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ONTOLOGY REPORT - ANNOTATIONS


Term:brachyolmia
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Accession:DOID:0050690 term browser browse the term
Definition:An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature. (DO)
Synonyms:exact_synonym: brachyrachia
 primary_id: MESH:C537098
 alt_id: DOID:9008880;   RDO:0002872
 xref: GARD:10903;   ORDO:1293
For additional species annotation, visit the Alliance of Genome Resources.


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brachyolmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ltbp3 latent transforming growth factor beta binding protein 3 JBrowse link 1 221,099,155 221,116,096 RGD:11554173
G Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 JBrowse link 1 251,145,264 251,230,716 RGD:8554872
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:8554872
RGD:13592920
Brachyolmia Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:8554872
Brachyolmia Type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:7240710
RGD:8554872
brachyolmia-amelogenesis imperfecta syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ltbp3 latent transforming growth factor beta binding protein 3 JBrowse link 1 221,099,155 221,116,096 RGD:7240710
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
          brachyolmia 3
            Brachyolmia Type 1, Hobaek Type 0
            Brachyolmia Type 2 1
            Brachyolmia Type 3 1
            brachyolmia-amelogenesis imperfecta syndrome 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
                brachyolmia 3
                  Brachyolmia Type 1, Hobaek Type 0
                  Brachyolmia Type 2 1
                  Brachyolmia Type 3 1
                  brachyolmia-amelogenesis imperfecta syndrome 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.