| Term Name: | immunodeficiency 80 |
|---|---|
| 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 ) |