Dursun syndrome
A syndromic disease caused by mutation in the G6PC3 gene, characterized by familial pulmonary arterial hypertension, leukopenia, and atrial septal defect.
MONDO:0002254
syndromic disease
is_a
MONDO:0003847
hereditary disease
is_a
familial PAH, leucopenia and ASD
related
familial pulmonary arterial hypertension leucopenia and atrial septal defect
exact
familial pulmonary arterial hypertension, leucopenia and ASD
related
familial pulmonary arterial hypertension, leucopenia, and atrial septal defect
exact