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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



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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 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 21128
    Developmental Disease 18448
      bone development disease 2303
        dysostosis 576
          synostosis 375
            Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      musculoskeletal system disease 8271
        connective tissue disease 5757
          bone disease 4270
            bone development disease 2303
              dysostosis 576
                brachydactyly 33
                  Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly 1
paths to the root