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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 GJA1 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
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:186100
ClinVar Annotator: match by term: Syndactyly type 3
OMIM
ClinVar
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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      chromosomal duplication syndrome 756
        syndactyly 61
          syndactyly type 3 1
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      musculoskeletal system disease 6418
        connective tissue disease 4422
          bone disease 3108
            bone development disease 1414
              dysostosis 392
                synostosis 239
                  syndactyly 61
                    syndactyly type 3 1
paths to the root