FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term amelogenesis imperfecta type 1E ID (Ontology) DOID:0110058 (Human Disease)
Definition An amelogenesis imperfecta that has_material_basis_in X-linked dominant mutation in the gene encoding amelogenin (AMELX).
Also Known As "AIH1" ; "amelogenesis imperfecta hypomaturationtype with snow-capped teeth" ; "amelogenesis imperfecta type IE" (for all, see Synonyms field below)
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X-linked monogenic disease
 |__X-linked dominant disease__
dental enamel hypoplasia       |
 |__amelogenesis imperfecta____|
                               amelogenesis imperfecta type 1E
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Is a X-linked dominant disease
amelogenesis imperfecta
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Synonyms
  • "AIH1" EXACT OMO:0003012
    "amelogenesis imperfecta hypomaturationtype with snow-capped teeth" EXACT
    "amelogenesis imperfecta type IE" EXACT
    "X-linked amelogenesis imperfecta 1" EXACT
    "X-linked amelogenesis imperfecta hypoplastic/hypomaturation 1" EXACT
    "X-linked enamel hypoplasia" RELATED
Secondary IDs
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ICD10CM:K00.5
MIM:301200