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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:metatropic dysplasia
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Accession:DOID:0111514 term browser browse the term
Definition:A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. (DO)
Synonyms:exact_synonym: metatrophic dysplasia;   metatropic dwarfism;   metatropic dysplasia 1;   metatropic dysplasia type 1
 primary_id: MESH:C537356
 alt_id: OMIM:156530
 xref: GARD:3571;   NCI:C175209;   ORDO:2635


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      endocrine system disease 6819
        Dwarfism 865
          metatropic dysplasia 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        connective tissue disease 5786
          bone disease 4302
            bone development disease 2307
              osteochondrodysplasia 861
                spondyloepimetaphyseal dysplasia 88
                  metatropic dysplasia 1
paths to the root