BCM
MCID: BLC001
MIFTS: 45

Blue Cone Monochromacy (BCM)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Blue Cone Monochromacy

MalaCards integrated aliases for Blue Cone Monochromacy:

Name: Blue Cone Monochromacy 57 12 59 74 37 13 15
Blue Cone Monochromatism 57 75 53 59 74
Cbbm 57 53 74
Bcm 57 53 74
Cone Dystrophy 5, X-Linked 6 72
Colorblindness, Blue-Mono-Cone-Monochromatic Type; Cbbm 57
Colorblindness, Blue-Mono-Cone-Monochromatic Type 57
Color Blindness Blue Mono Cone Monochromatic Type 53
Color Blindness, Blue Monocone Monochromatic Type 59
Colorblindness Blue-Mono-Cone-Monochromatic Type 74
Achromatopsia Incomplete, X-Linked 72
Achromatopsia Incomplete X-Linked 53
Incomplete Achromatopsia X-Linked 53
X-Chromosome-Linked Achromatopsia 53
X-Linked Achromatopsia Incomplete 53
X-Linked Incomplete Achromatopsia 59
Atypical X-Linked Achromatopsia 59
Cone Dystrophy 5 X-Linked 74
Monochromacy, Blue Cone 40
S Cone Monochromatism 59
S Cone Monochromacy 59
Cone Monochromatism 72
Cone Dystrophy 5 74
Cod5 74

Characteristics:

Orphanet epidemiological data:

59
blue cone monochromatism
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
progressive disease is seen in some patients


HPO:

32
blue cone monochromacy:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0050679
KEGG 37 H00974
MESH via Orphanet 45 C536238 C538165
ICD10 via Orphanet 34 H53.5
UMLS via Orphanet 73 C0339537 C2931753
Orphanet 59 ORPHA16
UMLS 72 C0339537 C2931753 C3887937

Summaries for Blue Cone Monochromacy

UniProtKB/Swiss-Prot : 74 Blue cone monochromacy: A rare X-linked congenital stationary cone dysfunction syndrome characterized by the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina. Color discrimination is severely impaired from birth, and vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. BCM typically presents with reduced visual acuity, pendular nystagmus, and photophobia. Patients often have myopia. Cone dystrophy 5: A X-linked cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs.

MalaCards based summary : Blue Cone Monochromacy, also known as blue cone monochromatism, is related to color vision deficiency and pathologic nystagmus, and has symptoms including photophobia An important gene associated with Blue Cone Monochromacy is OPN1LW (Opsin 1, Long Wave Sensitive), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. Affiliated tissues include retina, eye and testes, and related phenotypes are blue cone monochromacy and nystagmus

Disease Ontology : 12 An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has material basis in recessive X-linked inheritance.

NIH Rare Diseases : 53 Blue cone monochromatism is an inherited vision disorder. In this condition, the light sensitive cells in the eye used for color vision (cones) are affected. There are three types of cones that respond to one of three colors: red, green, and blue. When people have blue cone monochromatism, both the red and green cones do not function properly, while the blue cones work normally. Signs and symptoms may include impaired color vision, low visual acuity (clarity or sharpness), photophobia (light sensitivity), myopia (nearsightedness), and nystagmus (fast, uncontrollable movements of the eye). Blue cone monochromatism is caused by mutations in either the OPN1LW or the OPN1MW gene(s) and is inherited in an X-linked manner. There is no cure for this condition; however, there may be ways to manage the symptoms, such as using special glasses or contact lenses and low vision aids.

OMIM : 57 Blue cone (OPN1SW; 613522) monochromatism is a rare X-linked congenital stationary cone dysfunction syndrome characterized by the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina. Color discrimination is severely impaired from birth, and vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. BCM typically presents with reduced visual acuity, pendular nystagmus, and photophobia. Patients often have myopia (review by Gardner et al., 2009). There is evidence for progression of disease in some BCM families (Nathans et al., 1989; Ayyagari et al., 2000; Michaelides et al., 2005). (303700)

KEGG : 37
Blue cone monochromacy (also known as X-linked recessive incomplete achromatopsia) is a congenital stationary cone dysfunction syndrome characterized by the absence of both red and green cone sensitivities. Vision is derived from the remaining blue cones and rod photoreceptors. Patients present with reduced visual acuity, pendular nystagmus, and photophobia. The prevalence of blue cone monochromacy is estimated to be 1 in 100 000 males.

Wikipedia : 75 Monochromacy (from Greek mono, meaning "one "and chromo, meaning "color") is the ability of organisms or... more...

Related Diseases for Blue Cone Monochromacy

Diseases related to Blue Cone Monochromacy via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 53, show less)
# Related Disease Score Top Affiliating Genes
1 color vision deficiency 31.3 OPSIN-LCR OPN1MW OPN1LW NR2E3 CNGA3
2 pathologic nystagmus 30.3 RHO CNGB3 CNGA3
3 tritanopia 30.2 RHO CNGB3
4 enhanced s-cone syndrome 29.9 NR2E3 CNGA3
5 color blindness 29.6 OPN1MW OPN1LW CNGB3 CNGA3
6 cone dystrophy 29.6 RHO OPN1MW OPN1LW CNGB3
7 fundus dystrophy 29.1 RHO NR2E3 CNGB3 CNGA3
8 colorblindness, partial, protan series 28.9 TEX28 RHO OPN1MW OPN1LW CNGB3
9 achromatopsia 27.8 TEX28 OPSIN-LCR OPN1MW OPN1LW NR2E3 CNGB3
10 nystagmus 1, congenital, x-linked 11.5
11 myopia 10.4
12 microvascular complications of diabetes 5 10.4
13 congenital nystagmus 10.3
14 ocular dominance 10.3
15 breast disease 10.3
16 astigmatism 10.2
17 retinal degeneration 10.2
18 ocular albinism, x-linked 10.2
19 goldmann-favre syndrome 10.2
20 inherited retinal disorder 10.2
21 oligocone trichromacy 10.2 CNGB3 CNGA3
22 achromatopsia 4 10.2 CNGB3 CNGA3
23 cone-rod dystrophy, x-linked, 1 10.2
24 jalili syndrome 10.2 CNGB3 CNGA3
25 achromatopsia 2 10.2 CNGB3 CNGA3
26 cone-rod dystrophy 8 10.1 CNGB3 CNGA3
27 cone-rod dystrophy 2 10.1
28 yemenite deaf-blind hypopigmentation syndrome 10.1
29 autosomal recessive disease 10.1
30 eye disease 10.1
31 retinal disease 10.1
32 scotoma 10.1
33 refractive error 10.1
34 retinitis pigmentosa 44 10.1 CNGB3 CNGA3
35 breast cancer 10.1
36 mantle cell lymphoma 10.1
37 leukemia 10.1
38 end stage renal failure 10.1
39 chronic kidney disease 10.1
40 peritonitis 10.1
41 lung disease 10.1
42 cardiogenic shock 10.1
43 cone-rod dystrophy 9 10.1 CNGB3 CNGA3
44 choroid disease 10.0 RHO CNGB3
45 retinitis pigmentosa 26 10.0 CNGB3 CNGA3
46 stargardt disease 1 10.0 RHO CNGB3
47 stargardt disease 9.9 RHO CNGB3
48 cone-rod dystrophy 6 9.9 CNGB3 CNGA3
49 achromatopsia 3 9.6 CNGB3 CNGA3
50 leber congenital amaurosis 9.2 RHO NR2E3 CNGB3 CNGA3
51 red-green color blindness 9.0 TEX28 RHO OPN1MW OPN1LW CNGB3
52 retinitis pigmentosa 8.9 RHO OPN1MW OPN1LW NR2E3 CNGA3
53 ewing sarcoma 8.8 RHO CYCS CNGB3 CNGA3

Graphical network of the top 20 diseases related to Blue Cone Monochromacy:



Diseases related to Blue Cone Monochromacy

Symptoms & Phenotypes for Blue Cone Monochromacy

Human phenotypes related to Blue Cone Monochromacy:

59 32 (showing 11, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 blue cone monochromacy 59 32 hallmark (90%) Very frequent (99-80%) HP:0007939
2 nystagmus 32 frequent (33%) HP:0000639
3 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
4 abnormality of retinal pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007703
5 photophobia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000613
6 corneal dystrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001131
7 abnormal electroretinogram 59 32 occasional (7.5%) Occasional (29-5%) HP:0000512
8 abnormality of macular pigmentation 32 occasional (7.5%) HP:0008002
9 myopia 32 HP:0000545
10 reduced visual acuity 32 HP:0007663
11 pendular nystagmus 32 HP:0012043

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
photophobia
myopia
reduced visual acuity
colorblindness, blue cone monochromacy type
nystagmus, pendular (primarily in childhood)
more

Clinical features from OMIM:

303700

UMLS symptoms related to Blue Cone Monochromacy:


photophobia

MGI Mouse Phenotypes related to Blue Cone Monochromacy:

46 (showing 1, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.02 CNGA3 CNGB3 NR2E3 OPN1LW RHO

Drugs & Therapeutics for Blue Cone Monochromacy

Search Clinical Trials , NIH Clinical Center for Blue Cone Monochromacy

Genetic Tests for Blue Cone Monochromacy

Anatomical Context for Blue Cone Monochromacy

MalaCards organs/tissues related to Blue Cone Monochromacy:

41
Retina, Eye, Testes

Publications for Blue Cone Monochromacy

Articles related to Blue Cone Monochromacy:

(showing 90, show less)
# Title Authors PMID Year
1
Blue cone monochromacy: causative mutations and associated phenotypes. 38 8 71
19421413 2009
2
Blue cone monochromatism: a phenotype and genotype assessment with evidence of progressive loss of cone function in older individuals. 38 8 71
15094734 2005
3
A new mechanism in blue cone monochromatism. 38 8 71
8792812 1996
4
Genetic heterogeneity among blue-cone monochromats. 38 8 71
8213841 1993
5
Molecular genetics of human blue cone monochromacy. 38 8 71
2788922 1989
6
X-linked cone dystrophy caused by mutation of the red and green cone opsins. 8 71
20579627 2010
7
Is colour vision possible with only rods and blue-sensitive cones? 8 71
1881435 1991
8
Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy. 38 8
10982039 2000
9
Gene conversion between red and defective green opsin gene in blue cone monochromacy. 38 71
8666378 1995
10
A locus control region adjacent to the human red and green visual pigment genes. 38 8
1524826 1992
11
Mapping X-linked ophthalmic diseases. III. Provisional assignment of the locus for blue cone monochromacy to Xq28. 38 8
2888453 1987
12
Cone rod dystrophies. 71
17270046 2007
13
HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. 71
11006213 2000
14
Defective colour vision associated with a missense mutation in the human green visual pigment gene. 71
1302020 1992
15
Electroretinograms in patients with achromatopsia. 8
1789084 1991
16
THE X-LINKED RECESSIVE INHERITANCE OF ATYPICAL MONOCHROMATISM. 8
14338644 1965
17
The enigma of typical total monochromacy. 8
13682677 1960
18
Novel mutations in the OPN1LW and NR2R3 genes in a patient with blue cone monochromacy. 38
30614359 2019
19
Comment: Novel mutations in the OPN1LW and NR2R3 genes in a patient with blue cone monochromacy. 38
30707043 2019
20
Blue Cone Monochromacy Caused by the C203R Missense Mutation or Large Deletion Mutations. 38
30516820 2018
21
Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease. 38
29781739 2018
22
Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy. 38
30065301 2018
23
A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report. 38
29940872 2018
24
Human S-cone electroretinograms obtained by silent substitution stimulation. 38
29603933 2018
25
Publisher Correction: Gene-based Therapy in a Mouse Model of Blue Cone Monochromacy. 38
29540812 2018
26
Human L- and M-opsins restore M-cone function in a mouse model for human blue cone monochromacy. 38
29386880 2018
27
Blue Cone Monochromatism. 38
30578487 2018
28
Gene-based Therapy in a Mouse Model of Blue Cone Monochromacy. 38
28751656 2017
29
Role of a Dual Splicing and Amino Acid Code in Myopia, Cone Dysfunction and Cone Dystrophy Associated with L/M Opsin Interchange Mutations. 38
28516000 2017
30
Myopia and Late-Onset Progressive Cone Dystrophy Associate to LVAVA/MVAVA Exon 3 Interchange Haplotypes of Opsin Genes on Chromosome X. 38
28358949 2017
31
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy. 38
27339364 2016
32
Developing an Outcome Measure With High Luminance for Optogenetics Treatment of Severe Retinal Degenerations and for Gene Therapy of Cone Diseases. 38
27309625 2016
33
The cone dysfunction syndromes. 38
25770143 2016
34
Novel OPN1LW/OPN1MW deletion mutations in 2 Japanese families with blue cone monochromacy. 38
27274860 2016
35
High-resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X-linked blue cone monochromacy. 38
26153062 2016
36
ASSESSING PHOTORECEPTOR STRUCTURE ASSOCIATED WITH ELLIPSOID ZONE DISRUPTIONS VISUALIZED WITH OPTICAL COHERENCE TOMOGRAPHY. 38
26166796 2016
37
[Preimplantation genetic diagnosis and monogenic inherited eye diseases]. 38
28224801 2016
38
Electroretinographic characteristics in children with infantile nystagmus syndrome and early-onset retinal dystrophies. 38
25096283 2015
39
Blue cone monochromacy: visual function and efficacy outcome measures for clinical trials. 38
25909963 2015
40
Vitritis in pediatric genetic retinal disorders. 38
25217415 2015
41
[Optical coherence tomography in the diagnosis of achromatopsia]. 38
24269402 2014
42
S-opsin knockout mice with the endogenous M-opsin gene replaced by an L-opsin variant. 38
24801621 2014
43
Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy. 38
24067079 2013
44
Blue cone monochromatism in a female due to skewed X-inactivation. 38
22998501 2013
45
Visual function and cortical organization in carriers of blue cone monochromacy. 38
23469117 2013
46
The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic. 38
23139274 2012
47
Clinical utility gene card for: blue cone monochromatism. 38
21267011 2011
48
Deletion of the X-linked opsin gene array locus control region (LCR) results in disruption of the cone mosaic. 38
20638402 2010
49
Variable retinal phenotypes caused by mutations in the X-linked photopigment gene array. 38
20220053 2010
50
[Achromatopsia]. 38
20533046 2010
51
Reconstructing foveal pit morphology from optical coherence tomography imaging. 38
19474001 2009
52
[Genetic causes of hereditary cone and cone-rod dystrophies]. 38
19184602 2009
53
Rod and rod-driven function in achromatopsia and blue cone monochromatism. 38
18824728 2009
54
Nystagmus characteristics in congenital stationary night blindness (CSNB). 38
18227204 2008
55
Quantitative analysis of OCT characteristics in patients with achromatopsia and blue-cone monochromatism. 38
16505054 2006
56
[Neurophysiological basis and clinical tests for assessment of X-linked color vision deficiencies in school children]. 38
16465130 2006
57
[X-linked blue cone monochromatism. A familial case report]. 38
15692892 2005
58
Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster. 38
15069569 2004
59
Molecular genetics of colour vision deficiencies. 38
15312026 2004
60
Molecular genetics of color-vision deficiencies. 38
15518188 2004
61
Characterization of a novel form of X-linked incomplete achromatopsia. 38
15518189 2004
62
The cone dysfunction syndromes. 38
14736794 2004
63
Genetics of color vision deficiencies. 38
12876837 2003
64
Clinical features of achromatopsia in Swedish patients with defined genotypes. 38
12187429 2002
65
Nystagmus. 38
11588502 2001
66
Bilateral macular atrophy in blue cone monochromacy (BCM) with loss of the locus control region (LCR) and part of the red pigment gene. 38
10427103 1999
67
Congenital motor nystagmus linked to Xq26-q27. 38
9973299 1999
68
Rod monochromatism and blue cone monochromatism: pupillary, accommodative and convergence reactions to darkness. 38
10652380 1999
69
[Severe hereditary retinal diseases in childhood]. 38
8650627 1996
70
Blue light-emitting diode built-in contact lens electrode can record human S-cone electroretinogram. 38
7601654 1995
71
[Genetics of congenital color vision defects. II. Rare types of color blindness]. 38
7637312 1995
72
Association of acquired color vision defects in blue cone monochromatism. 38
7643484 1995
73
[Differential diagnosis of cone dystrophies]. 38
7849422 1994
74
Eye movement abnormalities in carriers of blue-cone monochromatism. 38
8056533 1994
75
Eye and head movements in patients with achromatopsia. 38
7926869 1994
76
Chromosomal rearrangement segregating with adrenoleukodystrophy: associated changes in color vision. 38
8415729 1993
77
Neuro-ophthalmology. 38
1392147 1992
78
Berson test for blue cone monochromatism. 38
1452423 1992
79
[The properties of visual functions and familial analysis in blue cone monochromatism]. 38
1621595 1992
80
Japanese family with blue cone monochromatism. 38
1513061 1992
81
Adrenoleukodystrophy: a complex chromosomal rearrangement in the Xq28 red/green-color-pigment gene region indicates two possible gene localizations. 38
1746561 1991
82
Pupillary constriction to darkness in a patient with blue-cone monochromatism. 38
1827461 1991
83
The red-green visual pigment gene region in adrenoleukodystrophy. 38
2309698 1990
84
Blue cone monochromatism. 38
2795409 1989
85
Electroretinograms in carriers of blue cone monochromatism. 38
3488684 1986
86
Wavelength discrimination deteriorates with illumination in blue cone monochromats. 38
3877028 1985
87
Eye movement abnormalities in rod monochromatism and blue-cone monochromatism. 38
3874117 1985
88
Color plates to help identify patients with blue cone monochromatism. 38
6602551 1983
89
Transient tritanopia experiment in blue cone monochromacy. 38
309557 1978
90
Colour vision in blue-cone 'monochromacy'. 38
5313219 1971

Variations for Blue Cone Monochromacy

ClinVar genetic disease variations for Blue Cone Monochromacy:

6 (showing 6, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 OPN1LW ; OPN1MW ; OPSIN-LCR deletion Pathogenic
2 OPN1LW NM_020061.6(OPN1LW): c.739C> T (p.Arg247Ter) single nucleotide variant Pathogenic rs104894912 X:153420209-153420209 X:154154734-154154734
3 OPN1LW NM_020061.6(OPN1LW): c.607T> C (p.Cys203Arg) single nucleotide variant Pathogenic rs121434621 X:153420077-153420077 X:154154602-154154602
4 OPN1LW NC_000023.11 deletion Pathogenic
5 OPN1MW NM_000513.2(OPN1MW): c.607T> C (p.Cys203Arg) single nucleotide variant Pathogenic rs104894914 X:153457207-153457207 X:154191716-154191716
6 OPN1MW NM_000513.2(OPN1MW): c.529T> C (p.Trp177Arg) single nucleotide variant Pathogenic rs267606927 X:153455662-153455662 X:154190173-154190173

UniProtKB/Swiss-Prot genetic disease variations for Blue Cone Monochromacy:

74 (showing 4, show less)
# Symbol AA change Variation ID SNP ID
1 OPN1LW p.Cys203Arg VAR_009298 rs121434621
2 OPN1LW p.Pro307Leu VAR_009299 rs782797093
3 OPN1MW p.Cys203Arg VAR_004841 rs104894914
4 OPN1MW p.Trp177Arg VAR_064052 rs267606927

Expression for Blue Cone Monochromacy

Search GEO for disease gene expression data for Blue Cone Monochromacy.

Pathways for Blue Cone Monochromacy

GO Terms for Blue Cone Monochromacy

Cellular components related to Blue Cone Monochromacy according to GeneCards Suite gene sharing:

(showing 3, show less)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter complex GO:1902495 9.16 CNGB3 CNGA3
2 photoreceptor disc membrane GO:0097381 9.13 RHO OPN1MW OPN1LW
3 photoreceptor outer segment GO:0001750 8.92 RHO OPN1MW OPN1LW CNGB3

Biological processes related to Blue Cone Monochromacy according to GeneCards Suite gene sharing:

(showing 11, show less)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.88 RHO OPN1MW OPN1LW NR2E3 CNGB3 CNGA3
2 response to stimulus GO:0050896 9.63 RHO OPN1MW OPN1LW NR2E3 CNGB3 CNGA3
3 retinoid metabolic process GO:0001523 9.54 RHO OPN1MW OPN1LW
4 cellular response to light stimulus GO:0071482 9.5 RHO OPN1MW OPN1LW
5 cation transport GO:0006812 9.49 CNGB3 CNGA3
6 retina development in camera-type eye GO:0060041 9.48 RHO NR2E3
7 positive regulation of cytokinesis GO:0032467 9.46 OPN1MW OPN1LW
8 detection of visible light GO:0009584 9.43 OPN1MW OPN1LW
9 protein-chromophore linkage GO:0018298 9.43 RHO OPN1MW OPN1LW
10 phototransduction GO:0007602 9.26 RHO OPN1MW OPN1LW NR2E3
11 visual perception GO:0007601 9.1 RHO OPN1MW OPN1LW NR2E3 CNGB3 CNGA3

Molecular functions related to Blue Cone Monochromacy according to GeneCards Suite gene sharing:

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 cGMP binding GO:0030553 9.32 CNGB3 CNGA3
2 intracellular cAMP-activated cation channel activity GO:0005222 9.26 CNGB3 CNGA3
3 intracellular cGMP-activated cation channel activity GO:0005223 9.16 CNGB3 CNGA3
4 G protein-coupled photoreceptor activity GO:0008020 9.13 RHO OPN1MW OPN1LW
5 photoreceptor activity GO:0009881 8.8 RHO OPN1MW OPN1LW

Sources for Blue Cone Monochromacy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....