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ONTOLOGY REPORT - ANNOTATIONS


Term:Fraser syndrome 1
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Accession:DOID:0111405 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: CRYPTOPHTHALMOS SYNDROME;   FRASRS1
 primary_id: OMIM:219000
 alt_id: DOID:9000526
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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 8 73,502,368 73,959,454 RGD:7240710
G FREM2 FRAS1 related extracellular matrix 2 JBrowse link 11 13,775,267 14,116,377 RGD:9068941
G GRIP1 glutamate receptor interacting protein 1 JBrowse link 5 30,697,018 31,175,412 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12552
    syndrome 5521
      Fraser syndrome 3
        Fraser syndrome 1 3
Path 2
Term Annotations click to browse term
  disease 12552
    disease of anatomical entity 12087
      Skin and Connective Tissue Diseases 4673
        connective tissue disease 3487
          bone disease 2993
            bone development disease 1224
              dysostosis 312
                synostosis 205
                  syndactyly 41
                    Fraser syndrome 3
                      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.