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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 2A5
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Accession:DOID:0110063 term browser browse the term
Definition:Autosomal recessive amelogenesis imperfecta of the pigmented hypomaturation type characterized by slightly soft enamel of normal thickness that is hypomineralized and detaches easily from the dentin. (OMIM)
Synonyms:exact_synonym: AI2A5;   amelogenesis imperfecta type IIA5;   amelogenesis imperfecta, hypomaturation type, IIA5
 primary_id: OMIM:615887
 alt_id: RDO:9001335
For additional species annotation, visit the Alliance of Genome Resources.


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amelogenesis imperfecta hypomaturation type 2A5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc24a4 solute carrier family 24 member 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type IIA5 OMIM
ClinVar
PMID:23375655, PMID:24621671 NCBI chr 6:126,015,799...126,158,727
Ensembl chr 6:126,018,841...126,153,867
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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 2A5 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 2A5 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.