Amelogenesis Imperfecta Type 2A1
Disease ID: disease_node_18104
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| Dbxref | GARD:9495, ICD10CM:K00.5, MIM:204700 |
|---|---|
| Subclassof | DOID_0050737, DOID_2187 |
| Data Source | DOID |
| Synonyms | AI2A1, amelogenesis imperfecta pigmented hypomaturation type 1, amelogenesis imperfecta type IIA1 |
| Doid Label | amelogenesis imperfecta type 2A1 |
| Doid Description | An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the kallikrein-4 gene (KLK4) on chromosome 19q13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18104 |
| Doid Id | DOID_0110057 |
| Label | Amelogenesis Imperfecta Type 2A1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Amelogenesis Imperfecta(ID:disease_node_1139) (Disease)