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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:Chromosome 8, Trisomy
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Accession:DOID:9003273 term browser browse the term
Synonyms:exact_synonym: Chromosome 8 duplication;   Trisomy 8
 primary_id: MESH:C537942;   RDO:0003864
 xref: NCI:C36396


show annotations for term's descendants           Sort by:
Chromosome 8, Trisomy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO associated with Myeloproliferative Disorders;DNA:missense mutation:cds:609C>T (human) RGD PMID:23643325 RGD:10769356 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557 		JBrowse link
G Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 ISO RGD PMID:28220884 RGD:151347177 NCBI chr  X:30,547,424...30,571,613
Ensembl chr  X:30,547,536...30,570,125 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      chromosomal duplication syndrome 1105
        Trisomy 370
          Chromosome 8, Trisomy 2
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          chromosomal disease 2728
            chromosomal duplication syndrome 1105
              Trisomy 370
                Chromosome 8, Trisomy 2
paths to the root