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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:Carpal Synostosis 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
 alt_id: OMIM:186550
For additional species annotation, visit the Alliance of Genome Resources.


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Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx1 paired-like homeodomain 1 ISO OMIM NCBI chr17:8,873,184...8,884,428
Ensembl chr17:8,878,270...8,884,423
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      bone development disease 1343
        dysostosis 344
          synostosis 229
            Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        connective tissue disease 4103
          bone disease 3534
            bone development disease 1343
              dysostosis 344
                brachydactyly 37
                  Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.