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Disease	Synonyms	Description
ocular albinism with sensorineural deafness	autosomal recessive Waardenburg syndrome type 2 wi.. [+] autosomal recessive Waardenburg syndrome type 2 with ocular albinism; digenic Waardenburg syndrome/albinism; digenic Waardenburg syndrome/ocular albinism; WS2-OA [-]	A digenic disease characterized by ocular albinism..[+] A digenic disease characterized by ocular albinism, deafness and vestibular dysfunction that has_material_basis_in mutations in the MITF gene on chromosome 3p13 and at least one other gene. The second gene mutation has been reported to be in the gene TYR on chromosome 11q14.3 and in the gene TYRP1 on chromosome 9p23. [-]
osteogenesis imperfecta type 1	osteogenesis imperfecta type I; OI1	An osteogenesis imperfecta that is characterized b..[+] An osteogenesis imperfecta that is characterized by bone fragility and blue 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 with opalescent teeth, blue sclerae and wormian bones but without fractures		An osteogenesis imperfecta found in a single South..[+] An osteogenesis imperfecta found in a single South African family. [-]
osteogenesis imperfecta type 8	osteogenesis imperfecta type VIII; OI8	An osteogenesis imperfecta that has_material_basis..[+] An osteogenesis imperfecta that has_material_basis_in mutation in the P3H1 gene on chromosome 1p34.2. [-]
osteogenesis imperfecta type 7	osteogenesis imperfecta type VII; OI7	An osteogenesis imperfecta that has_material_basis..[+] An osteogenesis imperfecta that has_material_basis_in mutation in the CRTAP gene on chromosome 3p22. [-]
osteogenesis imperfecta type 17	osteogenesis imperfecta type XVII; OI17	An osteogenesis imperfecta that has_material_basis..[+] An osteogenesis imperfecta that has_material_basis_in mutation in the SPARC gene on chromosome 5q33. [-]
osteogenesis imperfecta type 3	OI3; osteogenesis imperfecta type III; progressive.. [+] osteogenesis imperfecta type III; OI3; 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 with normal sclera; osteog.. [+] osteogenesis imperfecta with normal sclera; osteogenesis imperfecta type IV; 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	osteogenesis imperfecta type XIV; OI14	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 hereditary night blindness characterized by cong..[+] A hereditary 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. [-]
occipital horn syndrome	EDS IX; Ehlers-Danlos syndrome type 9; Ehlers-Danl.. [+] EDS IX; Ehlers-Danlos syndrome type 9; Ehlers-Danlos syndrome type IX; X-linked cutis laxa [-]	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 6	OPA6	An optic atrophy characterized by early onset of s..[+] An optic atrophy characterized by early onset of slowly progressive isolated optic atrophy that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 8q21-q22. [-]
optic atrophy 11	OPA11	An optic atrophy characterized by delayed psychomo..[+] An optic atrophy characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy consistent with mitochondrial dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the YME1L1 gene on chromosome 10p12.1. [-]
optic atrophy 7	optic atrophy 7 with or without auditory neuropath.. [+] optic atrophy 7 with or without auditory neuropathy; OPA7 [-]	An optic atrophy characterized by juvenile onset, ..[+] An optic atrophy characterized by juvenile onset, severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126A gene on chromosome 11q14.1. [-]
otopalatodigital syndrome type 2	otopalatodigital syndrome type II; oto-palato-digi.. [+] otopalatodigital syndrome type II; oto-palato-digital syndrome type 2; OPD2; OPD syndrome 2; OPD II syndrome; Andre syndrome; faciopalatoosseous syndrome [-]	An otopalatodigital syndrome spectrum disorder cha..[+] An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has_material_basis_in hemizygous or heterozygous mutation in exons 3, 4, or 5 in males or exons 28 or 29 in females of the FLNA gene on chromosome Xq28. [-]
osteogenesis imperfecta type 19	osteogenesis imperfecta type XIX; OI19	An osteogenesis imperfecta characterized by prenat..[+] An osteogenesis imperfecta characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, variable scoliosis and pectal deformity, and marked anterior angulation of the tibia that has_material_basis_in hemizygous mutation in MBTPS2 on chromosome Xp22.12. [-]
bone cancer	osseous tumor; bone neoplasm; bone tumour; CA - bo.. [+] osseous tumor; bone neoplasm; bone tumour; CA - bone cancer; malignant bone neoplasm; malignant bone tumour; malignant neoplasm of bone; malignant osseous tumor; neoplasm of bone [-]	A connective tissue cancer that is located_in bone..[+] A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue. [-]
exostosis	orbital exostosis; osteophyte; bone spur; bony out.. [+] osteophyte; orbital exostosis; bone spur; bony outgrowth; swimmer's exostosis [-]	A hyperostosis that involves formation of new bone..[+] A hyperostosis that involves formation of new bone on the surface of preexisting bone. [-]
hereditary multiple exostoses	Osteochondromatosis syndrome; Osteochondromatosis .. [+] Osteochondromatosis syndrome; Osteochondromatosis syndrome (disorder) [Ambiguous]; hereditary multiple exostoses 1; hereditary multiple exostoses 2; hereditary multiple exostoses 3; Multiple congenital exostosis; Multiple exostosis syndromes; multiple ostechondromas [-]	An exostosis that has_material_basis_in a mutation..[+] An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth. [-]
eye carcinoma	Ocular carcinoma; carcinoma of eye	An ocular cancer that has_material_basis_in abnorm..[+] An ocular cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells and arises_from the tissues that cover structures located_in the eye. [-]
third cranial nerve disease	Oculomotor nerve disorder; disorder of oculomotor .. [+] Oculomotor nerve disorder; disorder of oculomotor nerve; Third cranial nerve disease (disorder) [-]	n_a
central pontine myelinolysis	osmotic demyelination syndrome; osmotic demyelinat.. [+] osmotic demyelination syndrome; osmotic demyelination syndrome [-]	A demyelination disease that is characterized by s..[+] A demyelination disease that is characterized by severe damage to the myelin sheath of the pons' nerve cells and has_symptom acute paralysis, has_symptom dysphagia, and has_symptom dysarthria. [-]
myositis ossificans	Ossification - muscle; Myisitis ossificans	A myositis that is accompanied by ossification of ..[+] A myositis that is accompanied by ossification of muscle tissue or bony deposits in the muscles. [-]
carotid artery occlusion	Occlusion and stenosis of carotid artery	n_a
residual stage of open angle glaucoma	Open-angle glaucoma residual stage; Residual stage.. [+] Open-angle glaucoma residual stage; Residual stage of open angle glaucoma [-]	n_a
esophagus melanoma	oesophagus melanoma; melanoma of esophagus; melano.. [+] oesophagus melanoma; melanoma of esophagus; melanoma of oesophagus [-]	n_a
hereditary hemorrhagic telangiectasia	Osler-Weber-Rendu disease; Osler hemorrhagic telan.. [+] Osler-Weber-Rendu disease; Osler hemorrhagic telangiectasia syndrome; Rendu-Osler-Weber disease [-]	An autosomal dominant disease characterized by the..[+] An autosomal dominant disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins. [-]
gyrate atrophy	Ornithinemia with gyrate atrophy; Gyrate atrophy o.. [+] Ornithinemia with gyrate atrophy; Gyrate atrophy of the choroid and/or retina; gyrate atrophy of the retina [-]	n_a
cognitive disorder	Organic Mental disorder; cognitive disease	A disease of mental health that affects cognitive ..[+] A disease of mental health that affects cognitive functions including memory processing, perception and problem solving. [-]
skeletal tuberculosis	osteoarticular tuberculosis	An extrapulmonary tuberculosis that results in for..[+] An extrapulmonary tuberculosis that results in formation of lesions located in bone. [-]
retinal vein occlusion	Occlusion, of retinal vein; Retinal vein occlusion.. [+] Occlusion, of retinal vein; Retinal vein occlusion [-]	n_a
conjunctival squamous cell carcinoma	ocular surface squamous neoplasia; Conjunctival Ep.. [+] ocular surface squamous neoplasia; Conjunctival Epidermoid carcinoma; invasive squamous cell carcinoma of the conjunctiva; squamous cell carcinoma of conjunctiva [-]	A conjunctival cancer characterized by abnormal gr..[+] A conjunctival cancer characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that has infiltrated beyond the confines of the epithelial basement membrane. [-]
McCune Albright syndrome	osteitis fibrosa disseminata; fibrous Dysplasia of.. [+] osteitis fibrosa disseminata; fibrous Dysplasia of bone; fibrous dysplasia of bone (disorder); polyostotic fibrous dysplasia [-]	An autosomal dominant disease that involves skin p..[+] An autosomal dominant disease that involves skin pigmentation, bone and hormonal problems along with premature puberty. It has material basis in mutations in the GNAS1 gene. [-]
hereditary elliptocytosis	ovalocytosis; Congenital elliptocytosis	A hematopoietic system disease characterized by ov..[+] A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present. [-]
bronchiolitis obliterans	Obliterative bronchiolitis; Bronchiolitis exudativ.. [+] Obliterative bronchiolitis; Bronchiolitis exudativa; Bronchiolitis fibrosa obliterans [-]	A obstructive lung disease involving obstruction o..[+] A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults. [-]
cranial nerve III tumor	Oculomotor nerve tumor; Oculomotor nerve tumour; n.. [+] Oculomotor nerve tumour; Oculomotor nerve tumor; neoplasm of oculomotor nerve (disorder); cranial nerve III tumour; neoplasm of oculomotor nerve [-]	n_a
Goldenhar syndrome	Otomandibular dysostosis (disorder); OAV (oculoaur.. [+] Otomandibular dysostosis (disorder); OAV (oculoauriculovertebral) dysplasia; Facio-auriculo-vertebral spectrum (disorder); First AND second branchial arch syndrome; First arch syndrome (disorder); HEMIFACIAL MICROSOMIA [-]	A syndrome that is characterized by incomplete dev..[+] A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch. [-]
spinal cord oligodendroglioma	Oligodendroglioma of spinal cord; Oligodendrogliom.. [+] Oligodendroglioma of spinal cord; Oligodendroglioma of spinal cord (disorder); Well differentiated Spinal Cord Oligodendroglioma [-]	n_a

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