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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
 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 ClinVar PMID:9521327, PMID:9889005, PMID:9916837, PMID:11169558, PMID:15475955, PMID:18548531, PMID:20516114, PMID:21190457, PMID:21520333, PMID:24728327, PMID:25502805, PMID:25741868, PMID:27239782, PMID:28492532, PMID:28591191, PMID:28767289, PMID:30311386 NCBI chr 3:110,367,949...110,420,471
Ensembl chr 3:110,367,939...110,420,458
JBrowse link
G Cep57 centrosomal protein 57 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome ClinVar NCBI chr 8:12,335,430...12,355,425
Ensembl chr 8:12,335,432...12,355,091
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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:257300
OMIM
ClinVar
CTD
PMID:9521327, PMID:9916837, PMID:11169558, PMID:15475955, PMID:16411201, PMID:18548531, PMID:20516114, PMID:21190457, PMID:24728327, PMID:25741868, PMID:26822237, PMID:28492532, PMID:28767289 NCBI chr 3:110,367,949...110,420,471
Ensembl chr 3:110,367,939...110,420,458
JBrowse link
G Cep57 centrosomal protein 57 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1
CTD
ClinVar
PMID:12116237, PMID:21552266, PMID:24259107, PMID:25741868, PMID:28553959 NCBI chr 8:12,335,430...12,355,425
Ensembl chr 8:12,335,432...12,355,091
JBrowse link
G Trip13 thyroid hormone receptor interactor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553959 NCBI chr 1:31,967,980...32,012,923
Ensembl chr 1:31,967,978...32,012,919
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:12116237, PMID:21552266, PMID:24259107, PMID:25741868, PMID:28492532 NCBI chr 8:12,335,430...12,355,425
Ensembl chr 8:12,335,432...12,355,091
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 ClinVar
OMIM
PMID:28553959 NCBI chr 1:31,967,980...32,012,923
Ensembl chr 1:31,967,978...32,012,919
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      mosaic variegated aneuploidy syndrome 3
        mosaic variegated aneuploidy syndrome 1 3
        mosaic variegated aneuploidy syndrome 2 1
        mosaic variegated aneuploidy syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          chromosomal disease 1716
            mosaic variegated aneuploidy syndrome 3
              mosaic variegated aneuploidy syndrome 1 3
              mosaic variegated aneuploidy syndrome 2 1
              mosaic variegated aneuploidy syndrome 3 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.