autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
A syndrome characterized by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal hemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures.
MONDO:0002254
syndromic disease
is_a
MONDO:0004995
cardiovascular disorder
is_a
MONDO:0800461
COL4A1-related disorder
is_a
HANAC
exact
HANAC syndrome
exact
angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
exact
hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
related
hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome
exact