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SMC2
MCID: SMT018
MIFTS: 34

Smith-Mccort Dysplasia 2 (SMC2)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Smith-Mccort Dysplasia 2

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MalaCards integrated aliases for Smith-Mccort Dysplasia 2:

Name: Smith-Mccort Dysplasia 2 57 73 29 13 6 71
Smc2 57 73
Dysplasia, Smith-Mccort, Type 2 39

Characteristics:

OMIM®:

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


HPO:

31
smith-mccort dysplasia 2:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM® 57 615222
OMIM Phenotypic Series 57 PS607326
MeSH 44 D010009
UMLS 71 C3714896
Sources

Summaries for Smith-Mccort Dysplasia 2

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OMIM® : 57 Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening, and specific radiologic features including marked platyspondyly with double-humped end-plates, kyphoscoliosis, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small pelvis with a lace-like appearance of iliac crests. These clinical and radiologic features are also common to Dyggve-Melchior-Clausen syndrome (DMC; 223800), which is distinguished from SMC by the additional feature of mental retardation (summary by Dupuis et al., 2013). For a discussion of genetic heterogeneity of Smith-McCort dysplasia, see SMC1 (607326). (615222) (Updated 05-Mar-2021)

MalaCards based summary : Smith-Mccort Dysplasia 2, also known as smc2, is related to pleural empyema and cornelia de lange syndrome. An important gene associated with Smith-Mccort Dysplasia 2 is RAB33B (RAB33B, Member RAS Oncogene Family). Affiliated tissues include breast, skin and prostate, and related phenotypes are short neck and pectus carinatum

UniProtKB/Swiss-Prot : 73 Smith-McCort dysplasia 2: A rare autosomal recessive osteochondrodysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen syndrome, but with normal intelligence and no microcephaly. It is characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest.

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Related Diseases for Smith-Mccort Dysplasia 2

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Diseases in the Smith-Mccort Dysplasia 1 family:

Smith-Mccort Dysplasia 2

Diseases related to Smith-Mccort Dysplasia 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pleural empyema 11.0
2 cornelia de lange syndrome 11.0
3 pancreatic cancer 9.9
4 neuroblastoma 9.9
5 argyria 9.9

Graphical network of the top 20 diseases related to Smith-Mccort Dysplasia 2:



Diseases related to Smith-Mccort Dysplasia 2
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Symptoms & Phenotypes for Smith-Mccort Dysplasia 2

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Human phenotypes related to Smith-Mccort Dysplasia 2:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 short neck 31 HP:0000470
2 pectus carinatum 31 HP:0000768
3 pes planus 31 HP:0001763
4 genu valgum 31 HP:0002857
5 disproportionate short-trunk short stature 31 HP:0003521
6 platyspondyly 31 HP:0000926
7 decreased body weight 31 HP:0004325
8 short metacarpal 31 HP:0010049
9 hypoplasia of the odontoid process 31 HP:0003311
10 short phalanx of finger 31 HP:0009803
11 short metatarsal 31 HP:0010743
12 flattened epiphysis 31 HP:0003071
13 broad metatarsal 31 HP:0001783
14 flattened femoral head 31 HP:0008812
15 broad femoral neck 31 HP:0006429
16 metaphyseal irregularity 31 HP:0003025
17 barrel-shaped chest 31 HP:0001552
18 broad phalanx 31 HP:0006009

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Neck:
short neck

Growth Height:
short stature

Skeletal Spine:
platyspondyly
exaggerated lordosis
posterior double humps of vertebral body
irregular surface of iliac spine
odontoid hypoplasia, mild

Skeletal Feet:
flat feet
short phalanges
broad phalanges
prominent heels
short metatarsal bones
more
Growth Weight:
low weight

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum

Skeletal Limbs:
genu valgum
flattened femoral heads
elevated shoulder joints
limited extension of elbow joints
broad femoral neck, mild
more
Chest External Features:
barrel-shaped chest
short trunk

Skeletal Hands:
short phalanges
broad phalanges
short metacarpal bones
broad metacarpal bones
broad interphalangeal joints

Clinical features from OMIM®:

615222 (Updated 05-Mar-2021)

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Drugs & Therapeutics for Smith-Mccort Dysplasia 2

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Search Clinical Trials , NIH Clinical Center for Smith-Mccort Dysplasia 2

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Genetic Tests for Smith-Mccort Dysplasia 2

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Genetic tests related to Smith-Mccort Dysplasia 2:

# Genetic test Affiliating Genes
1 Smith-Mccort Dysplasia 2 29 RAB33B
Sources

Anatomical Context for Smith-Mccort Dysplasia 2

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MalaCards organs/tissues related to Smith-Mccort Dysplasia 2:

40
Breast, Skin, Prostate, Brain, Smooth Muscle, Liver
Sources

Publications for Smith-Mccort Dysplasia 2

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Articles related to Smith-Mccort Dysplasia 2:

(show top 50) (show all 121)
# Title Authors PMID Year
1
Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations. 57 6
28127940 2017
2
A novel RAB33B mutation in Smith-McCort dysplasia. 57 6
23042644 2013
3
Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve--Melchior--Clausen locus. 57 6
22652534 2012
4
Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia. 57 6
16470731 2006
5
Prospective pathway signaling and prognostic values of MicroRNA-9 in ovarian cancer based on gene expression omnibus (GEO): a bioinformatics analysis. 61
33563317 2021
6
Genome-wide scan of long noncoding RNA single nucleotide polymorphisms and pancreatic cancer susceptibility. 61
33534179 2021
7
Prognostic relevance of SMC family gene expression in human sarcoma. 61
33460400 2020
8
Hyperosmotic stress: in situ chromatin phase separation. 61
31924112 2020
9
A Transcriptome-Wide Association Study Identifies Candidate Susceptibility Genes for Pancreatic Cancer Risk. 61
32907841 2020
10
A Transcriptome-Wide Association Study Identifies Novel Candidate Susceptibility Genes for Pancreatic Cancer. 61
31917448 2020
11
Identification of novel biomarkers involved in pulmonary arterial hypertension based on multiple-microarray analysis. 61
32886110 2020
12
Integrative analyses of gene expression profile reveal potential crucial roles of mitotic cell cycle and microtubule cytoskeleton in pulmonary artery hypertension. 61
32586319 2020
13
The condensin subunits SMC2 and SMC4 interact for correct condensation and segregation of mitotic maize chromosomes. 61
31816133 2020
14
Structural maintenance of chromosomes 2 is identified as an oncogene in bladder cancer in vitro and in vivo. 61
31986889 2020
15
Plasmodium Condensin Core Subunits SMC2/SMC4 Mediate Atypical Mitosis and Are Essential for Parasite Proliferation and Transmission. 61
32049018 2020
16
Intracellular Delivery of Anti-SMC2 Antibodies against Cancer Stem Cells. 61
32098204 2020
17
Screening and Identification of Therapeutic Targets for Pulmonary Arterial Hypertension Through Microarray Technology. 61
32849793 2020
18
The plasma peptides of sepsis. 61
32636717 2020
19
Development of a novel six-long noncoding RNA signature predicting survival of patients with bladder urothelial carcinoma. 61
31338862 2019
20
Diminished Condensin Gene Expression Drives Chromosome Instability That May Contribute to Colorectal Cancer Pathogenesis. 61
31357676 2019
21
MicroRNA-374a, -4680, and -133b suppress cell proliferation through the regulation of genes associated with human cleft palate in cultured human palate cells. 61
31262291 2019
22
Potential functional variants in SMC2 and TP53 in the AURORA pathway genes and risk of pancreatic cancer. 61
30794721 2019
23
Structural Basis of an Asymmetric Condensin ATPase Cycle. 61
31226277 2019
24
A specialized condensin complex participates in somatic nuclear maturation in Tetrahymena thermophila. 61
30893010 2019
25
Structural basis of HEAT-kleisin interactions in the human condensin I subcomplex. 61
30858338 2019
26
Novel spiral mapping catheter facilitates observation of the time-to-pulmonary vein isolation during cryoballoon ablation. 61
30302548 2019
27
Quantitative Proteomics of the Mitotic Chromosome Scaffold Reveals the Association of BAZ1B with Chromosomal Axes. 61
33451429 2019
28
Quantitative Proteomics of the Mitotic Chromosome Scaffold Reveals the Association of BAZ1B with Chromosomal Axes. 61
30266865 2019
29
Cell cycle regulation of condensin Smc4. 61
30719224 2019
30
The proteomic study of serially passaged human skin fibroblast cells uncovers down-regulation of the chromosome condensin complex proteins involved in replicative senescence. 61
30336977 2018
31
Cdk phosphorylation licenses Kif4A chromosome localization required for early mitotic progression. 61
29771379 2018
32
Ki-67 and condensins support the integrity of mitotic chromosomes through distinct mechanisms. 61
29487178 2018
33
Human Papillomavirus E6 interaction with cellular PDZ domain proteins modulates YAP nuclear localization. 61
29346075 2018
34
Gene expression profiles in mouse cumulus cells derived from in vitro matured oocytes with and without blastocyst formation. 61
28583421 2017
35
The human Cranio Facial Development Protein 1 (Cfdp1) gene encodes a protein required for the maintenance of higher-order chromatin organization. 61
28367969 2017
36
Transcriptome analysis of neo-tetraploid rice reveals specific differential gene expressions associated with fertility and heterosis. 61
28071676 2017
37
Nesprin-2 Interacts with Condensin Component SMC2. 61
29445399 2017
38
Replication, checkpoint suppression and structure of centromeric DNA. 61
27893298 2016
39
Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types. 61
27432226 2016
40
Proteomics Analysis with a Nano Random Forest Approach Reveals Novel Functional Interactions Regulated by SMC Complexes on Mitotic Chromosomes. 61
27231315 2016
41
Alive SMC(2) : Bayesian model selection for low-count time series models with intractable likelihoods. 61
26584211 2016
42
Centromeric DNA replication reconstitution reveals DNA loops and ATR checkpoint suppression. 61
27111843 2016
43
Condensin Smc2-Smc4 Dimers Are Flexible and Dynamic. 61
26904946 2016
44
A genome landscape of SRSF3-regulated splicing events and gene expression in human osteosarcoma U2OS cells. 61
26704980 2016
45
Exposure to fluorescent light triggers down regulation of genes involved with mitotic progression in Xiphophorus skin. 61
26334372 2015
46
Quantitative Proteomics Reveals That the Inhibition of Na(+)/K(+)-ATPase Activity Affects S-Phase Progression Leading to a Chromosome Segregation Disorder by Attenuating the Aurora A Function in Hepatocellular Carcinoma Cells. 61
26491887 2015
47
Widespread Positive Selection Drives Differentiation of Centromeric Proteins in the Drosophila melanogaster subgroup. 61
26603658 2015
48
Three-dimensional topology of the SMC2/SMC4 subcomplex from chicken condensin I revealed by cross-linking and molecular modelling. 61
25716199 2015
49
Patients carrying 9q31.1-q32 deletion share common features with Cornelia de Lange Syndrome. 61
25591769 2015
50
Defective histone supply causes condensin-dependent chromatin alterations, SAC activation and chromosome decatenation impairment. 61
25300489 2014
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Variations for Smith-Mccort Dysplasia 2

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ClinVar genetic disease variations for Smith-Mccort Dysplasia 2:

6 (show top 50) (show all 71)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RAB33B NM_031296.3(RAB33B):c.136A>C (p.Lys46Gln) SNV Pathogenic 50230 rs587776958 4:140375485-140375485 4:139454331-139454331
2 RAB33B NM_031296.3(RAB33B):c.444T>A (p.Asn148Lys) SNV Pathogenic 50231 rs886044716 4:140394034-140394034 4:139472880-139472880
3 RAB33B NM_031296.3(RAB33B):c.365T>C (p.Phe122Ser) SNV Pathogenic 425561 rs1085307129 4:140393955-140393955 4:139472801-139472801
4 RAB33B NM_031296.3(RAB33B):c.48_55del (p.Gly17fs) Deletion Pathogenic 425562 rs1085307130 4:140375394-140375401 4:139454240-139454247
5 RAB33B NM_031296.3(RAB33B):c.211C>T (p.Arg71Ter) SNV Pathogenic 425560 rs1085307128 4:140375560-140375560 4:139454406-139454406
6 RAB33B NM_031296.3(RAB33B):c.490C>T (p.Gln164Ter) SNV Pathogenic 425563 rs1085307131 4:140394080-140394080 4:139472926-139472926
7 RAB33B NM_031296.3(RAB33B):c.186del (p.Glu63fs) Deletion Likely pathogenic 599277 rs1561002040 4:140375534-140375534 4:139454380-139454380
8 RAB33B NM_031296.3(RAB33B):c.*425T>C SNV Uncertain significance 900305 4:140394705-140394705 4:139473551-139473551
9 RAB33B NM_031296.3(RAB33B):c.*2355T>A SNV Uncertain significance 900363 4:140396635-140396635 4:139475481-139475481
10 RAB33B NM_031296.3(RAB33B):c.*2359T>A SNV Uncertain significance 900364 4:140396639-140396639 4:139475485-139475485
11 RAB33B NM_031296.3(RAB33B):c.*2391C>T SNV Uncertain significance 900365 4:140396671-140396671 4:139475517-139475517
12 RAB33B NM_031296.3(RAB33B):c.*2522A>C SNV Uncertain significance 900366 4:140396802-140396802 4:139475648-139475648
13 RAB33B NM_031296.3(RAB33B):c.201G>A (p.Gly67=) SNV Uncertain significance 901355 4:140375550-140375550 4:139454396-139454396
14 RAB33B NM_031296.3(RAB33B):c.*780T>C SNV Uncertain significance 901409 4:140395060-140395060 4:139473906-139473906
15 RAB33B NM_031296.3(RAB33B):c.*924G>A SNV Uncertain significance 901410 4:140395204-140395204 4:139474050-139474050
16 RAB33B NM_031296.3(RAB33B):c.*1157T>G SNV Uncertain significance 901411 4:140395437-140395437 4:139474283-139474283
17 RAB33B NM_031296.3(RAB33B):c.530C>T (p.Thr177Met) SNV Uncertain significance 901955 4:140394120-140394120 4:139472966-139472966
18 RAB33B NM_031296.3(RAB33B):c.600G>A (p.Lys200=) SNV Uncertain significance 901956 4:140394190-140394190 4:139473036-139473036
19 RAB33B NM_031296.3(RAB33B):c.*1235G>A SNV Uncertain significance 902031 4:140395515-140395515 4:139474361-139474361
20 RAB33B NM_031296.3(RAB33B):c.*1322C>G SNV Uncertain significance 902032 4:140395602-140395602 4:139474448-139474448
21 RAB33B NM_031296.3(RAB33B):c.*1455A>G SNV Uncertain significance 902033 4:140395735-140395735 4:139474581-139474581
22 RAB33B NM_031296.3(RAB33B):c.613T>C (p.Leu205=) SNV Uncertain significance 902855 4:140394203-140394203 4:139473049-139473049
23 RAB33B NM_031296.3(RAB33B):c.678G>A (p.Thr226=) SNV Uncertain significance 902856 4:140394268-140394268 4:139473114-139473114
24 RAB33B NM_031296.3(RAB33B):c.*1A>G SNV Uncertain significance 902857 4:140394281-140394281 4:139473127-139473127
25 RAB33B NM_031296.3(RAB33B):c.*146T>A SNV Uncertain significance 902858 4:140394426-140394426 4:139473272-139473272
26 RAB33B NM_031296.3(RAB33B):c.*161C>T SNV Uncertain significance 902859 4:140394441-140394441 4:139473287-139473287
27 RAB33B NM_031296.3(RAB33B):c.*1925A>G SNV Uncertain significance 902918 4:140396205-140396205 4:139475051-139475051
28 RAB33B NM_031296.3(RAB33B):c.*1949A>C SNV Uncertain significance 902919 4:140396229-140396229 4:139475075-139475075
29 RAB33B NM_031296.3(RAB33B):c.*2130G>A SNV Uncertain significance 902920 4:140396410-140396410 4:139475256-139475256
30 RAB33B NM_031296.3(RAB33B):c.*2271A>C SNV Uncertain significance 902921 4:140396551-140396551 4:139475397-139475397
31 RAB33B NM_031296.3(RAB33B):c.*2327G>A SNV Uncertain significance 347591 rs755193519 4:140396607-140396607 4:139475453-139475453
32 RAB33B NM_031296.3(RAB33B):c.*2754C>G SNV Uncertain significance 901473 4:140397034-140397034 4:139475880-139475880
33 RAB33B NM_031296.3(RAB33B):c.249+10T>C SNV Uncertain significance 347563 rs747305009 4:140375608-140375608 4:139454454-139454454
34 RAB33B NM_031296.3(RAB33B):c.*701G>T SNV Uncertain significance 347577 rs187434569 4:140394981-140394981 4:139473827-139473827
35 RAB33B NM_031296.3(RAB33B):c.*1310G>A SNV Uncertain significance 347583 rs886059082 4:140395590-140395590 4:139474436-139474436
36 RAB33B NM_031296.3(RAB33B):c.128A>G (p.Asn43Ser) SNV Uncertain significance 347561 rs371561776 4:140375477-140375477 4:139454323-139454323
37 RAB33B NM_031296.3(RAB33B):c.432T>C (p.Ile144=) SNV Uncertain significance 347566 rs769999843 4:140394022-140394022 4:139472868-139472868
38 RAB33B NM_031296.3(RAB33B):c.*1819A>G SNV Uncertain significance 347586 rs557693738 4:140396099-140396099 4:139474945-139474945
39 RAB33B NM_031296.3(RAB33B):c.*118T>G SNV Uncertain significance 347569 rs886059077 4:140394398-140394398 4:139473244-139473244
40 RAB33B NM_031296.3(RAB33B):c.*494A>C SNV Uncertain significance 347572 rs886059079 4:140394774-140394774 4:139473620-139473620
41 RAB33B NM_031296.3(RAB33B):c.*764G>A SNV Uncertain significance 347578 rs886059081 4:140395044-140395044 4:139473890-139473890
42 RAB33B NM_031296.3(RAB33B):c.*2599A>G SNV Uncertain significance 347592 rs886059085 4:140396879-140396879 4:139475725-139475725
43 RAB33B NM_031296.3(RAB33B):c.553A>G (p.Asn185Asp) SNV Uncertain significance 347567 rs747031994 4:140394143-140394143 4:139472989-139472989
44 RAB33B NM_031296.3(RAB33B):c.*219A>G SNV Uncertain significance 347570 rs886059078 4:140394499-140394499 4:139473345-139473345
45 RAB33B NM_031296.3(RAB33B):c.-48C>T SNV Uncertain significance 347559 rs748718122 4:140375302-140375302 4:139454148-139454148
46 RAB33B NM_031296.3(RAB33B):c.*632A>G SNV Uncertain significance 347576 rs886059080 4:140394912-140394912 4:139473758-139473758
47 RAB33B NM_031296.3(RAB33B):c.*776C>T SNV Uncertain significance 347579 rs77490600 4:140395056-140395056 4:139473902-139473902
48 RAB33B NM_031296.3(RAB33B):c.*1994T>A SNV Uncertain significance 347588 rs886059084 4:140396274-140396274 4:139475120-139475120
49 RAB33B NM_031296.3(RAB33B):c.135C>G (p.Gly45=) SNV Uncertain significance 347562 rs138534367 4:140375484-140375484 4:139454330-139454330
50 RAB33B NM_031296.3(RAB33B):c.336C>T (p.Phe112=) SNV Uncertain significance 347564 rs142541603 4:140393926-140393926 4:139472772-139472772

UniProtKB/Swiss-Prot genetic disease variations for Smith-Mccort Dysplasia 2:

73
# Symbol AA change Variation ID SNP ID
1 RAB33B p.Lys46Gln VAR_068854 rs587776958
2 RAB33B p.Asn148Lys VAR_068855 rs886044716

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Expression for Smith-Mccort Dysplasia 2

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Search GEO for disease gene expression data for Smith-Mccort Dysplasia 2.
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Pathways for Smith-Mccort Dysplasia 2

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GO Terms for Smith-Mccort Dysplasia 2

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Sources for Smith-Mccort Dysplasia 2

About this section
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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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