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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: MIM:264480
 xref: NCI:C125418


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    physical disorder 5180
      polydactyly 380
        Pseudotrisomy 13 Syndrome 0
Path 2
Term Annotations click to browse term
  disease 19102
    Developmental Disease 14601
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        genetic disease 13275
          inherited metabolic disorder 6605
            carbohydrate metabolic disorder 3410
              glucose metabolism disease 2157
                diabetes mellitus 1663
                  Diabetes Complications 541
                    Fetal Macrosomia 58
                      Pseudotrisomy 13 Syndrome 0
paths to the root