Complement component 4, partial deficiency of

Preferred Label : Complement component 4, partial deficiency of;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Prefixed ID : #120790;

Details

Origin ID

120790;

UMLS CUI

C1852700;

Automatic exact mappings (from CISMeF team)
- C1 inhibitor deficiency [ORDO Disease]
- Immunodeficiency due to a classical component pathway complement deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- complement component 4, partial deficiency of [MeSH concept]
- complement component 4, partial deficiency of [MeSH Supplementary Concept]
Genes related to phenotype
- Complement component 1 inhibitor [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Systemic lupus erythematosus [HPO term]
ORDO concept(s)
- C1 inhibitor deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- complement component 4, partial deficiency of [MeSH Supplementary Concept]
- complement component 4, partial deficiency of [MeSH concept]

Keyword's position in hierarchy(ies) :

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