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Metadata
ID DOID:0110912
Name leukocyte adhesion deficiency 3
Definition 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.
https://www.ncbi.nlm.nih.gov/books/NBK539770/, https://www.ncbi.nlm.nih.gov/pubmed/19234463, https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99844
Xrefs

OMIM:612840

ORDO:99844

Synonyms

IADD [EXACT]

integrin activation deficiency disease [EXACT]

LAD1 variant [EXACT]

LAD1V [EXACT]

LAD3 [EXACT]

leukocyte adhesion deficiency 1 variant [EXACT]

leukocyte adhesion deficiency type III [EXACT]

Parent Relationships

is_a leukocyte adhesion deficiency

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