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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 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
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 chr14:21,282,488...21,301,966
Ensembl chr14:21,286,510...21,299,068
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, HYPOCALCIFICATION TYPE, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3c
OMIM
ClinVar
PMID:30506946 PMID:32052416 NCBI chr 1:165,884,407...165,902,022
Ensembl chr 1:165,884,407...165,901,923
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Stomatognathic Diseases 966
      tooth disease 282
        teeth hard tissue disease 63
          dental enamel hypoplasia 55
            amelogenesis imperfecta 52
              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 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        sensory system disease 5245
          mouth disease 747
            tooth disease 282
              Tooth Abnormalities 145
                dental enamel hypoplasia 55
                  amelogenesis imperfecta 52
                    amelogenesis imperfecta type 3 3
                      amelogenesis imperfecta type 3A 1
                      amelogenesis imperfecta type 3B 1
                      amelogenesis imperfecta type 3C 1
paths to the root