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Metadata
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/
Xrefs

MIM:266120

Parent Relationships

is_a congenital nonspherocytic hemolytic anemia

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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