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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3540&ordering=synonyms",
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"results": [
{
"identifier": "Dyskeratosis congenita, X-linked.",
"acronym": "DKCX.",
"accession": "DI-00409",
"synonyms": "Zinsser-Cole-Engman syndrome.; ",
"cross_references": "MeSH; D019871.",
"definition": "A rare, progressive bone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. ",
"keywords": "KW-1011:Dyskeratosis congenita.; "
},
{
"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 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": "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": "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 26, myoclonic.",
"acronym": "DYT26.",
"accession": "DI-04408",
"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. DYT26 is an autosomal dominant, progressive disorder characterized by a combination of non-epileptic myoclonic jerks and dystonia. Affected individuals manifest myoclonic jerks in the upper limbs during the first or second decade of life, and later develop dystonia with predominant involvement of the craniocervical regions and sometimes the trunk and/or lower limbs. ",
"keywords": "KW-1023:Dystonia.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 31.",
"acronym": "COXPD31.",
"accession": "DI-04916",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive, severe mitochondrial disease with multisystemic manifestations appearing soon after birth or in early infancy. Clinical features include left ventricular non-compaction, global developmental delay, severe hypotonia, seizures, cataract, and abnormal movements. Death may occur in early childhood. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"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 22, adult-onset.",
"acronym": "DYT22AO.",
"accession": "DI-06727",
"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. DYT22AO is an autosomal recessive form characterized by focal dystonia or tremor and mild cognitive impairment. ",
"keywords": "KW-1023:Dystonia.; "
},
{
"identifier": "Autoinflammatory syndrome, familial, with or without immunodeficiency.",
"acronym": "AISIMD.",
"accession": "DI-06141",
"synonyms": null,
"cross_references": "MeSH; D056660.",
"definition": "An autosomal dominant, autoinflammatory disorder with incomplete penetrance characterized by autoimmune cytopenia, hemolytic anemia, thrombocytopenia, and lymphadenopathy. Additional variable features may include autoimmune thyroiditis, psoriasis or eczema, nephritis, hepatitis, and symptoms of systemic lupus erythematosus. Immunodeficiency is present in some patients. Disease onset is usually in the first decades of life, although later onset has been reported. ",
"keywords": null
},
{
"identifier": "Dyssegmental dysplasia Silverman-Handmaker type.",
"acronym": "DDSH.",
"accession": "DI-01512",
"synonyms": null,
"cross_references": "MedGen; C1857100.",
"definition": "The dyssegmental dysplasias are rare, autosomal recessive skeletal dysplasias with anisospondyly and micromelia. There are two recognized types: the severe, lethal DDSH and the milder Rolland-Desbuquois form. Individuals with DDSH also have a flat face, micrognathia, cleft palate and reduced joint mobility, and frequently have an encephalocoele. The endochondral growth plate is short, the calcospherites (which are spherical calcium-phosphorus crystals produced by hypertrophic chondrocytes) are unfused, and there is mucoid degeneration of the resting cartilage. ",
"keywords": null
},
{
"identifier": "Dysostosis multiplex, Ain-Naz type.",
"acronym": "DMAN.",
"accession": "DI-06118",
"synonyms": null,
"cross_references": "MeSH; D004413.",
"definition": "An autosomal recessive, severe skeletal disease characterized by features of dysostosis multiplex, severe short stature, coarse facies with broad nose and prominent lips, protruding abdomens, and progressive skeletal changes causing gradual mobility loss. Death in childhood or early adulthood may occur. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Autoinflammatory syndrome, familial, Behcet-like 1.",
"acronym": "AIFBL1.",
"accession": "DI-04635",
"synonyms": null,
"cross_references": "MeSH; D056660.",
"definition": "An autosomal dominant, autoinflammatory disorder with early onset, characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas. Additional variable features include skin rash, uveitis, and polyarthritis. ",
"keywords": null
},
{
"identifier": "Amyotrophic lateral sclerosis 13.",
"acronym": "ALS13.",
"accession": "DI-02859",
"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": "Dyskinesia, limb and orofacial, infantile-onset.",
"acronym": "IOLOD.",
"accession": "DI-04707",
"synonyms": null,
"cross_references": "MeSH; D020820.",
"definition": "An autosomal recessive, early-onset hyperkinetic movement disorder characterized by axial hypotonia, dyskinesia of the limbs and trunk, orofacial dyskinesia, drooling, and dysarthria. The severity of the hyperkinesis is variable. ",
"keywords": null
},
{
"identifier": "Dyskinesia, familial, with facial myokymia.",
"acronym": "FDFM.",
"accession": "DI-03514",
"synonyms": null,
"cross_references": "MeSH; D020820.",
"definition": "A disorder characterized by predominantly perioral and periorbital myokymia, and face, neck and upper limb dystonic/choreic movements. Initially paroxysmal and worsened by stress, the dyskinetic episodes become nearly constant by the end of the third decade of life, but in some individuals, they may diminish in frequency and severity at older ages. ",
"keywords": null
},
{
"identifier": "Dyskinesia with orofacial involvement, autosomal recessive.",
"acronym": "DSKOR.",
"accession": "DI-06289",
"synonyms": null,
"cross_references": "MeSH; D020820.",
"definition": "An autosomal recessive disorder characterized by abnormal involuntary movements mainly affecting the limbs and causing walking difficulties, oro-facial dyskinesia, and speech delay. Some patients develop neuropsychiatric features. Cardiomyopathy has rarely been described and may be a manifestation of the disorder. ",
"keywords": null
},
{
"identifier": "Dyskeratosis congenita, digenic.",
"acronym": "DKCD.",
"accession": "DI-06506",
"synonyms": null,
"cross_references": "MeSH; D019871.",
"definition": "A form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. DKCD transmission pattern is consistent with digenic inheritance. ",
"keywords": "KW-1011:Dyskeratosis congenita.; "
},
{
"identifier": "Dyskeratosis congenita, autosomal recessive, 8.",
"acronym": "DKCB8.",
"accession": "DI-06549",
"synonyms": null,
"cross_references": "MeSH; D019871.",
"definition": "A form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. Additional DKCB8 features include microcephaly, intrauterine growth retardation, and developmental anomalies in some patients. DKCB8 patients exhibit normal global telemore length, although there is evidence of telomere instability. ",
"keywords": "KW-1011:Dyskeratosis congenita.; "
},
{
"identifier": "Dyskeratosis congenita, autosomal recessive, 7.",
"acronym": "DKCB7.",
"accession": "DI-04522",
"synonyms": null,
"cross_references": "MeSH; D019871.",
"definition": "A form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. ",
"keywords": "KW-1011:Dyskeratosis congenita.; "
}
]
}