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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:Ectrodactyly Cardiopathy Dysmorphism
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Accession:DOID:9008318 term browser browse the term
Synonyms:exact_synonym: Ectrodactyly of lower limbs, congenital heart defect and characteristic facies;   Van Den Ende Brunner syndrome
 primary_id: MESH:C536187



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16234
    physical disorder 5232
      congenital heart disease 1409
        Ectrodactyly Cardiopathy Dysmorphism 0
Path 2
Term Annotations click to browse term
  disease 16234
    Developmental Disease 14023
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13040
        Congenital Abnormalities 7818
          Musculoskeletal Abnormalities 3488
            Congenital Limb Deformities 1070
              Lower Extremity Deformities, Congenital 201
                Ectrodactyly Cardiopathy Dysmorphism 0
paths to the root