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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 A1C
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Accession:DOID:0110977 term browser browse the term
Definition:A brachydactyly type A1 has_material_basis_in homozygous or heterozygous mutation in the GDF5 gene on chromosome 20q11. (DO)
Synonyms:exact_synonym: BDA1C;   BRACHYDACTYLY, TYPE A1, C
 primary_id: OMIM:615072
 alt_id: RDO:9000200
For additional species annotation, visit the Alliance of Genome Resources.


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brachydactyly type A1C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Brachydactyly, type a1, c OMIM
ClinVar
PMID:20683927 NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          brachydactyly type A1C 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      musculoskeletal system disease 5715
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1329
              dysostosis 342
                brachydactyly 37
                  brachydactyly type A1 4
                    brachydactyly type A1C 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.