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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
 xref: GARD:6724;   NCI:C118697;   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 16017
    disease of anatomical entity 15273
      endocrine system disease 4932
        Dwarfism 468
          hypochondroplasia 1
Path 2
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15273
      Skin and Connective Tissue Diseases 5365
        connective tissue disease 4002
          bone disease 3466
            spinal disease 1440
              bone structure disease 82
                Spinal Curvatures 53
                  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.