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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 ClinVar Annotator: match by term: Liebenberg syndrome OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr17:8,794,134...8,800,292
Ensembl chr17:8,794,134...8,800,291
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18162
    Developmental Disease 12942
      bone development disease 1873
        dysostosis 439
          synostosis 287
            Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly 1
Path 2
Term Annotations click to browse term
  disease 18162
    disease of anatomical entity 17537
      musculoskeletal system disease 7230
        connective tissue disease 5013
          bone disease 3683
            bone development disease 1873
              dysostosis 439
                brachydactyly 33
                  Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly 1
paths to the root