MCID: ACH021
MIFTS: 42

Achromatopsia 3

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Achromatopsia 3

MalaCards integrated aliases for Achromatopsia 3:

Name: Achromatopsia 3 57 12 53 75 29 6 15 73
Pingelapese Blindness 57 12 53 75
Achm3 57 12 53 75
Total Colorblindness with Myopia 57 53 75
Achromatopsia with Myopia 57 53 75
Rod Monochromacy 1, Formerly; Rmch1, Formerly 57
Rod Monochromatism 1, Formerly 57
Rod Monochromacy 1, Formerly 57
Achromatopsia, Type 3 40
Rod Monochromatism 1 12
Rod Monochromacy 1 12
Achm1, Formerly 57
Rmch1, Formerly 57
Achromatopsia-3 13
Achm1 12
Rmch1 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
achromatopsia 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Achromatopsia 3

UniProtKB/Swiss-Prot : 75 Achromatopsia 3: An autosomal recessive, ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. Achromatopsia type 3 patients manifest severe myopia.

MalaCards based summary : Achromatopsia 3, also known as pingelapese blindness, is related to achromatopsia and nystagmus 1, congenital, x-linked, and has symptoms including photophobia An important gene associated with Achromatopsia 3 is CNGB3 (Cyclic Nucleotide Gated Channel Beta 3), and among its related pathways/superpathways are CREB Pathway and G-Beta Gamma Signaling. Affiliated tissues include retina and eye, and related phenotypes are cataract and photophobia

Disease Ontology : 12 An achromatopsia that has material basis in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2.

Description from OMIM: 262300

Related Diseases for Achromatopsia 3

Diseases in the Achromatopsia family:

Achromatopsia 2 Achromatopsia 3
Achromatopsia 4 Achromatopsia 7

Diseases related to Achromatopsia 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 achromatopsia 30.3 BACE1 CNGA3 CNGB3 GNAT2 NYX RPE65
2 nystagmus 1, congenital, x-linked 11.0
3 retinitis pigmentosa 44 10.6 CNGA3 CNGB3
4 x-linked congenital stationary night blindness 10.6 CACNA1F NYX
5 oligocone trichromacy 10.6 CNGA3 CNGB3 GNAT2
6 achromatopsia 4 10.6 CNGA3 CNGB3 GNAT2
7 achromatopsia 2 10.6 CNGA3 CNGB3 TRPV1
8 night blindness, congenital stationary, type 2a 10.6 CACNA1F NYX
9 jalili syndrome 10.6 CNGA3 CNGB3 GNAT2
10 night blindness, congenital stationary, type 1e 10.6 CACNA1F NYX
11 pathologic nystagmus 10.6 CNGA3 GNAT2
12 color blindness 10.6 CNGA3 CNGB3 GNAT2
13 retinitis pigmentosa 26 10.4 CNGA3 CNGB3 GUCY2D
14 stargardt disease 1 10.4 CNGB3 CRX GNAT2
15 hereditary night blindness 10.4 CACNA1F NYX
16 enhanced s-cone syndrome 10.3 AIPL1 CNGA3 CRX
17 choroid disease 10.3 CNGB3 RPE65
18 leber congenital amaurosis 12 10.3 GUCY2D RPE65
19 cone-rod dystrophy 6 10.3 CNGA3 CNGB3 GNAT2 GUCY2D
20 ocular hyperemia 10.1 RPE65 TRPV1
21 aland island eye disease 10.1 CACNA1F NYX RPE65
22 yemenite deaf-blind hypopigmentation syndrome 10.1 AIPL1 GUCY2D RPE65
23 prolonged electroretinal response suppression 10.1 CRB1 CRX GUCY2D
24 red-green color blindness 10.0 CNGB3 RPE65
25 night blindness 10.0 CACNA1F NYX RPE65
26 stargardt disease 9.9 CNGB3 CRB1 GNAT2 RPE65
27 disease of mental health 9.9 BACE1 HTR2C TRPV1
28 leber congenital amaurosis 4 9.7 AIPL1 CRX GUCY2D RPE65
29 retinitis pigmentosa 33 9.7 BACE1 CNGA3
30 congenital stationary night blindness 9.6 AIPL1 CACNA1F CNGB3 NYX RPE65
31 retinoschisis 1, x-linked, juvenile 9.5 CNGB3 CRB1 CRX NYX RPE65
32 acquired metabolic disease 9.4 BACE1 MC4R TRPV1
33 overnutrition 9.3 AGRP MC4R TRPV1
34 keratoconus 9.3 AIPL1 CRB1 CRX GUCY2D RPE65
35 leber congenital amaurosis 9 8.7 AIPL1 CRB1 CRX GUCY2D RPE65 RPGRIP1
36 retinal degeneration 8.7 AIPL1 CRB1 CRX GUCY2D RPE65 RPGRIP1
37 leber congenital amaurosis 8.2 AIPL1 CNGA3 CNGB3 CRB1 CRX GUCY2D
38 fundus dystrophy 7.9 AIPL1 CNGA3 CNGB3 CRB1 CRX GNAT2
39 cone-rod dystrophy 2 7.9 AIPL1 CACNA1F CNGB3 CRB1 CRX GNAT2
40 retinitis pigmentosa 7.8 AIPL1 CACNA1F CNGA3 CRB1 CRX GUCY2D
41 retinal disease 7.6 AIPL1 CACNA1F CNGA3 CNGB3 CRB1 CRX

Graphical network of the top 20 diseases related to Achromatopsia 3:



Diseases related to Achromatopsia 3

Symptoms & Phenotypes for Achromatopsia 3

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
horizontal pendular nystagmus
photophobia
amaurosis
colorblindness
congenital complete achromatopsia
more

Clinical features from OMIM:

262300

Human phenotypes related to Achromatopsia 3:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 cataract 32 HP:0000518
2 photophobia 32 HP:0000613
3 dyschromatopsia 32 HP:0007641
4 severe visual impairment 32 HP:0001141
5 monochromacy 32 HP:0007803
6 high myopia 32 HP:0011003
7 horizontal pendular nystagmus 32 HP:0007811
8 achromatopsia 32 HP:0011516

UMLS symptoms related to Achromatopsia 3:


photophobia

GenomeRNAi Phenotypes related to Achromatopsia 3 according to GeneCards Suite gene sharing:

26 (show all 25)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.83 CNGA3 HTR2C CACNA1F
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.83 CNGA3 CRX HTR2C RPGRIP1 CACNA1F
3 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.83 HTR2C
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.83 CNGA3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.83 CACNA1F
6 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.83 HTR2C
7 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.83 CRX
8 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.83 RPGRIP1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.83 CRX
10 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.83 CRX
11 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.83 RPGRIP1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.83 CACNA1F
13 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.83 CACNA1F
14 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.83 RPGRIP1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.83 HTR2C
16 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.83 CNGA3
17 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.83 RPGRIP1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.83 RPGRIP1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.83 CACNA1F
20 Increased shRNA abundance (Z-score > 2) GR00366-A-51 9.83 RPGRIP1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.83 HTR2C
22 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.83 CACNA1F
23 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.83 HTR2C
24 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.83 CRX
25 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.83 CRX RPGRIP1

MGI Mouse Phenotypes related to Achromatopsia 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.09 GNAT2 GUCY2D HTR2C MC4R RPE65 RPGRIP1
2 behavior/neurological MP:0005386 9.96 CRHR1 CRX GUCY2D HTR2C MC4R RPE65
3 vision/eye MP:0005391 9.44 AIPL1 CACNA1F CNGA3 CNGB3 CRB1 CRHR1
4 pigmentation MP:0001186 9.35 CRB1 CRX HTR2C RPE65 TULP1

Drugs & Therapeutics for Achromatopsia 3

Search Clinical Trials , NIH Clinical Center for Achromatopsia 3

Genetic Tests for Achromatopsia 3

Genetic tests related to Achromatopsia 3:

# Genetic test Affiliating Genes
1 Achromatopsia 3 29 CNGB3

Anatomical Context for Achromatopsia 3

MalaCards organs/tissues related to Achromatopsia 3:

41
Retina, Eye

Publications for Achromatopsia 3

Variations for Achromatopsia 3

UniProtKB/Swiss-Prot genetic disease variations for Achromatopsia 3:

75
# Symbol AA change Variation ID SNP ID
1 CNGB3 p.Ser435Phe VAR_018111 rs121918344
2 CNGB3 p.Lys148Glu VAR_047609 rs369138501
3 CNGB3 p.Ser156Phe VAR_047610 rs139207764
4 CNGB3 p.Pro309Leu VAR_047612
5 CNGB3 p.Phe525Asn VAR_047618
6 CNGB3 p.Gly558Cys VAR_047619 rs749413012
7 CNGB3 p.Leu595Phe VAR_047620

ClinVar genetic disease variations for Achromatopsia 3:

6
(show top 50) (show all 212)
# Gene Variation Type Significance SNP ID Assembly Location
1 CNGB3 NM_019098.4(CNGB3): c.607C> T (p.Arg203Ter) single nucleotide variant Likely pathogenic rs267606739 GRCh37 Chromosome 8, 87680283: 87680283
2 CNGB3 NM_019098.4(CNGB3): c.1304C> T (p.Ser435Phe) single nucleotide variant Pathogenic rs121918344 GRCh37 Chromosome 8, 87644996: 87644996
3 CNGB3 NM_019098.4(CNGB3): c.1304C> T (p.Ser435Phe) single nucleotide variant Pathogenic rs121918344 GRCh38 Chromosome 8, 86632768: 86632768
4 CNGB3 NM_019098.4(CNGB3): c.607C> T (p.Arg203Ter) single nucleotide variant Likely pathogenic rs267606739 GRCh38 Chromosome 8, 86668055: 86668055
5 CNGB3 CNGB3, 1-BP INS, 492T insertion Pathogenic
6 CNGB3 CNGB3, 8-BP DEL, NT819 deletion Pathogenic
7 CNGB3 NM_019098.4(CNGB3): c.1578+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs372006750 GRCh38 Chromosome 8, 86625982: 86625982
8 CNGB3 NM_019098.4(CNGB3): c.1578+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs372006750 GRCh37 Chromosome 8, 87638210: 87638210
9 CNGB3 NM_019098.4(CNGB3): c.1119G> A (p.Trp373Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204762 GRCh37 Chromosome 8, 87656038: 87656038
10 CNGB3 NM_019098.4(CNGB3): c.1119G> A (p.Trp373Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204762 GRCh38 Chromosome 8, 86643810: 86643810
11 CNGB3 NM_019098.4(CNGB3): c.1006G> T (p.Glu336Ter) single nucleotide variant Likely pathogenic rs373862340 GRCh37 Chromosome 8, 87656899: 87656899
12 CNGB3 NM_019098.4(CNGB3): c.1006G> T (p.Glu336Ter) single nucleotide variant Likely pathogenic rs373862340 GRCh38 Chromosome 8, 86644671: 86644671
13 CNGB3 NM_019098.4(CNGB3): c.991-3T> G single nucleotide variant Likely pathogenic rs773372519 GRCh37 Chromosome 8, 87656917: 87656917
14 CNGB3 NM_019098.4(CNGB3): c.991-3T> G single nucleotide variant Likely pathogenic rs773372519 GRCh38 Chromosome 8, 86644689: 86644689
15 CNGB3 NM_019098.4(CNGB3): c.646C> T (p.Arg216Ter) single nucleotide variant Likely pathogenic rs768345097 GRCh37 Chromosome 8, 87679359: 87679359
16 CNGB3 NM_019098.4(CNGB3): c.646C> T (p.Arg216Ter) single nucleotide variant Likely pathogenic rs768345097 GRCh38 Chromosome 8, 86667131: 86667131
17 CNGB3 NM_019098.4(CNGB3): c.644-1G> C single nucleotide variant Likely pathogenic rs201794629 GRCh37 Chromosome 8, 87679362: 87679362
18 CNGB3 NM_019098.4(CNGB3): c.644-1G> C single nucleotide variant Likely pathogenic rs201794629 GRCh38 Chromosome 8, 86667134: 86667134
19 CNGB3 NM_019098.4(CNGB3): c.391C> T (p.Gln131Ter) single nucleotide variant Likely pathogenic rs786204492 GRCh37 Chromosome 8, 87683274: 87683274
20 CNGB3 NM_019098.4(CNGB3): c.391C> T (p.Gln131Ter) single nucleotide variant Likely pathogenic rs786204492 GRCh38 Chromosome 8, 86671046: 86671046
21 CNGB3 NM_019098.4(CNGB3): c.112C> T (p.Gln38Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204498 GRCh38 Chromosome 8, 86743516: 86743516
22 CNGB3 NM_019098.4(CNGB3): c.112C> T (p.Gln38Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204498 GRCh37 Chromosome 8, 87755744: 87755744
23 CNGB3 NM_019098.4(CNGB3): c.1397T> C (p.Met466Thr) single nucleotide variant Benign rs35010099 GRCh37 Chromosome 8, 87641230: 87641230
24 CNGB3 NM_019098.4(CNGB3): c.1397T> C (p.Met466Thr) single nucleotide variant Benign rs35010099 GRCh38 Chromosome 8, 86629002: 86629002
25 CNGB3 NM_019098.4(CNGB3): c.886_896delACTTCTACAAAinsT (p.Thr296Tyrfs) indel Likely pathogenic rs886063161 GRCh37 Chromosome 8, 87666247: 87666257
26 CNGB3 NM_019098.4(CNGB3): c.886_896delACTTCTACAAAinsT (p.Thr296Tyrfs) indel Likely pathogenic rs886063161 GRCh38 Chromosome 8, 86654019: 86654029
27 CNGB3 NM_019098.4(CNGB3): c.1937delT (p.Leu646Terfs) deletion Likely pathogenic rs745557293 GRCh38 Chromosome 8, 86578855: 86578855
28 CNGB3 NM_019098.4(CNGB3): c.1937delT (p.Leu646Terfs) deletion Likely pathogenic rs745557293 GRCh37 Chromosome 8, 87591083: 87591083
29 CNGB3 NM_019098.4(CNGB3): c.1929-2A> G single nucleotide variant Likely pathogenic rs1057517388 GRCh38 Chromosome 8, 86578865: 86578865
30 CNGB3 NM_019098.4(CNGB3): c.1929-2A> G single nucleotide variant Likely pathogenic rs1057517388 GRCh37 Chromosome 8, 87591093: 87591093
31 CNGB3 NM_019098.4(CNGB3): c.1928+2T> C single nucleotide variant Likely pathogenic rs1057517454 GRCh38 Chromosome 8, 86579104: 86579104
32 CNGB3 NM_019098.4(CNGB3): c.1928+2T> C single nucleotide variant Likely pathogenic rs1057517454 GRCh37 Chromosome 8, 87591332: 87591332
33 CNGB3 NM_019098.4(CNGB3): c.1908delG (p.Ile637Serfs) deletion Likely pathogenic rs1057516571 GRCh38 Chromosome 8, 86579126: 86579126
34 CNGB3 NM_019098.4(CNGB3): c.1908delG (p.Ile637Serfs) deletion Likely pathogenic rs1057516571 GRCh37 Chromosome 8, 87591354: 87591354
35 CNGB3 NM_019098.4(CNGB3): c.1579-1G> A single nucleotide variant Likely pathogenic rs1057516504 GRCh38 Chromosome 8, 86611672: 86611672
36 CNGB3 NM_019098.4(CNGB3): c.1579-1G> A single nucleotide variant Likely pathogenic rs1057516504 GRCh37 Chromosome 8, 87623900: 87623900
37 CNGB3 NM_019098.4(CNGB3): c.1480+1G> A single nucleotide variant Likely pathogenic rs1057516825 GRCh38 Chromosome 8, 86628918: 86628918
38 CNGB3 NM_019098.4(CNGB3): c.1480+1G> A single nucleotide variant Likely pathogenic rs1057516825 GRCh37 Chromosome 8, 87641146: 87641146
39 CNGB3 NM_019098.4(CNGB3): c.1366delC (p.Arg456Alafs) deletion Likely pathogenic rs1057516878 GRCh37 Chromosome 8, 87641261: 87641261
40 CNGB3 NM_019098.4(CNGB3): c.1366delC (p.Arg456Alafs) deletion Likely pathogenic rs1057516878 GRCh38 Chromosome 8, 86629033: 86629033
41 CNGB3 NM_019098.4(CNGB3): c.1260delT (p.Ile420Metfs) deletion Likely pathogenic rs1057516866 GRCh38 Chromosome 8, 86632812: 86632812
42 CNGB3 NM_019098.4(CNGB3): c.1260delT (p.Ile420Metfs) deletion Likely pathogenic rs1057516866 GRCh37 Chromosome 8, 87645040: 87645040
43 CNGB3 NM_019098.4(CNGB3): c.1179-2A> T single nucleotide variant Likely pathogenic rs1057517167 GRCh38 Chromosome 8, 86632895: 86632895
44 CNGB3 NM_019098.4(CNGB3): c.1179-2A> T single nucleotide variant Likely pathogenic rs1057517167 GRCh37 Chromosome 8, 87645123: 87645123
45 CNGB3 NM_019098.4(CNGB3): c.567delG (p.Trp189Cysfs) deletion Likely pathogenic rs1057517052 GRCh38 Chromosome 8, 86668095: 86668095
46 CNGB3 NM_019098.4(CNGB3): c.567delG (p.Trp189Cysfs) deletion Likely pathogenic rs1057517052 GRCh37 Chromosome 8, 87680323: 87680323
47 CNGB3 NM_019098.4(CNGB3): c.556_559delAGGC (p.Arg186Cysfs) deletion Likely pathogenic rs1057517053 GRCh38 Chromosome 8, 86668103: 86668106
48 CNGB3 NM_019098.4(CNGB3): c.556_559delAGGC (p.Arg186Cysfs) deletion Likely pathogenic rs1057517053 GRCh37 Chromosome 8, 87680331: 87680334
49 CNGB3 NM_019098.4(CNGB3): c.446_447insT (p.Lys149Asnfs) insertion Likely pathogenic rs748993388 GRCh38 Chromosome 8, 86670990: 86670991
50 CNGB3 NM_019098.4(CNGB3): c.446_447insT (p.Lys149Asnfs) insertion Likely pathogenic rs748993388 GRCh37 Chromosome 8, 87683218: 87683219

Expression for Achromatopsia 3

Search GEO for disease gene expression data for Achromatopsia 3.

Pathways for Achromatopsia 3

GO Terms for Achromatopsia 3

Cellular components related to Achromatopsia 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.87 BACE1 CNGA3 CNGB3 CRHR1 GUCY2D HTR2C
2 neuronal cell body GO:0043025 9.67 AGRP CACNA1F CNGA3 TRPV1
3 intrinsic component of plasma membrane GO:0031226 9.43 CRHR1 TRPV1
4 photoreceptor outer segment membrane GO:0042622 9.26 CNGA3 GNAT2
5 photoreceptor outer segment GO:0001750 9.26 CACNA1F CNGB3 GNAT2 TULP1
6 transmembrane transporter complex GO:1902495 9.16 CNGA3 CNGB3
7 photoreceptor inner segment GO:0001917 8.92 AIPL1 CRB1 GNAT2 TULP1
8 plasma membrane GO:0005886 10.14 BACE1 CACNA1F CRB1 CRHR1 GNAT2 GUCY2D

Biological processes related to Achromatopsia 3 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.7 AIPL1 CACNA1F CNGA3 CNGB3 CRX GNAT2
2 circadian rhythm GO:0007623 9.65 AGRP CRX RPE65
3 retina development in camera-type eye GO:0060041 9.58 RPE65 RPGRIP1 TULP1
4 feeding behavior GO:0007631 9.54 AGRP HTR2C MC4R
5 retina homeostasis GO:0001895 9.5 AIPL1 RPE65 TULP1
6 cGMP biosynthetic process GO:0006182 9.49 GUCY2D HTR2C
7 regulation of feeding behavior GO:0060259 9.46 AGRP MC4R
8 detection of light stimulus involved in visual perception GO:0050908 9.46 CACNA1F GNAT2 RPE65 TULP1
9 diet induced thermogenesis GO:0002024 9.43 MC4R TRPV1
10 eye photoreceptor cell development GO:0042462 9.43 CRB1 RPGRIP1 TULP1
11 visual perception GO:0007601 9.36 AIPL1 CACNA1F CNGA3 CNGB3 CRX GNAT2

Molecular functions related to Achromatopsia 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.43 CACNA1F CNGA3 TRPV1
2 cGMP binding GO:0030553 9.16 CNGA3 CNGB3
3 intracellular cAMP activated cation channel activity GO:0005222 8.96 CNGA3 CNGB3
4 intracellular cGMP activated cation channel activity GO:0005223 8.62 CNGA3 CNGB3

Sources for Achromatopsia 3

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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