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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:Micromelic Dwarfism Fryns Type
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Accession:DOID:9003301 term browser browse the term
Synonyms:exact_synonym: micromelic dwarfism with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects;   micromelic spondyloepimetaphyseal dysplasia
 primary_id: MESH:C537556
 alt_id: MIM:601096


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97394
    Developmental Disease 35246
      bone development disease 3409
        osteochondrodysplasia 1265
          Micromelic Dwarfism Fryns Type 0
Path 2
Term Annotations click to browse term
  disease 97394
    disease of anatomical entity 91022
      musculoskeletal system disease 20998
        connective tissue disease 15993
          bone disease 12629
            bone development disease 3409
              osteochondrodysplasia 1265
                Micromelic Dwarfism Fryns Type 0
paths to the root