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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:Tooth Demineralization
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Accession:DOID:9004003 term browser browse the term
Definition:A tooth's loss of minerals, such as calcium in hydroxyapatite from the tooth matrix, caused by acidic exposure. An example of the occurrence of demineralization is in the formation of dental caries.
Synonyms:exact_synonym: Tooth Hypomineralization;   Tooth Hypomineralizations
 primary_id: MESH:D017001;   RDO:0005327
For additional species annotation, visit the Alliance of Genome Resources.


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Tooth Demineralization term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO associated with Rickets, Hypophosphatemic;DNA:snps, missense mutation, nonsense mutation:multiple (human) RGD PMID:23325605 RGD:11558022 NCBI chr12:17,913,771...17,972,733
Ensembl chr12:17,913,767...17,972,737
JBrowse link
dental caries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1b interleukin 1 beta ISO DNA:SNP: :rs1143627C>T (human) RGD PMID:30803280 RGD:14975276 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO RGD PMID:29594988 RGD:14928324 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
Odontohypophosphatasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpl alkaline phosphatase, biomineralization associated ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Odontohypophosphatasia
ClinVar Annotator: match by term: Low alkaline phosphatase
ClinVar PMID:1409720 PMID:8675582 PMID:10094560 PMID:10332035 PMID:10679946 PMID:10872988 PMID:11438998 PMID:11479741 PMID:11855933 PMID:12357339 PMID:12920074 PMID:15671102 PMID:17719863 PMID:18340466 PMID:19232125 PMID:19500388 PMID:20739387 PMID:21168482 PMID:24569605 PMID:25716980 PMID:25731960 PMID:25741868 PMID:28492532 PMID:28663156 PMID:30719581 PMID:31641588 NCBI chr 5:156,086,496...156,141,513
Ensembl chr 5:156,086,497...156,141,537
JBrowse link
root caries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin susceptibility ISO RGD PMID:17959907 RGD:11035291 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    Stomatognathic Diseases 977
      tooth disease 288
        Tooth Demineralization 5
          Odontohypophosphatasia 1
          dental caries + 3
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        sensory system disease 5332
          mouth disease 758
            tooth disease 288
              Tooth Demineralization 5
                Odontohypophosphatasia 1
                dental caries + 3
paths to the root