Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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 2
go back to main search page
Accession:DOID:9007716 term browser browse the term
Synonyms:exact_synonym: RRS2
 primary_id: OMIM:618529
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Autosomal Recessive Robinow Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nxn nucleoredoxin ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive 2 OMIM
ClinVar
PMID:25741868 PMID:29276006 NCBI chr10:61,109,323...61,247,576
Ensembl chr10:61,110,020...61,248,251
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    syndrome 9705
      Robinow syndrome 9
        Autosomal Recessive Robinow Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      musculoskeletal system disease 7230
        connective tissue disease 5120
          bone disease 3800
            bone development disease 1875
              Dwarfism 739
                Robinow syndrome 9
                  Autosomal Recessive Robinow Syndrome 2 1
paths to the root