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ONTOLOGY REPORT - ANNOTATIONS


Term:leukocyte adhesion deficiency 1
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Accession:DOID:0110910 term browser browse the term
Definition:A leukocyte adhesion deficiency that has_material_basis_in mutation of the ITGB2 gene on chromosome 21q22.3. (DO)
Synonyms:exact_synonym: LAD;   LAD1;   Leukocyte Adhesion Deficiency Type 1;   Leukocyte Adhesion Deficiency, Type I;   Lfa1 Immunodeficiency;   Lymphocyte function-associated antigen 1 immunodeficiency
 primary_id: MESH:C535887;   RDO:0001243
 alt_id: OMIA:000595;   OMIM:116920
 xref: ORDO:99842
For additional species annotation, visit the Alliance of Genome Resources.


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leukocyte adhesion deficiency 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fermt3 fermitin family member 3 JBrowse link 1 222,254,183 222,272,775 RGD:11352306
G Itgb2 integrin subunit beta 2 JBrowse link 20 11,777,773 11,815,647 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      hematopoietic system disease 1595
        leukocyte disease 485
          leukocyte adhesion deficiency 3
            leukocyte adhesion deficiency 1 2
Path 2
Term Annotations click to browse term
  disease 16021
    Developmental Diseases 9337
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8165
        genetic disease 7689
          monogenic disease 5447
            autosomal genetic disease 4411
              autosomal recessive disease 2386
                leukocyte adhesion deficiency 3
                  leukocyte adhesion deficiency 1 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.