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 3C ID (Ontology) DOID:0111722 (Human Disease)
Definition An amelogenesis imperfecta type 3 that is characterized by hypocalcified enamel in both the primary and secondary dentition and that has_material_basis_in homozygous mutation in the RELT gene on chromosome 11q13.
Also Known As "AI3C" ; "amelogenesis imperfecta type IIIC" ; "autosomal recessive amelogenesis imperfecta hypocalcification type"
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autosomal genetic disease
 |__autosomal recessive disease_____
amelogenesis imperfecta             |
 |__amelogenesis imperfecta type 3__|
                                    amelogenesis imperfecta type 3C
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Is a autosomal recessive disease
amelogenesis imperfecta type 3
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Synonyms
  • "AI3C" EXACT OMO:0003012
    "amelogenesis imperfecta type IIIC" EXACT
    "autosomal recessive amelogenesis imperfecta hypocalcification type" EXACT
Secondary IDs
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MIM:618386