{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5940&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5900&ordering=synonyms","results":[{"identifier":"Sick sinus syndrome 4.","acronym":"SSS4.","accession":"DI-06153","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. SSS4 is characterized by early and progressive sinus node and atrioventricular conduction dysfunction. Some affected individuals are asymptomatic. SSS4 inheritance is autosomal dominant. ","keywords":null},{"identifier":"Retinitis pigmentosa 83.","acronym":"RP83.","accession":"DI-05372","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. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. ","keywords":null},{"identifier":"Siddiqi syndrome.","acronym":"SIDDIS.","accession":"DI-05681","synonyms":null,"cross_references":"MeSH; D000015.","definition":"An autosomal recessive disorder characterized by early-onset progressive sensorineural hearing impairment, global developmental delay, regression of motor skills, dystonia, and low body mass index. Some patients have an ichthosis-like appearance of the skin and signs of sensory neuropathy. ","keywords":"KW-0209:Deafness.; KW-1023:Dystonia.; "},{"identifier":"Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay.","acronym":"SIFD.","accession":"DI-04261","synonyms":null,"cross_references":"MeSH; D056660.","definition":"An autosomal recessive disease characterized by severe sideroblastic anemia with onset in the neonatal period or infancy, recurrent periodic fevers without an infectious etiology, B-cell lymphopenia and hypogammaglobulinemia. Affected individuals show delayed psychomotor development with variable neurodegeneration. Additional variable features include sensorineural hearing loss, retinitis pigmentosa, nephrocalcinosis, and cardiomyopathy. ","keywords":null},{"identifier":"Sifrim-Hitz-Weiss syndrome.","acronym":"SIHIWES.","accession":"DI-04857","synonyms":null,"cross_references":"MeSH; D000015.","definition":"An autosomal dominant syndrome characterized by intellectual disability, variable congenital defects affecting cardiac, skeletal, and urogenital systems. Short stature, macrocephaly, hearing impairment, and facial dysmorphism are present in some patients. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Retinitis pigmentosa 82 with or without situs inversus.","acronym":"RP82.","accession":"DI-03887","synonyms":null,"cross_references":"MeSH; D012857.","definition":"An autosomal recessive disorder characterized by variable association of retinitis pigmentosa with situs inversus. 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. Situs inversus is a congenital abnormality in which organs in the thorax and the abdomen are opposite to their normal positions due to lateral transposition. ","keywords":"KW-1186:Ciliopathy.; "},{"identifier":"Retinitis pigmentosa 81.","acronym":"RP81.","accession":"DI-05187","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. RP81 inheritance is autosomal recessive. ","keywords":"KW-0682:Retinitis pigmentosa.; "},{"identifier":"Silver-Russell syndrome 4.","acronym":"SRS4.","accession":"DI-05850","synonyms":null,"cross_references":"MeSH; D056730.","definition":"A form of Silver-Russell syndrome, a clinically heterogeneous condition characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. The phenotypic expression changes during childhood and adolescence, with the facial features and asymmetry usually becoming more subtle with age. SRS4 inheritance is autosomal dominant. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Silver-Russell syndrome 5.","acronym":"SRS5.","accession":"DI-05851","synonyms":null,"cross_references":"MeSH; D056730.","definition":"A form of Silver-Russell syndrome, a clinically heterogeneous condition characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. The phenotypic expression changes during childhood and adolescence, with the facial features and asymmetry usually becoming more subtle with age. SRS5 inheritance is autosomal dominant. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Retinitis pigmentosa 80.","acronym":"RP80.","accession":"DI-05130","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. RP80 inheritance is autosomal recessive. ","keywords":"KW-0682:Retinitis pigmentosa.; "},{"identifier":"Simpson-Golabi-Behmel syndrome 2.","acronym":"SGBS2.","accession":"DI-02750","synonyms":null,"cross_references":"MeSH; D001848.","definition":"A severe variant of Simpson-Golabi-Behmel syndrome, a condition characterized by pre- and postnatal overgrowth (gigantism), facial dysmorphism and a variety of inconstant visceral and skeletal malformations. ","keywords":"KW-1186:Ciliopathy.; "},{"identifier":"Singleton-Merten syndrome 1.","acronym":"SGMRT1.","accession":"DI-04386","synonyms":null,"cross_references":"MeSH; D030981.","definition":"An autosomal dominant disorder with variable expression. Core features are marked aortic calcification, dental anomalies, osteopenia, acro- osteolysis, and to a lesser extent glaucoma, psoriasis, muscle weakness, and joint laxity. Dental anomalies include delayed eruption and immature root formation of anterior permanent teeth, early loss of permanent teeth due to short roots, acute root resorption, high caries, and aggressive alveolar bone loss. Additional clinical manifestations include particular facial characteristics and abnormal joint and muscle ligaments. ","keywords":null},{"identifier":"Singleton-Merten syndrome 2.","acronym":"SGMRT2.","accession":"DI-04387","synonyms":null,"cross_references":"MeSH; D030981.","definition":"A form of Singleton-Merten syndrome, an autosomal dominant disorder characterized by marked aortic calcification, dental anomalies, osteopenia, acro-osteolysis, and to a lesser extent glaucoma, psoriasis, muscle weakness, and joint laxity. Additional clinical manifestations include particular facial characteristics and abnormal joint and muscle ligaments. SGMRT2 is an atypical form characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies. ","keywords":null},{"identifier":"Sinoatrial node dysfunction and deafness.","acronym":"SANDD.","accession":"DI-03562","synonyms":null,"cross_references":"MeSH; D001146.","definition":"A disease characterized by congenital severe to profound deafness without vestibular dysfunction, associated with episodic syncope due to intermittent pronounced bradycardia. ","keywords":"KW-0209:Deafness.; "},{"identifier":"Retinitis pigmentosa 79.","acronym":"RP79.","accession":"DI-04983","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. RP79 inheritance is autosomal dominant. ","keywords":"KW-0682:Retinitis pigmentosa.; "},{"identifier":"Retinitis pigmentosa 78.","acronym":"RP78.","accession":"DI-04985","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. RP78 inheritance is autosomal recessive. ","keywords":"KW-0682:Retinitis pigmentosa.; "},{"identifier":"Sitosterolemia 2.","acronym":"STSL2.","accession":"DI-05695","synonyms":null,"cross_references":"MeSH; D008052.","definition":"A form of sitosterolemia, an autosomal recessive metabolic disorder characterized by unregulated intestinal absorption of cholesterol, phytosterols and shellfish sterols, and decreased biliary excretion of dietary sterols into bile. Patients have hypercholesterolemia, very high levels of plant sterols in the plasma, and frequently develop tendon and tuberous xanthomas, accelerated atherosclerosis and premature coronary artery disease. ","keywords":null},{"identifier":"Sjoegren-Larsson syndrome.","acronym":"SLS.","accession":"DI-01031","synonyms":null,"cross_references":"MeSH; D016111.","definition":"An autosomal recessive neurocutaneous disorder characterized by a combination of severe intellectual disability, spastic di- or tetraplegia and congenital ichthyosis. Ichthyosis is usually evident at birth with varying degrees of erythema and scaling, neurologic symptoms appear in the first or second year of life. Most patients have an IQ of less than 60. Additional clinical features include glistening white spots on the retina, seizures, short stature and speech defects. ","keywords":"KW-0977:Ichthyosis.; KW-0991:Intellectual disability.; "},{"identifier":"Skeletal defects, genital hypoplasia, and impaired intellectual development.","acronym":"SGYMR.","accession":"DI-02310","synonyms":null,"cross_references":"MeSH; D009139.","definition":"A disorder characterized by intellectual disability, craniofacial dysmorphism, microcephaly and short stature. Additional features include absence of the thumbs, hypoplasia of the radii and ulnae, additional vertebrae and ribs, retarded bone age and genital hypoplasia. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Skeletal dysplasia, mild, with joint laxity and advanced bone age.","acronym":"SDJLABA.","accession":"DI-05830","synonyms":null,"cross_references":"MeSH; D001848.","definition":"An autosomal recessive disorder characterized by skeletal dysplasia, short stature, short long bones, advanced bone age, joint laxity, and facial dysmorphism. ","keywords":"KW-0242:Dwarfism.; "}]}