Collagen disease

group of genetic connective tissue disorders

osteochondrodysplasia that has material basis in a deficiency in type-I collagen which results in brittle bones and defective connective tissue

monogenic disease characterized by glomerulonephritis, endstage kidney disease, and hearing loss

rare genetic disorder affecting collagen

corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision

osteochondrodysplasia that has material basis in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain

Human disease

inherited disease affecting the skin and other organs

medical condition

group of diseases affecting connective tissue

Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence

human disease

protein-coding gene in the species Homo sapiens