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;   RDO:0002996
 alt_id: OMIM:156550
 xref: GARD:6841
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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      endocrine system disease 4707
        Dwarfism 302
          Kniest dysplasia 1
Path 2
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        Congenital Abnormalities 3200
          Musculoskeletal Abnormalities 1197
            Craniofacial Abnormalities 953
              Maxillofacial Abnormalities 202
                Jaw Abnormalities 199
                  orofacial cleft 110
                    cleft palate 90
                      Kniest dysplasia 1
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