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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3360&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3320&ordering=-synonyms",
"results": [
{
"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": "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": "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": "Spinal muscular atrophy with congenital bone fractures 1.",
"acronym": "SMABF1.",
"accession": "DI-04681",
"synonyms": "Spinal muscular atrophy, type I, with congenital bone fractures.; ",
"cross_references": "MeSH; D009134.",
"definition": "An autosomal recessive neuromuscular disorder characterized by prenatal-onset spinal muscular atrophy, multiple congenital contractures consistent with arthrogryposis multiplex congenita, respiratory distress, and congenital bone fractures. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant.",
"acronym": "SMALED2B.",
"accession": "DI-05467",
"synonyms": "Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant.; ",
"cross_references": "MeSH; D009134.",
"definition": "An autosomal dominant neuromuscular disorder characterized by decreased fetal movements, fractures in utero, severe congenital joint contractures, arthrogryposis multiplex congenita, severe hypotonia, muscle atrophy, and respiratory insufficiency and failure due to muscle weakness. Some patients may have dysmorphic facial features and/or abnormalities on brain imaging. Death in early childhood may occur. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Neural tube defects.",
"acronym": "NTD.",
"accession": "DI-02042",
"synonyms": "Spina bifida.; ",
"cross_references": "MeSH; D009436.",
"definition": "Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 10.",
"acronym": "SPGF10.",
"accession": "DI-03528",
"synonyms": "Spermatogenic failure with defective sperm annulus.; ",
"cross_references": "MeSH; D007248.",
"definition": "An infertility disorder caused by spermatogenesis defects. It results in decreased sperm motility, concentration, and multiple sperm structural defects. The most prominent feature is a defective sperm annulus, a ring structure that demarcates the midpiece and the principal piece of the sperm tail. ",
"keywords": null
},
{
"identifier": "Dyslexia 2.",
"acronym": "DYX2.",
"accession": "DI-01511",
"synonyms": "Specific reading disability type 2.; ",
"cross_references": "MedGen; C1838436.",
"definition": "A relatively common, complex cognitive disorder characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities. It is a multifactorial trait, with evidence for familial clustering and heritability. ",
"keywords": null
},
{
"identifier": "Diencephalic-mesencephalic junction dysplasia syndrome 2.",
"acronym": "DMJDS2.",
"accession": "DI-05683",
"synonyms": "Spastic tetraparesis, dystonia, developmental delay, and structural abnormalities of the basal ganglia.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder with onset at birth, characterized by severe global developmental delay, hypotonia, spastic tetraparesis, generalized dystonia and severe intellectual impairment. Brain imaging shows a unique brain malformation characterized by agenesis of putamina and globi pallidi, dysgenesis of the caudate nuclei, olfactory bulbs hypoplasia, and anomaly of the diencephalic-mesencephalic junction with abnormal corticospinal tract course. ",
"keywords": "KW-0991:Intellectual disability.; KW-1023:Dystonia.; "
},
{
"identifier": "Spastic paraplegia 2, X-linked.",
"acronym": "SPG2.",
"accession": "DI-01052",
"synonyms": "Spastic paraplegia 2.; SPPX2.; ",
"cross_references": "MeSH; D015419.",
"definition": "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG2 is characterized by spastic gait and hyperreflexia. In some patients, complicating features include nystagmus, dysarthria, sensory disturbance, intellectual disability, optic atrophy. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Spastic paraplegia 1, X-linked.",
"acronym": "SPG1.",
"accession": "DI-01051",
"synonyms": "Spastic paraplegia 1.; ",
"cross_references": "MeSH; D015419.",
"definition": "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Spastic paraplegia 20, autosomal recessive.",
"acronym": "SPG20.",
"accession": "DI-01047",
"synonyms": "Spastic paraparesis childhood-onset with distal muscle wasting.; Spastic paraplegia autosomal recessive Troyer type.; Troyer syndrome.; TRS.; ",
"cross_references": "MeSH; D015419.",
"definition": "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG20 is characterized by dysarthria, distal amyotrophy, mild developmental delay and short stature. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Spinocerebellar ataxia, autosomal recessive, 14.",
"acronym": "SCAR14.",
"accession": "DI-03864",
"synonyms": "SPARCA1.; Spectrin-associated autosomal recessive cerebellar ataxia 1.; ",
"cross_references": "MeSH; D013132.",
"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. SCAR14 is characterized by delayed psychomotor development, severe early onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal recessive 74.",
"acronym": "MRT74.",
"accession": "DI-04855",
"synonyms": "SOTOS3.; Sotos syndrome 3.; ",
"cross_references": "MeSH; D008607.",
"definition": "A disorder characterized by intellectual impairment, macrocephaly, and dysmorphic features. Epilepsy with eyelid myoclonus has also been reported. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neuronopathy, distal hereditary motor, autosomal recessive 8.",
"acronym": "HMNR8.",
"accession": "DI-05855",
"synonyms": "SORDD.; ",
"cross_references": "MeSH; D009468.",
"definition": "An autosomal recessive disorder characterized by motor axonal neuropathy, slowly progressive distal muscle weakness mainly affecting the lower limbs, difficulty walking, and increased serum sorbitol. Additional variable features are distal sensory impairment, upper limb tremor, scoliosis, and mild hearing loss. ",
"keywords": "KW-0622:Neuropathy.; "
},
{
"identifier": "Short stature, optic nerve atrophy, and Pelger-Huet anomaly.",
"acronym": "SOPH.",
"accession": "DI-03531",
"synonyms": "SOPH syndrome.; ",
"cross_references": "MeSH; D010381.",
"definition": "An autosomal recessive syndrome characterized by severe postnatal growth retardation, facial dysmorphism with senile face, small hands and feet, normal intelligence, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly), and optic atrophy with loss of visual acuity and color vision. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis.",
"acronym": "SOFT.",
"accession": "DI-03517",
"synonyms": "SOFT syndrome.; ",
"cross_references": "MeSH; D009260.",
"definition": "A syndrome characterized by severely short long bones, peculiar facies associated with paucity of hair, and nail anomalies. Growth retardation is evident on prenatal ultrasound as early as the second trimester of pregnancy, and affected individuals reach a final stature consistent with a height age of 6 years to 8 years. Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Psychomotor development is normal. Facial dysmorphism includes a long, triangular face with prominent nose and small ears, and affected individuals have an unusual high- pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal phalanges and fingernails are present in association with postpubertal sparse and short hair. Typical skeletal findings include short and thick long bones with mild irregular metaphyseal changes, short femoral necks, and hypoplastic pelvis and sacrum. All long bones of the hand are short, with major delay of carpal ossification and cone- shaped epiphyses. Vertebral body ossification is also delayed. ",
"keywords": "KW-0242:Dwarfism.; KW-1063:Hypotrichosis.; KW-1186:Ciliopathy.; "
},
{
"identifier": "Spastic tetraplegia and axial hypotonia, progressive.",
"acronym": "STAHP.",
"accession": "DI-05666",
"synonyms": "SOD1 deficiency, autosomal recessive.; ",
"cross_references": "MeSH; D011782.",
"definition": "An autosomal recessive, neurologic disorder characterized by loss of motor abilities in the first year of life, after which severe, progressive spastic tetraparesis develops. Affected individuals have severe axial hypotonia, hyperekplexia, hypertonia, and myokymia, reflecting upper motor neuron involvement. Cognitive development may be affected. ",
"keywords": null
},
{
"identifier": "Spondyloepimetaphyseal dysplasia, short limb-hand type.",
"acronym": "SEMD-SL.",
"accession": "DI-02538",
"synonyms": "SMED short limb-abnormal calcification type.; SMED short limb-hand type.; SMED-SL.; SMED-SL/AC.; SMED type II.; Spondylometaepiphyseal dysplasia short limb-abnormal calcification type.; Spondylometaepiphyseal dysplasia short limb-hand type.; ",
"cross_references": "MeSH; D001848.",
"definition": "A bone disease characterized by short-limbed dwarfism, a narrow chest with pectus excavatum, brachydactyly in the hands and feet, a characteristic craniofacial appearance and premature calcifications. The radiological findings are distinctive and comprise short long bones throughout the skeleton with striking epiphyses that are stippled, flattened and fragmented and flared, irregular metaphyses. Platyspondyly in the spine with wide intervertebral spaces is observed and some vertebral bodies are pear-shaped with central humps, anterior protrusions and posterior scalloping. ",
"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.; "
}
]
}