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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


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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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:27693231 NCBI chr 6:120,135,620...120,166,089
Ensembl chr 6:120,135,436...120,166,089 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          monogenic disease 10420
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                amelogenesis imperfecta type 2A6 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        Neurologic Manifestations 10053
          sensory system disease 6962
            mouth disease 1019
              tooth disease 446
                Tooth Abnormalities 284
                  dental enamel hypoplasia 110
                    amelogenesis imperfecta 58
                      Amelogenesis Imperfecta Hypomaturation Type 6
                        amelogenesis imperfecta type 2A6 1
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