{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5900","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5860","results":[{"identifier":"Short-rib thoracic dysplasia 6 with or without polydactyly.","acronym":"SRTD6.","accession":"DI-03018","synonyms":"Majewski syndrome.; Polydactyly with neonatal chondrodystrophy type II.; Short rib-polydactyly syndrome 2A.; Short rib-polydactyly syndrome type II.; Short rib-polydactyly syndrome type IIA.; SRPS2A.; SRPS type II.; ","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 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-rib thoracic dysplasia 7 with or without polydactyly.","acronym":"SRTD7.","accession":"DI-03182","synonyms":"Short rib-polydactyly syndrome type V.; SRPS5.; SRPS type V.; ","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. SRTD7 hallmarks are acromesomelic hypomineralization, campomelia, polysyndactyly, laterality defects, and cystic kidneys. ","keywords":"KW-1186:Ciliopathy.; "},{"identifier":"Short-rib thoracic dysplasia 8 with or without polydactyly.","acronym":"SRTD8.","accession":"DI-03926","synonyms":"Short rib-polydactyly syndrome type VI.; SRPS6.; SRPS type VI.; ","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 9 with or without polydactyly.","acronym":"SRTD9.","accession":"DI-03475","synonyms":"Conorenal syndrome.; Mainzer-Saldino disease.; Mainzer-Saldino syndrome.; MSS.; MZSDS.; Renal dysplasia retinal pigmentary dystrophy cerebellar ataxia and skeletal dysplasia.; ","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. SRTD9 is characterized by phalangeal cone-shaped epiphyses, chronic renal disease, nearly constant retinal dystrophy, and mild radiographic abnormality of the proximal femur. Occasional features include short stature, cerebellar ataxia, and hepatic fibrosis. ","keywords":"KW-1186:Ciliopathy.; "},{"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 and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans.","acronym":"SSOAOD.","accession":"DI-02814","synonyms":"Osteochondritis dissecans, short stature, and early-onset osteoarthritis.; ","cross_references":"MeSH; D010008.","definition":"An autosomal dominant disease characterized by short stature, advanced bone maturation, early-onset osteoarthritis, and mild dysmorphic features consisting of midface hypoplasia, brachydactyly, broad great toes, and lumbar lordosis. Other features include intervertebral disk disease and osteochondritis dissecans. Osteochondritis dissecans is defined as a separation of cartilage and subchondral bone from the surrounding tissue. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Short stature and microcephaly with genital anomalies.","acronym":"SSMGA.","accession":"DI-05717","synonyms":null,"cross_references":"MeSH; D014564.","definition":"An autosomal recessive disease characterized by growth failure resulting in severe short stature, severe microcephaly, and delayed and dissociated bone age. Additional features include global psychomotor developmental delay, pubertal delay and genital anomalies. ","keywords":"KW-0242:Dwarfism.; "},{"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":"Short stature, brachydactyly, impaired intellectual developmental, and seizures.","acronym":"SBIDDS.","accession":"DI-04865","synonyms":"Short stature, brachydactyly, intellectual developmental disability, and seizures.; ","cross_references":"MeSH; D065886.","definition":"An autosomal recessive disease characterized by developmental delay, learning disabilities, mild intellectual disability, delayed speech, and skeletal abnormalities. Skeletal features include short stature, brachydactyly, and short metacarpals and metatarsals. ","keywords":"KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "},{"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":"Short stature, developmental delay, and congenital heart defects.","acronym":"SDDHD.","accession":"DI-04769","synonyms":"TKT deficiency.; Transketolase deficiency.; ","cross_references":"MeSH; D065886.","definition":"An autosomal recessive syndrome characterized by short stature, developmental delay, intellectual disability and congenital heart defects including ventricular septal defect, atrial septal defect and patent foramen ovale. Cataract and uveitis are observed in some patients. ","keywords":"KW-0242:Dwarfism.; "},{"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":"Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2.","acronym":"SSFSC2.","accession":"DI-06048","synonyms":null,"cross_references":"MeSH; D019465.","definition":"An autosomal recessive disorder characterized by reduced growth, skeletal abnormalities, a distinctive craniofacial appearance, and dental anomalies. Cardiac anomalies have been reported in some patients. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Short stature, hearing loss, retinitis pigmentosa, and distinctive facies.","acronym":"SHRF.","accession":"DI-05141","synonyms":null,"cross_references":"MeSH; D000015.","definition":"An autosomal recessive disorder characterized by childhood myopia, early onset retinitis pigmentosa, progressive sensorineural hearing loss, hypothyroidism, short stature, brachydactyly, recognisable facial gestalt, premature ageing and mild intellectual disability. ","keywords":"KW-0209:Deafness.; KW-0242:Dwarfism.; KW-0682:Retinitis pigmentosa.; "},{"identifier":"Short stature, idiopathic, X-linked.","acronym":"ISS.","accession":"DI-01807","synonyms":null,"cross_references":"MeSH; D004392.","definition":"A condition defined by a standing height more than 2 standard deviations below the mean (or below the 2.5 percentile) for sex and chronological age, compared with a well-nourished, genetically relevant population, in the absence of specific causative disorders. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies.","acronym":"SIMHA.","accession":"DI-06249","synonyms":"SIMHA syndrome.; ","cross_references":"MeSH; D008607.","definition":"An autosomal recessive syndrome characterized by short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies. ","keywords":"KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "},{"identifier":"Short stature, microcephaly, and endocrine dysfunction.","acronym":"SSMED.","accession":"DI-04525","synonyms":null,"cross_references":"MeSH; D008831.","definition":"A disease characterized by short stature and microcephaly apparent at birth, progressive postnatal growth failure, and endocrine dysfunction. In affected adults endocrine features include hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus. Variable features observed in some patients are progressive ataxia, and lymphopenia or borderline leukopenia. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Short stature-micrognathia syndrome.","acronym":"SSMG.","accession":"DI-04856","synonyms":"Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay.; SRMMD.; ","cross_references":"MeSH; D019465.","definition":"An autosomal dominant disorder characterized by facial dysmorphism, severe micrognathia, microcephaly, rhizomelic short stature, and mild developmental delay. ","keywords":"KW-0242:Dwarfism.; "},{"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.; "}]}