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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 with Coagulation Factor Deficiency
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Accession:DOID:9002967 term browser browse the term
Synonyms:primary_id: MESH:C564742;   RDO:0013603
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 16091
    syndrome 7036
      chondrodysplasia punctata 7
        Chondrodysplasia Punctata with Coagulation Factor Deficiency 0
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      Skin and Connective Tissue Diseases 5431
        connective tissue disease 4137
          bone disease 3507
            bone development disease 1307
              osteochondrodysplasia 441
                chondrodysplasia punctata 7
                  Chondrodysplasia Punctata with Coagulation Factor Deficiency 0
paths to the root