Amelogenesis Imperfecta Type 1B
Disease ID: disease_node_18108
Connections displayed (default: 10).
Loading graph...
| Dbxref | ICD10CM:K00.5, MIM:104500 |
|---|---|
| Subclassof | DOID_0050736, DOID_2187 |
| Data Source | DOID |
| Synonyms | AI1B, AIH2, amelogenesis imperfecta type IB, autosomal dominant hypoplastic local amelogenesis imperfecta, hereditary localized enamel hypoplasia |
| Doid Label | amelogenesis imperfecta type 1B |
| Doid Description | An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the enamelin gene (ENAM) on chromosome 4q13. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_18108 |
| Doid Id | DOID_0110052 |
| Label | Amelogenesis Imperfecta Type 1B |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Amelogenesis Imperfecta(ID:disease_node_1139) (Disease)