ONTOLOGY REPORT - ANNOTATIONS


Term:amelogenesis imperfecta type 1B
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Accession:DOID:0110052 term browser browse the term
Definition:An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the enamelin gene (ENAM) on chromosome 4q13. (DO)
Synonyms:exact_synonym: AI1B;   AIH2;   amelogenesis imperfecta type IB;   hereditary localized enamel hypoplasia;   hypoplastic local amelogenesis imperfecta, autosomal dominant
 related_synonym: amelogenesis imperfecta, dominant
 primary_id: MESH:C562879
 alt_id: OMIM:104500;   RDO:0012410
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amelogenesis imperfecta type 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dlx3 distal-less homeobox 3 JBrowse link 10 82,937,971 82,943,367 RGD:8554872
G Enam enamelin JBrowse link 14 21,194,635 21,219,529 RGD:1598908
RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14823
    Stomatognathic Diseases 845
      tooth disease 223
        teeth hard tissue disease 36
          dental enamel hypoplasia 30
            amelogenesis imperfecta 28
              amelogenesis imperfecta type 1B 2
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        sensory system disease 4244
          mouth disease 658
            tooth disease 223
              Tooth Abnormalities 103
                dental enamel hypoplasia 30
                  amelogenesis imperfecta 28
                    amelogenesis imperfecta type 1B 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.