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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:Patau syndrome
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Accession:DOID:11665 term browser browse the term
Synonyms:exact_synonym: Bartholin-Patau syndrome;   Chromosome 13 duplication;   Chromosome 13 trisomy syndrome;   Complete Trisomy 13 Syndrome;   D1 Trisomy;   Patau's Syndrome;   Trisomy 13;   Trisomy 13 Syndrome
 primary_id: MESH:C536305;   RDO:0001832
 xref: ICD10CM:Q91.7;   ICD9CM:758.1;   NCI:C101223;   NCI:C36529
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 16023
    syndrome 7003
      Patau syndrome 0
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          chromosomal disease 1723
            chromosomal duplication syndrome 741
              Trisomy 105
                Patau syndrome 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.