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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: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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO
ISS		 DNA:mutation:cds:c.1988 A>C(p.K650T)(human)
CTD Direct Evidence: marker/mechanism
OMIM:146000
ClinVar Annotator: match by term: Hypochondroplasia		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:1908846 PMID:4697848 PMID:7647778 PMID:7649548 PMID:7670477 More... RGD:11568026 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
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
          hypochondroplasia 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Skin and Connective Tissue Diseases 7461
        connective tissue disease 5786
          bone disease 4302
            bone structure disease 129
              Spinal Curvatures 83
                Lordosis 2
                  hypochondroplasia 1
paths to the root