OBO ID: DOID:0110060
Term Name: amelogenesis imperfecta hypomaturation type 2A2 Search Ontology:
Synonyms:
  • AI2A2
  • amelogenesis imperfecta hypomaturation type IIA2
  • amelogenesis imperfecta pigmented hypomaturation type 2
  • amelogenesis imperfecta type IIA2
Definition: An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the matrix metalloproteinase-20 gene (MMP20). https://www.ncbi.nlm.nih.gov/pubmed/15744043
References:
Ontology: Human Disease   (DOID:0110060)
OTHER amelogenesis imperfecta hypomaturation type 2A2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MMP20 Amelogenesis imperfecta, type IIA2 612529
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None