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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:syndactyly type 3
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Accession:DOID:0111817 term browser browse the term
Definition:A syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers that has_material_basis_in heterozygous mutation in the GJA1 gene on chromosome 6q22.31. (DO)
Synonyms:exact_synonym: Ring and little finger syndactyly;   SDTY3;   Syndactyly of fingers four and five;   familial syndactyly type 3;   ringand little finger syndactyly;   syndactyly of fingers 4 and 5;   syndactyly of fingers IV and V;   syndactyly of the ring and little finger;   syndactyly type III
 primary_id: MESH:C538154
 alt_id: OMIM:186100
 xref: GARD:5088;   ORDO:93404


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syndactyly type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Syndactyly type 3 OMIM
ClinVar		 PMID:2157843 PMID:11470490 PMID:14729836 PMID:15192806 PMID:18079109 More... NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,528...41,002,156 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    Developmental Disease 17260
      bone development disease 2249
        dysostosis 561
          synostosis 363
            syndactyly 141
              syndactyly type 3 1
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      musculoskeletal system disease 7668
        connective tissue disease 5225
          bone disease 3783
            bone development disease 2249
              dysostosis 561
                synostosis 363
                  syndactyly 141
                    syndactyly type 3 1
paths to the root