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Metadata
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

NCI:C9468

OMIM:613779

ORDO:280133

SNOMEDCT_US_2020_03_01:771443008

UMLS_CUI:C1332655

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

C3 deficiency [EXACT]

Parent Relationships

is_a complement deficiency

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