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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;   Brachymesophalangy 2;   Brachymesophalangy Ii;   Mohr-Wriedt type brachydactyly
 primary_id: MESH:C537089
 alt_id: OMIM:112600;   RDO:0002863
 xref: GARD:979;   ORDO:93396
For additional species annotation, visit the Alliance of Genome Resources.


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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
ClinVar Annotator: match by null
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 OMIM:112600
ClinVar Annotator: match by term: Brachydactyly type A2
OMIM
ClinVar
PMID:14523231 PMID:16957682 PMID:25741868 PMID:28492532 PMID:31727138 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 OMIM:112600 OMIM
ClinVar
PMID:12121354 PMID:16014698 PMID:16127465 PMID:18203755 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 17205
    Developmental Disease 10918
      bone development disease 1414
        dysostosis 392
          brachydactyly 31
            brachydactyly type A2 3
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      musculoskeletal system disease 6416
        connective tissue disease 4420
          bone disease 3106
            bone development disease 1414
              dysostosis 392
                brachydactyly 31
                  brachydactyly type A2 3
paths to the root