biological processes related to Night Blindness, Congenital Stationary, Type 1a according to GeneCards Suite gene sharing:

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 response to lipopolysaccharide GO:0032496 9.98 CXCL1 CXCL10 CXCL11 CXCL2 CXCL9 IL13
2 positive regulation of GTPase activity GO:0043547 9.96 CCL1 CCL11 CCL3 CCL4
3 defense response GO:0006952 9.96 CXCL1 CXCL10 CXCL11 CXCL2 CXCL9
4 cellular response to tumor necrosis factor GO:0071356 9.95 CCL1 CCL11 CCL3 CCL4 OCLN
5 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.93 CCL1 CCL11 CCL3 CCL4
6 cellular response to interferon-gamma GO:0071346 9.91 CCL1 CCL11 CCL3 CCL4
7 cellular response to interleukin-1 GO:0071347 9.9 CCL1 CCL11 CCL3 CCL4
8 cell chemotaxis GO:0060326 9.89 CCL3 CXCL1 CXCL10 CXCL2
9 neutrophil chemotaxis GO:0030593 9.88 CCL1 CCL11 CCL3 CCL4
10 monocyte chemotaxis GO:0002548 9.84 CCL1 CCL11 CCL3 CCL4
11 lymphocyte chemotaxis GO:0048247 9.83 CCL1 CCL11 CCL3 CCL4
12 response to virus GO:0009615 9.82 CCL11 CCL4 CXCL10
13 cellular calcium ion homeostasis GO:0006874 9.82 CCL1 CCL11 CCL3
14 positive regulation of release of sequestered calcium ion into cytosol GO:0051281 9.81 CXCL10 CXCL11 CXCL9 IL13
15 chemotaxis GO:0006935 9.81 CCL1 CCL11 CCL3 CCL4 CXCL1 CXCL10
16 eosinophil chemotaxis GO:0048245 9.8 CCL1 CCL11 CCL3 CCL4
17 positive regulation of leukocyte chemotaxis GO:0002690 9.8 CXCL1 CXCL10 CXCL11 CXCL2 CXCL9
18 positive regulation of cAMP-mediated signaling GO:0043950 9.76 CXCL10 CXCL11 CXCL9
19 T cell chemotaxis GO:0010818 9.76 CCL3 CXCL10 CXCL11 CXCL9
20 positive regulation of cAMP metabolic process GO:0030816 9.74 CXCL10 CXCL11 CXCL9
21 inflammatory response GO:0006954 9.7 CCL1 CCL11 CCL3 CCL4 CXCL1 CXCL10
22 positive regulation of calcium ion transport GO:0051928 9.67 CCL3 CCL4
23 positive regulation of monocyte chemotaxis GO:0090026 9.65 CCL1 CXCL10
24 positive regulation of calcium-mediated signaling GO:0050850 9.65 CCL3 CCL4
25 regulation of bicellular tight junction assembly GO:2000810 9.64 OCLN TJP1
26 negative regulation by host of viral transcription GO:0043922 9.63 CCL3 CCL4
27 positive regulation of natural killer cell chemotaxis GO:2000503 9.62 CCL3 CCL4
28 chemokine-mediated signaling pathway GO:0070098 9.28 CCL1 CCL11 CCL3 CCL4 CXCL1 CXCL10
29 signal transduction GO:0007165 10.26 CCL1 CCL11 CCL4 CXCL1 CXCL10 CXCL11
30 G-protein coupled receptor signaling pathway GO:0007186 10.18 CCL1 CCL11 CCL3 CCL4 CXCL1 CXCL10
31 immune response GO:0006955 10.06 CCL1 CCL11 CCL3 CCL4 CXCL1 CXCL10
32 cell-cell signaling GO:0007267 10.02 CCL3 CCL4 CXCL10 CXCL11 CXCL9
33 cytokine-mediated signaling pathway GO:0019221 10.02 CCL11 CCL3 CCL4 CXCL1 CXCL10 CXCL2
34 regulation of cell proliferation GO:0042127 10.01 CXCL1 CXCL10 CXCL11 CXCL2 CXCL9
35 regulation of signaling receptor activity GO:0010469 10 CCL1 CCL11 CCL3 CCL4 CXCL1 CXCL10

Molecular functions related to Night Blindness, Congenital Stationary, Type 1a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.65 CCL11 CCL3 CCL4 CXCL1 CXCL10 CXCL11
2 CCR chemokine receptor binding GO:0048020 9.62 CCL1 CCL11 CCL3 CCL4
3 CXCR chemokine receptor binding GO:0045236 9.55 CXCL1 CXCL10 CXCL11 CXCL2 CXCL9
4 CXCR3 chemokine receptor binding GO:0048248 9.43 CXCL10 CXCL11 CXCL9
5 CCR5 chemokine receptor binding GO:0031730 9.4 CCL3 CCL4
6 CCR1 chemokine receptor binding GO:0031726 9.37 CCL3 CCL4
7 chemokine activity GO:0008009 9.28 CCL1 CCL11 CCL3 CCL4 CXCL1 CXCL10
8 protein binding GO:0005515 10.34 BMI1 CCL11 CCL3 CCL4 COG2 CXCL10

Sources for Night Blindness, Congenital Stationary, Type 1a

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
Content
Loading form....