Amelogenesis Imperfecta Type 1H
Disease ID: disease_node_18111
Connections displayed (default: 10).
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| Dbxref | ICD10CM:K00.5, MIM:616221 |
|---|---|
| Subclassof | DOID_0050737, DOID_2187 |
| Data Source | DOID |
| Synonyms | AI1H, amelogenesis imperfecta type IH |
| Doid Label | amelogenesis imperfecta type 1H |
| Doid Description | An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the integrin beta-6 gene (ITGB6) on chromosome 2q24. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18111 |
| Doid Id | DOID_0110064 |
| Label | Amelogenesis Imperfecta Type 1H |
- 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)