Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP 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:Roy Maroteaux Kremp Syndrome
go back to main search page
Accession:DOID:9003614 term browser browse the term
Synonyms:exact_synonym: Metaphyseal modeling abnormality, skin lesions, and Spastic paraplegia
 primary_id: MESH:C535875
 alt_id: OMIM:250500
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    syndrome 7010
      Roy Maroteaux Kremp Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      musculoskeletal system disease 5761
        connective tissue disease 4105
          bone disease 3536
            bone development disease 1343
              osteochondrodysplasia 446
                osteosclerosis 44
                  osteopetrosis 26
                    Roy Maroteaux Kremp Syndrome 0
paths to the root