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



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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 OMIM
ClinVar
PMID:27843125 PMID:28513613 NCBI chr 1:94,736,376...94,751,871
Ensembl chr 1:94,735,514...94,744,623
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    Stomatognathic Diseases 1190
      tooth disease 316
        teeth hard tissue disease 72
          dental enamel hypoplasia 64
            amelogenesis imperfecta 55
              amelogenesis imperfecta type 1J 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        sensory system disease 6410
          mouth disease 867
            tooth disease 316
              Tooth Abnormalities 174
                dental enamel hypoplasia 64
                  amelogenesis imperfecta 55
                    amelogenesis imperfecta type 1J 1
paths to the root