Complement component 2 deficiency

Preferred Label : Complement component 2 deficiency;

Symbol : C2D;

CISMeF acronym : C2D;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : C2 deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the complement component 2 gene (C2, 613927.0001);

Prefixed ID : #217000;

Details

Origin ID

217000;

UMLS CUI

C3150275;

Automatic exact mappings (from CISMeF team)
- Immunodeficiency due to a classical component pathway complement deficiency [ORDO Disease]
CISMeF manual mappings
- Complement component C2 deficiency [ICD-11 More detail]
Currated CISMeF NLP mapping
- C2 Deficiency [NCIt concept]
- complement component 2 deficiency [DO Concept]
DO Cross reference
- complement component 2 deficiency [DO Concept]
Genes related to phenotype
- Complement component 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Purpura [HPO term]
- Systemic lupus erythematosus [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)
- C2 Deficiency [NCIt concept]
- Complement component C2 deficiency [ICD-11 More detail]
- complement component 2 deficiency [DO Concept]

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