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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:amelogenesis imperfecta type 3B
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Accession:DOID:0080243 term browser browse the term
Definition:An amelogenesis imperfecta type 3 that is characterized by enamel that is reduced in mineral density and is thin, chipped, and absent in places and that has_material_basis_in heterozygous mutation in the amelotin gene. (DO)
Synonyms:exact_synonym: AI3B
 primary_id: OMIM:617607
For additional species annotation, visit the Alliance of Genome Resources.



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amelogenesis imperfecta type 3B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amtn amelotin ISO OMIM NCBI chr14:19,648,624...19,661,181
Ensembl chr14:19,648,625...19,661,181
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Stomatognathic Diseases 1028
      tooth disease 300
        teeth hard tissue disease 69
          dental enamel hypoplasia 61
            amelogenesis imperfecta 53
              amelogenesis imperfecta type 3 3
                amelogenesis imperfecta type 3B 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          mouth disease 800
            tooth disease 300
              Tooth Abnormalities 156
                dental enamel hypoplasia 61
                  amelogenesis imperfecta 53
                    amelogenesis imperfecta type 3 3
                      amelogenesis imperfecta type 3B 1
paths to the root