DOCK8 Deficiency

Preferred Label : DOCK8 Deficiency;

NCIt synonyms : Dedicator of Cytokinesis 8 Deficiency;

NCIt related terms : Autosomal Recessive hyper IgE syndrome;

NCIt definition : A condition of decreased or absent presence or activity of dedicator of cytokinesis protein 8. Deficiency of this protein is associated with autosomal recessive hyper-IgE recurrent infection syndrome.;

Details

Origin ID

C126343;

UMLS CUI

C4722305;

Automatic exact mappings (from CISMeF team)
- job syndrome [MeSH Descriptor]
CISMeF manual mappings
- Combined immunodeficiency due to DOCK8 deficiency [ICD-11 More detail]
Currated CISMeF NLP mapping
- Combined immunodeficiency due to DOCK8 deficiency [ORDO Disease]
- DOCK8 immunodeficiency syndrome [Disease (Nov.)]
- Hyper-Immunoglobulin E syndrome, autosomal recessive [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive hyperimmunoglobulin E syndrome [ICD-11 More detail]
- Combined immunodeficiency due to DOCK8 deficiency [ICD-11 More detail]
- Combined immunodeficiency due to DOCK8 deficiency [ORDO Disease]
- DOCK8 immunodeficiency syndrome [Disease (Nov.)]
- Hyper-Immunoglobulin E syndrome, autosomal recessive [MeSH concept]
- Hyper-ige syndrome 2, autosomal recessive, with recurrent infections [OMIM Phenotype]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
related_to_genetic_biomarker
- DOCK8 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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