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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 1
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Accession:DOID:0080141 term browser browse the term
Definition:A mosaic variegated aneuploidy syndrome that is characterized by slow growth before and after birth, shorter than average height, unusually small head size, and an increased risk of developing cancer in childhood, and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1B gene on chromosome 15q15. (DO)
Synonyms:exact_synonym: MVA syndrome;   MVA1;   chromosomal mosaicism due to mitotic instability;   instability mitotic non disjunction syndrome
 primary_id: OMIM:257300
 xref: NCI:C128192
For additional species annotation, visit the Alliance of Genome Resources.



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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18246
    syndrome 9798
      mosaic variegated aneuploidy syndrome 6
        mosaic variegated aneuploidy syndrome 1 3
Path 2
Term Annotations click to browse term
  disease 18246
    Developmental Disease 13102
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11857
        genetic disease 11365
          monogenic disease 8941
            autosomal genetic disease 7989
              autosomal recessive disease 4968
                mosaic variegated aneuploidy syndrome 1 3
paths to the root