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ONTOLOGY REPORT - ANNOTATIONS


Term:OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE
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Accession:DOID:9000260 term browser browse the term
Definition:A disease displaying severe skeletal osteopenia, microcephaly, multiple fractures, and congenital anomalies including ascites, pleural effusion, and intracranial ventriculomegaly. (OMIM)
Synonyms:exact_synonym: OCLSBG;   Symoens-Barnes-Gistelinck type of complex lethal osteochondrodysplasia
 primary_id: OMIM:616897;   RDO:9001172
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OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tapt1 transmembrane anterior posterior transformation 1 JBrowse link 14 71,416,153 71,462,646 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      bone development disease 983
        osteochondrodysplasia 408
          OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      Skin and Connective Tissue Diseases 4211
        connective tissue disease 2763
          bone disease 2215
            bone development disease 983
              osteochondrodysplasia 408
                OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.