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.
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