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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:Chromosomal Instability with Tissue-Specific Radiosensitivity
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Accession:DOID:9003627 term browser browse the term
Synonyms:primary_id: MESH:C565848
 alt_id: MIM:215510
 xref: MONDO:0008983


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Chromosomal Instability with Tissue-Specific Radiosensitivity term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gmppa GDP-mannose pyrophosphorylase A ISO ClinVar Annotator: match by term: Chromosomal instability with tissue-specific radiosensitivity ClinVar PMID:24035193 NCBI chr 9:76,926,724...76,934,274
Ensembl chr 9:76,926,739...76,934,269 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of cellular proliferation 7892
      Chromosomal Instability with Tissue-Specific Radiosensitivity 1
Path 2
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14674
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10963
            autosomal genetic disease 10452
              autosomal dominant disease 6794
                complex cortical dysplasia with other brain malformations 1647
                  Malformations of Cortical Development, Group I 1402
                    microcephaly 1150
                      Chromosomal Instability with Tissue-Specific Radiosensitivity 1
paths to the root