FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 ID (Ontology) DOID:0110059 (Human Disease)
Definition An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region.
Also Known As "AIH3" ; "amelogenesis imperfecta 3 hypoplastic type" ; "amelogenesis imperfecta type IE X-linked 2"
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Spanning Tree (Parents/Children)
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  dental enamel hypoplasia
   |__amelogenesis imperfecta
       |__X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2
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Is a amelogenesis imperfecta
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Synonyms
  • "AIH3" EXACT OMO:0003012
    "amelogenesis imperfecta 3 hypoplastic type" EXACT
    "amelogenesis imperfecta type IE X-linked 2" EXACT
    "X-linked enamel hypoplasia" RELATED
Secondary IDs
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ICD10CM:K00.5
MIM:301201