primary immunodeficiency disease

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Summary

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DOID:612 - primary immunodeficiency disease

Disease Ontology Definition: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.

Synonyms: hypoimmunity, immune deficiency disorder, immunodeficiency syndrome

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ung, hnf1a, LOC588766, c3, nfkbil1, slc35c1, dclre1c, lig4, rag1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): immune system disease (is_a)