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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant Robinow syndrome 3
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Accession:DOID:0060767 term browser browse the term
Definition:A syndrome including mesomelia, normal intellect, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge, which are collectively referred to as a 'fetal face'. (OMIM)
Synonyms:exact_synonym: DRS3
 primary_id: OMIM:616894
 alt_id: RDO:9000363
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autosomal dominant Robinow syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dvl3 dishevelled segment polarity protein 3 JBrowse link 11 84,051,177 84,068,479 RGD:8554872
RGD:13592920
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 14025
    syndrome 4467
      autosomal dominant Robinow syndrome 3 2
Path 2
Term Annotations click to browse term
  disease 14025
    disease of anatomical entity 13238
      musculoskeletal system disease 3448
        connective tissue disease 2354
          bone disease 1913
            bone development disease 699
              Dwarfism 166
                Robinow syndrome 7
                  autosomal dominant Robinow syndrome 3 2
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