Human Disease List
GET /api/human_diseases/?format=api&offset=4700&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4720&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4680&ordering=-identifier", "results": [ { "identifier": "Dystonia 25.", "acronym": "DYT25.", "accession": "DI-03651", "synonyms": "Dystonia-25.; ", "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. DYT25 is an autosomal dominant neurologic disorder characterized by adult onset of focal dystonia, usually involving the neck. The dystonia most often progresses to involve other regions, particularly the face and laryngeal muscles, and less commonly the trunk and limbs. ", "keywords": "KW-1023:Dystonia.; " }, { "identifier": "Dystonia 24.", "acronym": "DYT24.", "accession": "DI-03682", "synonyms": "Dystonia-24.; ", "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. DYT24 is an autosomal dominant focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs. ", "keywords": "KW-1023:Dystonia.; " }, { "identifier": "Dystonia 23.", "acronym": "DYT23.", "accession": "DI-04376", "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. DYT23 is an autosomal dominant dystonia affecting the face, neck, limbs. Some DYT23 patients manifest generalized myoclonus in addition to progressive action-induced multifocal dystonia. ", "keywords": "KW-1023:Dystonia.; " }, { "identifier": "Dystonia 22, juvenile-onset.", "acronym": "DYT22JO.", "accession": "DI-06726", "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. DYT22JO is an autosomal recessive form characterized by progressive, generalized dystonia associated with intellectual disability, cognitive decline, and cerebellar atrophy. ", "keywords": "KW-0991:Intellectual disability.; KW-1023:Dystonia.; " }, { "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": "Dystonia 1, torsion, autosomal dominant.", "acronym": "DYT1.", "accession": "DI-00413", "synonyms": "Autosomal dominant torsion dystonia 1.; Dystonia-1.; Dystonia musculorum deformans 1.; Early-onset torsion dystonia.; EOTD.; Oppenheim's dystonia.; Oppenheim-Ziehen disease.; ", "cross_references": "MeSH; D004422.", "definition": "A primary torsion dystonia, and the most common and severe form. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 1 is characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body, in the absence of other neurological symptoms. Typically, symptoms develop first in an arm or leg in middle to late childhood and progress in approximately 30% of patients to other body regions (generalized dystonia) within about five years. 'Torsion' refers to the twisting nature of body movements observed in DYT1, often affecting the trunk. Distribution and severity of symptoms vary widely between affected individuals, ranging from mild focal dystonia to severe generalized dystonia, even within families. ", "keywords": "KW-1023:Dystonia.; " }, { "identifier": "Dystonia 16.", "acronym": "DYT16.", "accession": "DI-00420", "synonyms": "Dystonia-16.; ", "cross_references": "MeSH; D004421.", "definition": "An early-onset dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT16 patients have progressive, generalized dystonia with axial muscle involvement, oro-mandibular (sardonic smile) and laryngeal dystonia and, in some cases, parkinsonian features. ", "keywords": "KW-0908:Parkinsonism.; KW-1023:Dystonia.; " }, { "identifier": "Dystonia 12.", "acronym": "DYT12.", "accession": "DI-00419", "synonyms": "Dystonia-12.; Rapid-onset dystonia-parkinsonism.; RDP.; ", "cross_references": "MeSH; D004421.", "definition": "An autosomal dominant dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT12 patients develop dystonia and parkinsonism between 15 and 45 years of age. The disease is characterized by an unusually rapid evolution of signs and symptoms. The sudden onset of symptoms over hours to a few weeks, often associated with physical or emotional stress, suggests a trigger initiating a nervous system insult resulting in permanent neurologic disability. ", "keywords": "KW-0908:Parkinsonism.; KW-1023:Dystonia.; " }, { "identifier": "Dystonia 11, myoclonic.", "acronym": "DYT11.", "accession": "DI-00418", "synonyms": "Alcohol-responsive dystonia.; Dystonia-11.; Myoclonic dystonia.; Myoclonus-dystonia syndrome.; ", "cross_references": "MeSH; D009207.", "definition": "A myoclonic dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT11 is characterized by involuntary lightning jerks and dystonic movements and postures alleviated by alcohol. Inheritance is autosomal dominant. The age of onset, pattern of body involvement, presence of myoclonus and response to alcohol are all variable. ", "keywords": "KW-1023:Dystonia.; " }, { "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": "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": "Dyslexia 1.", "acronym": "DYX1.", "accession": "DI-02608", "synonyms": "Congenital word-blindness.; Dyslexia 4.; Dyslexia 7.; DYX4.; DYX7.; Specific reading disability type 1.; ", "cross_references": "MedGen; C1851969.", "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": "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": "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": "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": "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.; " } ] }