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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
For additional species annotation, visit the Alliance of Genome Resources.


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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Stomatognathic Diseases 866
      tooth disease 239
        teeth hard tissue disease 40
          dental enamel hypoplasia 32
            amelogenesis imperfecta 30
              Amelogenesis Imperfecta Hypomaturation Type 6
                amelogenesis imperfecta hypomaturation type 2A2 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          mouth disease 677
            tooth disease 239
              Tooth Abnormalities 112
                dental enamel hypoplasia 32
                  amelogenesis imperfecta 30
                    Amelogenesis Imperfecta Hypomaturation Type 6
                      amelogenesis imperfecta hypomaturation type 2A2 1
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