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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:DEGCAGS SYNDROME
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Accession:DOID:9005153 term browser browse the term
Definition:This disease is an autosomal recessive, syndromic, neurodevelopmental disorder characterized by global developmental delay, coarse and dysmorphic facial features, and poor growth and feeding apparent from infancy.
Synonyms:exact_synonym: DEGCAGS;   DEVELOPMENTAL DELAY WITH GASTROINTESTINAL, CARDIOVASCULAR, GENITOURINARY, AND SKELETAL ABNORMALITIES
 primary_id: OMIM:619488


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Neurodevelopmental Disorders 6831
        DEGCAGS SYNDROME 0
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal recessive disease 6583
                DEGCAGS SYNDROME 0
paths to the root