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ONTOLOGY REPORT - ANNOTATIONS


Term:amelogenesis imperfecta type 1C
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Accession:DOID:0110056 term browser browse the term
Definition:An amelogenesis imperfecta that has material basis in homozygous mutation in the enamelin gene (ENAM). (DO)
Synonyms:exact_synonym: AI1C;   Amelogenesis Imperfecta, Hypoplastic, With Or Without Openbite Malocclusion, Autosomal Recessive;   Amelogenesis Imperfecta, Local Hypoplastic Type, Autosomal Recessive;   amelogenesis imperfecta type IC
 related_synonym: amelogenesis imperfecta, recessive
 primary_id: MESH:C567147
 alt_id: OMIM:204650;   RDO:0015301
For additional species annotation, visit the Alliance of Genome Resources.


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amelogenesis imperfecta type 1C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Enam enamelin JBrowse link 14 21,194,635 21,219,529 RGD:7240710
RGD:8554872
G Mmp20 matrix metallopeptidase 20 JBrowse link 8 5,823,147 5,875,555 RGD:8554872
G Wdr72 WD repeat domain 72 JBrowse link 8 80,965,734 81,125,710 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    Stomatognathic Diseases 867
      tooth disease 238
        teeth hard tissue disease 38
          dental enamel hypoplasia 32
            amelogenesis imperfecta 30
              amelogenesis imperfecta type 1C 3
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      nervous system disease 10196
        sensory system disease 4659
          mouth disease 678
            tooth disease 238
              Tooth Abnormalities 112
                dental enamel hypoplasia 32
                  amelogenesis imperfecta 30
                    amelogenesis imperfecta type 1C 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.