Amelogenesis Imperfecta Type 2A6
Disease ID: disease_node_18115
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| Dbxref | MIM:617217 |
|---|---|
| Subclassof | DOID_0050737, DOID_2187 |
| Data Source | DOID |
| Synonyms | Amelogenesis imperfecta, hypomaturation type, IIA6 |
| Doid Label | amelogenesis imperfecta type 2A6 |
| Doid Description | An amelogenesis imperfecta that is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance and that has_material_basis_in homozygous mutation in the G protein-coupled receptor-68 (GPR68) on chromosome 14q32. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18115 |
| Doid Id | DOID_0080960 |
| Label | Amelogenesis Imperfecta Type 2A6 |
- 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)