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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:Kantaputra Gorlin Syndrome
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Accession:DOID:9004981 term browser browse the term
Synonyms:exact_synonym: MDK;   MMDK;   Mesomelic dysplasia with ankle, carpal, and tarsal synostosis;   Mesomelic dysplasia, Kantaputra type;   Mesomelic dysplasia, Thai type
 primary_id: MESH:C535547
 alt_id: OMIM:156232


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    syndrome 10887
      Kantaputra Gorlin Syndrome 0
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      Skin and Connective Tissue Diseases 7520
        connective tissue disease 5786
          bone disease 4302
            bone development disease 2307
              Kantaputra Gorlin Syndrome 0
paths to the root