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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 1, with or without craniosynostosis;   syndactyly type I;   zygodactyly
 narrow_synonym: craniosynostosis, Philadelphia type
 primary_id: MESH:C566096
 alt_id: OMIM:185900
 xref: GARD:5081;   ORDO:93402


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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 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532 		JBrowse link
G Nhej1 nonhomologous end-joining factor 1 ISO ClinVar Annotator: match by term: Syndactyly type 1 ClinVar NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      chromosomal duplication syndrome 1105
        syndactyly type 1 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      musculoskeletal system disease 8272
        connective tissue disease 5757
          bone disease 4270
            bone development disease 2304
              dysostosis 577
                synostosis 376
                  syndactyly 147
                    syndactyly type 1 2
paths to the root