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ONTOLOGY REPORT - ANNOTATIONS


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:C538242;   MESH:C567146
 alt_id: OMIM:204700;   RDO:0004194;   RDO:0015300
 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 JBrowse Chr Start Stop Reference
G Klk4 kallikrein-related peptidase 4 JBrowse link 1 99,828,944 99,834,642 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    Stomatognathic Diseases 870
      tooth disease 241
        teeth hard tissue disease 40
          dental enamel hypoplasia 32
            amelogenesis imperfecta 30
              Amelogenesis Imperfecta Hypomaturation Type 6
                amelogenesis imperfecta type 2A1 1
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        sensory system disease 4697
          mouth disease 680
            tooth disease 241
              Tooth Abnormalities 112
                dental enamel hypoplasia 32
                  amelogenesis imperfecta 30
                    Amelogenesis Imperfecta Hypomaturation Type 6
                      amelogenesis imperfecta type 2A1 1
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