| Metadata | |
|---|---|
| ID | DOID:0050649 |
| Name | atransferrinemia |
| Definition | 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. https://en.wikipedia.org/wiki/Atransferrinemia, https://www.ncbi.nlm.nih.gov/pubmed/29969719, https://www.omim.org/entry/209300 |
| Xrefs | |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
familial hypotransferrinemia [EXACT] |
| Parent Relationships |