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Disease	Synonyms	Description
osteogenesis imperfecta type 3	osteogenesis imperfecta type III; OI3; progressive.. [+] OI3; osteogenesis imperfecta type III; progressively deforming osteogenesis imperfecta with normal sclera [-]	An osteogenesis imperfecta that is characterized b..[+] An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. [-]
osteogenesis imperfecta type 4	osteogenesis imperfecta type IV; osteogenesis impe.. [+] osteogenesis imperfecta type IV; osteogenesis imperfecta with normal sclera; OI4 [-]	An osteogenesis imperfecta that is characterized b..[+] An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. [-]
osteogenesis imperfecta type 2	OI2; osteogenesis imperfecta type II; perinatal le.. [+] osteogenesis imperfecta type II; OI2; perinatal lethal osteogenesis imperfecta congenita; Vrolik type of osteogenesis imperfecta [-]	An osteogenesis imperfecta that is characterized b..[+] An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. [-]
osteogenesis imperfecta type 13	osteogenesis imperfecta type XIII; OI13	An osteogenesis imperfecta that has_material_basis..[+] An osteogenesis imperfecta that has_material_basis_in mutation in the BMP1 gene on chromosome 8p21. [-]
osteogenesis imperfecta type 14	OI14; osteogenesis imperfecta type XIV	An osteogenesis imperfecta that has_material_basis..[+] An osteogenesis imperfecta that has_material_basis_in mutation in the TMEM38B gene on chromosome 9q31. [-]
osteogenesis imperfecta type 5	osteogenesis imperfecta type V; OI5	An osteogenesis imperfecta that has_material_basis..[+] An osteogenesis imperfecta that has_material_basis_in mutation in the IFITM5 gene on chromosome 11p15. [-]
osteogenesis imperfecta type 16	OI16; osteogenesis imperfecta type XVI; chromosome.. [+] osteogenesis imperfecta type XVI; OI16; chromosome 11p11.2 deletion syndrome 91.3-KB [-]	An osteogenesis imperfecta that has_material_basis..[+] An osteogenesis imperfecta that has_material_basis_in contiguous gene deletion on chromosome 11p11. [-]
osteogenesis imperfecta type 10	osteogenesis imperfecta type X; OI10	An osteogenesis imperfecta that has_material_basis..[+] An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINH gene on chromosome 11q13. [-]
osteogenesis imperfecta type 15	osteogenesis imperfecta type XV; OI15	An osteogenesis imperfecta that has_material_basis..[+] An osteogenesis imperfecta that has_material_basis_in mutation in the WNT1 gene on chromosome 12q13. [-]
osteogenesis imperfecta type 12	osteogenesis imperfecta type XII; OI12	An osteogenesis imperfecta that has_material_basis..[+] An osteogenesis imperfecta that has_material_basis_in mutation in the SP7 gene on chromosome 12q13. [-]
osteogenesis imperfecta type 9	osteogenesis imperfecta type IX; OI9	An osteogenesis imperfecta that has_material_basis..[+] An osteogenesis imperfecta that has_material_basis_in mutation in the PPIB gene on chromosome 15q22. [-]
osteogenesis imperfecta type 6	osteogenesis imperfecta type VI; OI6	An osteogenesis imperfecta that has_material_basis..[+] An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINF1 gene on chromosome 17p13.3. [-]
osteogenesis imperfecta type 11	osteogenesis imperfecta type XI; OI11	An osteogenesis imperfecta that has_material_basis..[+] An osteogenesis imperfecta that has_material_basis_in mutation in the FKBP10 gene on chromosome 17q21. [-]
Oguchi disease-1	congenital stationary night blindness Oguchi type .. [+] congenital stationary night blindness Oguchi type 1; CSNBO1 [-]	A congenital stationary night blindness characteri..[+] A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous or compound heterozygous mutation in the SAG gene on chromosome 2q37. [-]
Oguchi disease-2	congenital stationary night blindness Oguchi type .. [+] congenital stationary night blindness Oguchi type 2; CSNBO2 [-]	A congenital stationary night blindness characteri..[+] A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous mutation in the GRK1 gene on chromosome 13q34. [-]
oligomeganephronia	Oligomeganephronic renal hypoplasia	A renal hypoplasia characterized by bilateral redu..[+] A renal hypoplasia characterized by bilateral reduced kidney size with a marked decrease in the total number of nephrons. [-]
Oliver-McFarlane syndrome	OMCS; long eyelashes-intellectual disability syndr.. [+] OMCS; long eyelashes-intellectual disability syndrome; trichomegaly-retina pigmentary degeneration-dwarfism syndrome; eyelashes long mental retardation [-]	A syndrome characterized by trichomegaly, severe c..[+] A syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2. [-]
occipital horn syndrome	EDS IX; Ehlers-Danlos syndrome type IX; X-linked c.. [+] EDS IX; Ehlers-Danlos syndrome type IX; X-linked cutis laxa; Ehlers-Danlos syndrome type 9 [-]	A metal metabolism disorder characterized by hyper..[+] A metal metabolism disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, abnormal copper transport, and multiple skeletal abnormalities that has_material_basis_in X-linked recessive inheritance of mutations in ATP7A on Xq21.1. This disorder is allelic to Menkes disease. [-]
optic atrophy 3	OPA3; optic atrophy 3 with cataract; ADOAC; autoso.. [+] optic atrophy 3 with cataract; OPA3; ADOAC; autosomal dominant optic atrophy 3; autosomal dominant optic atrophy type 3; autosomal dominant optic atrophy and cataract [-]	An optic atrophy characterized by optic atrophy an..[+] An optic atrophy characterized by optic atrophy and cataract that has_material_basis_in heterozygous mutation in the OPA3 gene on chromosome 19q13.32. [-]
optic atrophy 10	optic atrophy 10 with or without ataxia, mental re.. [+] optic atrophy 10 with or without ataxia, mental retardation, and seizures; OPA10 [-]	An optic atrophy characterized by early-onset opti..[+] An optic atrophy characterized by early-onset optic neuropathy and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the RTN4IP1 gene on chromosome 6q21. [-]

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