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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 2A5
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Accession:DOID:0110063 term browser browse the term
Definition:An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the SLC24A4 gene on chromosome 14q32. (DO)
Synonyms:exact_synonym: AI2A5;   amelogenesis imperfecta type IIA5;   amelogenesis imperfecta, hypomaturation type, IIA5
 primary_id: OMIM:615887


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amelogenesis imperfecta hypomaturation type 2A5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc24a4 solute carrier family 24 member 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A5 OMIM
ClinVar
PMID:23375655 PMID:24621671 PMID:25741868 NCBI chrNW_004936733:515,546...639,699
Ensembl chrNW_004936733:515,510...639,705
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16378
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16321
        genetic disease 16308
          monogenic disease 9557
            autosomal genetic disease 8837
              autosomal recessive disease 6164
                amelogenesis imperfecta hypomaturation type 2A5 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14107
      nervous system disease 12321
        Neurologic Manifestations 9024
          sensory system disease 6272
            mouth disease 929
              tooth disease 407
                Tooth Abnormalities 268
                  dental enamel hypoplasia 104
                    amelogenesis imperfecta 56
                      Amelogenesis Imperfecta Hypomaturation Type 6
                        amelogenesis imperfecta hypomaturation type 2A5 1
paths to the root