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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

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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15949
        genetic disease 15939
          monogenic disease 9439
            autosomal genetic disease 8757
              autosomal recessive disease 6141
                amelogenesis imperfecta type 2A1 0
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        Neurologic Manifestations 8844
          sensory system disease 6162
            mouth disease 922
              tooth disease 405
                Tooth Abnormalities 268
                  dental enamel hypoplasia 104
                    amelogenesis imperfecta 56
                      Amelogenesis Imperfecta Hypomaturation Type 5
                        amelogenesis imperfecta type 2A1 0
paths to the root