Immunodeficiency 40

Preferred Label : Immunodeficiency 40;

Symbol : IMD40;

CISMeF acronym : IMD40;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dedicator of cytokinesis 2 gene (DOCK2, 603122.0001);

Prefixed ID : #616433;

Details

Origin ID

616433;

UMLS CUI

C4225328;

Automatic exact mappings (from CISMeF team)
- DOCK2 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- DOCK2 deficiency [ORDO Disease]
- DOCK2-Associated Immunodeficiency [NCIt concept]
- Dedicator of cytokinesis 2 deficiency (disorder) [SNOMED CT concept]
- immunodeficiency 40 [DO Concept]
DO Cross reference
- immunodeficiency 40 [DO Concept]
Genes related to phenotype
- Dedicator of cytokinesis 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Immunodeficiency [HPO term]
- Lymphopenia [HPO term]
ORDO concept(s)
- DOCK2 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- DOCK2-Associated Immunodeficiency [NCIt concept]
- Dedicator of cytokinesis 2 deficiency (disorder) [SNOMED CT concept]
- immunodeficiency 40 [DO Concept]

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