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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 12p Partial Deletion
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Accession:DOID:9000381 term browser browse the term
Synonyms:exact_synonym: 12p monosomy, partial;   Deletion 12p12 p11;   Deletion 12p13;   Monosomy 12p11;   Monosomy 12p13
 primary_id: MESH:C538302;   RDO:0004264


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          chromosomal disease 2729
            Chromosome Deletion 1555
              Chromosome 12p Partial Deletion 0
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13332
      Pathologic Processes 7983
        Chromosome Aberrations 2537
          Aneuploidy 1831
            Monosomy 1555
              Chromosome Deletion 1555
                Chromosome 12p Partial Deletion 0
paths to the root