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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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2157843 PMID:11470490 PMID:14729836 PMID:15192806 PMID:18079109 More... NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      bone development disease 2307
        dysostosis 578
          synostosis 377
            syndactyly 148
              syndactyly type 3 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      musculoskeletal system disease 8304
        connective tissue disease 5786
          bone disease 4302
            bone development disease 2307
              dysostosis 578
                synostosis 377
                  syndactyly 148
                    syndactyly type 3 1
paths to the root