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Disease	Synonyms	Description
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. [-]

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