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Term:autosomal dominant Robinow syndrome 1
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Accession:DOID:0060766 term browser browse the term
Definition:A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p. (DO)
Synonyms:exact_synonym: DRS1
 primary_id: OMIM:180700
 alt_id: RDO:9003167
 xref: ORDO:3107
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autosomal dominant Robinow syndrome 1 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:13592920
G Dvl3 dishevelled segment polarity protein 3 JBrowse link 11 84,051,177 84,068,479 RGD:13592920
G Ror2 receptor tyrosine kinase-like orphan receptor 2 JBrowse link 17 11,953,552 12,134,386 RGD:8554872
G Wnt5a Wnt family member 5A JBrowse link 16 4,469,451 4,490,271 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16017
    syndrome 6141
      Robinow syndrome 8
        autosomal dominant Robinow syndrome 1 4
Path 2
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15273
      musculoskeletal system disease 5532
        connective tissue disease 4002
          bone disease 3466
            bone development disease 1259
              Dwarfism 468
                Robinow syndrome 8
                  autosomal dominant Robinow syndrome 1 4
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