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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 3
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Accession:DOID:0111721 term browser browse the term
Definition:An amelogenesis imperfecta characterized by soft enamel that is initially of normal thickness but lost soon after tooth eruption. (DO)
Synonyms:exact_synonym: AI3;   amelogenesis imperfecta type III;   hypocalcified amelogenesis imperfecta
 xref: ORDO:100032

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amelogenesis imperfecta type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM83H family with sequence similarity 83 member H ISO ClinVar Annotator: match by term: hypocalcified amelogenesis imperfecta ClinVar PMID:18252228 PMID:18484629 PMID:19407157 PMID:22414746 PMID:25741868 More... NCBI chr 8:137,941,390...137,949,992
Ensembl chr 8:137,941,754...137,949,394 		JBrowse link
amelogenesis imperfecta type 3A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM83H family with sequence similarity 83 member H ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOMINERALIZATION TYPE | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IIIA | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3A | ClinVar Annotator: match by term: FAM83H-related condition OMIM
ClinVar		 PMID:18252228 PMID:18484629 PMID:19220331 PMID:19407157 PMID:22414746 More... NCBI chr 8:137,941,390...137,949,992
Ensembl chr 8:137,941,754...137,949,394 		JBrowse link
amelogenesis imperfecta type 3B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMTN amelotin ISO ClinVar Annotator: match by term: AMTN-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 7:18,982,101...19,041,207 JBrowse link
amelogenesis imperfecta type 3C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RELT RELT TNF receptor ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3C | ClinVar Annotator: match by term: RELT-related condition OMIM
ClinVar		 PMID:28492532 PMID:30506946 PMID:32052416 NCBI chr 1:64,620,843...64,641,180
Ensembl chr 1:64,633,421...64,640,019 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15416
    Stomatognathic Diseases 1309
      tooth disease 449
        teeth hard tissue disease 116
          dental enamel hypoplasia 106
            amelogenesis imperfecta 57
              amelogenesis imperfecta type 3 3
                amelogenesis imperfecta type 3A 1
                amelogenesis imperfecta type 3B 1
                amelogenesis imperfecta type 3C 1
Path 2
Term Annotations click to browse term
  disease 15416
    disease of anatomical entity 15079
      nervous system disease 13229
        Neurologic Manifestations 9821
          sensory system disease 6938
            mouth disease 989
              tooth disease 449
                Tooth Abnormalities 292
                  dental enamel hypoplasia 106
                    amelogenesis imperfecta 57
                      amelogenesis imperfecta type 3 3
                        amelogenesis imperfecta type 3A 1
                        amelogenesis imperfecta type 3B 1
                        amelogenesis imperfecta type 3C 1
paths to the root