| Metadata | |
|---|---|
| ID | DOID:0061063 |
| Name | immunodeficiency 93 |
| Definition | A primary immunodeficiency disease that is characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life and that has_material_basis_in homozygous or compound heterozygous mutation in the FNIP1 gene on chromosome 5q31. https://pubmed.ncbi.nlm.nih.gov/32181500/ |
| Xrefs | |
| Synonyms |
immunodeficiency-93 and hypertrophic cardiomyopathy [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |