ONTOLOGY REPORT - ANNOTATIONS


Term:Amelogenesis Imperfecta Type 3C
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Accession:DOID:9009085 term browser browse the term
Definition:Amelogenesis imperfecta type IIIC is characterized by hypocalcified enamel in both the primary and secondary dentition. The enamel is rough and yellow-brown; under normal use, the enamel disintegrates from occlusal surfaces of the molars, leaving a ring of intact enamel remaining on the sides. Some affected individuals have anterior open bite. AI3C is caused by homozygous mutation in the RELT gene on chromosome 11q13. (OMIM)
Synonyms:exact_synonym: AI3C;   AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL RECESSIVE
 primary_id: OMIM:618386
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Amelogenesis Imperfecta Type 3C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Relt RELT, TNF receptor JBrowse link 1 165,884,407 165,902,022 RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 14926
    Stomatognathic Diseases 853
      tooth disease 228
        teeth hard tissue disease 38
          dental enamel hypoplasia 32
            amelogenesis imperfecta 30
              Amelogenesis Imperfecta Type 3C 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        sensory system disease 4267
          mouth disease 665
            tooth disease 228
              Tooth Abnormalities 106
                dental enamel hypoplasia 32
                  amelogenesis imperfecta 30
                    Amelogenesis Imperfecta Type 3C 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.