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Disease Ontology Browser
amelogenesis imperfecta type 3A (DOID:0110055)
Alliance: disease page
Synonyms: ADHCAI; amelogenesis imperfecta hypomineralization type; amelogenesis imperfecta type III; autosomal dominant amelogenesis imperfecta hypocalcification type
Alt IDs: OMIM:130900, ICD10CM:K00.5
Definition: An amelogenesis imperfecta type 3 that has_material_basis_in heterozygous mutation in the FAM83H gene on chromosome 8q24.

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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Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory