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 1C ID (Ontology) DOID:0110056 (Human Disease)
Definition An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the enamelin gene (ENAM).
Also Known As "AI1C" ; "amelogenesis imperfecta type IC" ; "autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion" (for all, see Synonyms field below)
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Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
dental enamel hypoplasia         |
 |__amelogenesis imperfecta______|
                                 amelogenesis imperfecta type 1C
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Is a autosomal recessive disease
amelogenesis imperfecta
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Synonyms
  • "AI1C" EXACT OMO:0003012
    "amelogenesis imperfecta type IC" EXACT
    "autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion" EXACT
    "autosomal recessive amelogenesis imperfecta local hypoplastic type" EXACT
Secondary IDs
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ICD10CM:K00.5
MIM:204650