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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
 alt_id: RDO:9001541
For additional species annotation, visit the Alliance of Genome Resources.


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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 Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 2 ClinVar
OMIM
PMID:10319206 PMID:23806086 PMID:24088041 PMID:25045061 PMID:25741868 PMID:25817014 PMID:25817016 PMID:26924530 PMID:28492532 PMID:29276006 NCBI chr 5:173,295,948...173,308,014
Ensembl chr 5:173,296,270...173,307,945
JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 2 ClinVar PMID:29276006 NCBI chr11:84,051,177...84,068,479
Ensembl chr11:84,051,078...84,068,302
JBrowse link
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 2 ClinVar PMID:25759469 PMID:29276006 NCBI chr10:90,550,147...90,552,057
Ensembl chr10:90,550,147...90,552,057
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      Robinow syndrome 8
        autosomal dominant Robinow syndrome 2 3
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      musculoskeletal system disease 5799
        connective tissue disease 4166
          bone disease 3538
            bone development disease 1344
              Dwarfism 496
                Robinow syndrome 8
                  autosomal dominant Robinow syndrome 2 3
paths to the root