| 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/24196488, https://www.ncbi.nlm.nih.gov/pubmed/23468644 |
| 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 | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |