Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:leukocyte adhesion deficiency
go back to main search page
Accession:DOID:6612 term browser browse the term
Definition:Rare, autosomal recessive disorder caused by deficiency of the beta 2 integrin receptors (RECEPTORS, LEUKOCYTE-ADHESION) comprising the CD11/CD18 family of glycoproteins. The syndrome is characterized by abnormal adhesion-dependent functions, especially defective tissue emigration of neutrophils, leading to recurrent infection.
Synonyms:exact_synonym: Congenital leukocyte adherence deficiency;   Leukocyte-Adhesion Deficiency Syndrome;   Leukocyte-Adhesion Deficiency Syndromes
 primary_id: MESH:D018370
 alt_id: RDO:0001244
 xref: GARD:9544;   ORDO:2968
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
leukocyte adhesion deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itgb2 integrin subunit beta 2 JBrowse link 20 11,777,773 11,815,647 RGD:1600220
RGD:6482222
RGD:6482223
RGD:6482224
RGD:6482225
RGD:8554872
RGD:11554173
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
leukocyte adhesion deficiency 3 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:7240710
RGD:8554872
RGD:11352305
G Rasgrp2 RAS guanyl releasing protein 2 JBrowse link 1 221,771,238 221,788,765 RGD:13592920

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      hematopoietic system disease 1451
        leukocyte disease 443
          leukocyte adhesion deficiency 3
            leukocyte adhesion deficiency 1 2
            leukocyte adhesion deficiency 2 0
            leukocyte adhesion deficiency 3 2
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                leukocyte adhesion deficiency 3
                  leukocyte adhesion deficiency 1 2
                  leukocyte adhesion deficiency 2 0
                  leukocyte adhesion deficiency 3 2
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.