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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive Robinow syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prickle1 prickle planar cell polarity protein 1 ISS OMIM:268310 MouseDO NCBI chr 7:134,702,964...134,799,437
Ensembl chr 7:134,702,964...134,722,215
JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO ClinVar Annotator: match by OMIM:268310
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly
ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals
DNA:nonsense mutation:cds:p.W749X(mouse)
DNA:missense mutations:exons: c.545G>A (p.C182Y),c.227G>A (p.G76D), c.668G>A (p.C223Y)(human)
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:10932186, PMID:10932187, PMID:10986040, PMID:12815588, PMID:15952209, PMID:16049033, PMID:17665217, PMID:18252861, PMID:18414213, PMID:18831060, PMID:19640924, PMID:25741868, PMID:26284319, PMID:28492532, PMID:18353862, PMID:14745966, PMID:24932600 RGD:11535948, RGD:11537347, RGD:11537348 NCBI chr17:11,953,552...12,134,386
Ensembl chr17:11,953,552...12,134,386
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Robinow syndrome 8
        autosomal recessive Robinow syndrome 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4099
          bone disease 3528
            bone development disease 1335
              Dwarfism 493
                Robinow syndrome 8
                  autosomal recessive Robinow syndrome 2
paths to the root

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