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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 2
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Accession:DOID:0080142 term browser browse the term
Definition:A mosaic variegated aneuploidy syndrome that is characterized by slowly before and after birth and typically normal head size and that has_material_basis_in homozygous or compound heterozygous mutation in the CEP57 gene on chromosome 11q21. (DO)
Synonyms:exact_synonym: MVA2
 primary_id: OMIM:614114
 xref: NCI:C168989
For additional species annotation, visit the Alliance of Genome Resources.


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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
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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 2 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
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                mosaic variegated aneuploidy syndrome 2 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.