Atransferrinemia
Disease ID: disease_node_17556
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| Dbxref | GARD:9595, MIM:209300, NCI:C125693, ORDO:1195 |
|---|---|
| Subclassof | DOID_896, DOID_0050737 |
| Data Source | DOID |
| Synonyms | familial hypotransferrinemia |
| Doid Label | atransferrinemia |
| Doid Description | A metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the structural gene for transferrin (TF) on chromosome 3q22. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17556 |
| Doid Id | DOID_0050649 |
| Label | Atransferrinemia |
- Outgoing r'ship
SUBCLASS_OFto/from Metal Metabolism, Inborn Errors(ID:disease_node_5173) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)