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RGD uses the Human Disease Ontology (DO, 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
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
Kniest dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by OMIM:156550
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kniest dysplasia
PMID:4014370 PMID:4214536 PMID:7849719 PMID:7874117 PMID:7981752 More... NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    physical disorder 3086
      orofacial cleft 129
        cleft palate 95
          Kniest dysplasia 1
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        Congenital Abnormalities 5588
          Musculoskeletal Abnormalities 2238
            Craniofacial Abnormalities 1960
              Maxillofacial Abnormalities 242
                Jaw Abnormalities 230
                  orofacial cleft 129
                    cleft palate 95
                      Kniest dysplasia 1
paths to the root