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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: MIM:601438


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18973
    Developmental Disease 14386
      bone development disease 2309
        Rhizomelic Dysplasia Patterson Lowry Type 0
Path 2
Term Annotations click to browse term
  disease 18973
    Developmental Disease 14386
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13391
        Congenital Abnormalities 7591
          Musculoskeletal Abnormalities 3307
            Congenital Limb Deformities 1023
              Congenital Upper Extremity Deformities 215
                Congenital Hand Deformities 186
                  Rhizomelic Dysplasia Patterson Lowry Type 0
paths to the root