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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: MIM:615072
 alt_id: RDO:9000200


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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
ISS		 ClinVar Annotator: match by term: Brachydactyly type A1C
OMIM:615072		 OMIM
ClinVar
MouseDO		 PMID:9288098 PMID:20683927 PMID:25741868 NCBI chr 3:144,454,316...144,458,508
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 19051
    Developmental Disease 14522
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13536
        genetic disease 13199
          brachydactyly type A1C 1
Path 2
Term Annotations click to browse term
  disease 19051
    disease of anatomical entity 18384
      musculoskeletal system disease 8477
        connective tissue disease 5949
          bone disease 4401
            bone development disease 2370
              dysostosis 630
                brachydactyly 34
                  brachydactyly type A1 4
                    brachydactyly type A1C 1
paths to the root