Send us a Message



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

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:AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED
go back to main search page
Accession:DOID:9006328 term browser browse the term
Definition:This disease is an X-linked recessive disorder with onset of symptoms in infancy or early childhood. Affected individuals present with highly variable symptoms. Laboratory studies are consistent with immune dysregulation, including altered B-cell subsets and variably elevated proinflammatory cytokines. Detailed functional studies of platelets, red cells, and T lymphocytes suggest that abnormal actin cytoskeleton remodeling is a basic defect, indicating that this disorder can be classified as an immune-related actinopathy.
Synonyms:exact_synonym: ADMIDX;   DOCK11 DEFICIENCY;   INBORN ERROR OF HEMATOPOIESIS AND IMMUNITY WITH SYSTEMIC INFLAMMATION AND NORMOCYTIC ANEMIA;   X-linked multisystem autoinflammatory disease with immune dysregulation
 primary_id: OMIM:301109



show annotations for term's descendants           Sort by:
AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dock11 dedicator of cytokinesis 11 ISO ClinVar Annotator: match by term: DOCK11 deficiency | ClinVar Annotator: match by term: Inborn error of hematopoiesis and immunity with systemic inflammation and normocytic anemia OMIM
ClinVar
PMID:25741868 PMID:36952639 PMID:37342957 NCBI chr  X:115,131,720...115,314,854
Ensembl chr  X:115,131,909...115,314,854
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      primary immunodeficiency disease 4144
        AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED 1
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13332
      Signs and Symptoms 10808
        Neurologic Manifestations 10040
          sensory system disease 6939
            skin disease 3960
              Genetic Skin Diseases 1850
                Hereditary Autoinflammatory Diseases 344
                  AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED 1
paths to the root