hereditary disease COL4A1/A2-related disorder https://github.com/monarch-initiative/mondo/issues/7786 MONDO:1010150 Gould syndrome COL4A1/A2 syndrome A rare genetic disorder characterized by abnormal blood vessels in the brain (cerebral vasculature defects), eye development defects (ocular dysgenesis), muscle disease (myopathy) and kidney abnormalities (renal pathology) due to a variation in the COL4A1 or COL4A2 gene. The full spectrum of this syndrome is not yet completely characterized and there are many other aspects of the syndrome including abnormalities affecting the structure of the brain (cerebral cortical abnormalities) and lung (pulmonary) abnormalities that can be part of the spectrum of the disease. https://rarediseases.org/rare-diseases/col4a1-a2-related-disorders/