{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=480&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=440&ordering=-identifier","results":[{"identifier":"Spondyloepimetaphyseal dysplasia, Shohat type.","acronym":"SEMDSH.","accession":"DI-05181","synonyms":"SEMD, Shohat type.; ","cross_references":"MeSH; D010009.","definition":"An autosomal recessive skeletal dysplasia that affects cartilage development. It is characterized by vertebral, epiphyseal, and metaphyseal abnormalities, including scoliosis with vertebral compression fractures, flattened vertebral bodies, and hypomineralization of long bones. Affected individuals may exhibit a small trunk, short neck, small limbs, joint laxity, bowlegs, and/or abdominal distension with hepatosplenomegaly. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Spondyloepimetaphyseal dysplasia, Missouri type.","acronym":"SEMDM.","accession":"DI-02332","synonyms":"SEMD-MO.; Spondyloepimetaphyseal dysplasia type 2.; Spondyloepimetaphyseal dysplasia type Missouri.; Spondylometaepiphyseal dysplasia type Missouri.; ","cross_references":"MeSH; D001848.","definition":"A bone disease characterized by moderate to severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. Epimetaphyseal changes improve with age. ","keywords":null},{"identifier":"Spondyloepimetaphyseal dysplasia, Krakow type.","acronym":"SEMDK.","accession":"DI-05362","synonyms":"Immunoosseous dysplasia, Krakow type.; ","cross_references":"MeSH; D010009.","definition":"An autosomal recessive skeletal disorder characterized by severe spondyloepimetaphyseal dysplasia, rhizomelia, mesomelia with significant anterior bowing of all limbs, severe immunodeficiency, and developmental delay. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Spondyloepimetaphyseal dysplasia, Isidor-Toutain type.","acronym":"SEMDIST.","accession":"DI-05729","synonyms":null,"cross_references":"MeSH; D010009.","definition":"An autosomal dominant bone disease characterized by early postnatal growth deficiency, severe short stature, genu varum, platyspondyly and severe epiphyseal and metaphyseal changes in the lower limbs. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Spondyloepimetaphyseal dysplasia, Guo-Campeau type.","acronym":"SEMDGC.","accession":"DI-06817","synonyms":null,"cross_references":"MeSH; D010009.","definition":"An autosomal recessive, severe bone disease characterized by short stature, scoliosis, platyspondyly, irregular vertebral plates, facial dysmorphism, and variable anomalies of the pelvis, hips, and extremities including short, rudimentary, or absent digits. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Spondyloepimetaphyseal dysplasia, Genevieve type.","acronym":"SEMDG.","accession":"DI-04730","synonyms":"NANS deficiency.; SEMD Genevieve type.; ","cross_references":"MeSH; D010009.","definition":"An autosomal recessive disorder characterized by global developmental delay with infantile onset, intellectual disability, skeletal dysplasia, and short stature. Skeletal findings include flat vertebral bodies with irregular vertebral plates, irregular and flared metaphyses with vertical striations, small and irregular epiphyses, premature carpal ossification and small carpal bones. ","keywords":"KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "},{"identifier":"Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type.","acronym":"SEMDFA.","accession":"DI-04587","synonyms":null,"cross_references":"MeSH; D010009.","definition":"An autosomal recessive skeletal disorder characterized by spondyloepimetaphyseal dysplasia, short stature, facial dysmorphism, short fourth metatarsals, and intellectual disability. ","keywords":"KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "},{"identifier":"Spondyloepimetaphyseal dysplasia, Di Rocco type.","acronym":"SEMDDR.","accession":"DI-05247","synonyms":null,"cross_references":"MeSH; D010009.","definition":"A skeletal disorder characterized by short stature, joint pain, genu vara and spondyloepimetaphyseal dysplasia involving the hips, knees, ankles, wrists and hands. Patients also exhibit variable degrees of metaphysis and spine involvement. SEMDDR transmission pattern is consistent with autosomal dominant inheritance. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type.","acronym":"SEMDBCD.","accession":"DI-02330","synonyms":"Matrilin-3 related SEMD.; SEMD, matrilin-3 type.; Spondyloepimetaphyseal dysplasia bowed-legs type.; Spondyloepimetaphyseal dysplasia matrilin-3 type.; Spondylo-epi-metaphyseal dysplasia matrilin 3 type.; Spondylometaepiphyseal dysplasia matrilin-3 type.; ","cross_references":"MeSH; D001848.","definition":"An autosomal recessive bone disease characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, lumbar lordosis and normal hands. Skeletal abnormalities include short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, hypoplastic iliac bones and flat, ovoid vertebral bodies. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Spondyloepimetaphyseal dysplasia, aggrecan type.","acronym":"SEMDAG.","accession":"DI-02539","synonyms":"SEMD aggrecan type.; ","cross_references":"MeSH; D001848.","definition":"A bone disease characterized by severe short stature, macrocephaly, severe midface hypoplasia, short neck, barrel chest and brachydactyly. The radiological findings comprise long bones with generalized irregular epiphyses with widened metaphyses, especially at the knees, platyspondyly, and multiple cervical-vertebral clefts. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Spondyloenchondrodysplasia with immune dysregulation.","acronym":"SPENCDI.","accession":"DI-03197","synonyms":"Combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia.; Roifman immunoskeletal syndrome.; SPENCD.; ","cross_references":"MeSH; D010009.","definition":"A disease characterized by vertebral and metaphyseal dysplasia, spasticity with cerebral calcifications, and strong predisposition to autoimmune diseases. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. ","keywords":null},{"identifier":"Spondylocostal dysostosis 6, autosomal recessive.","acronym":"SCDO6.","accession":"DI-04516","synonyms":null,"cross_references":"MeSH; D004413.","definition":"A form of spondylocostal dysostosis, a condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Spondylocostal dysostosis 5.","acronym":"SCDO5.","accession":"DI-04021","synonyms":"Costovertebral segmentation anomalies.; Scoliosis, congenital, with or without rib anomalies.; Spondylocostal dysplasia.; Spondylothoracic dysostosis.; TACS.; ","cross_references":"MeSH; D004413.","definition":"A rare condition of variable severity characterized by vertebral and costal anomalies. The main feature include dwarfism, vertebral fusion, hemivertebrae, posterior rib fusion, reduced rib number, and other rib malformations. SCDO5 inheritance can be autosomal dominant or recessive. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Spondylocostal dysostosis 4, autosomal recessive.","acronym":"SCDO4.","accession":"DI-02536","synonyms":null,"cross_references":"MeSH; D004413.","definition":"A rare condition of variable severity characterized by vertebral and costal anomalies. The main feature include dwarfism, vertebral fusion, hemivertebrae, posterior rib fusion, reduced rib number, and other rib malformations. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Spondylocostal dysostosis 3, autosomal recessive.","acronym":"SCDO3.","accession":"DI-01083","synonyms":null,"cross_references":"MeSH; D004413.","definition":"A condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Spondylocostal dysostosis 2, autosomal recessive.","acronym":"SCDO2.","accession":"DI-01082","synonyms":null,"cross_references":"MeSH; D004413.","definition":"A condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Spondylocostal dysostosis 1, autosomal recessive.","acronym":"SCDO1.","accession":"DI-01081","synonyms":"Costovertebral dysplasia.; Jarcho-Levin syndrome.; Spondylothoracic dysostosis.; Spondylothoracic dysplasia.; ","cross_references":"MeSH; D004413.","definition":"A condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Spondylocarpotarsal synostosis syndrome.","acronym":"SCT.","accession":"DI-02329","synonyms":"Congenital scoliosis with unilateral unsegmented bar.; Congenital synspondylism.; SCT.; Spondylocarpotarsal syndrome.; Vertebral fusion with carpal coalition.; ","cross_references":"MedGen; C1848934.","definition":"Disorder characterized by short stature and vertebral, carpal and tarsal fusions. ","keywords":null},{"identifier":"Spondyloarthropathy 1.","acronym":"SPDA1.","accession":"DI-02696","synonyms":"Ankylosing spondylarthritis.; Ankylosing spondylitis.; Bechterew Syndrome.; Marie-Strumpell spondylitis.; Psoriatic arthritis.; Reactive arthritis.; Reiter syndrome.; Rheumatoid spondylitis.; Spondylarthritis ankylopoietica.; Spondylitis ankylosans.; ","cross_references":"MeSH; D016918.","definition":"A chronic rheumatic disease with multifactorial inheritance. It includes a spectrum of related disorders comprising ankylosing spondylitis, a subset of psoriatic arthritis, reactive arthritis (e.g. Reiter syndrome), arthritis associated with inflammatory bowel disease and undifferentiated spondyloarthropathy. These disorders may occur simultaneously or sequentially in the same patient, probably representing various phenotypic expressions of the same disease. Ankylosing spondylitis is the form of rheumatoid arthritis affecting the spine and is considered the prototype of seronegative spondyloarthropathies. It produces pain and stiffness as a result of inflammation of the sacroiliac, intervertebral, and costovertebral joints. ","keywords":null},{"identifier":"Split-hand/foot malformation with long bone deficiency 3.","acronym":"SHFLD3.","accession":"DI-03954","synonyms":"Chromosome 17p13.3, telomeric, duplication syndrome.; ","cross_references":"MeSH; D017880.","definition":"A disease characterized by the association of split-hand/foot malformation with long bone deficiency involving the tibia and fibula. Split-hand/foot malformation is a limb malformation involving the central rays of the autopod. Phenotypic expression is extremely variable between and within families, and even between limbs of a single patient, ranging from syndactyly and oligodactyly to the most severe monodactyly with only a single phalanx. Limb features include median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. ","keywords":null}]}