OBO ID: DOID:0080960
Term Name: amelogenesis imperfecta type 2A6 Search Ontology:
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)
OTHER amelogenesis imperfecta type 2A6 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GPR68 Amelogenesis imperfecta, hypomaturation type, IIA6 617217
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None