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Disease Ontology Browser
amelogenesis imperfecta type 1G (DOID:0110066)
Alliance: disease page
Synonyms: AI1G; AIGFS; amelogenesis imperfecta and gingival fibromatosis syndrome; amelogenesis imperfecta hypoplastic with nephrocalcinosis; amelogenesis imperfecta type IG; enamel-renal syndrome; enamel-renal-gingival syndrome; ERS
Alt IDs: OMIM:204690, ICD10CM:K00.5, ORDO:1031
Definition: An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24.

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
11/12/2024
MGI 6.24 		The Jackson Laboratory