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Metadata
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

MIM:617217

Synonyms

Amelogenesis imperfecta, hypomaturation type, IIA6 [EXACT]

Parent Relationships

is_a amelogenesis imperfecta

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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