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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-telecanthus-anogenital and renal malformations syndrome
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Accession:DOID:0111931 term browser browse the term
Definition:A syndrome characterized by toe syndactyly, telecanthus and anogenital and renal malformations that has_material_basis_in heterozygous mutation in the FAM58A gene on chromosome Xq28. (DO)
Synonyms:exact_synonym: STAR;   STAR Syndrome;   Syndactyly with Renal and Anogenital Malformations;   toe syndactyly, telecanthus, and anogenital and renal malformations
 primary_id: MESH:C567475
 alt_id: OMIM:300707
 xref: GARD:10295;   ORDO:140952


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syndactyly-telecanthus-anogenital and renal malformations syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnq cyclin Q ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Syndactyly-telecanthus-anogenital and renal malformations syndrome		 OMIM
CTD
ClinVar		 PMID:8818947 PMID:18297069 PMID:25741868 NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21118
    syndrome 10725
      syndactyly-telecanthus-anogenital and renal malformations syndrome 1
Path 2
Term Annotations click to browse term
  disease 21118
    disease of anatomical entity 18162
      Skin and Connective Tissue Diseases 7360
        connective tissue disease 5710
          bone disease 4223
            bone development disease 2258
              dysostosis 571
                synostosis 371
                  syndactyly 146
                    syndactyly-telecanthus-anogenital and renal malformations syndrome 1
paths to the root