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 )
Relationships
is a type of:
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
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.