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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:Pseudotrisomy 13 Syndrome
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Accession:DOID:9004419 term browser browse the term
Synonyms:exact_synonym: Pseudo trisomy 13 syndrome;   holoprosencephaly-polydactyly syndrome
 primary_id: MESH:C535829
 alt_id: OMIM:264480
 xref: NCI:C125418



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      polydactyly 367
        Pseudotrisomy 13 Syndrome 0
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          inherited metabolic disorder 6256
            carbohydrate metabolic disorder 3309
              glucose metabolism disease 2114
                diabetes mellitus 1662
                  Diabetes Complications 540
                    Fetal Macrosomia 58
                      Pseudotrisomy 13 Syndrome 0
paths to the root