{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3320&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3280&ordering=synonyms","results":[{"identifier":"Microcephaly, congenital cataract, and psoriasiform dermatitis.","acronym":"MCCPD.","accession":"DI-04663","synonyms":"SC4MOL deficiency.; ","cross_references":"MeSH; D008052.","definition":"An autosomal recessive inborn error of cholesterol metabolism characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected individuals. Patients manifest psoriasiform dermatitis, arthralgias, congenital cataracts, microcephaly, and developmental delay. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Spinocerebellar ataxia 15.","acronym":"SCA15.","accession":"DI-01078","synonyms":"SCA16.; Spinocerebellar ataxia type 16.; ","cross_references":"MeSH; D020754.","definition":"Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA15 is an autosomal dominant cerebellar ataxia (ADCA). It is very slow progressing form with a wide range of onset, ranging from childhood to adult. Most patients remain ambulatory. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Spinocerebellar ataxia 19.","acronym":"SCA19.","accession":"DI-03932","synonyms":"SCA22.; Spinocerebellar ataxia 22.; ","cross_references":"MeSH; D020754.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA19 is a relatively mild, cerebellar ataxic syndrome with cognitive impairment, pyramidal tract involvement, tremor and peripheral neuropathy, and mild atrophy of the cerebellar hemispheres and vermis. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Spinocerebellar ataxia, autosomal recessive 4.","acronym":"SCAR4.","accession":"DI-05339","synonyms":"SCA24.; SCASI.; Spinocerebellar ataxia 24.; Spinocerebellar ataxia with saccadic intrusions.; ","cross_references":"MeSH; D013132.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR4 patients manifest ataxic gait with spasticity and hyperreflexia of the lower limbs resulting in difficulty walking. The age at onset is highly variable, ranging from early childhood to adulthood. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Familial scaphocephaly syndrome.","acronym":"FSPC.","accession":"DI-00498","synonyms":"Scaphocephaly, maxillary retrusion, and impaired intellectual development.; ","cross_references":"MeSH; D003398.","definition":"An autosomal dominant craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, hypertelorism, maxillary retrusion, and mild intellectual disability. Scaphocephaly is the most common of the craniosynostosis conditions and is characterized by a long, narrow head. It is due to premature fusion of the sagittal suture or from external deformation. ","keywords":"KW-0989:Craniosynostosis.; KW-0991:Intellectual disability.; "},{"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":"Lichtenstein-Knorr syndrome.","acronym":"LIKNS.","accession":"DI-04382","synonyms":"SCAR19.; Spinocerebellar ataxia, autosomal recessive, 19.; ","cross_references":"MeSH; D006319.","definition":"An autosomal recessive neurologic disorder characterized by progressive cerebellar ataxia and severe progressive sensorineural hearing loss. ","keywords":"KW-0209:Deafness.; KW-0523:Neurodegeneration.; "},{"identifier":"Corneal dystrophy, Schnyder type.","acronym":"SCCD.","accession":"DI-01457","synonyms":"SCD.; Schnyder corneal dystrophy.; Schnyder crystalline corneal dystrophy.; ","cross_references":"MeSH; D003317.","definition":"A form of stromal corneal dystrophy characterized by corneal clouding, resulting from abnormal deposition of cholesterol and phospholipids, and decreased visual acuity. Typically, ring-shaped yellow-white opacities composed of innumerable fine needle-shaped crystals form in Bowman layer and the adjacent anterior stroma of the central cornea. The crystals usually remain in the anterior third of the cornea. The corneal epithelium and endothelium as well as Descemet membrane are spared. ","keywords":"KW-1212:Corneal dystrophy.; "},{"identifier":"Craniodiaphyseal dysplasia autosomal dominant.","acronym":"CDD.","accession":"DI-03135","synonyms":"Schaefer Stein Oshman syndrome.; ","cross_references":"MeSH; D019465.","definition":"A severe bone dysplasia characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones. The sclerosis is so severe that the resulting facial distortion is referred to as 'leontiasis ossea' (leonine faces) and the bone deposition results in progressive stenosis of craniofacial foramina. Respiratory obstruction due to choanal stenosis compromises the clinical outcomes of affected patients. ","keywords":null},{"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 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.; "},{"identifier":"Schizophrenia 2.","acronym":"SCZD2.","accession":"DI-02511","synonyms":"Schizophrenia susceptibility locus chromosome 11q-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 9.","acronym":"SCZD9.","accession":"DI-02510","synonyms":"Schizophrenia susceptibility locus chromosome 1q-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 4.","acronym":"SCZD4.","accession":"DI-02512","synonyms":"Schizophrenia susceptibility locus chromosome 22-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.","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":"Oculoauricular syndrome.","acronym":"OCACS.","accession":"DI-02084","synonyms":"Schorderet-Munier-Franceschetti syndrome.; ","cross_references":"MeSH; D005124.","definition":"A syndrome characterized by microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, rod-cone dystrophy, and anomalies of the external ear. ","keywords":"KW-0898:Cataract.; KW-1013:Microphthalmia.; "},{"identifier":"Stuve-Wiedemann syndrome 1.","acronym":"STWS1.","accession":"DI-02344","synonyms":"Schwartz-Jampel syndrome, neonatal.; Schwartz-Jampel syndrome type 2.; SJS2.; Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.; SWS.; ","cross_references":"MeSH; D054969.","definition":"A form of Stuve-Wiedemann syndrome, an autosomal recessive disease characterized by bowing of tubular bones and other skeletal and craniofacial abnormalities, respiratory distress, feeding difficulties, and hyperthermic episodes. Most patients do not survive past infancy. ","keywords":null},{"identifier":"Immunodeficiency 105.","acronym":"IMD105.","accession":"DI-06464","synonyms":"SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive.; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive.; ","cross_references":"MeSH; D007153.","definition":"An autosomal recessive disorder characterized by recurrent infections in early infancy, decreased or absent numbers of non-functional T cells, normal or increased levels of B cells, hypogammaglobulinemia, and normal or low NK cells. Clinical manifestations may include pneumonia, dermatitis, and lymphadenopathy. ","keywords":null}]}