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Disease	Synonyms	Description
esophageal atresia	Oesophageal atresia; Congenital atresia of esophag.. [+] Oesophageal atresia; Congenital atresia of esophagus; Congenital imperforate esophagus; Imperforate esophagus [-]	n_a
nasal cavity olfactory neuroblastoma	Olfactory neuroblastoma of the nasal cavity	n_a
hypohidrosis	Oligohidrosis; Hypohidrosis (disorder)	n_a
vertebral artery occlusion	Occlusion and stenosis of vertebral artery	n_a
endometriosis of ovary	ovarian endometriosis	n_a
suppurative otitis media	Otitis media with effusion - purulent; Purulent ot.. [+] Otitis media with effusion - purulent; Purulent otitis media [-]	A otitis media which involves inflammation of the ..[+] A otitis media which involves inflammation of the middle ear with infected effusion containing pus. [-]
cicatricial pemphigoid	Ocular pemphigoid; ocular pemphigus; benign mucous.. [+] ocular pemphigus; Ocular pemphigoid; benign mucous membrane pemphigoid; benign mucous membrane pemphigoid with ocular involvement; Cicatricial pemphigoid with ocular involvement [-]	A pemphigoid that is characterized by skin lesions..[+] A pemphigoid that is characterized by skin lesions and scaring and located_in mucous membranes and located_in skin. [-]
spontaneous ocular nystagmus	Ocular nystagmus; Searching eye movements; visual .. [+] Ocular nystagmus; Searching eye movements; visual deprivation nystagmus; visual deprivation nystagmus (disorder) [-]	n_a
ureteric orifice cancer	Orifice of the Ureter; malignant neoplasm of urete.. [+] Orifice of the Ureter; malignant neoplasm of ureteric orifice of urinary bladder; malignant tumor of ureteric orifice (disorder); malignant tumor of ureteric orifice [-]	n_a
urethral obstruction	Obstruction of urethra (disorder)	n_a
mucopolysaccharidosis IV	Osteochondrodystrophy; chondroosteodystrophy; defi.. [+] Osteochondrodystrophy; chondroosteodystrophy; deficiency of chondroitinsulphatase; deficiency of N-acetylgalactosamine-6-sulphatase; galactosamine-6-sulfatase deficiency; Morquio A disease; Morquio syndrome A; MPS IV - Morquio syndrome A; MPS IV - Morquio syndrome B; mucopolysaccharidosis type IVA; Mucopolysaccharidosis type IVB; Mucopolysaccharidosis, MPS-IV; Mucopolysaccharidosis, MPS-IV-A (disorder) [-]	A mucopolysaccharidosis characterized by a deficie..[+] A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain. [-]
Plasmodium ovale malaria	Ovale malaria; Malariaby Plasmodium ovale	A malaria characaterized as a relatively mild form..[+] A malaria characaterized as a relatively mild form caused by a parasite Plasmodium ovale, which is characterized by tertian chills and febrile paroxysms, and that ends spontaneously. [-]
endomyocardial fibrosis	Obscure African cardiomyopathy (disorder); (Becker.. [+] Obscure African cardiomyopathy (disorder); (Becker's disease) or (obscure African cardiomyopathy); African endomyocardial fibrosis; Becker's disease; Endomyocardial sclerosis [-]	n_a
tinea unguium	Onychomycosis due to dermatophyte; cellulitis and .. [+] Onychomycosis due to dermatophyte; cellulitis and abscess; cellulitis and abscess of buttock; cellulitis and abscess of face; cellulitis and abscess of finger; cellulitis and abscess of finger and toe; cellulitis and abscess of gluteal region; cellulitis and abscess of trunk; cellulitis and abscess of upper arm and forearm; Dermatophytic onychia; dermatophytic onychomycosis; Dermatophytosis of nail; Tinea unguium [-]	A dermatophytosis that results_in fungal infection..[+] A dermatophytosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which cause separation of the nail plate from the nail bed and has_symptom thickening of subungueal area. Sometimes, white islands are seen on the external nail plates. These gradually coalesce until the entire nail plate is involved. [-]
paronychia	Onychia and paronychia of toe; Onychia and paronyc.. [+] Onychia and paronychia of toe; Onychia and paronychia of finger; fungal nail infection; Infected nailfold; paronychia inflammation [-]	A nail disease characterized by often-tender bacte..[+] A nail disease characterized by often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate. [-]
hairy tongue	Overgrowth of filiform papillae; Overgrowth of fil.. [+] Overgrowth of filiform papillae; Overgrowth of filiform papillae (disorder); Hairy Tongue [-]	n_a
Mobius syndrome	Oromandibular-limb hypogenesis spectrum; Moebius c.. [+] Oromandibular-limb hypogenesis spectrum; Moebius congenital oculofacial paralysis [-]	A facial nerve disease characterized by congenital..[+] A facial nerve disease characterized by congenital, uni- or bilateral, non-progressive facial weakness and limited abduction of the eye(s). [-]
cholestasis	Obstruction of bile duct; bile occlusion	n_a
patent foramen ovale	Ostium secundum type atrial septal defect; Atrial .. [+] Ostium secundum type atrial septal defect; Atrial septal defect within oval fossa; Defect, Patent or persistent, ostium secundum; foramen ovale patent; Persistent ostium secundum [-]	n_a
clonorchiasis	Oriental liver fluke disease	A parasitic helminthiasis infectious disease that ..[+] A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop. [-]
lacrimal duct obstruction	Obstruction of lacrimal ducts; Obstruction of lacr.. [+] Obstruction of lacrimal ducts; Obstruction of lacrimal canaliculus; Blocked lacrimal canaliculus [-]	n_a
bladder neck obstruction	Obstruction of bladder neck or vesicourethral orif.. [+] Obstruction of bladder neck or vesicourethral orifice [-]	n_a
Legg-Calve-Perthes disease	osteochondrosis of Legg-Calve-Perthes; Calve - Per.. [+] osteochondrosis of Legg-Calve-Perthes; Calve - Perthes' disease; Coxa plana; Juvenile osteochond-hip/pelvis; juvenile osteochondrosis of hip and pelvis; Juvenile osteochondrosis of hip and/or pelvis (disorder); Legg-Calve-Perthes symptom; Perthe's disease; Perthes disease; Pseudocoxalgia; pseudocoxalgia [-]	An osteochondrosis that results_in death and fract..[+] An osteochondrosis that results_in death and fracture located_in hip joint. [-]
46 XX gonadal dysgenesis	ovarian dysgenesis	A gonadal dysgenesis that is characterized by the ..[+] A gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female. [-]
FG syndrome	Opitz-Kaveggia syndrome; Keller syndrome	An X-linked disease characterized by retardation, ..[+] An X-linked disease characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern. [-]
Japanese spotted fever	oriental spotted fever; Rickettsia japonica spotte.. [+] oriental spotted fever; Rickettsia japonica spotted fever [-]	A spotted fever that has_material_basis_in Rickett..[+] A spotted fever that has_material_basis_in Rickettsia japonica, which is transmitted_by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has_symptom fever, has_symptom eschars, has_symptom regional adenopathy, and has_symptom rash on extremities. [-]
Carrion's disease	Oroya fever; Carrion disease	A bartonellosis that results_in infection located_..[+] A bartonellosis that results_in infection located_in endothelial cells or located_in red blood cells, has_material_basis_in Bartonella bacilliformis, which is transmitted_by sandflies of genus Lutzomyia. The infection has acute and chronic phases. The acute phase is characterized by severe hemolytic anemia and transient immunosuppression. The chronic phase is characterized by verruga peruana lesions which may ulcerate and bleed. [-]
infantile onset spinocerebellar ataxia	OHAHA SYNDROME	n_a
tooth agenesis	oligodontia; familial tooth agenesis; hypodontia; .. [+] oligodontia; familial tooth agenesis; hypodontia; selective tooth agenesis [-]	A tooth disease characterized by failure to develo..[+] A tooth disease characterized by failure to develop on or more missing teeth. [-]
familial visceral amyloidosis	OSTERTAG TYPE AMYLOIDOSIS; AMYLOIDOSIS, FAMILIAL R.. [+] OSTERTAG TYPE AMYLOIDOSIS; AMYLOIDOSIS, FAMILIAL RENAL; German type amyloidosis; systemic nonneuropathic amyloidosis [-]	An amyloidosis that is characterized by the abnorm..[+] An amyloidosis that is characterized by the abnormal deposition of amyloid proteins that is located_in the visceral organs, primarily the kidneys. [-]
tyrosinemia type II	Oculocutaneous tyrosinemia; Richner-Hanhart syndro.. [+] Oculocutaneous tyrosinemia; Richner-Hanhart syndrome [-]	A tyrosinemia that has_material_basis_in deficienc..[+] A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. [-]
spondyloepiphyseal dysplasia with congenital joint dislocations	Omani Type; CHONDRODYSPLASIA WITH MULTIPLE DISLOCA.. [+] Omani Type; CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS; CHST3-Related Skeletal Dysplasia; Humero-spinal dysostosis with congenital heart disease; Humerospinal Dysostosis; Humerospinal dysostosis; Kozlowski Celermajer Tink syndrome; Spondyloepiphyseal Dysplasia [-]	A spondyloepimetaphyseal dysplasia that is charact..[+] A spondyloepimetaphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints. [-]
urofacial syndrome	Ochoa syndrome; hydronephrosis with peculiar facia.. [+] Ochoa syndrome; hydronephrosis with peculiar facial expression [-]	An autosomal recessive disease that is characteriz..[+] An autosomal recessive disease that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding. [-]
focal hand dystonia	organic writer's cramp	A focal dystonia that affects a single muscle or s..[+] A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions. [-]
Jensen syndrome	opticoacoustic nerve atrophy with dementia	A syndrome that is characterized by sensorineural ..[+] A syndrome that is characterized by sensorineural hearing loss with onset in infancy, followed in adolescence by progressive optic nerve atrophy with loss of vision and in adulthood by progressive dementia. [-]
3MC syndrome	oculopalatoskeletal syndrome; craniofacial-ulnar-r.. [+] oculopalatoskeletal syndrome; craniofacial-ulnar-renal syndrome [-]	A syndrome characterized by blepharophimosis, blep..[+] A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes. [-]
Bruck syndrome	osteogenesis imperfecta with congenital joint cont.. [+] osteogenesis imperfecta with congenital joint contractures [-]	A syndrome characterized by a combination of multi..[+] A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta. [-]
blepharophimosis-intellectual disability syndrome, SBBYS type	Ohdo syndrome, SBBYS Variant; Say-Barber-Biesecker.. [+] Ohdo syndrome, SBBYS Variant; Say-Barber-Biesecker-Young-Simpson syndrome; SBBYSS [-]	n_a
agnathia-otocephaly complex	otocephaly; agnathia-holoprosencephaly-situs inver.. [+] otocephaly; agnathia-holoprosencephaly-situs inversus syndrome; dysgnathia complex agnathia-holoprosencephaly; holoprosencephaly-agnathia [-]	A physical disorder characterized by mandibular hy..[+] A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported. [-]
Joubert syndrome with orofaciodigital defect	OFD6; orofaciodigital syndrome VI; Varadi syndrome.. [+] orofaciodigital syndrome VI; OFD6; Varadi syndrome; Varadi-Papp syndrome [-]	A Joubert syndrome that is characterized by orofac..[+] A Joubert syndrome that is characterized by orofaciodigital defect. [-]
acrofacial dysostosis, Catania type	Opitz-Caltabiano syndrome; Opitz Mollica Sorge syn.. [+] Opitz-Caltabiano syndrome; Opitz Mollica Sorge syndrome [-]	n_a
Feingold syndrome	ODED syndrome; oculo-digito-esophageal-duodenal sy.. [+] ODED syndrome; oculo-digito-esophageal-duodenal syndrome; digital anomalies with short palpebral fissures and atresia of esophagus or duodenum; FGLDS; microcephaly-digital anomalies-normal intelligence syndrome; microcephaly-oculo-digito-esophageal-duodenal syndrome; MODED syndrome [-]	A syndrome characterized by variable combinations ..[+] A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. [-]
rainbow trout allergy	Oncorhynchus mykiss allergy	A fish allergy triggered by Oncorhynchus mykiss.
microcephalic osteodysplastic primordial dwarfism type I	osteodysplastic primordial dwarfism type I; brachy.. [+] osteodysplastic primordial dwarfism type I; brachymelic primordial dwarfism; cephaloskeletal dysplasia; low-birth-weight dwarfism with skeletal dysplasia; Taybi-Linder syndrome [-]	A microcephalic osteodysplastic primordial dwarfis..[+] A microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits. [-]
microcephalic osteodysplastic primordial dwarfism type II	osteodysplastic primordial dwarfism type II; Majew.. [+] osteodysplastic primordial dwarfism type II; Majewski osteodysplastic primordial dwarfism type II [-]	A microcephalic osteodysplastic primordial dwarfis..[+] A microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly. [-]
congenital central hypoventilation syndrome	Ondine curse; Ondine syndrome; CCHS; central conge.. [+] Ondine syndrome; Ondine curse; CCHS; central congenital hypoventilation syndrome; congenital central alveolar hypoventilation syndrome [-]	An autonomic nervous system disease characterized ..[+] An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes. [-]
Duane-radial ray syndrome	Okihiro syndrome; acrorenocular syndrome; DR syndr.. [+] Okihiro syndrome; acrorenocular syndrome; DR syndrome; Duane anomaly with radial ray abnormalities and deafness [-]	An autosomal dominant disease characterized by upp..[+] An autosomal dominant disease characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies and that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13. [-]
familial temporal lobe epilepsy 4	occipitotemporal lobe epilepsy and migraine with a.. [+] occipitotemporal lobe epilepsy and migraine with aura; EPOLM; ETL4 [-]	A temporal lobe epilepsy characterized by autosoma..[+] A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has_material_basis_in variation in the chromosome region 9q21-q22. [-]
microphthalmia with limb anomalies	OAS; ophthalmoacromelic syndrome; anophthalmia-syn.. [+] ophthalmoacromelic syndrome; OAS; anophthalmia-syndactyly syndrome; MLA; Waardenburg anophthalmia syndrome [-]	A syndrome that is characterized by autosomal rece..[+] A syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has_material_basis_in homozygous mutation in the SMOC1 gene on chromosome 14q24. [-]
leukoencephalopathy with vanishing white matter	ovarioleukodystrophy; CACH; childhood ataxia with .. [+] ovarioleukodystrophy; CACH; childhood ataxia with central nervous system hypomyelination; CLE; Cree leukoencephalopathy; vanishing white matter leukodystrophy; CACH/VWM [-]	A leukodystrophy characterized by variable neurolo..[+] A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood. [-]

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