Osteogenesis imperfecta and a reduction of bone mineral density.

rare

A skeletal dysplasia characterized by osteogenesis imperfecta and decreased bone density.

Identifiers: MONDO:0800064
Part of: Osteogenesis imperfecta
Also known as: osteogenesis imperfecta and bone fragility group

Subtypes

Disease	ID	Subtypes	Genes
Osteogenesis imperfecta type 1	MONDO:0008146	1	COL1A1
Bruck syndrome 2	MONDO:0012217		PLOD2
Cole-Carpenter syndrome 1	MONDO:0007204		P4HB
Cole-Carpenter syndrome 2	MONDO:0014573		SEC24D
Singleton-Merten syndrome 1	MONDO:0024535
Singleton-Merten syndrome 2	MONDO:0014575		RIGI
Wiedemann-Rautenstrauch syndrome	MONDO:0009910
Autosomal recessive cutis laxa type 2B	MONDO:0013051		PYCR1
Calvarial doughnut lesions-bone fragility syndrome	MONDO:0007470		SGMS2
Geroderma osteodysplasticum	MONDO:0009271		GORAB
Gnathodiaphyseal dysplasia	MONDO:0008151		ANO5
Osteogenesis imperfecta type 10	MONDO:0013459		SERPINH1
Osteogenesis imperfecta type 11	MONDO:0012592		FKBP10
Osteogenesis imperfecta type 12	MONDO:0013460		SP7
Osteogenesis imperfecta type 14	MONDO:0014029		TMEM38B
Osteogenesis imperfecta type 15	MONDO:0014086		WNT1
Osteogenesis imperfecta type 16	MONDO:0014544		CREB3L1
Osteogenesis imperfecta type 17	MONDO:0014672		SPARC
Osteogenesis imperfecta type 2	MONDO:0008147
Osteogenesis imperfecta type 3	MONDO:0009804
Osteogenesis imperfecta type 4	MONDO:0008148
Osteogenesis imperfecta type 5	MONDO:0012591		IFITM5
Osteogenesis imperfecta type 6	MONDO:0013515		SERPINF1
Osteogenesis imperfecta type 7	MONDO:0012536		CRTAP
Osteogenesis imperfecta type 8	MONDO:0012581		P3H1
Osteogenesis imperfecta type 9	MONDO:0009805		PPIB
Osteogenesis imperfecta, type 18	MONDO:0044329		TENT5A
Osteogenesis imperfecta, type 19	MONDO:0049223		MBTPS2
Osteoporosis-pseudoglioma syndrome	MONDO:0009820
Short stature-optic atrophy-Pelger-Huët anomaly syndrome	MONDO:0013889		NBAS
Spondylo-ocular syndrome	MONDO:0011604		XYLT2
Wrinkly skin syndrome	MONDO:0010208

Rare disease

Projects

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