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Tukel syndrome - Ontology Report - Rat Genome Database

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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:Tukel syndrome
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Accession:DOID:0081021 term browser browse the term
Definition:A congenital fibrosis of the extraocular muscles that is characterized by nonprogressive restrictive ophthalmoplegia with blepharoptosis of the right eye and postaxial oligodactyly/oligosyndactyly of the hands, with the right more severely affected than the left. (DO)
Synonyms:exact_synonym: CFEOM-U;   CFEOM4;   congenital extraocular muscle fibrosis with ulnar hand anomalies;   congenital fibrosis of extraocular muscles 4;   congenital fibrosis of extraocular muscles with ulnar hand anomalies;   congenital fibrosis of the extraocular muscles 4
 primary_id: MESH:C536925
 alt_id: DOID:9003903;   MIM:609428
 xref: GARD:9814

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Path 1
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  disease 288179
    syndrome 133013
      Tukel syndrome 0
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        peripheral nervous system disease 45985
          neuropathy 43737
            cranial nerve disease 8374
              ocular motility disease 2626
                ophthalmoplegia 843
                  congenital fibrosis of the extraocular muscles 147
                    Tukel syndrome 0
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