Metadata | |
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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 | |
Subsets |
DO_rare_slim |
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 |