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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: MIM:616849
 alt_id: RDO:9000376

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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 A1D OMIM
ClinVar		 PMID:25758993 NCBI chrNW_004624757:22,697,639...23,142,209
Ensembl chrNW_004624757:22,955,666...23,142,499 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14093
    Developmental Disease 12279
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11508
        genetic disease 11197
          brachydactyly type A1D 1
Path 2
Term Annotations click to browse term
  disease 14093
    disease of anatomical entity 13772
      musculoskeletal system disease 7244
        connective tissue disease 4918
          bone disease 3623
            bone development disease 2145
              dysostosis 534
                brachydactyly 33
                  brachydactyly type A1 4
                    brachydactyly type A1D 1
paths to the root