Term Name: | amelogenesis imperfecta type 1G |
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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 |
Definition: | An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24. |
Ontology: | Human Disease [DOID:0110066] ( DOID:0110066 ) |