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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 3
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Accession:DOID:0060767 term browser browse the term
Definition:A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has_material_basis_in heterozygous mutation in the DVL3 gene on chromosome 3q27. (DO)
Synonyms:exact_synonym: DRS3;   DVL3-RELATED CONDITION
 primary_id: MIM:616894
 xref: ORDO:97360



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autosomal dominant Robinow syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 3 | ClinVar Annotator: match by term: DVL3-related condition OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:23806086 PMID:24088041 PMID:25741868 More... NCBI chr11:80,365,446...80,382,641
Ensembl chr11:80,366,117...80,382,462
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G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 3 ClinVar PMID:29276006 NCBI chr10:87,561,866...87,563,776
Ensembl chr10:87,561,326...87,565,334
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19076
    syndrome 11109
      Robinow syndrome 9
        autosomal dominant Robinow syndrome 3 2
Path 2
Term Annotations click to browse term
  disease 19076
    disease of anatomical entity 18367
      musculoskeletal system disease 8464
        connective tissue disease 5941
          bone disease 4396
            bone development disease 2366
              Dwarfism 865
                Robinow syndrome 9
                  autosomal dominant Robinow syndrome 3 2
paths to the root