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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:Roy Maroteaux Kremp Syndrome
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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: MIM:250500


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    syndrome 11370
      Roy Maroteaux Kremp Syndrome 0
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      musculoskeletal system disease 8463
        connective tissue disease 5917
          bone disease 4362
            bone development disease 2385
              osteochondrodysplasia 881
                osteosclerosis 60
                  osteopetrosis 29
                    Roy Maroteaux Kremp Syndrome 0
paths to the root