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ONTOLOGY REPORT - ANNOTATIONS


Term:leukocyte adhesion deficiency 3
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Accession:DOID:0110912 term browser browse the term
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. (DO)
Synonyms:exact_synonym: IADD;   LAD1 variant;   LAD1V;   LAD3;   Leukocyte Adhesion Deficiency 1 Variant;   integrin activation deficiency disease;   leukocyte adhesion deficiency, type III
 primary_id: MESH:C567555
 alt_id: OMIA:001525;   OMIM:612840;   RDO:0015604
 xref: ORDO:99844
For additional species annotation, visit the Alliance of Genome Resources.


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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 16021
    disease of anatomical entity 15274
      hematopoietic system disease 1595
        leukocyte disease 485
          leukocyte adhesion deficiency 3
            leukocyte adhesion deficiency 3 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 3 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.