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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:Stapes Ankylosis with Broad Thumbs and Toes
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Accession:DOID:9004791 term browser browse the term
Synonyms:exact_synonym: ANKYLOSIS OF STAPES, HYPEROPIA, BROAD THUMBS, BROAD FIRST TOES, AND SYNDACTYLY;   ANKYLOSIS OF STAPES, HYPEROPIA, BROAD THUMBS, BROAD FIRST TOES, AND SYNDACTYLY TEUNISSEN-CREMERS SYNDROME STAPES ANKYLOSIS SYNDROME WITHOUT SYMPHALANGISM;   TEUNISSEN-CREMERS SYNDROME
 primary_id: OMIM:184460
For additional species annotation, visit the Alliance of Genome Resources.


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Stapes Ankylosis with Broad Thumbs and Toes term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankfn1 ankyrin-repeat and fibronectin type III domain containing 1 ISO ClinVar Annotator: match by term: STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES ClinVar NCBI chr10:76,901,681...77,210,042
Ensembl chr10:76,903,325...76,930,631
JBrowse link
G Nog noggin ISO ClinVar Annotator: match by term: STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES ClinVar
OMIM
PMID:9851982 PMID:10069712 PMID:11160400 PMID:11857750 PMID:12089654 PMID:17668388 PMID:18440889 NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    syndrome 7656
      chromosomal duplication syndrome 750
        syndactyly 60
          Stapes Ankylosis with Broad Thumbs and Toes 2
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      Skin and Connective Tissue Diseases 5626
        connective tissue disease 4357
          bone disease 3042
            bone development disease 1372
              dysostosis 380
                synostosis 228
                  syndactyly 60
                    Stapes Ankylosis with Broad Thumbs and Toes 2
paths to the root