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ONTOLOGY REPORT - ANNOTATIONS


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 TRPV4 on chromosome 12q24.11. (DO)
Synonyms:exact_synonym: Metatropic Dwarfism;   metatrophic dysplasia;   metatropic dysplasia 1;   metatropic dysplasia type 1
 primary_id: MESH:C537356
 alt_id: DOID:9003532;   OMIM:156530
 xref: GARD:3571;   ORDO:2635
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metatropic dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:7240710
RGD:11554173
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      endocrine system disease 4837
        Dwarfism 310
          metatropic dysplasia 1
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      musculoskeletal system disease 4326
        connective tissue disease 2796
          bone disease 2247
            bone development disease 1008
              osteochondrodysplasia 414
                spondyloepimetaphyseal dysplasia 73
                  metatropic dysplasia 1
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