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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 3C
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Accession:DOID:0111722 term browser browse the term
Definition:An amelogenesis imperfecta type 3 that is characterized by hypocalcified enamel in both the primary and secondary dentition and that has_material_basis_in homozygous mutation in the RELT gene on chromosome 11q13. (DO)
Synonyms:exact_synonym: AI3C;   amelogenesis imperfecta type IIIC;   amelogenesis imperfecta, hypocalcification type, autosomal recessive
 primary_id: OMIM:618386
For additional species annotation, visit the Alliance of Genome Resources.



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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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    Stomatognathic Diseases 1158
      tooth disease 296
        teeth hard tissue disease 71
          dental enamel hypoplasia 63
            amelogenesis imperfecta 54
              amelogenesis imperfecta type 3 3
                amelogenesis imperfecta type 3C 1
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        sensory system disease 6555
          mouth disease 837
            tooth disease 296
              Tooth Abnormalities 154
                dental enamel hypoplasia 63
                  amelogenesis imperfecta 54
                    amelogenesis imperfecta type 3 3
                      amelogenesis imperfecta type 3C 1
paths to the root