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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:Kniest dysplasia
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Accession:DOID:0080045 term browser browse the term
Definition:An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. (DO)
Synonyms:exact_synonym: Kniest Chondrodystrophy;   Kniest Syndrome;   Swiss Cheese Cartilage Dysplasia
 primary_id: MESH:C537207
 alt_id: OMIM:156550
 xref: GARD:6841;   NCI:C125594


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    physical disorder 4958
      orofacial cleft 142
        cleft palate 111
          Kniest dysplasia 1
Path 2
Term Annotations click to browse term
  disease 21089
    Developmental Disease 18391
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18246
        Congenital Abnormalities 7506
          Musculoskeletal Abnormalities 3217
            Craniofacial Abnormalities 2567
              Maxillofacial Abnormalities 296
                Jaw Abnormalities 250
                  orofacial cleft 142
                    cleft palate 111
                      Kniest dysplasia 1
paths to the root