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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 2A4
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Accession:DOID:0110062 term browser browse the term
Definition:An amelogenesis imperfecta caused by homozygous mutation in the C4ORF26 gene on chromosome 4q21. (DO)
Synonyms:exact_synonym: AI2A4;   amelogenesis imperfecta type IIA4;   amelogenesis imperfecta, hypomaturation type IIA4
 primary_id: OMIM:614832
 alt_id: RDO:9000167


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amelogenesis imperfecta hypomaturation type 2A4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Odaph odontogenesis associated phosphoprotein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A4 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA4		 OMIM
CTD
ClinVar		 PMID:22901946 PMID:25741868 NCBI chr14:16,071,835...16,080,151
Ensembl chr14:16,073,058...16,080,129 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal recessive disease 6583
                amelogenesis imperfecta hypomaturation type 2A4 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sensory system disease 6940
            mouth disease 1012
              tooth disease 443
                Tooth Abnormalities 282
                  dental enamel hypoplasia 110
                    amelogenesis imperfecta 58
                      Amelogenesis Imperfecta Hypomaturation Type 6
                        amelogenesis imperfecta hypomaturation type 2A4 1
paths to the root