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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 on chromosome 8q24. (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

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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 term: AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IIIA OMIM
ClinVar		 PMID:18252228 PMID:18484629 PMID:19220331 PMID:19407157 PMID:22414746 More... NCBI chrNW_004936470:8,413,055...8,418,360
Ensembl chrNW_004936470:8,406,912...8,418,895 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          monogenic disease 9607
            autosomal genetic disease 8891
              autosomal dominant disease 5828
                amelogenesis imperfecta type 3A 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        Neurologic Manifestations 9046
          sensory system disease 6281
            mouth disease 930
              tooth disease 408
                Tooth Abnormalities 269
                  dental enamel hypoplasia 104
                    amelogenesis imperfecta 56
                      amelogenesis imperfecta type 3 3
                        amelogenesis imperfecta type 3A 1
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