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combined immunodeficiency due to DOCK8 deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0009478

Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE). [ Orphanet:217390 ]

Synonyms: combined immunodeficiency due to DOCK8 deficiency dedicator of cytokinesis 8 deficiency DOCK8 immunodeficiency syndrome Cid due to DOCK8 deficiency combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:2816 (Orphanet:217390)
  • UMLS:C4722305 (MONDO:equivalentTo)
  • NCIT:C126343 (MONDO:equivalentTo)
  • DOID:0080594 (MONDO:equivalentTo)
  • Orphanet:217390 (OMIM:243700)
  • OMIM:243700 (Orphanet:217390/e)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

exactMatch

http://purl.obolibrary.org/obo/NCIT_C126343

https://omim.org/entry/243700

http://linkedlifedata.com/resource/umls/id/C4722305

http://www.orpha.net/ORDO/Orphanet_217390

http://purl.obolibrary.org/obo/DOID_0080594

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0018814

has related synonym

hyper-IgE recurrent infection syndrome, autosomal recessive

autosomal recessive hyper IgE syndrome

AR-HIES

DOCK8 deficiency

HIES, autosomal recessive

hyper-IgE syndrome, autosomal recessive

AR hyperimmunoglobulin E syndrome

hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive

hyper Ig E syndrome, autosomal recessive

HIES autosomal recessive

id

MONDO:0009478

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0009478

https://rarediseases.info.nih.gov/diseases/2816/autosomal-recessive-hyper-ige-syndrome

Term relations

Subclass of: