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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 2A2
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Accession:DOID:0110060 term browser browse the term
Definition:An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the matrix metalloproteinase-20 gene (MMP20). (DO)
Synonyms:exact_synonym: Ai2a2;   amelogenesis imperfecta hypomaturation type IIA2;   amelogenesis imperfecta type IIA2;   amelogenesis imperfecta, pigmented hypomaturation type, 2
 primary_id: MESH:C567279
 alt_id: OMIM:612529;   RDO:0015395
For additional species annotation, visit the Alliance of Genome Resources.


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amelogenesis imperfecta hypomaturation type 2A2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by OMIM:612529
ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA2
OMIM
ClinVar
PMID:15744043, PMID:16246936, PMID:18096894, PMID:19966041, PMID:21597265, PMID:22243262, PMID:23355523, PMID:23625376, PMID:25741868, PMID:26502894, PMID:28473773, PMID:28492532, PMID:28659819 NCBI chr 8:5,823,147...5,875,555
Ensembl chr 8:5,833,359...5,875,232
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Stomatognathic Diseases 976
      tooth disease 279
        teeth hard tissue disease 63
          dental enamel hypoplasia 55
            amelogenesis imperfecta 52
              Amelogenesis Imperfecta Hypomaturation Type 6
                amelogenesis imperfecta hypomaturation type 2A2 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        sensory system disease 5162
          mouth disease 750
            tooth disease 279
              Tooth Abnormalities 148
                dental enamel hypoplasia 55
                  amelogenesis imperfecta 52
                    Amelogenesis Imperfecta Hypomaturation Type 6
                      amelogenesis imperfecta hypomaturation type 2A2 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.