OBO ID: DOID:0110056
Term Name: amelogenesis imperfecta type 1C Search Ontology:
Synonyms:
  • AI1C
  • amelogenesis imperfecta type IC
  • autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion
  • autosomal recessive amelogenesis imperfecta local hypoplastic type
Definition: An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the enamelin gene (ENAM). https://www.ncbi.nlm.nih.gov/pubmed/14684688
References:
Ontology: Human Disease   (DOID:0110056)
OTHER amelogenesis imperfecta type 1C PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ENAM Amelogenesis imperfecta, type IC 204650
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None