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 )

Relationships
is a type of: autosomal recessive disease primary immunodeficiency disease