Human Disease List
GET /api/human_diseases/?format=api&offset=1000&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1020&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=980&ordering=-identifier", "results": [ { "identifier": "Reynolds syndrome.", "acronym": "REYNS.", "accession": "DI-02850", "synonyms": "Primary biliary cirrhosis scleroderma Raynaud disease and telangiectasia.; ", "cross_references": "MeSH; D045745.", "definition": "A syndrome specifically associating limited cutaneous systemic sclerosis and primary biliary cirrhosis. It is characterized by liver disease, telangiectasia, abrupt onset of digital paleness or cyanosis in response to cold exposure or stress (Raynaud phenomenon), and variable features of scleroderma. The liver disease is characterized by pruritis, jaundice, hepatomegaly, increased serum alkaline phosphatase and positive serum mitochondrial autoantibodies, all consistent with primary biliary cirrhosis. ", "keywords": null }, { "identifier": "Rett syndrome congenital variant.", "acronym": "RTTCV.", "accession": "DI-02790", "synonyms": null, "cross_references": "MeSH; D015518.", "definition": "A severe neurodevelopmental disorder with features of classic Rett syndrome but earlier onset in the first months of life. Clinical features include progressive microcephaly, hypotonia, irresponsiveness and irritability in the neonatal period, intellectual disability, psychomotor regression and stereotypical movements. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Rett syndrome.", "acronym": "RTT.", "accession": "DI-00999", "synonyms": "Autism-dementia-ataxia-loss of purposeful hand use.; Rett disorder.; Rett syndrome preserved speech variant.; Rett syndrome Zappella variant.; RTS.; ", "cross_references": "MeSH; D015518.", "definition": "An X-linked dominant neurodevelopmental disorder, and one of the most common causes of intellectual disability in females. Patients appear to develop normally until 6 to 18 months of age, then gradually lose speech and purposeful hand movements, and develop microcephaly, seizures, autism, ataxia, intellectual disability and stereotypic hand movements. After initial regression, the condition stabilizes and patients usually survive into adulthood. ", "keywords": "KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; " }, { "identifier": "Retinoschisis juvenile X-linked 1.", "acronym": "XLRS1.", "accession": "DI-02450", "synonyms": "RS1.; ", "cross_references": "MeSH; D041441.", "definition": "A vitreo-retinal dystrophy characterized by macular pathology and by splitting of the superficial layer of the retina. Macular changes are present in almost all cases. In the fundi, radially oriented intraretinal foveomacular cysts are seen in a spoke-wheel configuration, with the absence of foveal reflex in most cases. In addition, approximately half of cases have bilateral peripheral retinoschisis in the inferotemporal part of the retina. Aside from the typical fundus appearance, strabismus, nystagmus, axial hyperopia, defective color vision and foveal ectopy can be present. The most important complications are vitreous hemorrhage, retinal detachment, and neovascular glaucoma. ", "keywords": null }, { "identifier": "Retinitis punctata albescens.", "acronym": "RPA.", "accession": "DI-01639", "synonyms": null, "cross_references": "MeSH; D012164.", "definition": "A form of fleck retina disease characterized by aggregation of white flecks posteriorly in the retina, causing night blindness and delayed dark adaptation. It differs from fundus albipunctatus in being progressive and evolving to generalized atrophy of the retina. ", "keywords": null }, { "identifier": "Retinitis pigmentosa, X-linked, and sinorespiratory infections with or without deafness.", "acronym": "RPSRDF.", "accession": "DI-00997", "synonyms": "Retinitis pigmentosa and sinorespiratory infections with or without deafness.; RPDSI.; X-linked retinitis pigmentosa with deafness and sinorespiratory infections.; ", "cross_references": "MeSH; D002925.", "definition": "A disease characterized by the association of retinitis pigmentosa with recurrent upper and lower airway infections. Some patients also develop progressive hearing loss. ", "keywords": "KW-1186:Ciliopathy.; " }, { "identifier": "Retinitis pigmentosa with or without skeletal anomalies.", "acronym": "RPSKA.", "accession": "DI-05006", "synonyms": "Metaphyseal chondrodysplasia with retinitis pigmentosa.; ", "cross_references": "MeSH; D012174.", "definition": "An autosomal recessive disease characterized by retinal degeneration, brachydactyly, short stature, craniofacial dysmorphism, and neurologic defects. Retinal defects are consistent with retinitis pigmentosa in most patients. Neurologic manifestations include mild-to-moderate intellectual disability and psychomotor retardation. ", "keywords": "KW-0242:Dwarfism.; KW-0682:Retinitis pigmentosa.; KW-0991:Intellectual disability.; " }, { "identifier": "Retinitis pigmentosa and erythrocytic microcytosis.", "acronym": "RPEM.", "accession": "DI-04725", "synonyms": null, "cross_references": "MeSH; D012174.", "definition": "An autosomal recessive disease characterized by retinitis pigmentosa, red blood cell microcytosis and anisocytosis with mild anemia. ", "keywords": "KW-0682:Retinitis pigmentosa.; " }, { "identifier": "Retinitis pigmentosa 97.", "acronym": "RP97.", "accession": "DI-06704", "synonyms": null, "cross_references": "MeSH; D012174.", "definition": "An autosomal dominant form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. RP97 is characterized by onset of night blindness and visual field defects in the first decade of life. ", "keywords": "KW-0682:Retinitis pigmentosa.; " }, { "identifier": "Retinitis pigmentosa 96.", "acronym": "RP96.", "accession": "DI-06581", "synonyms": null, "cross_references": "MeSH; D012174.", "definition": "An autosomal dominant form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. ", "keywords": "KW-0682:Retinitis pigmentosa.; " }, { "identifier": "Retinitis pigmentosa 95.", "acronym": "RP95.", "accession": "DI-06515", "synonyms": null, "cross_references": "MeSH; D012174.", "definition": "A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. RP95 is an autosomal recessive form characterized by pale optic disks, attenuation of retinal vessels, and atrophy of the retinal pigment epithelium with bone-spicule pigmentation. ", "keywords": "KW-0682:Retinitis pigmentosa.; " }, { "identifier": "Retinitis pigmentosa 94, variable age at onset, autosomal recessive.", "acronym": "RP94.", "accession": "DI-06495", "synonyms": null, "cross_references": "MeSH; D012174.", "definition": "A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. ", "keywords": "KW-0682:Retinitis pigmentosa.; " }, { "identifier": "Retinitis pigmentosa 93.", "acronym": "RP93.", "accession": "DI-06401", "synonyms": null, "cross_references": "MeSH; D012174.", "definition": "A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. RP93 is an autosomal recessive, mild to moderate form, with onset in the second or third decade of life. ", "keywords": "KW-0682:Retinitis pigmentosa.; " }, { "identifier": "Retinitis pigmentosa 92.", "acronym": "RP92.", "accession": "DI-06270", "synonyms": null, "cross_references": "MeSH; D012174.", "definition": "A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. RP92 is an autosomal recessive, mild form with onset of night blindness and vision loss in the third to sixth decades of life. ", "keywords": "KW-0682:Retinitis pigmentosa.; " }, { "identifier": "Retinitis pigmentosa 91.", "acronym": "RP91.", "accession": "DI-06234", "synonyms": "BCAMD.; Macular dystrophy, benign concentric annular.; Macular dystrophy, concentric annular.; MCDCA.; ", "cross_references": "MeSH; D012174.", "definition": "A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. RP91 is an autosomal dominant form with bone-spicule pigmentation, attenuation of retinal vessels, and optic disk pallor on funduscopy. Patients may also experience early macular involvement, with photophobia and reduced visual acuity, and some show a bull's eye pattern of macular atrophy. ", "keywords": "KW-0682:Retinitis pigmentosa.; " }, { "identifier": "Retinitis pigmentosa 90.", "acronym": "RP90.", "accession": "DI-05910", "synonyms": null, "cross_references": "MeSH; D012174.", "definition": "A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. RP90 is an autosomal recessive form. ", "keywords": "KW-0682:Retinitis pigmentosa.; " }, { "identifier": "Retinitis pigmentosa 9.", "acronym": "RP9.", "accession": "DI-00976", "synonyms": null, "cross_references": "MeSH; D012174.", "definition": "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. ", "keywords": "KW-0682:Retinitis pigmentosa.; " }, { "identifier": "Retinitis pigmentosa 89.", "acronym": "RP89.", "accession": "DI-05879", "synonyms": null, "cross_references": "MeSH; D012174.", "definition": "A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. RP89 is an autosomal dominant form associated with features of ciliopathy, including postaxial polydactyly, and renal and hepatic disease. ", "keywords": "KW-0682:Retinitis pigmentosa.; KW-1186:Ciliopathy.; " }, { "identifier": "Retinitis pigmentosa 88.", "acronym": "RP88.", "accession": "DI-05776", "synonyms": null, "cross_references": "MeSH; D012174.", "definition": "A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. RP88 is an autosomal recessive form. ", "keywords": "KW-0682:Retinitis pigmentosa.; " }, { "identifier": "Retinitis pigmentosa 87 with choroidal involvement.", "acronym": "RP87.", "accession": "DI-05716", "synonyms": null, "cross_references": "MeSH; D012174.", "definition": "A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. RP87 is an autosomal dominant form characterized by a slowly progressive visual disturbance accompanied by extensive choroid/retinal atrophy that mimics certain aspects of choroideremia. Disease severity and age of onset are variable, and some carriers are unaffected. ", "keywords": "KW-0682:Retinitis pigmentosa.; " } ] }