Amelogenesis Imperfecta Hypomaturation Type 2A4
Disease ID: disease_node_18113
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| Dbxref | ICD10CM:K00.5, MIM:614832 |
|---|---|
| Subclassof | DOID_0050737, DOID_2187 |
| Data Source | DOID |
| Synonyms | AI2A4, amelogenesis imperfecta hypomaturation type IIA4, amelogenesis imperfecta type IIA4 |
| Doid Label | amelogenesis imperfecta hypomaturation type 2A4 |
| Doid Description | An amelogenesis imperfecta caused by homozygous mutation in the C4ORF26 gene on chromosome 4q21. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18113 |
| Doid Id | DOID_0110062 |
| Label | Amelogenesis Imperfecta Hypomaturation Type 2A4 |
- 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)