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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
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 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 chr 7:107,716,431...107,724,619
Ensembl chr 7:107,716,431...107,728,672
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 OMIM NCBI chr14:19,648,624...19,661,181
Ensembl chr14:19,648,625...19,661,181
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 OMIM
ClinVar
PMID:28492532 PMID:30506946 PMID:32052416 NCBI chr 1:155,206,976...155,224,609
Ensembl chr 1:155,206,976...155,214,196
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    Stomatognathic Diseases 1158
      tooth disease 297
        teeth hard tissue disease 72
          dental enamel hypoplasia 64
            amelogenesis imperfecta 55
              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 18145
    disease of anatomical entity 17519
      nervous system disease 13182
        sensory system disease 6393
          mouth disease 836
            tooth disease 297
              Tooth Abnormalities 155
                dental enamel hypoplasia 64
                  amelogenesis imperfecta 55
                    amelogenesis imperfecta type 3 3
                      amelogenesis imperfecta type 3A 1
                      amelogenesis imperfecta type 3B 1
                      amelogenesis imperfecta type 3C 1
paths to the root