OBO ID: DOID:0110057
Term Name: amelogenesis imperfecta type 2A1 Search Ontology:
Synonyms:
  • AI2A1
  • amelogenesis imperfecta pigmented hypomaturation type 1
  • amelogenesis imperfecta type IIA1
Definition: An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the kallikrein-4 gene (KLK4) on chromosome 19q13. (2)
References:
Ontology: Human Disease   (DOID:0110057)
OTHER amelogenesis imperfecta type 2A1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KLK4 Amelogenesis imperfecta, type IIA1 204700
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None