amelogenesis imperfecta type 1G

Term ID

DOID:0110066

Synonyms

• AI1G
• AIGFS
• amelogenesis imperfecta and gingival fibromatosis syndrome
• amelogenesis imperfecta hypoplastic with nephrocalcinosis
• amelogenesis imperfecta type IG
• enamel-renal syndrome
• enamel-renal-gingival syndrome
• ERS

Definition

An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24. (2)

References

• ICD10CM:K00.5
• OMIM:204690
• ORDO:1031

Ontology

Human Disease   ( DOID:0110066 )