ONTOLOGY REPORT - ANNOTATIONS


Term:THAUVIN-ROBINET-FAIVRE SYNDROME
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Accession:DOID:9007012 term browser browse the term
Definition:An autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. (OMIM)
Synonyms:exact_synonym: TROFAS
 primary_id: OMIM:617107;   RDO:9001588
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THAUVIN-ROBINET-FAIVRE SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fibp FGF1 intracellular binding protein JBrowse link 1 220,840,078 220,844,412 RGD:8554872
RGD:7240710

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Path 1
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  disease 14875
    syndrome 4220
      THAUVIN-ROBINET-FAIVRE SYNDROME 1
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            thalamic disease 196
              hypothalamic disease 196
                pituitary gland disease 157
                  hyperpituitarism 35
                    Gigantism 12
                      THAUVIN-ROBINET-FAIVRE SYNDROME 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.