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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 hypomaturation type 2A3
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Accession:DOID:0110061 term browser browse the term
Definition:An amelogenesis imperfecta caused by homozygous mutation in the WDR72 gene. (DO)
Synonyms:exact_synonym: AI2A3;   amelogenesis imperfecta hypomaturation type IIA3;   amelogenesis imperfecta type IIA3
 primary_id: MESH:C567706
 alt_id: OMIM:613211
For additional species annotation, visit the Alliance of Genome Resources.



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amelogenesis imperfecta hypomaturation type 2A3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A3 OMIM
ClinVar
PMID:19853237 PMID:20938048 PMID:24033266 PMID:25741868 PMID:30028003 NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    Stomatognathic Diseases 1190
      tooth disease 316
        teeth hard tissue disease 72
          dental enamel hypoplasia 64
            amelogenesis imperfecta 55
              Amelogenesis Imperfecta Hypomaturation Type 6
                amelogenesis imperfecta hypomaturation type 2A3 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        sensory system disease 6410
          mouth disease 867
            tooth disease 316
              Tooth Abnormalities 174
                dental enamel hypoplasia 64
                  amelogenesis imperfecta 55
                    Amelogenesis Imperfecta Hypomaturation Type 6
                      amelogenesis imperfecta hypomaturation type 2A3 1
paths to the root