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ONTOLOGY REPORT - ANNOTATIONS


Term:Fraser syndrome
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Accession:DOID:0090001 term browser browse the term
Definition:An autosomal recessive disease characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14. (DO)
Synonyms:exact_synonym: cryptophthalmos with other malformations;   cryptophthalmos-syndactyly syndrome
 primary_id: MESH:D058497
 alt_id: DOID:9006060;   OMIM:PS219000
 xref: GARD:6465;   ORDO:2052
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Fraser syndrome 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:11554173
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:13592920
G Frem2 FRAS1 related extracellular matrix 2 JBrowse link 2 142,747,501 142,885,604 RGD:11554173
G Grip1 glutamate receptor interacting protein 1 JBrowse link 7 64,672,723 64,854,939 RGD:13592920
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
Fraser Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frem2 FRAS1 related extracellular matrix 2 JBrowse link 2 142,747,501 142,885,604 RGD:13464328
RGD:8554872
RGD:7240710
G Frem2fpl Fras1 related extracellular matrix protein 2;fpl mutant RGD:13464328
Fraser Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grip1 glutamate receptor interacting protein 1 JBrowse link 7 64,672,723 64,854,939 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    syndrome 5159
      Fraser syndrome 5
        Fraser Syndrome 1 3
        Fraser Syndrome 2 2
        Fraser Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      Skin and Connective Tissue Diseases 4223
        connective tissue disease 2775
          bone disease 2227
            bone development disease 994
              dysostosis 303
                synostosis 202
                  syndactyly 42
                    Fraser syndrome 5
                      Fraser Syndrome 1 3
                      Fraser Syndrome 2 2
                      Fraser Syndrome 3 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.