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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
leukocyte adhesion deficiency 1  
leukocyte adhesion deficiency 2 
leukocyte adhesion deficiency 3  
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. (DO)

Synonyms
Exact Synonyms: IADD ;   LAD1 variant ;   LAD1V ;   LAD3 ;   integrin activation deficiency disease ;   leukocyte adhesion deficiency 1 variant ;   leukocyte adhesion deficiency, type III
Primary IDs: MESH:C567555
Alternate IDs: OMIA:001525 ;   OMIM:612840
Xrefs: ORDO:99844
Definition Sources: https://www.ncbi.nlm.nih.gov/books/NBK539770/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/19234463 "DO" "DO", https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99844 "DO" "DO"

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