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ONTOLOGY REPORT - ANNOTATIONS


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;   RDO:0002996
 xref: GARD:6841
For additional species annotation, visit the Alliance of Genome Resources.


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Kniest dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      endocrine system disease 4799
        Dwarfism 308
          Kniest dysplasia 1
Path 2
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        Congenital Abnormalities 3598
          Musculoskeletal Abnormalities 1302
            Craniofacial Abnormalities 1046
              Maxillofacial Abnormalities 207
                Jaw Abnormalities 204
                  orofacial cleft 114
                    cleft palate 92
                      Kniest dysplasia 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.