Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia

Preferred Label : Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia;

Symbol : IMD73C;

CISMeF acronym : IMD73C;

Type : Phenotype, molecular basis known;

Prefixed ID : #618987;

Details

Origin ID

618987;

UMLS CUI

C5436550;

Automatic exact mappings (from CISMeF team)
- RAC2 wt Allele [NCIt concept]
DO Cross reference
- immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia [DO 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 recessive inheritance [HPO term]
- B lymphocytopenia [HPO term]
- Cervical lymphadenopathy [HPO term]
- Decreased circulating IgG level [HPO term]
- Decreased circulating total IgM [HPO term]
- Failure to thrive in infancy [HPO term]
- Recurrent respiratory infections [HPO term]
- Urticaria [HPO term]
ORDO concept(s)
- Neutrophil immunodeficiency syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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