Metadata | |
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ID | DOID:0080960 |
Name | amelogenesis imperfecta type 2A6 |
Definition | An amelogenesis imperfecta that is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance and that has_material_basis_in homozygous mutation in the G protein-coupled receptor-68 (GPR68) on chromosome 14q32. https://pubmed.ncbi.nlm.nih.gov/3150442/ |
Xrefs | |
Synonyms |
Amelogenesis imperfecta, hypomaturation type, IIA6 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |