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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:146000
DNA:mutation:cds:c.1988 A>C(p.K650T)(human)
ClinVar Annotator: match by term: Hypochondroplasia
OMIM
ClinVar
PMID:1908846, PMID:1956068, PMID:4078868, PMID:4697848, PMID:7670477, PMID:7773297, PMID:7847369, PMID:8078586, PMID:8589686, PMID:8589699, PMID:8723101, PMID:8723106, PMID:8841188, PMID:8845844, PMID:8858131, PMID:9042914, PMID:9107244, PMID:9279753, PMID:9279764, PMID:9450868, PMID:9452043, PMID:9525367, PMID:9580776, PMID:9585583, PMID:9600744, PMID:9672519, PMID:9677066, PMID:9842995, PMID:9843059, PMID:9950359, PMID:10053006, PMID:10073901, PMID:10094188, PMID:10213050, PMID:10215410, PMID:10360392, PMID:10360393, PMID:10361991, PMID:10395236, PMID:10471491, PMID:10602123, PMID:10696568, PMID:10777366, PMID:10861678, PMID:11038465, PMID:11055896, PMID:11241532, PMID:11314002, PMID:11424131, PMID:11529856, PMID:11746040, PMID:11754059, PMID:11879084, PMID:12707965, PMID:12833394, PMID:14613973, PMID:15241680, PMID:15772091, PMID:15915095, PMID:16501574, PMID:16841094, PMID:16912704, PMID:17033969, PMID:17384684, PMID:17875876, PMID:17895900, PMID:17935505, PMID:17950653, PMID:18000903, PMID:18000976, PMID:18252861, PMID:18328977, PMID:18344207, PMID:18583390, PMID:18642369, PMID:19098178, PMID:19215249, PMID:19381019, PMID:19449410, PMID:19749790, PMID:20453470, PMID:21510009, PMID:21739570, PMID:22045636, PMID:22339077, PMID:22604720, PMID:23149434, PMID:23165795, PMID:23378035, PMID:23726269, PMID:23740942, PMID:24728327, PMID:24864036, PMID:25157968, PMID:25356217, PMID:25505835, PMID:25606676, PMID:25614871, PMID:25691418, PMID:25741868, PMID:25777271, PMID:25809207, PMID:25931420, PMID:26028288, PMID:26380986, PMID:26467025, PMID:26619011, PMID:26740388, PMID:26818779, PMID:26887047, PMID:28492532, PMID:30311386, PMID:32238909, PMID:18583390 RGD:11568026 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      endocrine system disease 4987
        Dwarfism 493
          hypochondroplasia 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4099
          bone disease 3528
            spinal disease 1459
              bone structure disease 102
                Spinal Curvatures 74
                  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.