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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 1
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Accession:DOID:0111816 term browser browse the term
Definition:A syndactyly characterized by complete or partial webbing between the third and fourth fingers and/or the second and third toes that has_material_basis_in heterozygous duplication of a region of chromosome 2q34-q36. (DO)
Synonyms:exact_synonym: CHROMOSOME 2q35 DUPLICATION SYNDROME;   SD1;   SDTY1;   Syndactyly, Type I;   syndactyly, type 1, with or without craniosynostosis;   zygodactyly
 narrow_synonym: craniosynostosis, Philadelphia type
 primary_id: MESH:C566096
 alt_id: OMIM:185900
 xref: GARD:5081;   ORDO:93402
For additional species annotation, visit the Alliance of Genome Resources.


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syndactyly type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ihh Indian hedgehog signaling molecule ISO DNA:duplications RGD PMID:21167467 RGD:12910956 NCBI chr 9:82,208,223...82,214,440
Ensembl chr 9:82,208,223...82,214,440
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    syndrome 7656
      chromosomal duplication syndrome 750
        syndactyly 60
          syndactyly type 1 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      musculoskeletal system disease 6245
        connective tissue disease 4357
          bone disease 3042
            bone development disease 1372
              dysostosis 380
                synostosis 228
                  syndactyly 60
                    syndactyly type 1 1
paths to the root