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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:Chondrodysplasia Punctata, Tibia-Metacarpal Type
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Accession:DOID:9004006 term browser browse the term
Synonyms:exact_synonym: chondrodysplasia punctata, MT type
 primary_id: MESH:C562961
 alt_id: OMIM:118651;   RDO:0012451


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    syndrome 10839
      chondrodysplasia punctata 9
        autosomal dominant chondrodysplasia punctata 0
          Chondrodysplasia Punctata, Tibia-Metacarpal Type 0
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      musculoskeletal system disease 8277
        connective tissue disease 5762
          bone disease 4273
            bone development disease 2304
              osteochondrodysplasia 860
                chondrodysplasia punctata 9
                  autosomal dominant chondrodysplasia punctata 0
                    Chondrodysplasia Punctata, Tibia-Metacarpal Type 0
paths to the root