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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:Congenital, Hereditary, and Neonatal Diseases and Abnormalities
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Accession:DOID:9004324 term browser browse the term
Definition:Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES.
Synonyms:exact_synonym: Congenital Disorder;   Congenital Disorders;   Neonatal Diseases and Abnormalities
 primary_id: MESH:D009358;   RDO:0003053
 subset: RGD_JBrowse_slim
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 17150
        Developmental Disease 10920
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9451
            Congenital Abnormalities + 5579
            Fetal Diseases + 250
            Hemorrhagic Shock and Encephalopathy Syndrome 0
            Infant, Newborn, Diseases + 560
            Sandestig-Stefanova Syndrome 1
            genetic disease + 8954
    paths to the root