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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:autosomal dominant chondrodysplasia punctata
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Accession:DOID:0060293 term browser browse the term
Definition:A chondrodysplasia punctata that is characterized by abnormal facies and stippling of the limbs, associated with vitamin K-related teratogenicity, has_material_basis_in autosomal dominant inheritance. (DO)
Synonyms:exact_synonym: chondrodysplasia punctata due to vitamin K deficiency;   chondrodysplasia punctata due to warfarin teratogenicity
 primary_id: MESH:C563248
 alt_id: OMIM:118650;   RDO:0012576
 xref: ORDO:79344
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
        autosomal dominant chondrodysplasia punctata 0
          Chondrodysplasia Punctata, Tibia-Metacarpal Type 0
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      musculoskeletal system disease 5740
        connective tissue disease 4137
          bone disease 3507
            bone development disease 1307
              osteochondrodysplasia 441
                chondrodysplasia punctata 7
                  autosomal dominant chondrodysplasia punctata 0
                    Chondrodysplasia Punctata, Tibia-Metacarpal Type 0
paths to the root