Metadata | |
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ID | DOID:8354 |
Name | complement component 3 deficiency |
Definition | 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. https://www.omim.org/entry/613779 |
Xrefs |
SNOMEDCT_US_2023_03_01:771443008 |
Subsets |
DO_rare_slim NCIthesaurus |
Synonyms |
C3 deficiency [EXACT] |
Parent Relationships |