ONTOLOGY REPORT - ANNOTATIONS


Term:amelogenesis imperfecta hypomaturation type 2A2
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Accession:DOID:0110060 term browser browse the term
Definition:An amelogenesis imperfecta that has material basis in homozygous mutation in the matrix metalloproteinase-20 gene (MMP20). (DO)
Synonyms:exact_synonym: Ai2a2;   amelogenesis imperfecta hypomaturation type IIA2;   amelogenesis imperfecta type IIA2;   amelogenesis imperfecta, pigmented hypomaturation type, 2
 primary_id: MESH:C567279
 alt_id: OMIM:612529;   RDO:0015395
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amelogenesis imperfecta hypomaturation type 2A2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mmp20 matrix metallopeptidase 20 JBrowse link 8 5,823,147 5,875,555 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14875
    Stomatognathic Diseases 847
      tooth disease 224
        teeth hard tissue disease 36
          dental enamel hypoplasia 30
            amelogenesis imperfecta 28
              Amelogenesis Imperfecta Hypomaturation Type 6
                amelogenesis imperfecta hypomaturation type 2A2 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          mouth disease 660
            tooth disease 224
              Tooth Abnormalities 103
                dental enamel hypoplasia 30
                  amelogenesis imperfecta 28
                    Amelogenesis Imperfecta Hypomaturation Type 6
                      amelogenesis imperfecta hypomaturation type 2A2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.