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Immunodeficiency 25
Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD247 gene. [from MONDO]
Reynolds syndrome
An autoimmune disorder characterized by the association of primary biliary cirrhosis with limited cutaneous systemic sclerosis. Onset occurs between 30-65 years. Occurs sporadically, but rare familial cases with an unknown inheritance pattern have been observed. There is no cure and management is mainly supportive. [from SNOMEDCT_US]
Antimitochondrial antibody positivity
The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria. [from HPO]
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