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ONTOLOGY REPORT - ANNOTATIONS


Term:leukocyte adhesion deficiency
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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
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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
G Kit KIT proto-oncogene receptor tyrosine kinase JBrowse link 14 35,072,131 35,149,638 RGD:8554872
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 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
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  disease 14759
    syndrome 4210
      primary immunodeficiency disease 926
        leukocyte adhesion deficiency 5
          leukocyte adhesion deficiency 1 4
          leukocyte adhesion deficiency 2 0
          leukocyte adhesion deficiency 3 2
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          monogenic disease 2854
            autosomal genetic disease 2132
              autosomal recessive disease 1250
                leukocyte adhesion deficiency 5
                  leukocyte adhesion deficiency 1 4
                  leukocyte adhesion deficiency 2 0
                  leukocyte adhesion deficiency 3 2
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