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ONTOLOGY REPORT - ANNOTATIONS


Term:Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly
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Accession:DOID:9004044 term browser browse the term
Definition:Liebenberg syndrome is an upper limb malformation characterized by the combination of dysplastic elbow joints and the fusion of wrist bones with consequent radial deviation. LBNBG, or carpal synostosis with dysplastic elbow joints and brachydactyly, is caused by genomic rearrangement resulting in misexpression of the PITX1 gene on chromosome 5q31. (OMIM)
Synonyms:exact_synonym: Brachydactyly with Joint Dysplasia;   LBNBG;   Liebenberg Syndrome
 primary_id: MESH:C566090;   RDO:0014551
 alt_id: OMIM:186550
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Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pitx1 paired-like homeodomain 1 JBrowse link 17 8,873,184 8,884,428 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7782
      bone development disease 896
        dysostosis 233
          synostosis 148
            Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14096
      musculoskeletal system disease 4002
        connective tissue disease 2587
          bone disease 2126
            bone development disease 896
              dysostosis 233
                brachydactyly 29
                  Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.