Search Ontology:
Human Disease

amelogenesis imperfecta type 1B

Term ID
DOID:0110052
Synonyms
  • AI1B
  • AIH2
  • amelogenesis imperfecta type IB
  • autosomal dominant hypoplastic local amelogenesis imperfecta
  • hereditary localized enamel hypoplasia
Definition
An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the enamelin gene (ENAM) on chromosome 4q13. https://www.ncbi.nlm.nih.gov/pubmed/11487571
References
Ontology
Human Disease   ( DOID:0110052 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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