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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:Rhizomelic Dysplasia Patterson Lowry Type
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Accession:DOID:9005339 term browser browse the term
Synonyms:exact_synonym: Patterson Lowry syndrome;   Patterson-Lowry rhizomelic dysplasia
 primary_id: MESH:C537609
 alt_id: OMIM:601438


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      bone development disease 2307
        Rhizomelic Dysplasia Patterson Lowry Type 0
Path 2
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13406
        Congenital Abnormalities 7581
          Musculoskeletal Abnormalities 3302
            Congenital Limb Deformities 1022
              Congenital Upper Extremity Deformities 214
                Congenital Hand Deformities 185
                  Rhizomelic Dysplasia Patterson Lowry Type 0
paths to the root