Complement factor b deficiency

Preferred Label : Complement factor b deficiency;

Symbol : CFBD;

CISMeF acronym : CFBD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the complement factor B gene (CFB, 138470.0007);

Prefixed ID : #615561;

Details

Origin ID

615561;

UMLS CUI

C3809950;

Automatic exact mappings (from CISMeF team)
- CFB wt Allele [NCIt concept]
Genes related to phenotype
- Complement factor b [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Childhood onset [HPO term]
- Decreased serum complement factor B [HPO term]
- Meningitis [HPO term]
- Peritonitis [HPO term]
- Pneumonia [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent meningococcal disease [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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