immunodeficiency 93

Term ID

DOID:0061063

Synonyms

immunodeficiency-93 and hypertrophic cardiomyopathy

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/

References

MIM:619705

Ontology

Human Disease ( DOID:0061063 )

Relationships

is a type of: autosomal recessive disease primary immunodeficiency disease

autosomal recessive disease primary immunodeficiency disease Show first 5 Terms

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Genes Involved

Zebrafish Models