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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 chr14:21,282,488...21,301,966
Ensembl chr14:21,286,510...21,299,068
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Stomatognathic Diseases 966
      tooth disease 282
        teeth hard tissue disease 63
          dental enamel hypoplasia 55
            amelogenesis imperfecta 52
              amelogenesis imperfecta type 3 3
                amelogenesis imperfecta type 3B 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        sensory system disease 5245
          mouth disease 747
            tooth disease 282
              Tooth Abnormalities 145
                dental enamel hypoplasia 55
                  amelogenesis imperfecta 52
                    amelogenesis imperfecta type 3 3
                      amelogenesis imperfecta type 3B 1
paths to the root