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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2060&ordering=-synonyms",
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"results": [
{
"identifier": "Dystonia 27.",
"acronym": "DYT27.",
"accession": "DI-04449",
"synonyms": null,
"cross_references": "MeSH; D004421.",
"definition": "A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT27 is an autosomal recessive form characterized by segmental isolated dystonia involving the face, neck, bulbar muscles, and upper limbs. ",
"keywords": "KW-1023:Dystonia.; "
},
{
"identifier": "Dystonia 28, childhood-onset.",
"acronym": "DYT28.",
"accession": "DI-04935",
"synonyms": null,
"cross_references": "MeSH; D004421.",
"definition": "A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT28 is an autosomal dominant, progressive form characterized by onset in the first decade of life and variable severity. Dystonia begins focally in the lower limbs, resulting in gait difficulties, with later progression to other body regions, including the upper limbs, neck, and orofacial region. ",
"keywords": "KW-1023:Dystonia.; "
},
{
"identifier": "Autoinflammatory-pancytopenia syndrome.",
"acronym": "AIPCS.",
"accession": "DI-06407",
"synonyms": null,
"cross_references": "MeSH; D010198.",
"definition": "An autosomal recessive disorder characterized by severe anemia and thrombocytopenia apparent from early infancy, hepatosplenomegaly, and recurrent fevers associated with a hyperinflammatory state. Additional systemic features may include chronic diarrhea, proteinuria with renal disease, liver fibrosis with elevated liver enzymes, deforming arthropathy, and vasculitic skin lesions. Some patients may have motor delay or learning difficulties associated with subcortical white matter lesions on brain imaging. ",
"keywords": null
},
{
"identifier": "Dystonia 30.",
"acronym": "DYT30.",
"accession": "DI-06091",
"synonyms": null,
"cross_references": "MeSH; D004421.",
"definition": "A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT30 is characterized by early onset and predominantly cervical, bulbar, orofacial, and upper limb involvement. Some patients have a more complex phenotype with neurocognitive impairment, including mild intellectual disability or psychiatric manifestations. Loss of ambulation is observed in some cases. DYT30 inheritance is autosomal dominant with incomplete penetrance. ",
"keywords": "KW-1023:Dystonia.; "
},
{
"identifier": "Immunodeficiency 119.",
"acronym": "IMD119.",
"accession": "DI-06903",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive immunologic disorder characterized by childhood-onset of recurrent respiratory tract infections, susceptibility to chronic DNA-based viral infections, hypogammaglobulinemia, and panlymphopenia. ",
"keywords": null
},
{
"identifier": "Dystonia 32.",
"acronym": "DYT32.",
"accession": "DI-06279",
"synonyms": null,
"cross_references": "MeSH; D004421.",
"definition": "A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT32 is an autosomal recessive, slowly progressive form with onset in adulthood and generalized involvement of the limbs, trunk, neck, and larynx, resulting in dysarthria and dysphagia. Brain imaging may show abnormalities in the basal ganglia. ",
"keywords": "KW-1023:Dystonia.; "
},
{
"identifier": "Dystonia 33.",
"acronym": "DYT33.",
"accession": "DI-06304",
"synonyms": null,
"cross_references": "MeSH; D004421.",
"definition": "A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT33 is a slowly progressive form characterized by onset of focal or generalized dystonia in the first decades of life. Disease manifestations are variable. Some patients show ambulation difficulties, dysarthria, or dysphagia. Some affected individuals may manifest motor delay, lower limb spasticity, and mild developmental delay with intellectual disability. DYT33 penetrance is incomplete. Inheritance can be autosomal dominant or recessive. ",
"keywords": "KW-1023:Dystonia.; "
},
{
"identifier": "Dystonia 34, myoclonic.",
"acronym": "DYT34.",
"accession": "DI-06323",
"synonyms": null,
"cross_references": "MeSH; D004421.",
"definition": "A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT34 is an autosomal dominant form characterized by childhood-onset dystonia predominantly affecting hands and neck, with a fast tremor with superimposed myoclonus and, in some individuals, subtle cerebellar signs. ",
"keywords": "KW-1023:Dystonia.; "
},
{
"identifier": "Dystonia 35, childhood-onset.",
"acronym": "DYT35.",
"accession": "DI-06446",
"synonyms": null,
"cross_references": "MeSH; D004421.",
"definition": "A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT35 is an autosomal recessive form characterized by the onset of a dystonic movement disorder in the first year of life. ",
"keywords": "KW-1023:Dystonia.; "
},
{
"identifier": "Dystonia 37, early-onset, with striatal lesions.",
"acronym": "DYT37.",
"accession": "DI-06706",
"synonyms": null,
"cross_references": "MeSH; D004421.",
"definition": "A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT37 is an autosomal recessive form characterized by the onset of progressive dystonia, dysphagia, and choreoathetosis in the first months or years of life. Affected individuals show delayed motor development and may have impaired intellectual development. ",
"keywords": "KW-1023:Dystonia.; "
},
{
"identifier": "Avascular necrosis of the femoral head, primary 2.",
"acronym": "ANFH2.",
"accession": "DI-04965",
"synonyms": null,
"cross_references": "MeSH; D005271.",
"definition": "A disease characterized by mechanical failure of the subchondral bone, and degeneration of the hip joint. It usually leads to destruction of the hip joint in the third to fifth decade of life. The clinical manifestations, such as pain on exertion, a limping gait, and a discrepancy in leg length, cause considerable disability. ",
"keywords": null
},
{
"identifier": "Ehlers-Danlos syndrome, musculocontractural type 2.",
"acronym": "EDSMC2.",
"accession": "DI-03960",
"synonyms": null,
"cross_references": "MeSH; D004535.",
"definition": "A form of Ehlers-Danlos syndrome characterized by progressive multisystem manifestations, including joint dislocations and deformities, skin hyperextensibility, skin bruisability and fragility with recurrent large subcutaneous hematomas, cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications. Motor developmental delay is associated with muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood. ",
"keywords": "KW-0248:Ehlers-Danlos syndrome.; "
},
{
"identifier": "Hypotonia, infantile, with psychomotor retardation and characteristic facies 3.",
"acronym": "IHPRF3.",
"accession": "DI-04694",
"synonyms": null,
"cross_references": "MeSH; D009422.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by profound developmental disability, intellectual disability and severe hypotonia. Many patients have seizures, and show brain atrophy, dysgenesis of the corpus callosum and white-matter changes on neuroimaging. Non-specific facial dysmorphism is noted in some individuals. ",
"keywords": null
},
{
"identifier": "Harderoporphyria.",
"acronym": "HARPO.",
"accession": "DI-05848",
"synonyms": null,
"cross_references": "MeSH; D011164.",
"definition": "An autosomal recessive form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. HARPO is a rare erythropoietic variant form characterized by neonatal hemolytic anemia, sometimes accompanied by skin lesions, and massive excretion of harderoporphyrin in feces. ",
"keywords": "KW-0360:Hereditary hemolytic anemia.; "
},
{
"identifier": "Amyotrophic lateral sclerosis 18.",
"acronym": "ALS18.",
"accession": "DI-03520",
"synonyms": null,
"cross_references": "MeSH; D000690.",
"definition": "A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; "
},
{
"identifier": "Epidermodysplasia verruciformis 4.",
"acronym": "EV4.",
"accession": "DI-05470",
"synonyms": null,
"cross_references": "MeSH; D004819.",
"definition": "A form of epidermodysplasia verruciformis, a rare genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses, including the oncogenic HPV5. Infection leads to the early development of disseminated flat wart-like and pityriasis versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and invasive squamous cell carcinomas develop in about half of the patients, mainly on sun-exposed skin areas. EV4 patients have decreased number of naive T cells, increased memory and effector T cells, and impaired T-cell receptor signaling. EV4 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Epilepsy, progressive myoclonic 9.",
"acronym": "EPM9.",
"accession": "DI-04510",
"synonyms": null,
"cross_references": "MeSH; D020191.",
"definition": "A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM9 is an autosomal recessive form characterized by myoclonus, tonic-clonic seizures, ataxia, and delayed psychomotor development. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; "
},
{
"identifier": "Dystonia, early-onset, and/or spastic paraplegia.",
"acronym": "DYTSPG.",
"accession": "DI-06301",
"synonyms": null,
"cross_references": "MeSH; D020821.",
"definition": "An autosomal dominant, highly penetrant movement disorder characterized by spastic paraplegia and/or dystonia to varying degrees in affected individuals. Cognition is not affected. There is high intra- and interfamilial variability in phenotype and age of onset. Some patients have onset of progressive focal or generalized dystonia in the first decade, whereas others develop progressive spastic paraplegia as adults. Some affected individuals have manifestations of both disorders. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; KW-1023:Dystonia.; "
},
{
"identifier": "Hemolytic anemia due to glutathione reductase deficiency.",
"acronym": "HAGRD.",
"accession": "DI-05704",
"synonyms": null,
"cross_references": "MeSH; D000745.",
"definition": "An autosomal recessive disease characterized by hemolytic anemia and impaired activity of glutathione reductase. Patients experience hemolytic anemia in response to oxidative stress or ingestion of fava beans. ",
"keywords": "KW-0360:Hereditary hemolytic anemia.; "
},
{
"identifier": "Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency.",
"acronym": "CMS9.",
"accession": "DI-04400",
"synonyms": null,
"cross_references": "MeSH; D020294.",
"definition": "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS9 is a disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current. ",
"keywords": "KW-1004:Congenital myasthenic syndrome.; "
}
]
}