ONTOLOGY REPORT - ANNOTATIONS


Term:amelogenesis imperfecta type 1A
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Accession:DOID:0110054 term browser browse the term
Definition:An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the beta-3 laminin gene (LAMB3) on chromosome 1q32. (DO)
Synonyms:exact_synonym: AI1A;   AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA;   AMELOGENESIS IMPERFECTA, TYPE IA;   Amelogenesis Imperfecta Local Hypoplastic Form;   Hypoplastic type amelogenesis imperfecta;   Local, hypoplastic type of amelogenesis imperfecta;   generalized microdontia
 primary_id: MESH:C538240
 alt_id: OMIM:104530;   RDO:0004192
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amelogenesis imperfecta type 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lamb3 laminin subunit beta 3 JBrowse link 13 112,031,614 112,073,187 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 1A 1
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 1A 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.