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Disease Ontology Browser
amelogenesis imperfecta type 1C (DOID:0110056)
Alliance: disease page
Synonyms: AI1C; amelogenesis imperfecta type IC; autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion; autosomal recessive amelogenesis imperfecta local hypoplastic type
Alt IDs: OMIM:204650, ICD10CM:K00.5
Definition: An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the enamelin gene (ENAM).

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