Immunodeficiency 34

Preferred Label : Immunodeficiency 34;

Symbol : IMD34;

CISMeF acronym : AMCBX2; IMD34;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Atypical mycobacteriosis, familial, X-linked 2; Immunodeficiency 34, mycobacteriosis, X-linked; AMCBX2;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the cytochrome b-245, beta polypeptide gene (CYBB, 300481.0022);

Prefixed ID : #300645;

Details

Origin ID

300645;

UMLS CUI

C1970859;

Automatic exact mappings (from CISMeF team)
- CYBB wt Allele [NCIt concept]
- X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency [ORDO Disease]
- immunodeficiency 34 [DO Concept]
Currated CISMeF NLP mapping
- atypical mycobacteriosis, familial, X-Linked 2 [MeSH concept]
- atypical mycobacteriosis, familial, X-Linked 2 [MeSH Supplementary Concept]
Genes related to phenotype
- Cytochrome b(-245), beta subunit [OMIM gene]
HPO term(s)
- Recurrent mycobacterial infections [HPO term]
- Severe recurrent varicella [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked mendelian susceptibility to mycobacterial diseases [ORDO Disease]
- X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency [ORDO Disease]
See also inter- (CISMeF)
- X-linked mendelian susceptibility to mycobacterial diseases [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- atypical mycobacteriosis, familial, X-Linked 2 [MeSH Supplementary Concept]
- atypical mycobacteriosis, familial, X-Linked 2 [MeSH concept]
- immunodeficiency 34 [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients