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ONTOLOGY REPORT - ANNOTATIONS


Term:metaphyseal dysplasia
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Accession:DOID:0080019 term browser browse the term
Definition:An osteochondrodysplasia that results_in thinning and the tendency to fracture located_in bone. (DO)
Synonyms:exact_synonym: Bakwin-Krida syndrome;   Edwin Pyle disease;   PYL;   Pyle disease;   Pyle metaphyseal dysplasia;   Pyle's disease;   Pyle-Cohn syndrome;   metaphyseal dysplasia with little involvement of the cranial bones
 primary_id: MESH:C536252
 alt_id: OMIM:265900;   RDO:0001751
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
metaphyseal dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sfrp4 secreted frizzled-related protein 4 JBrowse link 17 47,383,983 47,394,065 RGD:8554872
RGD:7240710
IMAGEI Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pole DNA polymerase epsilon, catalytic subunit JBrowse link 12 52,403,533 52,452,075 RGD:8554872
RGD:7240710
Jansen's metaphyseal chondrodysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pth1r parathyroid hormone 1 receptor JBrowse link 8 118,984,531 119,012,803 RGD:8554872
RGD:7240710
Schmid metaphyseal chondrodysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col10a1 collagen type X alpha 1 chain JBrowse link 20 41,180,295 41,190,664 RGD:7240710
RGD:8554872
RGD:11554173
G Nt5dc1 5'-nucleotidase domain containing 1 JBrowse link 20 41,106,990 41,209,765 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      bone development disease 994
        osteochondrodysplasia 408
          metaphyseal dysplasia 5
            IMAGEI Syndrome 1
            Jansen's metaphyseal chondrodysplasia 1
            Schmid metaphyseal chondrodysplasia 2
            Shwachman-Diamond type metaphyseal dysplasia 0
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
                metaphyseal dysplasia 5
                  IMAGEI Syndrome 1
                  Jansen's metaphyseal chondrodysplasia 1
                  Schmid metaphyseal chondrodysplasia 2
                  Shwachman-Diamond type metaphyseal dysplasia 0
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.