{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1320&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1280&ordering=-synonyms","results":[{"identifier":"Cone-rod dystrophy 11.","acronym":"CORD11.","accession":"DI-00325","synonyms":null,"cross_references":"MeSH; D000071700.","definition":"An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. ","keywords":"KW-0182:Cone-rod dystrophy.; "},{"identifier":"Cone-rod dystrophy 12.","acronym":"CORD12.","accession":"DI-00326","synonyms":null,"cross_references":"MeSH; D000071700.","definition":"An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. ","keywords":"KW-0182:Cone-rod dystrophy.; "},{"identifier":"Cone-rod dystrophy 13.","acronym":"CORD13.","accession":"DI-00323","synonyms":null,"cross_references":"MeSH; D000071700.","definition":"An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. ","keywords":"KW-0182:Cone-rod dystrophy.; "},{"identifier":"Cone-rod dystrophy 14.","acronym":"CORD14.","accession":"DI-05820","synonyms":null,"cross_references":"MeSH; D000071700.","definition":"An autosomal dominant form of cone-rod dystrophy, a retinal disease characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. ","keywords":"KW-0182:Cone-rod dystrophy.; "},{"identifier":"Cone-rod dystrophy 15.","acronym":"CORD15.","accession":"DI-02944","synonyms":null,"cross_references":"MeSH; D000071700.","definition":"An autosomal recessive retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. ","keywords":"KW-0182:Cone-rod dystrophy.; "},{"identifier":"Boomerang dysplasia.","acronym":"BOOMD.","accession":"DI-01289","synonyms":null,"cross_references":"MeSH; D010009.","definition":"A perinatal lethal osteochondrodysplasia characterized by absence or underossification of the limb bones and vertebrae. Patients manifest dwarfism with short, bowed, rigid limbs and characteristic facies. Boomerang dysplasia is distinguished from atelosteogenesis on the basis of a more severe defect in mineralization, with complete absence of ossification in some limb elements and vertebral segments. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Cone-rod dystrophy 18.","acronym":"CORD18.","accession":"DI-03861","synonyms":null,"cross_references":"MeSH; D000071700.","definition":"A form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. ","keywords":"KW-0182:Cone-rod dystrophy.; "},{"identifier":"Cone-rod dystrophy 19.","acronym":"CORD19.","accession":"DI-04129","synonyms":null,"cross_references":"MeSH; D000071700.","definition":"A form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. ","keywords":"KW-0182:Cone-rod dystrophy.; "},{"identifier":"Bosley-Salih-Alorainy syndrome.","acronym":"BSAS.","accession":"DI-01290","synonyms":null,"cross_references":"MeSH; D009421.","definition":"A disease characterized by horizontal gaze abnormalities, deafness, facial weakness, vascular malformations of the internal carotid arteries and cardiac outflow trac. Some patients manifest intellectual disability and autism spectrum disorder. Affected individuals do not suffer from central hypoventilation. ","keywords":null},{"identifier":"Cone-rod dystrophy 20.","acronym":"CORD20.","accession":"DI-04189","synonyms":null,"cross_references":"MeSH; D058499.","definition":"A form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. ","keywords":"KW-0182:Cone-rod dystrophy.; "},{"identifier":"Anterior segment dysgenesis 5.","acronym":"ASGD5.","accession":"DI-02157","synonyms":null,"cross_references":"MeSH; D005124.","definition":"A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ","keywords":null},{"identifier":"Cone-rod dystrophy 22.","acronym":"CORD22.","accession":"DI-06228","synonyms":null,"cross_references":"MeSH; D058499.","definition":"An autosomal recessive form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. ","keywords":"KW-0182:Cone-rod dystrophy.; "},{"identifier":"Cone-rod dystrophy 23.","acronym":"CORD23.","accession":"DI-06596","synonyms":null,"cross_references":"MeSH; D000071700.","definition":"An autosomal recessive form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. ","keywords":"KW-0182:Cone-rod dystrophy.; "},{"identifier":"Cone-rod dystrophy 24.","acronym":"CORD24.","accession":"DI-06663","synonyms":null,"cross_references":"MeSH; D000071700.","definition":"An autosomal dominant form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. ","keywords":"KW-0182:Cone-rod dystrophy.; "},{"identifier":"Cone-rod dystrophy 3.","acronym":"CORD3.","accession":"DI-00319","synonyms":null,"cross_references":"MeSH; D058499.","definition":"An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. ","keywords":"KW-0182:Cone-rod dystrophy.; "},{"identifier":"Cone-rod dystrophy 5.","acronym":"CORD5.","accession":"DI-00320","synonyms":null,"cross_references":"MeSH; D058499.","definition":"An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. ","keywords":"KW-0182:Cone-rod dystrophy.; "},{"identifier":"Cone-rod dystrophy 6.","acronym":"CORD6.","accession":"DI-00321","synonyms":null,"cross_references":"MeSH; D058499.","definition":"An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. ","keywords":"KW-0182:Cone-rod dystrophy.; "},{"identifier":"Cone-rod dystrophy 7.","acronym":"CORD7.","accession":"DI-00322","synonyms":null,"cross_references":"MeSH; D000071700.","definition":"An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. ","keywords":"KW-0182:Cone-rod dystrophy.; "},{"identifier":"Cone-rod dystrophy 9.","acronym":"CORD9.","accession":"DI-02490","synonyms":null,"cross_references":"MeSH; D058499.","definition":"An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. ","keywords":"KW-0182:Cone-rod dystrophy.; "},{"identifier":"Immunodeficiency 36 with lymphoproliferation.","acronym":"IMD36.","accession":"DI-04215","synonyms":null,"cross_references":"MeSH; D007153.","definition":"A primary immunodeficiency characterized by impaired B-cell function, hypogammaglobulinemia and recurrent infections. ","keywords":null}]}