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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:Pallister Killian Syndrome
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Accession:DOID:9007675 term browser browse the term
Definition:Pallister-Killian syndrome is a dysmorphic condition involving most organ systems, but also characterized by a tissue-limited mosaicism; most fibroblasts have 47 chromosomes with an extra small metacentric chromosome, whereas the karyotype of lymphocytes is normal. The extra metacentric chromosome is an isochromosome for part of the short arm of chromosome 12: i(12)(p10). (OMIM)
Synonyms:exact_synonym: Isochromosome 12p syndrome;   PKS;   Pallister-Killian Mosaic Syndrome;   Pallister-Killian Syndrome;   Teschler-Nicola-Killian Syndrome;   hexasomy 12p, mosaic;   tetrasomy 12p, mosaic
 primary_id: MESH:C538105
 alt_id: OMIM:601803
 xref: NCI:C75458



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Path 1
Term Annotations click to browse term
  disease 18970
    syndrome 10900
      Pallister Killian Syndrome 0
Path 2
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  disease 18970
    Developmental Disease 14384
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13389
        genetic disease 13005
          chromosomal disease 2732
            Pallister Killian Syndrome 0
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