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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 3
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Accession:DOID:0080689 term browser browse the term
Definition:A mosaic variegated aneuploidy syndrome that has_material_basis_in homozygous mutation in the TRIP13 gene on chromosome 5p15 that results in no detectable TRIP13 protein. (DO)
Synonyms:exact_synonym: MVA3
 primary_id: OMIM:617598
For additional species annotation, visit the Alliance of Genome Resources.



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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:25741868 PMID:28553959 NCBI chr 1:29,357,093...29,402,078
Ensembl chr 1:29,357,130...29,402,074
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      mosaic variegated aneuploidy syndrome 3
        mosaic variegated aneuploidy syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal recessive disease 3496
                mosaic variegated aneuploidy syndrome 3 1
paths to the root