{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6180&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6140&ordering=synonyms","results":[{"identifier":"Spinal muscular atrophy, infantile, James type.","acronym":"SMAJI.","accession":"DI-05926","synonyms":null,"cross_references":"MeSH; D009134.","definition":"An autosomal dominant form of spinal muscular atrophy, a group of neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMAJI is a severe disease characterized by hypotonia manifesting in the first weeks or months of life, delayed motor development, motor regression, and muscle weakness and atrophy primarily affecting distal muscles. Additional variable features include feeding difficulties, poor overall growth, foot deformities, kyphosis, hyperlordosis, scoliosis, vocal cord dysfunction, and respiratory insufficiency. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Spinal muscular atrophy, Jokela type.","acronym":"SMAJ.","accession":"DI-04345","synonyms":null,"cross_references":"MeSH; D009134.","definition":"An autosomal dominant, slowly progressive, lower motor neuron disease. SMAJ is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs. The disorder results in weakness and mild muscle atrophy later in life. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Retinitis pigmentosa 10.","acronym":"RP10.","accession":"DI-00977","synonyms":null,"cross_references":"MeSH; D012174.","definition":"A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. ","keywords":"KW-0682:Retinitis pigmentosa.; "},{"identifier":"Spinal muscular atrophy, lower extremity-predominant 2A, childhood onset, autosomal dominant.","acronym":"SMALED2A.","accession":"DI-03814","synonyms":null,"cross_references":"MeSH; D009134.","definition":"An autosomal dominant form of spinal muscular atrophy characterized by early-childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement. The disorder results in delayed walking, waddling gait, difficulty walking, and loss of distal reflexes. Some patients may have foot deformities or hyperlordosis, and some show mild upper motor signs, such as spasticity. Sensation, bulbar function, and cognitive function are preserved. The disorder shows very slow progression throughout life. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Spondyloepiphyseal dysplasia type Kimberley.","acronym":"SEDK.","accession":"DI-02336","synonyms":null,"cross_references":"MedGen; C1842149.","definition":"Spondyloepiphyseal dysplasias are a heterogeneous group of congenital chondrodysplasias that specifically affect epiphyses and vertebrae. The autosomal dominant SEDK is associated with premature degenerative arthropathy. ","keywords":null},{"identifier":"Retinitis pigmentosa 1.","acronym":"RP1.","accession":"DI-00971","synonyms":null,"cross_references":"MeSH; D012174.","definition":"A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. ","keywords":"KW-0682:Retinitis pigmentosa.; "},{"identifier":"Retinal dystrophy, juvenile cataracts, and short stature syndrome.","acronym":"RDJCSS.","accession":"DI-04303","synonyms":null,"cross_references":"MeSH; D058499.","definition":"A disorder characterized by retinal dystrophy resulting in progressive decrease in visual acuity and difficulties with night vision in the first decade of life, development of juvenile cataracts, facial dysmorphism, psychomotor developmental delays, learning disabilities and short stature. Ophthalmological findings include salt-and-pepper retinopathy, attenuation of the arterioles, generalized rod-cone dysfunction, mottled macula at an early age, and peripapillary sparing of the retinal pigment epithelium. ","keywords":"KW-0242:Dwarfism.; KW-0898:Cataract.; "},{"identifier":"Retinal dystrophy, iris coloboma, and comedogenic acne syndrome.","acronym":"RDCCAS.","accession":"DI-02265","synonyms":null,"cross_references":"MeSH; D058499.","definition":"A disease characterized by retinal degeneration, ocular colobomas involving both the anterior and posterior segment, impaired night vision and loss of visual acuity. Additional characteristic features include developmental abnormalities and severe acne. ","keywords":null},{"identifier":"Spinocerebellar ataxia 10.","acronym":"SCA10.","accession":"DI-01073","synonyms":null,"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. SCA10 is an autosomal dominant cerebellar ataxia (ADCA). ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Spinocerebellar ataxia 11.","acronym":"SCA11.","accession":"DI-01074","synonyms":null,"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. SCA11 is an autosomal dominant cerebellar ataxia (ADCA). It is a relatively benign, late- onset, slowly progressive neurologic disorder. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Spinocerebellar ataxia 12.","acronym":"SCA12.","accession":"DI-01075","synonyms":null,"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. SCA12 is an autosomal dominant cerebellar ataxia (ADCA). ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Spinocerebellar ataxia 13.","acronym":"SCA13.","accession":"DI-01076","synonyms":null,"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. SCA13 is an autosomal dominant cerebellar ataxia (ADCA) characterized by slow progression and variable age at onset, ranging from childhood to late adulthood. Intellectual disability can be present in some patients. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Spinocerebellar ataxia 14.","acronym":"SCA14.","accession":"DI-01077","synonyms":null,"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. SCA14 is an autosomal dominant cerebellar ataxia (ADCA). ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Retinal dystrophy, early-onset, with or without pituitary dysfunction.","acronym":"RDEOP.","accession":"DI-04439","synonyms":null,"cross_references":"MeSH; D058499.","definition":"An autosomal dominant ocular disease characterized by pattern dystrophy of the retinal pigment epithelium, and photoreceptor degeneration. Mild developmental anomalies include optic nerve head dysplasia, microcornea, and Rathke's cleft cyst. Some patients manifest pituitary dysfunction. ","keywords":null},{"identifier":"Retinal dystrophy with or without macular staphyloma.","acronym":"RDMS.","accession":"DI-05024","synonyms":null,"cross_references":"MeSH; D058499.","definition":"An ocular disorder characterized by decreased vision which worsen over time, and dystrophic changes in the retina, such as retinal pigment epithelium mottling and vessel narrowing. Macular staphyloma, without high myopia, is present in some patients. ","keywords":"KW-1186:Ciliopathy.; "},{"identifier":"Retinal dystrophy with or without extraocular anomalies.","acronym":"RDEOA.","accession":"DI-04885","synonyms":null,"cross_references":"MeSH; D058499.","definition":"An autosomal recessive disease characterized by progressive retinal dystrophy, chorioretinal macular atrophy, reduced cone and rod responses on ERG, and decrease visual acuity. Extraocular anomalies are variably present in some patients and include pulmonary fibrosis, sensorineural hearing loss, and endocrine features such as goiter and primary ovarian insufficiency. ","keywords":null},{"identifier":"Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits.","acronym":"SCA42ND.","accession":"DI-05309","synonyms":null,"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. SCA42ND is an early- onset, severe form associated with motor and cognitive impairment, cerebellar atrophy as well as variable features such as facial dysmorphisms, digital anomalies, microcephaly and epilepsy. SCA42ND inheritance is autosomal dominant. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Retinal dystrophy with leukodystrophy.","acronym":"RDLKD.","accession":"DI-05818","synonyms":null,"cross_references":"MeSH; D058499.","definition":"An autosomal recessive disorder characterized by progressive leukodystrophy associated with developmental delay, spastic paraparesis, ataxia, and retinal dystrophy. Patients may show facial dysmorphism. Laboratory investigations reveal an abnormal profile of very-long chain fatty acid in plasma. ","keywords":"KW-1026:Leukodystrophy.; "},{"identifier":"Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities.","acronym":"RDGCA.","accession":"DI-04272","synonyms":null,"cross_references":"MeSH; D058499.","definition":"An autosomal dominant retinal dystrophy characterized by inner retinal dysfunction in association with ganglion cell abnormalities. Clinical features include mild photophobia, progressive loss of central vision, night blindness, and hyperreflectivity of nerve and ganglion cell layers. ","keywords":null},{"identifier":"Spinocerebellar ataxia 21.","acronym":"SCA21.","accession":"DI-04256","synonyms":null,"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. SCA21 is characterized by onset in the first decades of life of slowly progressive relatively mild cerebellar ataxia associated with slight extrapyramidal features predominant in older patients and cognitive impairment predominant in younger patients. ","keywords":"KW-0950:Spinocerebellar ataxia.; KW-0991:Intellectual disability.; "}]}