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
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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 14875
    Stomatognathic Diseases 847
      tooth disease 224
        teeth hard tissue disease 36
          dental enamel hypoplasia 30
            amelogenesis imperfecta 28
              Amelogenesis Imperfecta Hypomaturation Type 6
                amelogenesis imperfecta type 2A1 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          mouth disease 660
            tooth disease 224
              Tooth Abnormalities 103
                dental enamel hypoplasia 30
                  amelogenesis imperfecta 28
                    Amelogenesis Imperfecta Hypomaturation Type 6
                      amelogenesis imperfecta type 2A1 1
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