ONTOLOGY REPORT - ANNOTATIONS


Term:Fraser Syndrome 1
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Accession:DOID:9000526 term browser browse the term
Definition:Rare autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, SYNDACTYLY and UROGENITAL ABNORMALITIES. Other anomalies of bone, ear, lung, and nose are common. Mutations on FRAS1 and FREM2 are associated with the syndrome.
Synonyms:exact_synonym: FRASRS1
 primary_id: OMIM:219000
 alt_id: RDO:0004629
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Fraser Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fras1 Fraser extracellular matrix complex subunit 1 JBrowse link 14 14,438,392 14,853,016 RGD:1598960
RGD:8554872
RGD:7240710
G Frem2 FRAS1 related extracellular matrix 2 JBrowse link 2 142,747,501 142,885,604 RGD:8554872
G Grip1 glutamate receptor interacting protein 1 JBrowse link 7 64,672,723 64,854,939 RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14919
    syndrome 4713
      Fraser syndrome 5
        Fraser Syndrome 1 3
Path 2
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  disease 14919
    disease of anatomical entity 14083
      Skin and Connective Tissue Diseases 3925
        connective tissue disease 2584
          bone disease 2124
            bone development disease 894
              dysostosis 233
                synostosis 148
                  syndactyly 41
                    Fraser syndrome 5
                      Fraser Syndrome 1 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.