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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
For additional species annotation, visit the Alliance of Genome Resources.

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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 ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type IIA4 OMIM
ClinVar		 PMID:22901946 NCBI chr14:17,575,295...17,583,214
Ensembl chr14:17,575,758...17,582,823 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Stomatognathic Diseases 1001
      tooth disease 284
        teeth hard tissue disease 63
          dental enamel hypoplasia 55
            amelogenesis imperfecta 52
              Amelogenesis Imperfecta Hypomaturation Type 6
                amelogenesis imperfecta hypomaturation type 2A4 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        sensory system disease 5285
          mouth disease 771
            tooth disease 284
              Tooth Abnormalities 150
                dental enamel hypoplasia 55
                  amelogenesis imperfecta 52
                    Amelogenesis Imperfecta Hypomaturation Type 6
                      amelogenesis imperfecta hypomaturation type 2A4 1
paths to the root