Search Ontology:
Human Disease

amelogenesis imperfecta type 3C

Term ID
DOID:0111722
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 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models