OBO ID: DOID:0110063
Term Name: amelogenesis imperfecta hypomaturation type 2A5 Search Ontology:
Synonyms:
  • AI2A5
  • amelogenesis imperfecta hypomaturation type IIA5
  • amelogenesis imperfecta type IIA5
Definition: An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the SLC24A4 gene on chromosome 14q32. https://www.ncbi.nlm.nih.gov/pubmed/23375655
References:
Ontology: Human Disease   (DOID:0110063)
OTHER amelogenesis imperfecta hypomaturation type 2A5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC24A4 Amelogenesis imperfecta, type IIA5 615887
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None