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Disease Ontology Browser
amelogenesis imperfecta type 3C (DOID:0111722)
Alliance: disease page
Synonyms: AI3C; amelogenesis imperfecta type IIIC; autosomal recessive amelogenesis imperfecta hypocalcification type
Alt IDs: OMIM:618386
Definition: An amelogenesis imperfecta type 3 that is characterized by hypocalcified enamel in both the primary and secondary dentition and that has_material_basis_in homozygous mutation in the RELT gene on chromosome 11q13.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/05/2024
MGI 6.24 		The Jackson Laboratory