{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3400&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3360&ordering=synonyms","results":[{"identifier":"Spinocerebellar ataxia 46.","acronym":"SCA46.","accession":"DI-05144","synonyms":"Spinocerebellar ataxia, 46, autosomal dominant, with sensory axonal neuropathy.; ","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. SCA46 is a slowly progressive, autosomal dominant form with onset in adulthood. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Spinocerebellar ataxia 4.","acronym":"SCA4.","accession":"DI-06803","synonyms":"Spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy.; ","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. SCA4 is characterized by the onset of balance disturbances and gait and limb ataxia usually in the fourth decade, although earlier onset in the teens or twenties has been reported. There is evidence of genetic anticipation within families. Inheritance is autosomal dominant. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Boucher-Neuhauser syndrome.","acronym":"BNHS.","accession":"DI-04065","synonyms":"Spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy.; ","cross_references":"MeSH; D058499.","definition":"An autosomal recessive disorder characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and visual impairment due to chorioretinal dystrophy. The age at onset is variable, but most patients develop 1 or more symptoms in the first decade of life. Chorioretinal dystrophy may not always be present. ","keywords":"KW-0523:Neurodegeneration.; KW-1016:Hypogonadotropic hypogonadism.; "},{"identifier":"Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome.","acronym":"ROSAH.","accession":"DI-05949","synonyms":"Splenomegaly, cytopenia, and vision loss.; ","cross_references":"MeSH; D058499.","definition":"An autosomal dominant disorder characterized by decreased vision associated with optic nerve edema, evident in childhood. Low-grade ocular inflammation is common in affected individuals. Later in childhood or the second decade of life, patients have increasing visual impairment, abnormal cone function and loss of rod function. By the third decade of life, visual acuity ranges from counting fingers to no light perception. Patients also show anhidrosis, splenomegaly, mild pancytopenia, and most experience headaches that may be migraine- like in nature. ","keywords":null},{"identifier":"Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and Leber congenital amaurosis.","acronym":"SHILCA.","accession":"DI-06074","synonyms":"Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis.; ","cross_references":"MeSH; D057130.","definition":"An autosomal recessive disorder characterized by early-onset retinal degeneration, sensorineural hearing loss, short stature due to spondyloepiphyseal dysplasia, and motor and intellectual delay. Brain imaging shows abnormalities including delayed myelination, leukoencephalopathy, and cerebellar hypoplasia. ","keywords":"KW-0209:Deafness.; KW-0242:Dwarfism.; KW-0901:Leber congenital amaurosis.; KW-0991:Intellectual disability.; "},{"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":"Coenzyme Q10 deficiency, primary, 6.","acronym":"COQ10D6.","accession":"DI-03445","synonyms":"SRNS with sensorineural deafness.; Steroid-resistant nephrotic syndrome with sensorineural deafness.; ","cross_references":"MeSH; D028361.","definition":"An autosomal recessive disorder characterized by onset in infancy of severe progressive nephrotic syndrome resulting in end-stage renal failure and sensorineural deafness. Renal biopsy usually shows focal segmental glomerulosclerosis. ","keywords":"KW-0209:Deafness.; KW-1274:Primary mitochondrial disease.; "},{"identifier":"Intellectual developmental disorder, X-linked, syndromic, Snyder-Robinson type.","acronym":"MRXSSR.","accession":"DI-02315","synonyms":"SRS.; ","cross_references":"MeSH; D038901.","definition":"An X-linked intellectual disability syndrome characterized by a collection of clinical features including facial asymmetry, marfanoid habitus, hypertonia, osteoporosis and unsteady gait. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Stuttering, familial persistent 1.","acronym":"STUT1.","accession":"DI-04675","synonyms":"Stammering.; ","cross_references":"MeSH; D013342.","definition":"A familial form of stuttering, a disturbance in the normal fluency and time patterning of speech, characterized by frequent repetitions or prolongations of sounds or syllables, and by interruptions of speech known as blocks. STUT1 inheritance is autosomal dominant. ","keywords":null},{"identifier":"Toe syndactyly, telecanthus, and anogenital and renal malformations.","acronym":"STAR.","accession":"DI-02373","synonyms":"STAR syndrome.; Syndactyly with renal and anogenital malformations.; ","cross_references":"MeSH; D014564.","definition":"A syndrome characterized by anal, genital and renal tract anomalies, facial dysmorphism and syndactyly. Features include anal stenosis, a rectovaginal fistula, clitoral hypertrophy, a pelvic right kidney, toe syndactyly, and telecanthus. ","keywords":null},{"identifier":"Parkinson-dementia syndrome.","acronym":"PARDE.","accession":"DI-03096","synonyms":"Steele-Richardson-Olszewski syndrome atypical.; Supranuclear palsy progressive 1 atypical.; ","cross_references":"MeSH; D013494.","definition":"A syndrome characterized by parkinsonism, tremor, rigidity, dementia, ophthalmoparesis and pyramidal signs. Neurofibrillary degeneration occurs in the hippocampus, basal ganglia and brainstem nuclei. ","keywords":"KW-0523:Neurodegeneration.; KW-0908:Parkinsonism.; "},{"identifier":"Leukoencephalopathy with dystonia and motor neuropathy.","acronym":"LKDMN.","accession":"DI-02987","synonyms":"Sterol carrier protein 2 deficiency.; ","cross_references":"MeSH; D056784.","definition":"A syndrome characterized by leukoencephalopathy, dystonic head tremor, spasmodic torticollis and reduced tendon reflexes in lower extremities. Additional features include hyposmia, pathologic saccadic eye movements, a slight hypoacusis, accumulation of branched-chain pristanic acid in plasma, and the presence of abnormal bile alcohol glucuronides in urine. ","keywords":null},{"identifier":"Stickler syndrome 1 non-syndromic ocular.","acronym":"STL1O.","accession":"DI-01091","synonyms":"Stickler syndrome atypical.; Stickler syndrome predominantly ocular.; Wagner syndrome 2.; ","cross_references":"MeSH; D012163.","definition":"An autosomal dominant form of Stickler syndrome characterized by the ocular signs typically seen in Stickler syndrome type 1 such as cataract, myopia, retinal detachment. Systemic features of premature osteoarthritis, cleft palate, hearing impairment, and craniofacial abnormalities are either absent or very mild. ","keywords":"KW-0757:Stickler syndrome.; "},{"identifier":"Stickler syndrome 2.","acronym":"STL2.","accession":"DI-01092","synonyms":"Stickler syndrome beaded vitreous type.; Stickler syndrome type II.; Stickler syndrome vitreous type 2.; ","cross_references":"MeSH; D034381.","definition":"An autosomal dominant form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable. ","keywords":"KW-0209:Deafness.; KW-0757:Stickler syndrome.; "},{"identifier":"Stickler syndrome 6.","acronym":"STL6.","accession":"DI-06492","synonyms":"Stickler syndrome, type VI.; ","cross_references":"MeSH; D034381.","definition":"A form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondyly and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. STL6 is an autosomal recessive form characterized by early-onset progressive hearing loss and progressive myopia, with variable manifestation of facial dysmorphism and skeletal anomalies. ","keywords":"KW-0209:Deafness.; KW-0757:Stickler syndrome.; "},{"identifier":"Cryohydrocytosis.","acronym":"CHC.","accession":"DI-04609","synonyms":"Stomatocytosis, cold-sensitive.; ","cross_references":"MeSH; D000745.","definition":"An autosomal dominant disorder of red cell membrane permeability characterized by cold-induced changes in cell volume, resulting in cold-sensitive stomatocytosis, and increased erythrocyte osmotic fragility and autohemolysis at 4 degrees Celsius. Patients present with mild to moderate hemolytic anemia, splenomegaly, fatigue, and pseudohyperkalemia due to a potassium leak from the erythrocytes. ","keywords":"KW-0360:Hereditary hemolytic anemia.; "},{"identifier":"Brachydactyly D.","acronym":"BDD.","accession":"DI-00198","synonyms":"Stub thumb.; ","cross_references":"MeSH; D059327.","definition":"A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type D is characterized by short and broad terminal phalanges of the thumbs and big toes. ","keywords":null},{"identifier":"Sulfite oxidase deficiency, isolated.","acronym":"ISOD.","accession":"DI-01843","synonyms":"Sulfocysteinuria.; ","cross_references":"MeSH; D020739.","definition":"A life-threatening, autosomal recessive neurometabolic disorder characterized by severe neurological impairment. Classic ISOD manifests in the first few hours to days of life and is characterized by intractable seizures, feeding difficulties, rapidly progressive encephalopathy, microcephaly, and profound intellectual disability. Children usually die during the first few months of life. Mild ISOD manifests in infancy or early childhood and is characterized by ectopia lentis that is variably present, developmental delay and regression, movement disorder characterized by dystonia and choreoathetosis, ataxia, and rarely acute hemiplegia due to metabolic stroke. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Brunner syndrome.","acronym":"BRNRS.","accession":"DI-00206","synonyms":"Susceptibility to antisocial behavior.; ","cross_references":"MeSH; D008607.","definition":"A form of X-linked non-dysmorphic mild intellectual disability. Male patients are affected by borderline intellectual deficit and exhibit abnormal behavior, including disturbed regulation of impulsive aggression. Obligate female carriers have normal intelligence and behavior. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Colorectal cancer 1.","acronym":"CRCS1.","accession":"DI-02924","synonyms":"Susceptibility to colorectal adenoma and cancer.; Susceptibility to colorectal cancer on chromosome 9.; ","cross_references":"MeSH; D015179.","definition":"A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. ","keywords":null}]}