Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Disease ID: disease_node_15247
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| Dbxref | MIM:616084 |
|---|---|
| Subclassof | DOID_0050737, DOID_8955 |
| Data Source | DOID |
| Synonyms | SIFD |
| Doid Label | sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay |
| Doid Description | A sideroblastic anemia characterized by onset of severe sideroblastic anemia in the neonatal period or infancy, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TRNT1 gene on chromosome 3p26. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15247 |
| Doid Id | DOID_0080209 |
| Label | Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Anemia, Sideroblastic(ID:disease_node_1208) (Disease)