immunodeficiency 80

Term ID

DOID:0061051

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. https://pubmed.ncbi.nlm.nih.gov/33712616/

References

MIM:619313

Ontology

Human Disease ( DOID:0061051 )

Relationships

is a type of: autosomal recessive disease primary immunodeficiency disease

autosomal recessive disease primary immunodeficiency disease Show first 5 Terms

Other Pages

Genes Involved

Zebrafish Models