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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 1J
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Accession:DOID:0080953 term browser browse the term
Definition:An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ACPT on chromosome 19q13. (DO)
Synonyms:exact_synonym: AI1J;   Amelogenesis Imperfecta Type IJ
 primary_id: OMIM:617297
 alt_id: DOID:9002499
 xref: EFO:0009302


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amelogenesis imperfecta type 1J term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp4 acid phosphatase 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1J
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:27843125 PMID:28513613 NCBI chr 1:94,736,376...94,751,871
Ensembl chr 1:94,735,514...94,744,623 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Stomatognathic Diseases 1348
      tooth disease 446
        teeth hard tissue disease 119
          dental enamel hypoplasia 110
            amelogenesis imperfecta 58
              amelogenesis imperfecta type 1J 1
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13343
      Signs and Symptoms 10819
        Neurologic Manifestations 10053
          sensory system disease 6962
            mouth disease 1019
              tooth disease 446
                Tooth Abnormalities 284
                  dental enamel hypoplasia 110
                    amelogenesis imperfecta 58
                      amelogenesis imperfecta type 1J 1
paths to the root