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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 4
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Accession:DOID:0110053 term browser browse the term
Definition:An amelogenesis imperfecta which can has_material_basis_in mutation in the DLX3 gene. (DO)
Synonyms:exact_synonym: AI4;   AIHHT;   Amelogenesis Imperfecta, Hypomaturation-Hypoplastic Type, with Taurodontism;   amelogenesis imperfecta type IV
 primary_id: MESH:C566293
 alt_id: MIM:104510;   RDO:0014687


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amelogenesis imperfecta type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type IV
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:28492532 NCBI chr11:95,010,943...95,016,122
Ensembl chr11:95,010,945...95,016,122 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16234
    Stomatognathic Diseases 1357
      tooth disease 462
        teeth hard tissue disease 116
          dental enamel hypoplasia 105
            amelogenesis imperfecta 57
              amelogenesis imperfecta type 4 1
Path 2
Term Annotations click to browse term
  disease 16234
    Pathological Conditions, Signs and Symptoms 12645
      Signs and Symptoms 10527
        Neurologic Manifestations 10183
          sensory system disease 7146
            mouth disease 1029
              tooth disease 462
                Tooth Abnormalities 297
                  dental enamel hypoplasia 105
                    amelogenesis imperfecta 57
                      amelogenesis imperfecta type 4 1
paths to the root