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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 A2
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Accession:DOID:0110965 term browser browse the term
Definition:A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12. (DO)
Synonyms:exact_synonym: BDA2;   Mohr-Wriedt type brachydactyly;   brachymesophalangy 2;   brachymesophalangy II
 primary_id: MESH:C537089
 alt_id: OMIM:112600
 xref: GARD:979;   ORDO:93396


show annotations for term's descendants           Sort by:
brachydactyly type A2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Brachydactyly type A2 OMIM
ClinVar		 PMID:19327734 PMID:21357617 PMID:25741868 PMID:28492532 NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397 		JBrowse link
G Bmpr1b bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: Brachydactyly type A2 OMIM
ClinVar		 PMID:9536098 PMID:14523231 PMID:16957682 PMID:17576681 PMID:22374147 More... NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368 		JBrowse link
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Brachydactyly type A2 OMIM
ClinVar		 PMID:8589725 PMID:9288091 PMID:12121354 PMID:12357473 PMID:16014698 More... NCBI chr 3:144,454,306...144,458,757
Ensembl chr 3:144,454,338...144,458,612 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    Developmental Disease 18391
      bone development disease 2299
        dysostosis 570
          brachydactyly 37
            brachydactyly type A2 3
              Brachydactyly, Type A2, With Microcephaly 0
Path 2
Term Annotations click to browse term
  disease 21089
    disease of anatomical entity 18156
      musculoskeletal system disease 8196
        connective tissue disease 5725
          bone disease 4227
            bone development disease 2299
              dysostosis 570
                brachydactyly 37
                  brachydactyly type A2 3
                    Brachydactyly, Type A2, With Microcephaly 0
paths to the root