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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


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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:9536098 PMID:12116237 PMID:16199547 PMID:17576681 PMID:21552266 More... NCBI chr 9:27,812,944...27,858,293
Ensembl chr 9:27,812,917...27,859,568 		JBrowse link
G MTMR2 myotubularin related protein 2 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 2 ClinVar PMID:28492532 NCBI chr 9:27,864,335...27,974,448
Ensembl chr 9:27,854,491...27,974,423 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    syndrome 9894
      mosaic variegated aneuploidy syndrome 9
        mosaic variegated aneuploidy syndrome 2 2
Path 2
Term Annotations click to browse term
  disease 17415
    Developmental Disease 17263
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17177
        genetic disease 17158
          monogenic disease 9978
            autosomal genetic disease 9202
              autosomal recessive disease 6384
                mosaic variegated aneuploidy syndrome 2 2
paths to the root