{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5800","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5760","results":[{"identifier":"Salt and pepper developmental regression syndrome.","acronym":"SPDRS.","accession":"DI-00096","synonyms":"AIES.; Amish infantile epilepsy syndrome.; Epilepsy syndrome infantile-onset symptomatic.; GM3 synthase deficiency.; ","cross_references":"MeSH; D004827.","definition":"A rare autosomal recessive disorder characterized by infantile onset of severe, recurrent and refractory seizures, failure to thrive, psychomotor delay, developmental stagnation, and cortical blindness. Deafness is observed in some patients. Affected individuals have patches of skin hypo- or hyperpigmentation on the trunk, face, and extremities. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Sandestig-Stefanova syndrome.","acronym":"SANDSTEF.","accession":"DI-05785","synonyms":null,"cross_references":"MeSH; D000015.","definition":"An autosomal recessive syndrome characterized by pre- and postnatal microcephaly, trigonocephaly, congenital bilateral cataract, microphthalmia, cleft lip and palate or high-arched palate, camptodactyly, rocker-bottom feet, heart anomalies, specific brain changes such as loss of periventricular white matter, thin corpus callosum, and delayed myelinization. ","keywords":"KW-0898:Cataract.; KW-1013:Microphthalmia.; "},{"identifier":"Sarcoidosis 1.","acronym":"SS1.","accession":"DI-02731","synonyms":"Besnier-Boeck-Schaumann disease.; Boeck sarcoid.; Sarcoidosis.; ","cross_references":"MeSH; D012507.","definition":"An idiopathic, systemic, inflammatory disease characterized by the formation of immune granulomas in involved organs. Granulomas predominantly invade the lungs and the lymphatic system, but also skin, liver, spleen, eyes and other organs may be involved. ","keywords":null},{"identifier":"Sarcoidosis 2.","acronym":"SS2.","accession":"DI-02732","synonyms":"Besnier-Boeck-Schaumann disease.; Boeck sarcoid.; Sarcoidosis.; ","cross_references":"MeSH; D012507.","definition":"An idiopathic, systemic, inflammatory disease characterized by the formation of immune granulomas in involved organs. Granulomas predominantly invade the lungs and the lymphatic system, but also skin, liver, spleen, eyes and other organs may be involved. ","keywords":null},{"identifier":"Sarcosinemia.","acronym":"SARCOS.","accession":"DI-02279","synonyms":"Hypersarcosinemia.; Sarcosine dehydrogenase complex deficiency.; SARD deficiency.; SARDHD.; SARDH deficiency.; ","cross_references":"MeSH; D000592.","definition":"A metabolic disorder characterized by an increased concentration of sarcosine in plasma and an increased excretion of sarcosine in urine. Sarcosinemia is most probably a benign condition without significant clinical problems. Some reports have associated sarcosinemia with intellectual disability and neurologic problems. ","keywords":null},{"identifier":"Saul-Wilson syndrome.","acronym":"SWILS.","accession":"DI-05354","synonyms":"Microcephalic osteodysplastic dysplasia.; ","cross_references":"MeSH; D010009.","definition":"A rare skeletal dysplasia with characteristic dysmorphic and radiographic findings, as well as early developmental delay, primarily involving speech, with eventual normal cognition. Clinical findings include marked short stature, prominent forehead with an enlarged anterior fontanel, prominent eyes with cataracts, narrow nasal bridge with a convex nasal ridge, micrognathia, clubfoot, brachydactyly, and short distal phalanges of fingers. Radiographic changes include platyspondyly, irregular end plates of vertebral bodies, and hypoplasia of the odontoid process with cervical instability in the spine, coxa valga, overtubulation, metaphyseal flaring and megaepiphyses in the long bones, while the hands and feet exhibit short phalanges, metacarpals and metatarsals, cone-shaped epiphyses of phalanges, and accessory ossification centers of metacarpals and metatarsals. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Scalp-ear-nipple syndrome.","acronym":"SENS.","accession":"DI-03827","synonyms":"Finlay-Marks syndrome.; SEN syndrome.; ","cross_references":"MeSH; D000015.","definition":"A disease characterized by aplasia cutis congenita of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears. Less frequent clinical characteristics include nail dystrophy, dental anomalies, cutaneous syndactyly of the digits, and renal malformations. Penetrance appears to be high, although there is substantial variable expressivity within families. ","keywords":null},{"identifier":"Scapuloperoneal myopathy, X-linked dominant.","acronym":"SPM.","accession":"DI-02442","synonyms":"Scapuloperoneal myopathy FHL1-related.; ","cross_references":"MeSH; D020389.","definition":"A disease characterized by progressive muscle weakness and wasting, upper and lower limbs weakness, foot drop, scapular winging, and myopathic changes on muscle biopsy. Most affected individuals become wheelchair-bound. ","keywords":null},{"identifier":"Scapuloperoneal spinal muscular atrophy.","acronym":"SPSMA.","accession":"DI-02689","synonyms":"Amyotrophy neurogenic scapuloperoneal New England type.; ","cross_references":"MeSH; D009134.","definition":"A clinically variable neuromuscular disorder characterized by neurogenic scapuloperoneal amyotrophy, laryngeal palsy, congenital absence of muscles, progressive scapuloperoneal atrophy and progressive distal weakness and amyotrophy. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Schaaf-Yang syndrome.","acronym":"SHFYNG.","accession":"DI-03984","synonyms":"Chitayat-Hall syndrome.; Prader-Willi-like syndrome.; PWLS.; ","cross_references":"MeSH; D000015.","definition":"A disease characterized by clinical features of Prader-Willi syndrome, including neonatal hypotonia with poor suck, feeding problems in infancy, obesity, developmental delay, short stature, and hypogonadism. Additionally, patients manifest autism spectrum disorder. Some patients have dysmorphic facial features. ","keywords":"KW-0550:Obesity.; KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "},{"identifier":"Schimke immuno-osseous dysplasia.","acronym":"SIOD.","accession":"DI-02282","synonyms":"Immunoosseous dysplasia, Schimke type.; Schimke immunoosseous dysplasia.; ","cross_references":"MeSH; D010009.","definition":"An autosomal recessive pleiotropic disorder characterized by spondyloepiphyseal dysplasia, renal dysfunction and immunodeficiency. Arteriosclerosis may also occur in some case. ","keywords":null},{"identifier":"Schimmelpenning-Feuerstein-Mims syndrome.","acronym":"SFM.","accession":"DI-03512","synonyms":"Epidermal nevus syndrome.; Jadassohn nevus phakomatosis.; JNP.; Linear sebaceous nevus syndrome.; Nevus sebaceus of Jadassohn.; Organoid nevus phakomatosis.; Schimmelpenning syndrome.; SFM syndrome.; Solomon syndrome.; SS.; ","cross_references":"MeSH; D054000.","definition":"A disease characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects. Many oral manifestations have been reported, not only including hypoplastic and malformed teeth, and mucosal papillomatosis, but also ankyloglossia, hemihyperplastic tongue, intraoral nevus, giant cell granuloma, ameloblastoma, bone cysts, follicular cysts, oligodontia, and odontodysplasia. Sebaceous nevi follow the lines of Blaschko and these can continue as linear intraoral lesions, as in mucosal papillomatosis. ","keywords":null},{"identifier":"Schindler disease.","acronym":"SCHIND.","accession":"DI-02283","synonyms":null,"cross_references":"MedGen; C1836547.","definition":"Form of NAGA deficiency characterized by early-onset neuroaxonal dystrophy and neurological signs (convulsion during fever, epilepsy, psychomotor retardation and hypotonia). NAGA deficiency is typically classified in three main phenotypes: NAGA deficiency type I (Schindler disease or Schindler disease type I) with severe manifestations; NAGA deficiency type II (Kanzazi disease or Schindler disease type II) which is mild; NAGA deficiency type III (Schindler disease type III) characterized by mild-to-moderate neurologic manifestations. NAGA deficiency results in the increased urinary excretion of glycopeptides and oligosaccharides containing alpha-N-acetylgalactosaminyl moieties. Inheritance is autosomal recessive. ","keywords":null},{"identifier":"Schinzel-Giedion midface retraction syndrome.","acronym":"SGMFS.","accession":"DI-02836","synonyms":null,"cross_references":"MeSH; D008607.","definition":"A disorder characterized by severe intellectual disability, distinctive facial features, and multiple congenital malformations including skeletal abnormalities, genitourinary and renal malformations, cardiac defects, as well as a higher-than-normal prevalence of tumors, notably neuroepithelial neoplasia. ","keywords":null},{"identifier":"Schizencephaly.","acronym":"SCHZC.","accession":"DI-02284","synonyms":null,"cross_references":"MedGen; C0266484.","definition":"Extremely rare human congenital disorder characterized by a full- thickness cleft within the cerebral hemispheres. These clefts are lined with gray matter and most commonly involve the parasylvian regions. Large portions of the cerebral hemispheres may be absent and replaced by cerebro-spinal fluid. ","keywords":null},{"identifier":"Schizophrenia.","acronym":"SCZD.","accession":"DI-03626","synonyms":"Schizophrenia with or without an affective disorder.; ","cross_references":"MeSH; D012559.","definition":"A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. ","keywords":"KW-1211:Schizophrenia.; "},{"identifier":"Schizophrenia 15.","acronym":"SCZD15.","accession":"DI-03101","synonyms":"Schizophrenia 15 with or without an affective disorder.; Schizophrenia susceptibility locus chromosome 22q13-related.; ","cross_references":"MeSH; D012559.","definition":"A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. ","keywords":"KW-1211:Schizophrenia.; "},{"identifier":"Schizophrenia 17.","acronym":"SCZD17.","accession":"DI-03303","synonyms":"Schizophrenia susceptibility locus chromosome 2p16-related.; ","cross_references":"MeSH; D012559.","definition":"A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. ","keywords":"KW-1211:Schizophrenia.; "},{"identifier":"Schizophrenia 18.","acronym":"SCZD18.","accession":"DI-03726","synonyms":"Schizophrenia 18 with or without an affective disorder.; ","cross_references":"MeSH; D012559.","definition":"A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. ","keywords":"KW-1211:Schizophrenia.; "},{"identifier":"Schizophrenia 19.","acronym":"SCZD19.","accession":"DI-05073","synonyms":"Schizophrenia 19 with or without an affective disorder.; ","cross_references":"MeSH; D012559.","definition":"A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. ","keywords":"KW-1211:Schizophrenia.; "}]}