Term Name: | immunodeficiency 80 |
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Synonyms: | immunodeficiency 80 with or without cautosomal recessive inheritancediomyopathy |
Definition: | A primary immunodeficiency disease that is characterized by variable manifestations and that has_material_basis_in compound heterozygous mutation in the MCM10 gene on chromosome 10p13. |
Ontology: | Human Disease [DOID:0061051] ( DOID:0061051 ) |