ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant Robinow syndrome 2
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Accession:DOID:0060765 term browser browse the term
Definition:A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the DVL1 gene on chromosome 1p36. (DO)
Synonyms:exact_synonym: DRS2
 primary_id: OMIM:616331
 alt_id: RDO:9001541
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autosomal dominant Robinow syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dvl1 dishevelled segment polarity protein 1 JBrowse link 5 173,295,948 173,308,014 RGD:8554872
RGD:7240710
G Dvl3 dishevelled segment polarity protein 3 JBrowse link 11 84,051,177 84,068,479 RGD:8554872
G Fzd2 frizzled class receptor 2 JBrowse link 10 90,550,147 90,552,057 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    syndrome 4218
      Robinow syndrome 7
        autosomal dominant Robinow syndrome 2 3
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      musculoskeletal system disease 3984
        connective tissue disease 2572
          bone disease 2118
            bone development disease 891
              Dwarfism 300
                Robinow syndrome 7
                  autosomal dominant Robinow syndrome 2 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.