WormMine: DiseaseOntology DOID:0060024 lambda 5 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:0050177	monogenic disease	A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
DOID:630	genetic disease	A disease that has_material_basis_in genetic variations in the human genome.
DOID:2115	B cell deficiency	A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly.
DOID:0060024	lambda 5 deficiency	A B cell deficiency that has_material_basis_in mutations in the IGLL1 gene. Lambda 5 mutations can cause a block in B cell development at the transition between the pro-B cell and the pre-B cell stage.

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