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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:Poland syndrome
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Accession:DOID:12961 term browser browse the term
Definition:A physical disorder that is characterized by missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand. (DO)
Synonyms:exact_synonym: Poland anomaly;   Poland sequence;   Poland syndactyly;   Poland's syndactyly
 primary_id: MESH:D011045
 alt_id: OMIM:173800
 xref: GARD:7412;   ICD10CM:Q79.8;   NCI:C85017
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 18969
    physical disorder 4965
      Poland syndrome 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        connective tissue disease 5786
          bone disease 4302
            bone development disease 2307
              dysostosis 578
                synostosis 377
                  syndactyly 148
                    Poland syndrome 0
paths to the root