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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 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
PMID:1346613 PMID:1347532 PMID:1590804 PMID:1694220 PMID:1968911 PMID:6142255 PMID:6237120 PMID:7143170 PMID:7686755 PMID:7705401 PMID:9653089 PMID:9884339 PMID:10712675 PMID:10886250 PMID:11703376 PMID:12488604 PMID:17875809 PMID:22134107 PMID:25514840 PMID:25703682 PMID:25741868 PMID:26639818 PMID:28492532 PMID:30412664, PMID:1968911, PMID:10886250, PMID:21103413, PMID:20549317, PMID:14512306 RGD:1600220, RGD:6482222, RGD:6482223, RGD:6482224, RGD:6482225 NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
JBrowse link
leukocyte adhesion deficiency 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fermt3 fermitin family member 3 ISO DNA:nonsense mutations:exon:p.R509X, p.R573X, p.W229X (human) RGD PMID:19064721 RGD:11352306 NCBI chr 1:222,254,183...222,272,775
Ensembl chr 1:222,254,184...222,272,285
JBrowse link
G Itgb2 integrin subunit beta 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1
ClinVar Annotator: match by term: Leukocyte adhesion deficiency type 1
ClinVar Annotator: match by OMIM:116920
OMIM
ClinVar
PMID:1346613 PMID:1590804 PMID:1968911 PMID:7143170 PMID:7686755 PMID:7705401 PMID:9884339 PMID:10886250 PMID:11703376 PMID:11882363 PMID:12377933 PMID:12488604 PMID:16595236 PMID:17875809 PMID:18675632 PMID:19171538 PMID:20549317 PMID:20807363 PMID:21103413 PMID:22134107 PMID:24033266 PMID:25135596 PMID:25514840 PMID:25703682 PMID:25741868 PMID:25858935 PMID:26639818 PMID:28492532 PMID:30412664 NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
JBrowse link
leukocyte adhesion deficiency 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fermt3 fermitin family member 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
PMID:12511588 PMID:18779414 PMID:19064721 PMID:19234460 PMID:19234463 PMID:20357244 PMID:21441448 PMID:22134107 PMID:22564402 PMID:25741868 PMID:28492532, PMID:19234463 RGD:11352305 NCBI chr 1:222,254,183...222,272,775
Ensembl chr 1:222,254,184...222,272,285
JBrowse link
G Rasgrp2 RAS guanyl releasing protein 2 ISS OMIM:612840 MouseDO NCBI chr 1:221,771,238...221,788,765
Ensembl chr 1:221,773,254...221,788,765
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      hematopoietic system disease 1642
        leukocyte disease 494
          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 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal recessive disease 2616
                leukocyte adhesion deficiency 3
                  leukocyte adhesion deficiency 1 2
                  leukocyte adhesion deficiency 2 0
                  leukocyte adhesion deficiency 3 2
paths to the root