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ONTOLOGY REPORT - ANNOTATIONS


Term:Geleophysic Dysplasia 2
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Accession:DOID:9005971 term browser browse the term
Definition:GPHYSD2 is an autosomal dominant form of the disorder caused by heterozygous mutation in exon 41 or 42 of the FBN1 gene on chromosome 15q21.1. (OMIM)
Synonyms:exact_synonym: GPHYSD2
 primary_id: OMIM:614185
 alt_id: RDO:9000311
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Geleophysic Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15619
    Pathological Conditions, Signs and Symptoms 8030
      Pathologic Processes 5078
        Growth Disorders 246
          Geleophysic Dysplasia 3
            Geleophysic Dysplasia 2 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
                acromicric dysplasia 5
                  Geleophysic Dysplasia 3
                    Geleophysic Dysplasia 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.