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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:mosaic variegated aneuploidy syndrome
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Accession:DOID:0080688 term browser browse the term
Definition:A syndrome that is characterized by cell mosaicism where at least one-quarter of cells have an abnormal number of chromosomes. (DO)
Synonyms:exact_synonym: mosaic variegated aneuploidy syndromes
 primary_id: MESH:C536987
 xref: GARD:3007;   OMIM:PS257300;   ORDO:1052
For additional species annotation, visit the Alliance of Genome Resources.


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mosaic variegated aneuploidy syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:15475955 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 3:105,563,089...105,615,547
Ensembl chr 3:105,563,138...105,615,547 		JBrowse link
G Cep57 centrosomal protein 57 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:21552266 PMID:28553959 NCBI chr 8:10,669,588...10,689,257
Ensembl chr 8:10,669,590...10,689,249 		JBrowse link
G Trip13 thyroid hormone receptor interactor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553959 NCBI chr 1:29,357,093...29,402,078
Ensembl chr 1:29,357,130...29,402,074 		JBrowse link
mosaic variegated aneuploidy syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 OMIM
ClinVar		 PMID:9521327 PMID:9536098 PMID:9889005 PMID:9916837 PMID:11169558 More... NCBI chr 3:105,563,089...105,615,547
Ensembl chr 3:105,563,138...105,615,547 		JBrowse link
G Cep57 centrosomal protein 57 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:12116237 PMID:21552266 PMID:24259107 PMID:25741868 PMID:28492532 NCBI chr 8:10,669,588...10,689,257
Ensembl chr 8:10,669,590...10,689,249 		JBrowse link
G Pak6 p21 (RAC1) activated kinase 6 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:105,638,248...105,674,399
Ensembl chr 3:105,638,653...105,672,975 		JBrowse link
mosaic variegated aneuploidy syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep57 centrosomal protein 57 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 2 OMIM
ClinVar		 PMID:9536098 PMID:12116237 PMID:17576681 PMID:21552266 PMID:24259107 More... NCBI chr 8:10,669,588...10,689,257
Ensembl chr 8:10,669,590...10,689,249 		JBrowse link
G Mtmr2 myotubularin related protein 2 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 2 ClinVar PMID:28492532 NCBI chr 8:10,617,993...10,670,724
Ensembl chr 8:10,617,993...10,668,172 		JBrowse link
mosaic variegated aneuploidy syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trip13 thyroid hormone receptor interactor 13 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 3 OMIM
ClinVar		 PMID:25741868 PMID:28553959 PMID:32473092 NCBI chr 1:29,357,093...29,402,078
Ensembl chr 1:29,357,130...29,402,074 		JBrowse link
Mosaic Variegated Aneuploidy Syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenatac centrosomal AT-AC splicing factor ISO OMIM NCBI chr 8:44,735,968...44,742,859
Ensembl chr 8:44,735,972...44,742,837 		JBrowse link
Mosaic Variegated Aneuploidy Syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slf2 SMC5-SMC6 complex localization factor 2 ISO OMIM NCBI chr 1:243,782,781...243,845,409
Ensembl chr 1:243,782,246...243,845,250 		JBrowse link
Mosaic Variegated Aneuploidy Syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smc5 structural maintenance of chromosomes 5 ISO OMIM NCBI chr 1:220,769,366...220,839,138
Ensembl chr 1:220,769,366...220,839,096 		JBrowse link
Mosaic Variegated Aneuploidy Syndrome 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mad1l1 mitotic arrest deficient 1 like 1 ISO OMIM NCBI chr12:14,320,892...14,630,750
Ensembl chr12:14,320,892...14,630,703 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    syndrome 9802
      mosaic variegated aneuploidy syndrome 9
        Mosaic Variegated Aneuploidy Syndrome 4 1
        Mosaic Variegated Aneuploidy Syndrome 5 1
        Mosaic Variegated Aneuploidy Syndrome 6 1
        Mosaic Variegated Aneuploidy Syndrome 7 1
        mosaic variegated aneuploidy syndrome 1 3
        mosaic variegated aneuploidy syndrome 2 2
        mosaic variegated aneuploidy syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 18256
    Developmental Disease 13110
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11866
        genetic disease 11373
          chromosomal disease 2397
            mosaic variegated aneuploidy syndrome 9
              Mosaic Variegated Aneuploidy Syndrome 4 1
              Mosaic Variegated Aneuploidy Syndrome 5 1
              Mosaic Variegated Aneuploidy Syndrome 6 1
              Mosaic Variegated Aneuploidy Syndrome 7 1
              mosaic variegated aneuploidy syndrome 1 3
              mosaic variegated aneuploidy syndrome 2 2
              mosaic variegated aneuploidy syndrome 3 1
paths to the root