| Metadata | |
|---|---|
| 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 | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |