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ONTOLOGY REPORT - ANNOTATIONS


Term:osteogenesis imperfecta type 14
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Accession:DOID:0110343 term browser browse the term
Definition:An osteogenesis imperfecta that has_material_basis_in mutation in the TMEM38B gene on chromosome 9q31. (DO)
Synonyms:exact_synonym: OI, type XIV;   OI14;   osteogenesis imperfecta type XIV
 primary_id: OMIM:615066
 alt_id: RDO:0016142
For additional species annotation, visit the Alliance of Genome Resources.


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osteogenesis imperfecta type 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem38b transmembrane protein 38B JBrowse link 5 70,639,156 70,675,055 RGD:7240710

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Term Annotations click to browse term
  disease 16021
    Developmental Diseases 9337
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8165
        genetic disease 7689
          monogenic disease 5447
            osteogenesis imperfecta type 14 1
Path 2
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      Skin and Connective Tissue Diseases 5375
        connective tissue disease 4009
          bone disease 3473
            bone development disease 1263
              osteochondrodysplasia 430
                osteogenesis imperfecta 39
                  osteogenesis imperfecta type 14 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.