ONTOLOGY REPORT - ANNOTATIONS


Term:dentinogenesis imperfecta
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Accession:DOID:4154 term browser browse the term
Definition:An autosomal dominant disorder of tooth development characterized by opalescent dentin resulting in discoloration of the teeth. The dentin develops poorly with low mineral content while the pulp canal is obliterated.
Synonyms:exact_synonym: Capdepont Teeth;   DGI-II;   DGI1;   Dentinogenesis Imperfecta 1;   Dentinogenesis Imperfecta without Osteogenesis Imperfecta;   Dentinogenesis Imperfecta, Shields Type 2;   Dentinogenesis Imperfecta, Shields Type Ii;   Hereditary Opalescent Dentin;   OPALESCENT DENTIN;   Opalescent Teeth without Osteogenesis Imperfecta
 primary_id: MESH:D003811;   RDO:0000097
 alt_id: OMIM:125490;   RDO:0000096
 xref: GARD:6258
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dentinogenesis imperfecta term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:11571615
RGD:8554872
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:8554872
G Dspp dentin sialophosphoprotein JBrowse link 14 6,926,972 6,933,079 RGD:734904
RGD:12910984
RGD:8554872
RGD:7240710
Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dspp dentin sialophosphoprotein JBrowse link 14 6,926,972 6,933,079 RGD:7240710
RGD:8554872
RGD:12910984
Dentinogenesis Imperfecta, Shields Type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dspp dentin sialophosphoprotein JBrowse link 14 6,926,972 6,933,079 RGD:7240710
RGD:8554872
RGD:12911015
osteogenesis imperfecta type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:8554872
RGD:7240710
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:8554872
G Itga3 integrin subunit alpha 3 JBrowse link 10 82,855,841 82,887,755 RGD:8554872
G Pdk2 pyruvate dehydrogenase kinase 2 JBrowse link 10 82,838,270 82,852,758 RGD:8554872
G Ppp1r9b protein phosphatase 1, regulatory subunit 9B JBrowse link 10 82,800,704 82,816,735 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:8554872
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:8554872
G Samd14 sterile alpha motif domain containing 14 JBrowse link 10 82,820,457 82,838,046 RGD:8554872
G Sgca sarcoglycan, alpha JBrowse link 10 82,770,905 82,785,142 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14926
    Stomatognathic Diseases 853
      tooth disease 228
        dentinogenesis imperfecta 10
          Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 1
          Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta 0
          Dentinogenesis Imperfecta, Shields Type 3 1
          Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta 0
          osteogenesis imperfecta type 1 9
          osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures 0
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        sensory system disease 4267
          mouth disease 665
            tooth disease 228
              Tooth Abnormalities 106
                dentinogenesis imperfecta 10
                  Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 1
                  Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta 0
                  Dentinogenesis Imperfecta, Shields Type 3 1
                  Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta 0
                  osteogenesis imperfecta type 1 9
                  osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures 0
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.