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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 1F
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Accession:DOID:0110065 term browser browse the term
Definition:An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ameloblastin gene (AMBN) on chromosome 4q13. (DO)
Synonyms:exact_synonym: AI1F;   AMBN-RELATED CONDITION;   amelogenesis imperfecta type IF;   amelogenesis imperfecta, hypoplastic type 1F;   amelogenesis imperfecta, hypoplastic type IF
 primary_id: MIM:616270
 xref: MONDO:0014560


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amelogenesis imperfecta type 1F term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ambn ameloblastin ISO ClinVar Annotator: match by term: AMBN-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1F OMIM
ClinVar		 PMID:24858907 PMID:25741868 PMID:26502894 PMID:28492532 NCBI chr14:19,601,761...19,614,382
Ensembl chr14:19,885,743...19,898,433 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Stomatognathic Diseases 1375
      tooth disease 468
        teeth hard tissue disease 121
          dental enamel hypoplasia 110
            amelogenesis imperfecta 58
              amelogenesis imperfecta type 1F 1
Path 2
Term Annotations click to browse term
  disease 19167
    Pathological Conditions, Signs and Symptoms 13667
      Signs and Symptoms 11198
        Neurologic Manifestations 10446
          sensory system disease 7348
            mouth disease 1044
              tooth disease 468
                Tooth Abnormalities 301
                  dental enamel hypoplasia 110
                    amelogenesis imperfecta 58
                      amelogenesis imperfecta type 1F 1
paths to the root