OBO ID: DOID:0111722
Term Name: amelogenesis imperfecta type 3C Search Ontology:
Synonyms:
  • AI3C
  • amelogenesis imperfecta type IIIC
  • autosomal recessive amelogenesis imperfecta hypocalcification type
Definition: An amelogenesis imperfecta type 3 that is characterized by hypocalcified enamel in both the primary and secondary dentition and that has_material_basis_in homozygous mutation in the RELT gene on chromosome 11q13. https://www.ncbi.nlm.nih.gov/pubmed/30506946
References:
Ontology: Human Disease   (DOID:0111722)
OTHER amelogenesis imperfecta type 3C PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RELT Amelogenesis imperfecta, type IIIC 618386
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None