Search Ontology:
Human Disease

amelogenesis imperfecta hypomaturation type 2A2

Term ID
DOID:0110060
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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