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Disease	Synonyms	Description	Articles	Phenotypes
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. [-]
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. [-]
optic atrophy 5	OPA5	An optic atrophy characterized by degeneration of ..[+] An optic atrophy characterized by degeneration of retinal ganglion cells resulting in slowly progressive visual loss with variable onset from the first to third decades that has_material_basis_in heterozygous of mutation in DNM1L on chromosome 12p11.21. [-]
optic atrophy 4	OPA4	An optic atrophy that has_material_basis_in hetero..[+] An optic atrophy that has_material_basis_in heterozygous mutation in a region on chromosome 18q12.2-q12.3. [-]
optic atrophy 1	OPA1	An optic atrophy characterized by early childhood ..[+] An optic atrophy characterized by early childhood onset of visual impairment, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29. [-]
optic atrophy 9	OPA9	An optic atrophy characterized by early childhood ..[+] An optic atrophy characterized by early childhood onset of decreased visual acuity and pallor of the optic discs, severely reduced visual acuity, paracentral scotoma, red-green dyschromatopsia, and temporal optic atrophy at the fundus that has_material_basis_in homozygous or compound heterozygous mutation in the ACO2 gene on chromosome 22q13.2. [-]
osteoglophonic dysplasia	OGD; osteoglophonic dwarfism; Fairbank-Keats syndr.. [+] osteoglophonic dwarfism; OGD; Fairbank-Keats syndrome [-]	An osteochondrodysplasia characterized by rhizomel..[+] An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23. [-]
overhydrated hereditary stomatocytosis	OHS; potassium sodium disorder of erythrocyte; sto.. [+] OHS; potassium sodium disorder of erythrocyte; stomatocytosisIOHST [-]	A macrocytic anemia characterized by macrocytic he..[+] A macrocytic anemia characterized by macrocytic hemolytic anemia and monovalent cation leak from red blood cells that has_material_basis_in heterozygous mutation in the RHAG gene on chromosome 6p12.3. [-]
oculoectodermal syndrome	aplasia cutis congenita-epibulbar dermoids syndrom.. [+] aplasia cutis congenita-epibulbar dermoids syndrome; Toriello-Lacassie-Droste syndrome [-]	An ectodermal dysplasia characterized by epibulbar..[+] An ectodermal dysplasia characterized by epibulbar dermoids and aplasia cutis congenita that has_material_basis_in somatic mosaic mutation in the KRAS gene on chromosome 12p12.1. [-]
oblique facial clefting 1	Tessier number 4 facial cleft	An orofacial cleft characterized by a congenital u..[+] An orofacial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, ending at the the lower eyelid lateral to the inferior punctum that has_material_basis_in heterozygous mutation in the SPECC1L gene on chromosome 22q11.23. [-]
otopalatodigital syndrome spectrum disorder	OPD spectrum disorder; OPSD; fronto-otopalatodigit.. [+] OPSD; OPD spectrum disorder; fronto-otopalatodigital osteodysplasia [-]	A bone development disease characterized by typica..[+] A bone development disease characterized by typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes with skeletal dysplasia developing as varying combinations and degrees of undertubulation of the long bones, cortical irregularity and campomelia. Most but not all subtypes are associated with mutations in FLNA on chromosome Xq28. [-]
otopalatodigital syndrome type 1	otopalatodigital syndrome type I; OPD I syndrome; .. [+] OPD I syndrome; otopalatodigital syndrome type I; oto-palato-digital syndrome type 1; OPD1; OPD syndrome 1; Taybi syndrome [-]	An otopalatodigital syndrome spectrum disorder cha..[+] An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of the FLNA gene on chromosome Xq28. [-]
otopalatodigital syndrome type 2	oto-palato-digital syndrome type 2; otopalatodigit.. [+] oto-palato-digital syndrome type 2; otopalatodigital syndrome type II; OPD2; OPD syndrome 2; OPD II syndrome; faciopalatoosseous syndrome; Andre 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. [-]
osteogenesis imperfecta type 18	osteogenesis imperfecta, type XVIII; OI18	An osteogenesis imperfecta characterized by congen..[+] An osteogenesis imperfecta characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in TENT5A on chromosome 6q14.1. [-]
osteogenesis imperfecta type 20	osteogenesis imperfecta type XX; OI20	An osteogenesis imperfecta characterized by osteop..[+] An osteogenesis imperfecta characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography that has_material_basis_in homozygous or compound heterozygous mutation in MESD on chromosome 15q25.1. [-]
osteogenesis imperfecta type 21	osteogenesis imperfecta type XXI; OI21	An osteogenesis imperfecta characterized by multip..[+] An osteogenesis imperfecta characterized by multiple fractures that often occur after minor trauma, disproportionate short stature, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in KDELR2 on chromosome 7p22.1. [-]
bone cancer	osseous tumor; CA - bone cancer; malignant bone ne.. [+] osseous tumor; CA - bone cancer; malignant bone neoplasm; malignant bone tumour; bone tumour; malignant neoplasm of bone; bone neoplasm; 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. [-]	8 articles	8 matches
exostosis	osteophyte; orbital exostosis; bone spur; bony out.. [+] orbital exostosis; osteophyte; 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. [-]	1 articles
hereditary multiple exostoses	Osteochondromatosis syndrome; Osteochondromatosis .. [+] Osteochondromatosis syndrome; Osteochondromatosis syndrome (disorder) [Ambiguous]; hereditary multiple exostoses 1; hereditary multiple exostoses 2; Multiple congenital exostosis; Multiple exostosis syndromes; hereditary multiple exostoses 3; 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. [-]	1 articles
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; Third cranial nerve dis.. [+] Oculomotor nerve disorder; Third cranial nerve disease (disorder); disorder of oculomotor nerve; Third cranial nerve disease [-]	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 lymphoma	oesophagus lymphoma; Lymphoma of oesophagus; Lymph.. [+] oesophagus lymphoma; Lymphoma of oesophagus; Lymphoma of esophagus [-]	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 [-]	A vascular disease characterized by the presence o..[+] A vascular 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. [-]	23 articles
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; invasive squamo.. [+] ocular surface squamous neoplasia; invasive squamous cell carcinoma of the conjunctiva; squamous cell carcinoma of conjunctiva; Conjunctival Epidermoid carcinoma [-]	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); fibrous dysplasia of bone; polyostotic fibrous dysplasia [-]	A syndrome that is characterized by polyostotic fi..[+] A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis. [-]
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; OAV (oculoauriculoverteb.. [+] Otomandibular dysostosis; OAV (oculoauriculovertebral) dysplasia; Otomandibular dysostosis (disorder); Facio-auriculo-vertebral spectrum (disorder); First AND second branchial arch syndrome; First arch syndrome (disorder); HEMIFACIAL MICROSOMIA; Facio-auriculo-vertebral spectrum; First arch syndrome [-]	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. [-]	1 articles
spinal cord oligodendroglioma	Oligodendroglioma of spinal cord; Oligodendrogliom.. [+] Oligodendroglioma of spinal cord; Oligodendroglioma of spinal cord (disorder); Well differentiated Spinal Cord Oligodendroglioma [-]	n_a
brain oligodendroglioma	Oligodendroglioma of brain; Oligodendroglioma of b.. [+] Oligodendroglioma of brain; Oligodendroglioma of brain (disorder); brain Oligodendroglioma [-]	A brain glioma that has_material_basis_in oligoden..[+] A brain glioma that has_material_basis_in oligodendrocytes. [-]
mucinous ovarian cystadenoma	Ovarian mucinous Cystadenoma; mucinous cystadenoma.. [+] Ovarian mucinous Cystadenoma; mucinous cystadenoma of ovary (disorder); mucinous cystadenoma of ovary [-]	An ovarian cystadenoma that is characterized by th..[+] An ovarian cystadenoma that is characterized by the presence of mucin. [-]
bone inflammation disease	osteitis; Inflammatory disorder of bone; bone infl.. [+] osteitis; Inflammatory disorder of bone; bone inflammatory disease [-]	A bone disease that results_in inflammation of the..[+] A bone disease that results_in inflammation of the located_in bone. [-]	9 articles
bone angioendothelial sarcoma	osseous hemangiosarcoma	n_a
bone osteosarcoma	Osteosarcoma of bone; Osteosarcoma of bone (disord.. [+] Osteosarcoma of bone; Osteosarcoma of bone (disorder); primary Osteosarcoma of bone [-]	An osteosarcoma that is an usually aggressive mali..[+] An osteosarcoma that is an usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs. [-]
esophagus verrucous carcinoma	oesophagus verrucous carcinoma; verrucous carcinom.. [+] oesophagus verrucous carcinoma; verrucous carcinoma of esophagus; verrucous carcinoma of the esophagus; verrucous carcinoma of oesophagus [-]	n_a
esophagus squamous cell carcinoma	oesophagus squamous cell carcinoma; SCC of esophag.. [+] oesophagus squamous cell carcinoma; SCC of esophagus; squamous cell carcinoma of esophagus; squamous cell carcinoma of esophagus (disorder); SCC of oesophagus [-]	An esophageal carcinoma that derives_from epitheli..[+] An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus. [-]	1 articles
pituitary-dependent Cushing's disease	Overproduction of ACTH; pituitary-dependent Cushin.. [+] Overproduction of ACTH; pituitary-dependent Cushing disease [-]	n_a	1 articles
bone giant cell tumor	osteoclastoma; Giant cell neoplasm of bone; Giant .. [+] osteoclastoma; Giant cell neoplasm of bone; Giant cell tumor of bone (morphologic abnormality); Giant cell tumor of bone NOS (morphologic abnormality); giant cell myeloma; bone giant cell tumour; Giant cell tumor of bone; Giant cell tumour of bone [-]	A benign giant cell tumor that results_in the pres..[+] A benign giant cell tumor that results_in the presence of multinucleated giant cells. [-]

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