FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term amelogenesis imperfecta type 1K ID (Ontology) DOID:0060945 (Human Disease)
Definition An amelogenesis imperfecta characterized by hypoplastic enamel of all teeth that has_material_basis_in heterozygous mutation in the SP6 gene on chromosome 17q21.
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 amelogenesis imperfecta type 1K       2
 for disease ribbon | amelogenesis imperfecta type 1K       2
 model of | amelogenesis imperfecta type 1K       2
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  dental enamel hypoplasia
   |__amelogenesis imperfecta
       |__amelogenesis imperfecta type 1K  2 rec.
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GARD:5791
MIM:620104
ORDO:88661