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Metadata
ID DOID:0061066
PURL http://purl.obolibrary.org/obo/DOID_0061066 Copy
Name immunodeficiency 96
Definition A primary immunodeficiency disease that is characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the LIG1 gene on chromosome 19q13.
https://pubmed.ncbi.nlm.nih.gov/30395541/
Xrefs

MIM:619774

Parent Relationships

is_a primary immunodeficiency disease

is_a autosomal recessive disease

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