Amelogenesis Imperfecta Type 3C
Disease ID: disease_node_18098
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| Dbxref | MIM:618386 |
|---|---|
| Subclassof | DOID_0111721, DOID_0050737 |
| Data Source | DOID |
| Synonyms | AI3C, amelogenesis imperfecta type IIIC, autosomal recessive amelogenesis imperfecta hypocalcification type |
| Doid Label | amelogenesis imperfecta type 3C |
| Doid Description | An amelogenesis imperfecta type 3 that is characterized by hypocalcified enamel in both the primary and secondary dentition and that has_material_basis_in homozygous mutation in the RELT gene on chromosome 11q13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18098 |
| Doid Id | DOID_0111722 |
| Label | Amelogenesis Imperfecta Type 3C |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)