Metadata | |
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ID | DOID:0051007 |
Name | congenital nonspherocytic hemolytic anemia 8 |
Definition | A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the UMPH1 gene (NT5C3A) on chromosome 7p14. https://pubmed.ncbi.nlm.nih.gov/11369620/ |
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Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |