WormMine: DiseaseOntology DOID:0060008 janus kinase-3 deficiency Disease Ontology

Name
Disease Ontology

Identifier	Name	Description
DOID:7	disease of anatomical entity	A disease that manifests in a defined anatomical structure.
DOID:4	disease	A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:2914	immune system disease	A disease of anatomical entity that is located_in the immune system.
DOID:612	primary immunodeficiency disease	An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.
DOID:627	severe combined immunodeficiency	A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems.
DOID:0111962	combined immunodeficiency	A primary immunodeficiency disease that involves multiple components of the immune system.
DOID:0060008	janus kinase-3 deficiency	A severe combined immunodeficiency that is characterized by severe cell-mediated and antibody-mediated immunodeficiency with recurrent bacterial, viral, and fungal infections, develops_from janus kinase-3 deficiency, and has_material_basis_in autosomal recessive inheritance of mutation in the JAK3 gene of chromosome 19p13.11, responsible for normal differentiation and maturation of B and T immune cells.

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