{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6300","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6260","results":[{"identifier":"Spondylometaphyseal dysplasia, axial.","acronym":"SMDAX.","accession":"DI-05025","synonyms":null,"cross_references":"MeSH; D010009.","definition":"A form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMDAX is characterized by metaphyseal changes of truncal-juxtatruncal bones, including the proximal femora. Main clinical features are postnatal growth failure, rhizomelic short stature in early childhood evolving into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and function rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on fundoscopic examination and cone-rod dystrophy on electroretinogram. The radiological hallmarks include short ribs with flared, cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Spondylometaphyseal dysplasia, corner fracture type.","acronym":"SMDCF.","accession":"DI-05167","synonyms":"Spondylometaphyseal dysplasia, Sutcliffe type.; Sutcliffe type of spondylometaphyseal dysplasia.; ","cross_references":"MeSH; D010009.","definition":"An autosomal dominant form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMDCF is characterized by flake-like, triangular, or curvilinear ossification centers at the edges of irregular metaphyses that simulate fractures. These corner fractures involve the distal tibia, the ulnar aspect of the distal radius, the proximal humerus, and the proximal femur. They represent irregular ossification at the growth plates and secondary ossification centers. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Spondylometaphyseal dysplasia Kozlowski type.","acronym":"SMDK.","accession":"DI-02480","synonyms":"SMD Kozlowski type.; ","cross_references":"MeSH; D010009.","definition":"A form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. It is characterized by postnatal dwarfism, significant scoliosis and mild metaphyseal abnormalities in the pelvis. The vertebrae exhibit platyspondyly and overfaced pedicles. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type.","acronym":"SMDMDM.","accession":"DI-04374","synonyms":"Chondrodysplasia, Megarbane-Dagher-Melike type.; ","cross_references":"MeSH; D010009.","definition":"An autosomal recessive disease characterized by pre- and postnatal short stature, developmental delay, dysmorphic facial appearance, narrow chest, prominent abdomen, platyspondyly, and short limbs. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Spondylometaphyseal dysplasia, Pagnamenta type.","acronym":"SMDP.","accession":"DI-06277","synonyms":null,"cross_references":"MeSH; D010009.","definition":"A form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMDP is an autosomal recessive form characterized by short stature and mild platyspondyly with no disproportion between the limbs. Mild metaphyseal changes are present. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Spondylometaphyseal dysplasia, Sedaghatian type.","acronym":"SMDS.","accession":"DI-04167","synonyms":"Congenital lethal metaphyseal chondrodysplasia.; Sedaghatian chondrodysplasia.; ","cross_references":"MeSH; D010009.","definition":"A form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMDS is a neonatal lethal form characterized by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, cardiac conduction defects, and central nervous system abnormalities. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Spondylometaphyseal dysplasia with cone-rod dystrophy.","acronym":"SMDCRD.","accession":"DI-04061","synonyms":null,"cross_references":"MeSH; D012174.","definition":"An autosomal recessive disorder characterized by postnatal growth deficiency resulting in profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction. ","keywords":"KW-0182:Cone-rod dystrophy.; KW-0242:Dwarfism.; "},{"identifier":"Spondylometaphyseal dysplasia with corneal dystrophy.","acronym":"SMDCD.","accession":"DI-05885","synonyms":null,"cross_references":"MeSH; D010009.","definition":"An autosomal recessive disorder characterized by postnatal growth deficiency, profound limb shortening with proximal and distal segments involvement, narrow chest, radiological abnormalities involving the spine, pelvis and metaphyses, corneal clouding, and intellectual disability. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Spondyloocular syndrome.","acronym":"SOS.","accession":"DI-04546","synonyms":null,"cross_references":"MeSH; D019465.","definition":"A syndrome characterized by cataract, loss of vision due to retinal detachment, facial dysmorphism, facial hypotonia, normal height with disproportional short trunk, osteoporosis, immobile spine with thoracic kyphosis and reduced lumbal lordosis. ","keywords":null},{"identifier":"Spondyloperipheral dysplasia.","acronym":"SPD.","accession":"DI-02337","synonyms":null,"cross_references":"MedGen; C0796173.","definition":"SPD patients manifest short stature, midface hypoplasia, sensorineural hearing loss, spondyloepiphyseal dysplasia, platyspondyly and brachydactyly. ","keywords":null},{"identifier":"Spongiform encephalopathy with neuropsychiatric features.","acronym":"SENF.","accession":"DI-02210","synonyms":null,"cross_references":"MedGen; C1847650.","definition":"Autosomal dominant presenile dementia with a rapidly progressive and protracted clinical course. The dementia was characterized clinically by frontotemporal features, including early personality changes. Some patients had memory loss, several showed aggressiveness, hyperorality and verbal stereotypy, others had parkinsonian symptoms. ","keywords":null},{"identifier":"Squalene synthase deficiency.","acronym":"SQSD.","accession":"DI-05357","synonyms":"Neurodevelopmental disorder with low cholesterol and abnormal urine organic acids.; ","cross_references":"MeSH; D008661.","definition":"An autosomal recessive disorder characterized by profound developmental delay, brain abnormalities, 2/3 syndactyly of the toes, facial dysmorphisms, low total and LDL-cholesterol, and abnormal urine organic acids. ","keywords":null},{"identifier":"Squamous cell carcinoma of the head and neck.","acronym":"HNSCC.","accession":"DI-01696","synonyms":null,"cross_references":"MeSH; D002294.","definition":"A non-melanoma skin cancer affecting the head and neck. The hallmark of cutaneous SCC is malignant transformation of normal epidermal keratinocytes. ","keywords":null},{"identifier":"Stankiewicz-Isidor syndrome.","acronym":"STISS.","accession":"DI-05014","synonyms":null,"cross_references":"MeSH; D065886.","definition":"A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild dysmorphism, ophthalmologic anomalies, feeding difficulties, deafness, and variable congenital malformations of the cardiac and/or urogenital systems. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Stapes ankylosis with broad thumb and toes.","acronym":"SABTS.","accession":"DI-02339","synonyms":"Ankylosis of stapes, hyperopia, broad thumbs, broad first toes, and syndactyly.; Stapes ankylosis syndrome without symphalangism.; Teunissen-Cremers syndrome.; ","cross_references":"MeSH; D009140.","definition":"An autosomal dominant disorder characterized by hyperopia, a hemicylindrical nose, broad thumbs, great toes, and other minor skeletal anomalies but lacked carpal and tarsal fusion and symphalangism. ","keywords":null},{"identifier":"Stargardt disease 1.","acronym":"STGD1.","accession":"DI-01084","synonyms":"Juvenile macular degeneration.; Macular dystrophy with flecks type 1.; Stargardt's disease.; ","cross_references":"MeSH; D003317.","definition":"A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. ","keywords":"KW-0751:Stargardt disease.; "},{"identifier":"Stargardt disease 3.","acronym":"STGD3.","accession":"DI-01085","synonyms":"Macular dystrophy autosomal dominant chromosome 6-linked.; Macular dystrophy with flecks type 3.; Stargardt-like macular dystrophy.; ","cross_references":"MeSH; D003317.","definition":"A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. ","keywords":"KW-0751:Stargardt disease.; "},{"identifier":"Stargardt disease 4.","acronym":"STGD4.","accession":"DI-01086","synonyms":null,"cross_references":"MeSH; D003317.","definition":"A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. ","keywords":"KW-0751:Stargardt disease.; "},{"identifier":"Steatocystoma multiplex.","acronym":"SM.","accession":"DI-02341","synonyms":null,"cross_references":"MedGen; C0259771.","definition":"Disease characterized by round or oval cystic tumors widely distributed on the back, anterior trunk, arms, scrotum, and thighs. ","keywords":null},{"identifier":"Steel syndrome.","acronym":"STLS.","accession":"DI-04187","synonyms":"Dislocated hips and radial heads, carpal coalition, scoliosis, and short stature.; ","cross_references":"MeSH; D012600.","definition":"A syndrome characterized by dislocated hips and radial heads, fusion of carpal bones, short stature, scoliosis, and cervical spine anomalies. Facial features include prominent forehead, long oval- shaped face, hypertelorism and broad nasal bridge. ","keywords":"KW-0242:Dwarfism.; "}]}