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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:brachydactyly type A1D
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Accession:DOID:0110978 term browser browse the term
Definition:A brachydactyly type A1 that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q22. (DO)
Synonyms:exact_synonym: BDA1D;   brachydactyly type A1, D
 primary_id: OMIM:616849
 alt_id: RDO:9000376
For additional species annotation, visit the Alliance of Genome Resources.



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brachydactyly type A1D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr1b bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: Brachydactyly, type a1, d ClinVar
OMIM
PMID:25758993 NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9494
        genetic disease 8999
          brachydactyly type A1D 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      musculoskeletal system disease 6446
        connective tissue disease 4432
          bone disease 3115
            bone development disease 1424
              dysostosis 394
                brachydactyly 31
                  brachydactyly type A1 4
                    brachydactyly type A1D 1
paths to the root