{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5900&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5860&ordering=synonyms","results":[{"identifier":"Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis.","acronym":"SSASKS.","accession":"DI-05512","synonyms":null,"cross_references":"MeSH; D001848.","definition":"An autosomal recessive disorder characterized by disproportionate short stature, defective tooth enamel formation, and skeletal dysplasia with severe scoliosis in some patients. Variable features include facial dysmorphism, hearing impairment, and mildly impaired intellectual development. ","keywords":"KW-0242:Dwarfism.; KW-0986:Amelogenesis imperfecta.; "},{"identifier":"Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities.","acronym":"SAMS.","accession":"DI-04071","synonyms":null,"cross_references":"MeSH; D001848.","definition":"An autosomal recessive developmental disorder with features of a first and second branchial arch syndrome, and with unique rhizomelic skeletal anomalies. Craniofacial abnormalities can lead to conductive hearing loss, respiratory insufficiency, and feeding difficulties. Skeletal features include bilateral humeral hypoplasia, humeroscapular synostosis, pelvic abnormalities, and proximal defects of the femora. Affected individuals may also have some features of a neurocristopathy or abnormal mesoderm development, such as urogenital anomalies, that are distinct from other branchial arch syndromes. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Rhabdoid tumor predisposition syndrome 2.","acronym":"RTPS2.","accession":"DI-02895","synonyms":null,"cross_references":"MeSH; D018335.","definition":"A familial cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors. Rhabdoid tumors are the most aggressive and lethal malignancies occurring in early childhood. ","keywords":null},{"identifier":"Short stature, Dauber-Argente type.","acronym":"SSDA.","accession":"DI-06211","synonyms":null,"cross_references":"MeSH; D004392.","definition":"An autosomal recessive disorder characterized by progressive postnatal growth failure, moderate microcephaly, thin long bones, mildly decreased bone density, and elevated serum levels of total IGF1, IGFBP3 and IGFBP5. Levels of circulating free IGF1 are reduced. ","keywords":"KW-0242:Dwarfism.; "},{"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":"Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1.","acronym":"SSFSC1.","accession":"DI-05196","synonyms":null,"cross_references":"MeSH; D001848.","definition":"An autosomal dominant disorder characterized by short stature, facial dysmorphism, skeletal anomalies, and variable cardiac defects. Distinctive facial features include midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding. Skeletal anomalies include patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray. Congenital heart defects are variably observed and appear to involve primarily the cardiac outflow tract. ","keywords":"KW-0242:Dwarfism.; "},{"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 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":"Short-rib thoracic dysplasia 10 with or without polydactyly.","acronym":"SRTD10.","accession":"DI-04035","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 11 with or without polydactyly.","acronym":"SRTD11.","accession":"DI-04036","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 13 with or without polydactyly.","acronym":"SRTD13.","accession":"DI-04389","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 14 with polydactyly.","acronym":"SRTD14.","accession":"DI-04524","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 15 with polydactyly.","acronym":"SRTD15.","accession":"DI-04792","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 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":"Short-rib thoracic dysplasia 16 with or without polydactyly.","acronym":"SRTD16.","accession":"DI-04794","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 17 with or without polydactyly.","acronym":"SRTD17.","accession":"DI-04957","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 18 with polydactyly.","acronym":"SRTD18.","accession":"DI-05191","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 19 with or without polydactyly.","acronym":"SRTD19.","accession":"DI-05204","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.; "}]}