{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5860&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5820&ordering=-identifier","results":[{"identifier":"Cataract 5, multiple types.","acronym":"CTRCT5.","accession":"DI-02507","synonyms":"CAM.; Cataract Marner type.; CTM.; ","cross_references":"MeSH; D002386.","definition":"An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT5 includes infantile, lamellar, zonular, nuclear, anterior polar, stellate, and Marner-type cataracts, among others. Finger malformation is observed in some kindreds. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Cataract 50 with or without glaucoma.","acronym":"CTRCT50.","accession":"DI-06610","synonyms":null,"cross_references":"MeSH; D002386.","definition":"A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT50 is an autosomal dominant form characterized by early onset. Affected individuals may also exhibit high-tension glaucoma and variable anterior segment defects. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Cataract 4, multiple types.","acronym":"CTRCT4.","accession":"DI-01456","synonyms":"Aculeiform cataract.; CACA.; Cataract 4, multiple types, with or without microcornea.; CCA3.; CCP.; Congenital cataract blue dot type 3.; Congenital cataract cerulean type 3.; Congenital non-nuclear polymorphic cataract.; Crystalline aculeiform cataract.; PCC.; Punctate, progressive juvenile-onset, cataract.; ","cross_references":"MeSH; D002386.","definition":"An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT4 includes crystalline aculeiform, congenital cerulean and non-nuclear polymorphic cataracts, among others. Crystalline aculeiform cataract is characterized by fiberglass-like or needle-like crystals projecting in different directions, through or close to the axial region of the lens. Non- nuclear polymorphic cataract is a partial opacity with variable location between the fetal nucleus of the lens and the equator. The fetal nucleus is normal. The opacities are irregular and look similar to a bunch of grapes and may be present simultaneously in different lens layers. Congenital cerulean cataract is characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Cataract 49.","acronym":"CTRCT49.","accession":"DI-06237","synonyms":"Cataract 49, posterior.; ","cross_references":"MeSH; D002386.","definition":"A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT49 is an autosomal dominant form characterized by congenital cataract located in the posterior region of the lens. Visual impairment has onset in early childhood. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Cataract 48.","acronym":"CTRCT48.","accession":"DI-05553","synonyms":null,"cross_references":"MeSH; D002386.","definition":"A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT48 is an autosomal recessive form characterized by infantile or early-childhood onset. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Cataract 47.","acronym":"CTRCT47.","accession":"DI-01327","synonyms":"Cataract, juvenile, with microcornea.; Cataract, juvenile, with microcornea and glucosuria.; Cataract 47, juvenile, with microcornea.; CJMG.; ","cross_references":"MeSH; D006030.","definition":"A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT47 is characterized by the association of cataract with microcornea and renal glucosuria. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. Renal glucosuria is defined by elevated glucose level in the urine without hyperglycemia and without evidence of morphological renal anomalies. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy.","acronym":"CTRCT46.","accession":"DI-04739","synonyms":"Cataract, juvenile, Hutterite type.; Cataract Hutterite type.; ","cross_references":"MeSH; D002386.","definition":"A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT46 can be associated with variable onset of a severe form of arrhythmic cardiomyopathy resulting in sudden cardiac death. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Cataract 45.","acronym":"CTRCT45.","accession":"DI-04671","synonyms":null,"cross_references":"MeSH; D002386.","definition":"An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Cataract 44.","acronym":"CTRCT44.","accession":"DI-04502","synonyms":"Cataract and hypotrichosis.; ","cross_references":"MeSH; D002386.","definition":"An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Cataract 43.","acronym":"CTRCT43.","accession":"DI-04361","synonyms":null,"cross_references":"MeSH; D002386.","definition":"An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Cataract 42.","acronym":"CTRCT42.","accession":"DI-04171","synonyms":null,"cross_references":"MeSH; D002386.","definition":"An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Cataract 41.","acronym":"CTRCT41.","accession":"DI-04010","synonyms":"Congenital nuclear cataract 41.; ","cross_references":"MeSH; D002386.","definition":"An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Cataract 40.","acronym":"CTRCT40.","accession":"DI-02922","synonyms":"Cataract 40 with or without microcornea.; CCT.; Congenital total cataract with posterior sutural opacities in heterozygotes.; X-linked congenital cataract.; ","cross_references":"MeSH; D002386.","definition":"An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT40 manifests as a congenital nuclear opacity with severe visual impairment in affected males. Heterozygous females have suture cataracts and only slight reduction in vision. In some cases, cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Cataract 3, multiple types.","acronym":"CTRCT3.","accession":"DI-01392","synonyms":"CCA2.; Congenital cataract blue dot type 2.; Congenital cataract cerulean type 2.; CSPC.; Sutural cataract with punctate and cerulean opacities.; ","cross_references":"MeSH; D002386.","definition":"An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT3 includes congenital cerulean and sutural cataract with punctate and cerulean opacities, among others. Cerulean cataract is characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract. Sutural cataract with punctate and cerulean opacities is characterized by white opacification around the anterior and posterior Y sutures, and grayish and bluish, spindle shaped, oval punctate and cerulean opacities of various sizes arranged in lamellar form. The spots are more concentrated towards the peripheral layers and do not delineate the embryonal or fetal nucleus. Phenotypic variation with respect to the size and density of the sutural opacities as well as the number and position of punctate and cerulean spots is observed among affected subjects. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Cataract 39, multiple types.","acronym":"CTRCT39.","accession":"DI-03806","synonyms":null,"cross_references":"MeSH; D002386.","definition":"An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT39 includes lamellar, anterior polar, and complete cataracts. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Cataract 38.","acronym":"CTRCT38.","accession":"DI-03473","synonyms":"Autosomal recessive congenital cataract 5.; CATC5.; ","cross_references":"MeSH; D002386.","definition":"An opacification of the crystalline lens of the eye becoming evident at birth. It frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Cataract 36.","acronym":"CTRCT36.","accession":"DI-03070","synonyms":"Autosomal recessive congenital cataract 4.; CATC4.; ","cross_references":"MeSH; D002386.","definition":"An opacification of the crystalline lens of the eye becoming evident at birth. It frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Cataract 34, multiple types.","acronym":"CTRCT34.","accession":"DI-04893","synonyms":"Cataract, autosomal recessive congenital 3.; Cataract 34, multiple types, with or without microcornea.; CATC3.; ","cross_references":"MeSH; D002386.","definition":"An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Cataract 33, multiple types.","acronym":"CTRCT33.","accession":"DI-01235","synonyms":"Cortical cataract 33.; Cortical juvenile-onset cataract.; ","cross_references":"MeSH; D002386.","definition":"An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT33 has juvenile-onset and the opacities are restricted to the cortex of the lens, not involving the nucleus. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Cataract 31, multiple types.","acronym":"CTRCT31.","accession":"DI-02183","synonyms":"CPP3.; CTPP3.; Posterior polar cataract 3.; ","cross_references":"MeSH; D002386.","definition":"An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT31 includes posterior polar, progressive posterior subcapsular, nuclear, and anterior subcapsular cataracts. ","keywords":"KW-0898:Cataract.; "}]}