{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5920&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5880&ordering=synonyms","results":[{"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":"Short-rib thoracic dysplasia 20 with polydactyly.","acronym":"SRTD20.","accession":"DI-05203","synonyms":null,"cross_references":"MeSH; D012779.","definition":"A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. ","keywords":"KW-1186:Ciliopathy.; "},{"identifier":"Short-rib thoracic dysplasia 21 without polydactyly.","acronym":"SRTD21.","accession":"DI-06195","synonyms":null,"cross_references":"MeSH; D012779.","definition":"A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. ","keywords":"KW-1186:Ciliopathy.; "},{"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 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":"Short-rib thoracic dysplasia 7/20 with polydactyly, digenic.","acronym":"SRTD7/20.","accession":"DI-05258","synonyms":null,"cross_references":"MeSH; D012779.","definition":"A digenic form of short-rib thoracic dysplasia caused by double heterozygosity for a mutation in the WDR35 gene and a mutation in the INTU gene. Short-rib thoracic dysplasia is part of a group of ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. ","keywords":"KW-1186:Ciliopathy.; "},{"identifier":"Short stature, oligodontia, dysmorphic facies, and motor delay.","acronym":"SOFM.","accession":"DI-06060","synonyms":null,"cross_references":"MeSH; D000015.","definition":"An autosomal recessive disorder with phenotypic variability. The main clinical features include endosteal hyperostosis, short stature, oligodontia, mild facial dysmorphisms, and delayed motor development. Some patients show progeroid features. ","keywords":"KW-0242:Dwarfism.; "},{"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.; "},{"identifier":"Shukla-Vernon syndrome.","acronym":"SHUVER.","accession":"DI-05604","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An X-linked neurodevelopmental disorder manifesting in affected males with intellectual and learning disability, motor and language delay, autism spectrum disorder, attention deficit and hyperactivity disorder, and dysmorphic features. Some patients may have seizures and/or cerebellar atrophy on brain imaging. Carrier females may have mild disease manifestations. ","keywords":"KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "},{"identifier":"Shwachman-Diamond syndrome 1.","acronym":"SDS1.","accession":"DI-02303","synonyms":null,"cross_references":"MeSH; D010188.","definition":"A form of Shwachman-Diamond syndrome, a disorder characterized by hematopoietic abnormalities, exocrine pancreatic dysfunction, and skeletal dysplasia. Intermittent or chronic neutropenia is the most common hematological manifestation, followed by anemia and thrombocytopenia. Some patients progress to bone marrow failure, myelodysplastic syndrome and malignant transformation, with acute myelogenous leukemia being the most common. Exocrine pancreatic dysfunction is generally the first presenting symptom in infancy. Short stature and metaphyseal dysplasia are the most frequent skeletal manifestations. SDS1 inheritance is autosomal recessive. ","keywords":null},{"identifier":"Shwachman-Diamond syndrome 2.","acronym":"SDS2.","accession":"DI-05230","synonyms":null,"cross_references":"MeSH; D010188.","definition":"A form of Shwachman-Diamond syndrome, a disorder characterized by hematopoietic abnormalities, exocrine pancreatic dysfunction, and skeletal dysplasia. Intermittent or chronic neutropenia is the most common hematological manifestation, followed by anemia and thrombocytopenia. Some patients progress to bone marrow failure, myelodysplastic syndrome and malignant transformation, with acute myelogenous leukemia being the most common. Exocrine pancreatic dysfunction is generally the first presenting symptom in infancy. Short stature and metaphyseal dysplasia are the most frequent skeletal manifestations. SDS2 inheritance is autosomal recessive. ","keywords":null},{"identifier":"Sialidosis.","acronym":"SIALIDOSIS.","accession":"DI-02304","synonyms":null,"cross_references":"MedGen; C1850510.","definition":"Lysosomal storage disease occurring as two types with various manifestations. Type 1 sialidosis (cherry red spot-myoclonus syndrome or normosomatic type) is late-onset and it is characterized by the formation of cherry red macular spots in childhood, progressive debilitating myoclonus, insiduous visual loss and rarely ataxia. The diagnosis can be confirmed by the screening of the urine for sialyloligosaccharides. Type 2 sialidosis (also known as dysmorphic type) occurs as several variants of increasing severity with earlier age of onset. It is characterized by the presence of abnormal somatic features including coarse facies and dysostosis multiplex, vertebral deformities, intellectual disability, cherry-red spot/myoclonus, sialuria, cytoplasmic vacuolation of peripheral lymphocytes, bone marrow cells and conjunctival epithelial cells. ","keywords":null},{"identifier":"Retinitis pigmentosa 86.","acronym":"RP86.","accession":"DI-05674","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. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP86 is an autosomal recessive form. ","keywords":"KW-0682:Retinitis pigmentosa.; "},{"identifier":"Retinitis pigmentosa 85.","acronym":"RP85.","accession":"DI-05496","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. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP85 is an autosomal recessive form manifesting as early-onset progressive difficulty to adapt in dim light and gradually decreasing visual acuity in both eyes. ","keywords":"KW-0682:Retinitis pigmentosa.; "},{"identifier":"Retinitis pigmentosa 84.","acronym":"RP84.","accession":"DI-05397","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. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP84 is an autosomal recessive, early onset form characterized by night blindness by age 4 and complete blindness by age 8. Funduscopy shows severely attenuated retinal vessels, severe macular atrophy, and prominent and deep macular colobomas lacking neuroretinal tissue. ","keywords":"KW-0682:Retinitis pigmentosa.; "},{"identifier":"Sick sinus syndrome 3.","acronym":"SSS3.","accession":"DI-03155","synonyms":null,"cross_references":"MeSH; D012804.","definition":"The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia syndrome') are also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other contributing factors. ","keywords":null}]}