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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 OMIM:613211
ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA3
OMIM
ClinVar
PMID:19853237, PMID:20938048, PMID:30028003 NCBI chr 8:80,965,734...81,125,710
Ensembl chr 8:80,965,255...81,039,246
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Stomatognathic Diseases 1001
      tooth disease 283
        teeth hard tissue disease 63
          dental enamel hypoplasia 55
            amelogenesis imperfecta 52
              Amelogenesis Imperfecta Hypomaturation Type 6
                amelogenesis imperfecta hypomaturation type 2A3 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          mouth disease 770
            tooth disease 283
              Tooth Abnormalities 150
                dental enamel hypoplasia 55
                  amelogenesis imperfecta 52
                    Amelogenesis Imperfecta Hypomaturation Type 6
                      amelogenesis imperfecta hypomaturation type 2A3 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.