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ONTOLOGY REPORT - ANNOTATIONS


Term:hypochondroplasia
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Accession:DOID:0080041 term browser browse the term
Definition:An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism. (DO)
Synonyms:exact_synonym: HCH;   Hypochondrodysplasia
 primary_id: MESH:C562937
 alt_id: OMIM:146000;   RDO:0012438
 xref: GARD:6724;   ORDO:429
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hypochondroplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:7240710
RGD:8554872
RGD:11568026

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      endocrine system disease 4798
        Dwarfism 308
          hypochondroplasia 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      Skin and Connective Tissue Diseases 4211
        connective tissue disease 2763
          bone disease 2215
            bone structure disease 80
              Spinal Curvatures 52
                Lordosis 2
                  hypochondroplasia 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.