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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 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

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autosomal dominant Robinow syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chn1 chimerin 1 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 ClinVar NCBI chrNW_004936509:4,507,042...4,677,681
Ensembl chrNW_004936509:4,506,311...4,678,313 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 OMIM
ClinVar		 PMID:10319206 PMID:23806086 PMID:24088041 PMID:25045061 PMID:25741868 More... NCBI chrNW_004936737:1,797,348...1,811,043
Ensembl chrNW_004936737:1,797,326...1,810,286 		JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 ClinVar PMID:23806086 PMID:24088041 PMID:25741868 PMID:26924530 PMID:29276006 NCBI chrNW_004936578:5,693,433...5,710,137
Ensembl chrNW_004936578:5,693,342...5,710,143 		JBrowse link
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 ClinVar PMID:24458798 PMID:25741868 PMID:25759469 PMID:28492532 PMID:29276006 More... NCBI chrNW_004936541:965,135...967,018
Ensembl chrNW_004936541:965,131...966,798 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9491
      Robinow syndrome 9
        autosomal dominant Robinow syndrome 2 4
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      musculoskeletal system disease 7378
        connective tissue disease 5008
          bone disease 3672
            bone development disease 2182
              Dwarfism 810
                Robinow syndrome 9
                  autosomal dominant Robinow syndrome 2 4
paths to the root