complement component 3 deficiency
Information
- Disease name
- complement component 3 deficiency
- Disease ID
- DOID:8354
- Description
- "A complement deficiency that is characterized by deficiency of complement component 3 that increases susceptibility to infection and autoimmune diseases and has_material_basis_in autosomal recessive inheritance of mutation in the C3 gene on chromosome 19p13.3, has_symptom recurrent bacterial infections." [url:https\://www.omim.org/entry/613779]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:626
- Cross Reference ID (Disease Ontology)
- MIM:613779
- Cross Reference ID (Disease Ontology)
- NCI:C9468
- Cross Reference ID (Disease Ontology)
- ORDO:280133
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:771443008
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1332655
- Exact Synonym (Disease Ontology)
- C3 deficiency
- OrphaNumber from OrphaNet (Orphanet)
- 280133