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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 FAM58A 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
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:300707
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8818947 PMID:18297069 NCBI chr10:66,019,519...66,020,682
Ensembl chr10:66,019,520...66,020,682
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      Urogenital Diseases 4146
        Urogenital Abnormalities 259
          syndactyly-telecanthus-anogenital and renal malformations syndrome 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      Skin and Connective Tissue Diseases 5431
        connective tissue disease 4137
          bone disease 3507
            bone development disease 1307
              dysostosis 337
                synostosis 227
                  syndactyly 59
                    syndactyly-telecanthus-anogenital and renal malformations syndrome 1
paths to the root