Amelogenesis Imperfecta Hypomaturation Type 2A2
Disease ID: disease_node_18101
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| Dbxref | ICD10CM:K00.5, MIM:612529 |
|---|---|
| Subclassof | DOID_0050737, DOID_2187 |
| Data Source | DOID |
| Synonyms | AI2A2, amelogenesis imperfecta hypomaturation type IIA2, amelogenesis imperfecta pigmented hypomaturation type 2, amelogenesis imperfecta type IIA2 |
| Doid Label | amelogenesis imperfecta hypomaturation type 2A2 |
| Doid Description | An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the matrix metalloproteinase-20 gene (MMP20). |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18101 |
| Doid Id | DOID_0110060 |
| Label | Amelogenesis Imperfecta Hypomaturation Type 2A2 |
- Outgoing r'ship
SUBCLASS_OFto/from Amelogenesis Imperfecta(ID:disease_node_1139) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)