Metadata | |
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ID | DOID:0110064 |
Name | amelogenesis imperfecta type 1H |
Definition | An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the integrin beta-6 gene (ITGB6) on chromosome 2q24. https://www.ncbi.nlm.nih.gov/pubmed/24305999, https://www.ncbi.nlm.nih.gov/pubmed/24319098 |
Xrefs | |
Synonyms |
AI1H [EXACT] amelogenesis imperfecta type IH [EXACT] |
Parent Relationships |