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Human Disease

amelogenesis imperfecta type 2A6

Term ID
DOID:0080960
Synonyms
  • Amelogenesis imperfecta, hypomaturation type, IIA6
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/
References
Ontology
Human Disease   ( DOID:0080960 )
Relationships
is a type of
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Genes Involved
Zebrafish Models