| Metadata | |
|---|---|
| ID | DOID:0061051 |
| Name | immunodeficiency 80 |
| 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. https://pubmed.ncbi.nlm.nih.gov/33712616/ |
| Xrefs | |
| Synonyms |
immunodeficiency 80 with or without cautosomal recessive inheritancediomyopathy [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |