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DO Term : leukocyte adhesion deficiency 3 [DOID:0110912] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A leukocyte adhesion deficiency that is characterized by a defect in beta integrins 1, 2, and 3; which impairs the integrin activation cascade and has_material_basis_in mutation in FERMT3 gene on chromosome 11q12.

synonyms:
LAD1 variant,
integrin activation deficiency disease,
LAD3,
IADD,
leukocyte adhesion deficiency type III,
OMIM:612840,
leukocyte adhesion deficiency 1 variant,
ORDO:99844,
612840,
LAD1V

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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