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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive Robinow syndrome
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Accession:DOID:0060764 term browser browse the term
Definition:A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22. (DO)
Synonyms:exact_synonym: COSTOVERTEBRAL SEGMENTATION DEFECT WITH MESOMELIA;   RRS;   costovertebral segmentation defect-mesomelia syndrome
 narrow_synonym: BRACHYDACTYLY, TYPE B1, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE;   Covesdem Syndrome;   autosomal recessive Robinow syndrome, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals;   autosomal recessive Robinow syndrome, with autosomal dominant brachydactyly type B1;   autosomal recessive Robinow syndrome, with brachy-syn-polydactyly
 broad_synonym: ROR2-RELATED DISORDER
 primary_id: MESH:C535863
 alt_id: OMIM:268310;   RDO:0001204
 xref: ORDO:1507
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autosomal recessive Robinow syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prickle1 prickle planar cell polarity protein 1 JBrowse link 7 134,702,964 134,799,437 RGD:13592920
G Ror2 receptor tyrosine kinase-like orphan receptor 2 JBrowse link 17 11,953,552 12,134,386 RGD:7240710
RGD:8554872
RGD:11535948
RGD:11537347
RGD:11537348
RGD:11554173

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Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      Robinow syndrome 8
        autosomal recessive Robinow syndrome 2
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      Skin and Connective Tissue Diseases 4211
        connective tissue disease 2763
          bone disease 2215
            bone development disease 983
              Dwarfism 308
                Robinow syndrome 8
                  autosomal recessive Robinow syndrome 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.