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Disease Ontology Browser
amelogenesis imperfecta type 2A6 (DOID:0080960)
Alliance: disease page
Synonyms: Amelogenesis imperfecta, hypomaturation type, IIA6
Alt IDs: OMIM:617217
Definition: An amelogenesis imperfecta that is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance and that has_material_basis_in homozygous mutation in the G protein-coupled receptor-68 (GPR68) on chromosome 14q32.

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
12/10/2024
MGI 6.24 		The Jackson Laboratory