{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=880","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=840","results":[{"identifier":"Cataract 23, multiple types.","acronym":"CTRCT23.","accession":"DI-01874","synonyms":"Isolated microphthalmia with cataract 4.; Lamellar cataract 23.; MCOPCT4.; ","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. CTRCT23 is a zonular cataract. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Cataract 2, multiple types.","acronym":"CTRCT2.","accession":"DI-01425","synonyms":"Cataract 2, multiple types, with or without microcornea.; Cataract Coppock-like.; Cataract embryonic nuclear.; CCL.; Variable zonular pulverulent 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. CTRCT2 includes Coppock-like cataract, among others. Coppock-like cataract is a congenital pulverulent disk-like opacity involving the embryonic nucleus with many tiny white dots in the lamellar portion of the lens. It is usually bilateral and dominantly inherited. In some cases, CTRCT2 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 30, multiple types.","acronym":"CTRCT30.","accession":"DI-03825","synonyms":"Pulverulent cataract 30.; ","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 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.; "},{"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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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.; "}]}