von Hippel-Lindau disease
An autosomal dominant disorder caused by pathogenic variants in the VHL gene, leading to an increased risk of various benign and malignant tumors, including hemangioblastomas, retinal hemangiomas, endolymphatic sac tumors, renal cell carcinoma, and pheochromocytomas.
MONDO:0005328
eye disorder
excluded_subClassOf
MONDO:0015079
multiple polyglandular tumor
excluded_subClassOf
MONDO:0015953
obsolete genetic central nervous system and retinal vascular disease (obsolete MONDO:0015953)
excluded_subClassOf
MONDO:0016756
obsolete inherited nervous system cancer-predisposing syndrome (obsolete MONDO:0016756)
excluded_subClassOf
MONDO:0017891
obsolete inherited renal cancer-predisposing syndrome (obsolete MONDO:0017891)
excluded_subClassOf
MONDO:0019741
familial cystic renal disease
excluded_subClassOf
MONDO:0019755
developmental defect during embryogenesis
excluded_subClassOf
MONDO:0020676
obsolete disorder of central nervous system or retinal vasculature (obsolete MONDO:0020676)
excluded_subClassOf
MONDO:0021147
disorder of development or morphogenesis
excluded_subClassOf
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0042983
neurocutaneous syndrome
is_a
MONDO:0100545
hereditary neurological disease
is_a
Lindau disease
exact
VHL
exact
VHL syndrome
related
VHL-related von Hippel-Lindau disease
exact
Von Hippel Lindau disease
related
Von Hippel-Lindau syndrome
exact
Von Hippel-Lindau syndrome (VHL)
exact
cerebroretinal angiomatosis
exact
familial cerebelloretinal angiomatosis
exact
von Hippel-Lindau disease
exact
von Hippel-Lindau syndrome
exact
von Hippel-Lindau syndrome, modifier of
exact