Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis

Preferred Label : Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis;

Symbol : IMD73A;

CISMeF acronym : IMD73A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Neutrophil immunodeficiency syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the Rac family small GTPase 2 gene (602049.0001);

Prefixed ID : #608203;

Details

Origin ID

608203;

UMLS CUI

C1842398;

Automatic exact mappings (from CISMeF team)
- RAC2 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Neutrophil immunodeficiency syndrome [ICD-11 Sub-sub category]
- Neutrophil immunodeficiency syndrome [ORDO Disease]
- Neutrophil immunodeficiency syndrome (disorder) [SNOMED CT concept]
- neutrophil immunodeficiency syndrome [MeSH concept]
- neutrophil immunodeficiency syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Ras-related c3 botulinum toxin substrate 2 [OMIM gene]
HPO term(s)
- Abnormally low T cell receptor excision circle level [HPO term]
- Autosomal dominant inheritance [HPO term]
- Delayed umbilical cord separation [HPO term]
- Impaired neutrophil chemotaxis [HPO term]
- Impaired oxidative burst [HPO term]
- Leukocytosis [HPO term]
- Macrocytic anemia [HPO term]
- Neonatal omphalitis [HPO term]
- Neutrophilia [HPO term]
- Poor wound healing [HPO term]
- Rectal abscess [HPO term]
- Reduction of neutrophil motility [HPO term]
- Urachal cyst [HPO term]
ORDO concept(s)
- Neutrophil immunodeficiency syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neutrophil immunodeficiency syndrome [ORDO Disease]
- Neutrophil immunodeficiency syndrome [ICD-11 Sub-sub category]
- Neutrophil immunodeficiency syndrome (disorder) [SNOMED CT concept]
- immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis [DO Concept]
- neutrophil immunodeficiency syndrome [MeSH Supplementary Concept]
- neutrophil immunodeficiency syndrome [MeSH concept]

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