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ONTOLOGY REPORT - ANNOTATIONS


Term:achondrogenesis
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Accession:DOID:0080043 term browser browse the term
Definition:An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disaprportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period. (DO)
Synonyms:exact_synonym: Achondrogenesis Syndrome
 primary_id: MESH:C579878
 alt_id: RDO:0015859
 xref: GARD:2882;   OMIM:PS200600
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show annotations for term's descendants       view all columns           Sort by:
 
achondrogenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc26a2 solute carrier family 26 member 2 JBrowse link 18 56,518,999 56,534,539 RGD:8554872
G Trip11 thyroid hormone receptor interactor 11 JBrowse link 6 125,741,520 125,812,926 RGD:8554872
achondrogenesis type IA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trip11 thyroid hormone receptor interactor 11 JBrowse link 6 125,741,520 125,812,926 RGD:7240710
RGD:8554872
achondrogenesis type IB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc26a2 solute carrier family 26 member 2 JBrowse link 18 56,518,999 56,534,539 RGD:7240710
RGD:8554872
RGD:11068488
achondrogenesis type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      bone development disease 994
        osteochondrodysplasia 408
          achondrogenesis 3
            achondrogenesis type IA 1
            achondrogenesis type IB 1
            achondrogenesis type II 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      Skin and Connective Tissue Diseases 4223
        connective tissue disease 2775
          bone disease 2227
            bone development disease 994
              osteochondrodysplasia 408
                achondrogenesis 3
                  achondrogenesis type IA 1
                  achondrogenesis type IB 1
                  achondrogenesis type II 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.