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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:Amelogenesis imperfecta type IIIC is characterized by hypocalcified enamel in both the primary and secondary dentition. The enamel is rough and yellow-brown; under normal use, the enamel disintegrates from occlusal surfaces of the molars, leaving a ring of intact enamel remaining on the sides. Some affected individuals have anterior open bite. AI3C is caused by homozygous mutation in the RELT gene on chromosome 11q13. (OMIM)
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, 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
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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 3C 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 3C 1
paths to the root