Metadata | |
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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 | |
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 |