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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 3A
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Accession:DOID:0110055 term browser browse the term
Definition:An amelogenesis imperfecta type 3 that has_material_basis_in heterozygous mutation in the FAM83H gene. (DO)
Synonyms:exact_synonym: ADHCAI;   AI3A;   amelogenesis imperfecta hypomineralization type;   amelogenesis imperfecta type IIIA;   amelogenesis imperfecta, hypocalcification type, autosomal dominant
 primary_id: MESH:C562880
 alt_id: OMIM:130900
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:130900
ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IIIA
OMIM
ClinVar
PMID:18252228 PMID:18484629 PMID:19220331 PMID:19407157 PMID:22414746 PMID:25741868 NCBI chr 7:117,062,748...117,070,936
Ensembl chr 7:117,062,692...117,070,936
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Stomatognathic Diseases 971
      tooth disease 285
        teeth hard tissue disease 64
          dental enamel hypoplasia 56
            amelogenesis imperfecta 53
              amelogenesis imperfecta type 3 3
                amelogenesis imperfecta type 3A 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        sensory system disease 5176
          mouth disease 750
            tooth disease 285
              Tooth Abnormalities 149
                dental enamel hypoplasia 56
                  amelogenesis imperfecta 53
                    amelogenesis imperfecta type 3 3
                      amelogenesis imperfecta type 3A 1
paths to the root