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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 type 2A1
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Accession:DOID:0110057 term browser browse the term
Definition:An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the kallikrein-4 gene (KLK4) on chromosome 19q13. (DO)
Synonyms:exact_synonym: AI2A1;   amelogenesis imperfecta pigmented hypomaturation type;   amelogenesis imperfecta pigmented hypomaturation type 1;   amelogenesis imperfecta type IIA1;   amelogenesis imperfecta, hypomaturation type, IIA1
 primary_id: MESH:C567146
 alt_id: MESH:C538242;   OMIM:204700
 xref: GARD:9495
For additional species annotation, visit the Alliance of Genome Resources.



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amelogenesis imperfecta type 2A1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klk4 kallikrein-related peptidase 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 2A1 OMIM
ClinVar
PMID:204700 PMID:15235027 PMID:21597265 PMID:23355523 PMID:28611678 NCBI chr 1:94,344,608...94,348,979
Ensembl chr 1:94,344,195...94,349,424
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    Stomatognathic Diseases 1148
      tooth disease 296
        teeth hard tissue disease 71
          dental enamel hypoplasia 63
            amelogenesis imperfecta 54
              Amelogenesis Imperfecta Hypomaturation Type 6
                amelogenesis imperfecta type 2A1 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        sensory system disease 6469
          mouth disease 829
            tooth disease 296
              Tooth Abnormalities 154
                dental enamel hypoplasia 63
                  amelogenesis imperfecta 54
                    Amelogenesis Imperfecta Hypomaturation Type 6
                      amelogenesis imperfecta type 2A1 1
paths to the root