Complement component 4b deficiency

Preferred Label : Complement component 4b deficiency;

Symbol : C4BD;

CISMeF acronym : C4BD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : C4b deficiency;

Prefixed ID : #614379;

Details

Origin ID

614379;

UMLS CUI

C5779962;

Automatic exact mappings (from CISMeF team)
- C4B wt Allele [NCIt concept]
- Decreased serum complement C4b [HPO term]
- Immunodeficiency due to a classical component pathway complement deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- complement component 4b deficiency [DO Concept]
DO Cross reference
- complement component 4b deficiency [DO Concept]
Genes related to phenotype
- Complement component 4b [OMIM gene]
HPO term(s)
- Asthma [HPO term]
- Chronic active hepatitis [HPO term]
- Chronic diarrhea [HPO term]
- Decreased serum complement C4b [HPO term]
- Infantile onset [HPO term]
- Meningitis [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent sinusitis [HPO term]
ORDO concept(s)
- Immunodeficiency due to a classical component pathway complement deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Decreased serum complement C4b [HPO term]
- complement component 4b deficiency [DO Concept]

Keyword's position in hierarchy(ies) :

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