Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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: Instability mitotic non disjunction syndrome;   MVA syndrome;   MVA1;   chromosomal mosaicism due to mitotic instability
 primary_id: MESH:C536987
 alt_id: OMIM:257300
 xref: NCI:C128192
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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
ClinVar Annotator: match by OMIM:257300
CTD Direct Evidence: marker/mechanism
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      mosaic variegated aneuploidy syndrome 3
        mosaic variegated aneuploidy syndrome 1 3
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal recessive disease 2628
                mosaic variegated aneuploidy syndrome 1 3
paths to the root