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Metadata
ID DOID:0110066
Name amelogenesis imperfecta type 1G
Definition An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24.
https://www.ncbi.nlm.nih.gov/pubmed/23468644, https://www.ncbi.nlm.nih.gov/pubmed/24196488
Xrefs

ICD10CM:K00.5

MIM:204690

ORDO:1031

Subsets

DO_rare_slim

Synonyms

AI1G [EXACT]

AIGFS [EXACT]

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]

Parent Relationships

is_a amelogenesis imperfecta

is_a autosomal recessive disease

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