Human Disease List
GET /api/human_diseases/?format=api&offset=5420&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5440&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5400&ordering=-identifier", "results": [ { "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 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 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 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 21.", "acronym": "CORD21.", "accession": "DI-04505", "synonyms": "Retinal dystrophy with early macular involvement.; ", "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": "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": "Cone-rod dystrophy 2.", "acronym": "CORD2.", "accession": "DI-00318", "synonyms": "Cone-rod retinal dystrophy 2.; CRD2.; ", "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 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": "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 16.", "acronym": "CORD16.", "accession": "DI-03355", "synonyms": "Retinal dystrophy with early macular involvement.; ", "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 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": "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 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 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 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 10.", "acronym": "CORD10.", "accession": "DI-00324", "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 dystrophy retinal 3B.", "acronym": "RCD3B.", "accession": "DI-00316", "synonyms": "Cone dystrophy with night blindness and supernormal rod responses KCNV2-related.; Cone dystrophy with supernormal rod electroretinogram.; ", "cross_references": "MeSH; D058499.", "definition": "A rare form of cone dystrophy associated with supernormal rod responses. The disorder is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision. At an early age, the retina shows subtle depigmentation at the macula and, later, more obvious areas of atrophy. ", "keywords": null }, { "identifier": "Cone dystrophy, retinal 3A.", "acronym": "RCD3A.", "accession": "DI-00315", "synonyms": "Cone dystrophy with night blindness and supernormal rod responses.; Cone dystrophy with supernormal rod electroretinogram.; ", "cross_references": "MeSH; D058499.", "definition": "A rare form of cone dystrophy associated with supernormal rod responses. The disorder is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision. At an early age, the retina shows subtle depigmentation at the macula and, later, more obvious areas of atrophy. ", "keywords": null }, { "identifier": "Cone dystrophy 5.", "acronym": "COD5.", "accession": "DI-02905", "synonyms": "Cone dystrophy 5 X-linked.; ", "cross_references": "MeSH; D058499.", "definition": "An X-linked cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs. ", "keywords": null }, { "identifier": "Cone dystrophy 4.", "acronym": "COD4.", "accession": "DI-02491", "synonyms": null, "cross_references": "MeSH; D058499.", "definition": "An early-onset cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs. ", "keywords": null } ] }