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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 2A6
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Accession:DOID:0080960 term browser browse the term
Definition:An amelogenesis imperfecta that is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance and that has_material_basis_in homozygous mutation in the G protein-coupled receptor-68 (GPR68) on chromosome 14q32. (DO)
Synonyms:exact_synonym: AI2A6;   Amelogenesis Imperfecta Hypomaturation Type, 2A6;   Amelogenesis Imperfecta, Hypomaturation Type, IIA6
 primary_id: OMIM:617217
 alt_id: DOID:9006208
For additional species annotation, visit the Alliance of Genome Resources.



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amelogenesis imperfecta type 2A6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIa6 ClinVar
OMIM
PMID:27693231 NCBI chr 6:120,135,620...120,166,089
Ensembl chr 6:120,135,436...120,166,089
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Stomatognathic Diseases 1148
      tooth disease 296
        teeth hard tissue disease 71
          dental enamel hypoplasia 63
            amelogenesis imperfecta 54
              Amelogenesis Imperfecta Hypomaturation Type 6
                amelogenesis imperfecta type 2A6 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        sensory system disease 6469
          mouth disease 829
            tooth disease 296
              Tooth Abnormalities 154
                dental enamel hypoplasia 63
                  amelogenesis imperfecta 54
                    Amelogenesis Imperfecta Hypomaturation Type 6
                      amelogenesis imperfecta type 2A6 1
paths to the root