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 1G ID (Ontology) DOID:0110066 (Human Disease)
Definition An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24.
Also Known As "AI1G" ; "AIGFS" ; "amelogenesis imperfecta and gingival fibromatosis syndrome" (for all, see Synonyms field below)
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 Genes
 amelogenesis imperfecta type 1G       1
 for disease ribbon | amelogenesis imperfecta type 1G       1
 model of | amelogenesis imperfecta type 1G       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
dental enamel hypoplasia         |
 |__amelogenesis imperfecta______|
                                 amelogenesis imperfecta type 1G  1 rec.
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Is a autosomal recessive disease
amelogenesis imperfecta
Part of
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Synonyms
  • "AI1G" EXACT OMO:0003012
    "AIGFS" EXACT OMO:0003012
    "amelogenesis imperfecta and gingival fibromatosis syndrome" EXACT
    "amelogenesis imperfecta hypoplastic with nephrocalcinosis" EXACT
    "amelogenesis imperfecta type IG" EXACT
    "enamel-renal syndrome" EXACT
    "enamel-renal-gingival syndrome" EXACT
    "ERS" EXACT OMO:0003012
Secondary IDs
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ICD10CM:K00.5
MIM:204690
ORDO:1031