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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 B1
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Accession:DOID:0110969 term browser browse the term
Definition:A brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has_material_basis_in heterozygous mutation in the ROR2 gene on chromosome 9q22. (DO)
Synonyms:exact_synonym: BDB;   BDB1;   brachydactyly, type B
 broad_synonym: ROR2-RELATED CONDITION
 primary_id: MESH:C566196
 alt_id: MIM:113000


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brachydactyly type B1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO DNA:mutation:c.2273C>A; p.S758X (human)
DNA:deletion mutation:exon:c.2243delC,p.W749fsX24(human)
DNA:missense mutation:cds:c.2265C>A,p.Y755X(human)
DNA:deletion:exon:c.1396-1398delAA, (human)
DNA:nonsense mutation:cds:c.2278C>T, p.Q760X (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brachydactyly type B1 		OMIM
CTD
ClinVar
RGD		 PMID:641944 PMID:9536098 PMID:10700182 PMID:10932186 PMID:10932187 More... RGD:11535949, RGD:11535951, RGD:11535952, RGD:11535953, RGD:11537345 NCBI chr17:12,124,749...12,300,044
Ensembl chr17:12,124,749...12,300,044 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          brachydactyly type B1 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      musculoskeletal system disease 8492
        connective tissue disease 5948
          bone disease 4398
            bone development disease 2345
              dysostosis 634
                brachydactyly 33
                  brachydactyly type B1 1
paths to the root