ONTOLOGY REPORT - ANNOTATIONS


Term:chondrodysplasia Blomstrand type
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Accession:DOID:0060387 term browser browse the term
Definition:An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has_material_basis_in autosomal recessive inheritance of mutation in the PTH1R gene. (DO)
Synonyms:exact_synonym: BOCD;   Blomstrand lethal chondrodysplasia;   Blomstrand lethal osteochondrodysplasia;   Blomstrand osteochondrodysplasia;   Blomstrand syndrome;   Lethal congenital dwarfism with accelerated skeletal maturation
 primary_id: MESH:C537914
 alt_id: OMIM:215045;   RDO:0003832
 xref: GARD:914;   ORDO:50945
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chondrodysplasia Blomstrand type 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

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Term Annotations click to browse term
  disease 14926
    disease of cellular proliferation 5589
      Hereditary Neoplastic Syndromes 646
        hereditary multiple exostoses 7
          chondrodysplasia Blomstrand type 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      Skin and Connective Tissue Diseases 3929
        connective tissue disease 2585
          bone disease 2125
            bone development disease 895
              osteochondrodysplasia 406
                Osteochondroma 7
                  Osteochondromatosis 7
                    hereditary multiple exostoses 7
                      chondrodysplasia Blomstrand type 1
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