Osteopetrosis

Osteopetrosis is an inborn error of skeletal development and regulation of bone formation and resorption which results in generalized sclerosis and hardening of the bone. Because this process drives out the bone marrow, anaemia and extra-medullar haematopoiesis results, also splenomegaly.

Systematic

Metabolic bone disease
	Hereditary Rickets
	Inherited human diseases of heterotopic bone formation
	Osteopetrosis
		Autosomal dominant osteopetrosis 1
			LRP5
		Autosomal dominant osteopetrosis 2
			CLCN7
		Autosomal recessive osteopetrosis 4
			CLCN7
		Autosomal recessive osteopetrosis 7
			TNFRSF11A
		Combined renal tubular acidosis 3 with osteopetrosis 3
			CA2
	Osteoporosis/renal Osteodystrophy
	Pseudohypoparathyroidism