amelogenesis imperfecta type 1C

Term ID

DOID:0110056

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

• ICD10CM:K00.5
• OMIM:204650

Ontology

Human Disease   ( DOID:0110056 )