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Disease	Synonyms	Description
orofacial cleft 7	Zlotogora-Ogur syndrome	An orofacial cleft that has_material_basis_in by h..[+] An orofacial cleft that has_material_basis_in by homozygous mutation in the PVRL1 gene on chromosome 11q23. [-]
orofacial cleft 9	nonsyndromic cleft lip with or without cleft palat.. [+] nonsyndromic cleft lip with or without cleft palate 9 [-]	An orofacial cleft that has_material_basis_in vari..[+] An orofacial cleft that has_material_basis_in variation in the chromosome region 13q33.1-q34. [-]
orofacial cleft 10	nonsyndromic cleft lip with or without cleft palat.. [+] nonsyndromic cleft lip with or without cleft palate 10 [-]	An orofacial cleft that has_material_basis_in muta..[+] An orofacial cleft that has_material_basis_in mutation in the SUMO1 gene on chromosome 2q33. [-]
orofacial cleft 11	nonsyndromic cleft lip with or without cleft palat.. [+] nonsyndromic cleft lip with or without cleft palate 11 [-]	An orofacial cleft that has_material_basis_in hete..[+] An orofacial cleft that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22. [-]
orofacial cleft 12	nonsyndromic cleft lip with or without cleft palat.. [+] nonsyndromic cleft lip with or without cleft palate 12 [-]	An orofacial cleft that has_material_basis_in vari..[+] An orofacial cleft that has_material_basis_in variation in the chromosome region 8q24.3. [-]
ovarian dysgenesis 2		A 46 XX gonadal dysgenesis that has_material_basis..[+] A 46 XX gonadal dysgenesis that has_material_basis_in mutation in the BMP15 gene on chromosome Xp11. [-]
oculocutaneous albinism type VI		An oculocutaneous albinism that has_material_basis..[+] An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of the SLC24A5 gene on chromosome 15q21.1. [-]
optic disc anomalies with retinal and/or macular dystrophy		A microphthalmia that has_material_basis_in homozy..[+] A microphthalmia that has_material_basis_in homozygous mutation in the SIX6 gene on chromosome 14q23. [-]
otospondylomegaepiphyseal dysplasia, autosomal dominant		An osteochondrodysplasia that is characterized by ..[+] An osteochondrodysplasia that is characterized by by autosomal dominant inheritance of mutations in the COL11A2 gene. [-]
Opitz GBBB syndrome	Opitz GBBB syndrome type I; Opitz G/BBB Syndrome	A syndrome that is a congenital midline malformati..[+] A syndrome that is a congenital midline malformation syndrome that is characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects and that has_material_basis_in mutation in the MID1 gene on chromosome Xp22. [-]
occupational asthma		An environmental induced asthma that is characteri..[+] An environmental induced asthma that is characterized by a variable airflow limitation due to exposure to inhaled irritants in the workplace. [-]
optic atrophy 12		An optic atrophy that is characterized by slowly p..[+] An optic atrophy that is characterized by slowly progressive visual impairment with onset usually in the first decade and that has_material_basis_in heterozygous mutation in the AFG3L2 gene on chromosome 18p11. [-]
omodysplasia 1		An omodysplasia that is characterized by severe co..[+] An omodysplasia that is characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance and that has_material_basis_in homozygous or compound heterozygous mutation in the GPC6 gene on chromosome 13q32. [-]
omodysplasia 2		An omodysplasia that is characterized by shortened..[+] An omodysplasia that is characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies and that has_material_basis_in heterozygous mutation in the FZD2 gene on chromosome 17q21. [-]
ocular motor apraxia, Cogan type		An eye disease that is characterized by defective ..[+] An eye disease that is characterized by defective or absent horizontal voluntary eye movements, and defective or absent horizontal ocular attraction movements. [-]
osteosclerotic metaphyseal dysplasia		A metaphyseal dysplasia that is characterized by d..[+] A metaphyseal dysplasia that is characterized by distinctive radiographic changes, including osteosclerosis localized predominantly to the metaphyses of the long bones and that has_material_basis_in homozygous mutation in the LRRK1 gene on chromosome 15q26. [-]
oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2		An IDH-mutant, and 1p/19q-codeleted oligodendrogli..[+] An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as a well differentiated tumor lacking anaplastic features (brisk mitotic activity, microvascular proliferation, necrosis). [-]
oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3		An IDH-mutant, and 1p/19q-codeleted oligodendrogli..[+] An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as grade 3 tumors associated with a more rapid growth. Grade 3 tumors appear to have abnormalities on chromosomes 9 or 10, along with unusual amounts of growth factors and proteins, which are thought to contribute to the more rapid growth of these gliomas. [-]
oculopharyngodistal myopathy		A myopathy that is characterized by progressive ex..[+] A myopathy that is characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities. [-]
oculopharyngodistal myopathy 1		An oculopharyngodistal myopathy that is characteri..[+] An oculopharyngodistal myopathy that is characterized by adult-onset ptosis, external ophthalmoplegia, facial muscle weakness, distal limb muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia and dysarthria, and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22. [-]
oculopharyngodistal myopathy 2		An oculopharyngodistal myopathy that is characteri..[+] An oculopharyngodistal myopathy that is characterized by onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life, and that has_material_basis_in heterozygous trinucleotide repeat expansion (GGC(n)) in the 5-prime untranslated region (UTR) of the GIPC1 gene on chromosome 19p13. [-]
oculopharyngodistal myopathy 3		An oculopharyngodistal myopathy that is characteri..[+] An oculopharyngodistal myopathy that is characterized by progressive muscle weakness with ocular, facial, pharyngeal, and distal limb involvement, resulting in dysarthria and gait difficulties and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the NOTCH2NLC gene on chromosome 1q21. [-]
oculopharyngodistal myopathy 4		An oculopharyngodistal myopathy that is characteri..[+] An oculopharyngodistal myopathy that is characterized by progressive ptosis, ophthalmoparesis, facial and masseter weakness, and muscle weakness of the distal limbs and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the RILPL1 gene on chromosome 12q24. [-]
oxoglutarate dehydrogenase deficiency	Oxoglutaric aciduria; alpha-ketoglutarate dehydrog.. [+] Oxoglutaric aciduria; alpha-ketoglutarate dehydrogenase deficiency [-]	An amino acid metabolic disorder that is character..[+] An amino acid metabolic disorder that is characterized by infantile and pediatric onset basal ganglia-associated movement disorders, hypotonia, developmental delays, ataxia, and seizures and that has_material_basis_in homozygous mutation in the oxoglutarate dehydrogenase gene (OGDH) on chromosome 7p13. [-]
organophosphate-induced delayed polyneuropathy	organophosphate induced delayed polyneuropathy	An inflammatory and toxic neuropathy that is chara..[+] An inflammatory and toxic neuropathy that is characaterized by a collection of neuropsychological symptoms associated with repeated organophosphate pesticide exposure as well as nerve agent exposure. Symptoms can appear weeks after exposure and include muscle weakness, anxiety, depression, psychosis as well as cognitive and memory deficits. [-]
ocular albinism with sensorineural deafness	autosomal recessive Waardenburg syndrome type 2 wi.. [+] autosomal recessive Waardenburg syndrome type 2 with ocular albinism; WS2-OA; digenic Waardenburg syndrome/albinism; digenic Waardenburg syndrome/ocular albinism [-]	An ocular albinism that is characterized by deafne..[+] An ocular albinism that is characterized by deafness and vestibular dysfunction and has_material_basis_in digenic inheritane of a mutation in the transcription factor gene MITF on chromosome 3p13 and in the tyrosinase TYR gene on chromosome 11q14.3 that MITF regulates. [-]
osteogenesis imperfecta type 1	OI1; osteogenesis imperfecta type I	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	OI7; osteogenesis imperfecta type VII	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	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 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 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 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. [-]

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