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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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;   NCI:C27874;   ORDO:2968
For additional species annotation, visit the Alliance of Genome Resources.



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leukocyte adhesion deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb2 integrin subunit beta 2 ISO DNA:mutations:cds:p.D231H, G284S (human)
DNA:mutation:exon:p.R188X(human)
DNA:mutations:multiple
DNA:deletion, nonsense mutations:exons:1622_1657del, 2200G>T (human)
ClinVar Annotator: match by term: Leukocyte adhesion deficiency
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:9653089 PMID:1968911 PMID:10886250 PMID:21103413 PMID:20549317 More... RGD:1600220, RGD:6482222, RGD:6482223, RGD:6482224, RGD:6482225 NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
JBrowse link
leukocyte adhesion deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fermt3 FERM domain containing kindlin 3 ISO DNA:nonsense mutations:exon:p.R509X, p.R573X, p.W229X (human) RGD PMID:19064721 RGD:11352306 NCBI chr 1:204,189,483...204,207,683
Ensembl chr 1:204,189,484...204,207,587
JBrowse link
G Itgb2 integrin subunit beta 2 susceptibility ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1
DNA:polymorphisms:multiple (human)
ClinVar Annotator: match by term: Leukocyte adhesion deficiency type 1
ClinVar Annotator: match by OMIM:116920
OMIM
ClinVar
RGD
PMID:1346613 PMID:1347532 PMID:1590804 PMID:1694220 PMID:1968911 More... RGD:6482224 NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
JBrowse link
leukocyte adhesion deficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fermt3 FERM domain containing kindlin 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency, type III
DNA:nonsense mutation, splice-site mutation:exon:p.R509X (1525C>T) (human)
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:612840
OMIM
ClinVar
RGD
PMID:9536098 PMID:12511588 PMID:16199547 PMID:17576681 PMID:18779414 More... RGD:11352305 NCBI chr 1:204,189,483...204,207,683
Ensembl chr 1:204,189,484...204,207,587
JBrowse link
G Rasgrp2 RAS guanyl releasing protein 2 ISS OMIM:612840 MouseDO NCBI chr 1:203,705,777...203,722,993
Ensembl chr 1:203,707,481...203,722,993
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17427
    disease of anatomical entity 16758
      hematopoietic system disease 1968
        leukocyte disease 517
          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 17427
    Developmental Disease 11128
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9663
        genetic disease 9069
          monogenic disease 7223
            autosomal genetic disease 6350
              autosomal recessive disease 3542
                leukocyte adhesion deficiency 3
                  leukocyte adhesion deficiency 1 2
                  leukocyte adhesion deficiency 2 0
                  leukocyte adhesion deficiency 3 2
paths to the root