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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 Aberrations
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Accession:DOID:9004814 term browser browse the term
Definition:Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
Synonyms:exact_synonym: Autosome Abnormalities;   Autosome Abnormality;   Chromosomal Aberration;   Chromosomal Aberrations;   Chromosomal Abnormalities;   Chromosomal Abnormality;   Chromosome Aberration;   Chromosome Abnormalities;   Chromosome Abnormality;   Cytogenetic Aberration;   Cytogenetic Aberrations;   Cytogenetic Abnormalities;   Cytogenetic Abnormality
 primary_id: MESH:D002869
 xref: EFO:0000336
For additional species annotation, visit the Alliance of Genome Resources.



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  • Term paths to the root
    Path 1
    Term Annotations click to browse term
      disease 18256
        Pathological Conditions, Signs and Symptoms 12646
          Pathologic Processes 7842
            Chromosome Aberrations 2350
              Abnormal Karyotype + 0
              Aneuploidy + 1589
              Chromosomal Instability + 8
              Chromosome Breakage + 20
              Chromosome Inversion 0
              Chromothripsis 0
              Edinburgh Malformation Syndrome 0
              Genetic Nondisjunction + 36
              Genetic Translocation + 3
              Isochromosomes 0
              Micronuclei, Chromosome-Defective 27
              Polyploidy + 4
              Premature Chromatid Separation Trait 1
              Ring Chromosomes + 0
              Sex Chromosome Aberrations + 6
              chromosomal duplication syndrome + 1171
              immunodeficiency-centromeric instability-facial anomalies syndrome + 10
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