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Disease Ontology Browser
amelogenesis imperfecta type 1B (DOID:0110052)
Alliance: disease page
Synonyms: AI1B; AIH2; amelogenesis imperfecta type IB; autosomal dominant hypoplastic local amelogenesis imperfecta; hereditary localized enamel hypoplasia
Alt IDs: OMIM:104500, ICD10CM:K00.5
Definition: An amelogenesis imperfecta that has material basis in heterozygous mutation in the enamelin gene (ENAM) on chromosome 4q13.

Disease References using Mouse Models (2)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
12/05/2017
MGI 6.11
The Jackson Laboratory