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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5100&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5060&ordering=-synonyms",
"results": [
{
"identifier": "Developmental and epileptic encephalopathy 3.",
"acronym": "DEE3.",
"accession": "DI-00473",
"synonyms": "Early myoclonic encephalopathy.; EIEE3.; EME.; Epileptic encephalopathy, early infantile, 3.; Neonatal epilepsy with suppression-burst pattern.; ",
"cross_references": "MeSH; D013036.",
"definition": "A severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. DEE3 is characterized by a very early onset, erratic and fragmentary myoclonus, massive myoclonus, partial motor seizures and late tonic spasms. The prognosis is poor, with no effective treatment, and children with the condition either die within 1 to 2 years after birth or survive in a persistent vegetative state. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Episodic ataxia 6.",
"acronym": "EA6.",
"accession": "DI-00477",
"synonyms": "EA-6.; ",
"cross_references": "MeSH; D001259.",
"definition": "A disorder characterized by episodic ataxia, seizures, migraine and alternating hemiplegia. ",
"keywords": null
},
{
"identifier": "Episodic ataxia 5.",
"acronym": "EA5.",
"accession": "DI-03073",
"synonyms": "EA-5.; ",
"cross_references": "MeSH; D001259.",
"definition": "A disorder characterized by episodes of vertigo and ataxia that last for several hours. Interictal examination show spontaneous downbeat and gaze-evoked nystagmus, mild dysarthria and truncal ataxia. ",
"keywords": null
},
{
"identifier": "Hyperthyroxinemia, dystransthyretinemic.",
"acronym": "DTTRH.",
"accession": "DI-01785",
"synonyms": "Dystransthyretinemic euthyroidal hyperthyroxinemia.; Euthryroidal hyperthyroxinemia 2.; Hyperthyroxinemia dysprealbuminemic.; Hyperthyroxinemia dystransthyretinemic.; ",
"cross_references": "MeSH; D006981.",
"definition": "A condition characterized by elevation of total and free thyroxine in healthy, euthyroid persons without detectable binding protein abnormalities. ",
"keywords": null
},
{
"identifier": "Parkinson disease 14.",
"acronym": "PARK14.",
"accession": "DI-02500",
"synonyms": "Dystonia-parkinsonism adult-onset.; Dystonia-parkinsonism Paisan-Ruiz type.; Parkinson disease 14 autosomal recessive.; ",
"cross_references": "MeSH; D020734.",
"definition": "An adult-onset progressive neurodegenerative disorder characterized by parkinsonism, dystonia, severe cognitive decline, cerebral and cerebellar atrophy and absent iron in the basal ganglia on magnetic resonance imaging. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0907:Parkinson disease.; KW-0908:Parkinsonism.; KW-1023:Dystonia.; "
},
{
"identifier": "Dystonia 2, torsion, autosomal recessive.",
"acronym": "DYT2.",
"accession": "DI-04436",
"synonyms": "Dystonia musculorum deformans 2.; Torsion dystonia 2.; ",
"cross_references": "MeSH; D004422.",
"definition": "A form of torsion dystonia, a disease defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. 'Torsion' refers to the twisting nature of body movements, often affecting the trunk. DYT2 is a slowly progressive form that first affects distal limbs and later involves the neck, orofacial, and craniocervical regions. ",
"keywords": "KW-1023:Dystonia.; "
},
{
"identifier": "Dystonia 4, torsion, autosomal dominant.",
"acronym": "DYT4.",
"accession": "DI-03777",
"synonyms": "Dystonia-4.; Dystonia musculorum deformans 4.; Hereditary whispering dysphonia.; ",
"cross_references": "MeSH; D004422.",
"definition": "A form of torsion dystonia, a disease defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. 'Torsion' refers to the twisting nature of body movements, often affecting the trunk. DYT4 is characterized by onset in the second to third decade of progressive laryngeal dysphonia followed by the involvement of other muscles, such as the neck or limbs. Some patients develop an ataxic gait. ",
"keywords": "KW-1023:Dystonia.; "
},
{
"identifier": "Dystonia 3, torsion, X-linked.",
"acronym": "DYT3.",
"accession": "DI-00414",
"synonyms": "Dystonia-3.; Lubag.; Torsion dystonia-parkinsonism Filipino type.; XDP.; X-linked dystonia-parkinsonism.; X-linked torsion dystonia 3.; ",
"cross_references": "MeSH; D004421.",
"definition": "An X-linked dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT3 is characterized by severe progressive torsion dystonia followed by parkinsonism. It has a well-defined pathology of extensive neuronal loss and mosaic gliosis in the striatum (caudate nucleus and putamen) which appears to resemble that in Huntington disease. ",
"keywords": "KW-0908:Parkinsonism.; KW-1023:Dystonia.; "
},
{
"identifier": "Episodic kinesigenic dyskinesia 3.",
"acronym": "EKD3.",
"accession": "DI-06612",
"synonyms": "Dystonia 36.; DYT36.; ",
"cross_references": "MeSH; D004421.",
"definition": "A form of paroxysmal kinesigenic dyskinesia, a neurologic condition characterized by recurrent and brief attacks of abnormal involuntary movements. These attacks can involve dystonic postures, chorea, or athetosis. EKD3 is an autosomal dominant form with incomplete penetrance and onset in late childhood or early adolescence. Symptoms are usually triggered by sudden movement or stress, and resolve in most patients in their early twenties or later. ",
"keywords": "KW-1023:Dystonia.; "
},
{
"identifier": "Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities.",
"acronym": "DYTOABG.",
"accession": "DI-04936",
"synonyms": "Dystonia 29, childhood-onset.; DYT29.; MEPAN syndrome.; ",
"cross_references": "MeSH; D020821.",
"definition": "An autosomal recessive neurologic disorder characterized by childhood- onset dystonia, basal ganglia degeneration and optic atrophy with decreased visual acuity. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYTOABG severity is variable, and some patients lose independent ambulation. ",
"keywords": "KW-1023:Dystonia.; "
},
{
"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": "GLUT1 deficiency syndrome 2.",
"acronym": "GLUT1DS2.",
"accession": "DI-00421",
"synonyms": "Dystonia 18.; Dystonia-18.; DYT18.; Paroxysmal exercise-induced dystonia.; Paroxysmal exercise-induced dystonia with or without epilepsy and/or hemolytic anemia.; Paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia.; PED with or without epilepsy and/or hemolytic anemia.; ",
"cross_references": "MeSH; D004421.",
"definition": "A clinically variable disorder characterized primarily by onset in childhood of paroxysmal exercise-induced dyskinesia. The dyskinesia involves transient abnormal involuntary movements, such as dystonia and choreoathetosis, induced by exercise or exertion, and affecting the exercised limbs. Some patients may also have epilepsy, most commonly childhood absence epilepsy. Mild intellectual disability may also occur. In some patients involuntary exertion-induced dystonic, choreoathetotic, and ballistic movements may be associated with macrocytic hemolytic anemia. ",
"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": "Episodic kinesigenic dyskinesia 1.",
"acronym": "EKD1.",
"accession": "DI-03309",
"synonyms": "Dystonia 10.; DYT10.; Familial paroxysmal dystonia.; Paroxysmal kinesigenic choreoathetosis.; Paroxysmal kinesigenic dyskinesia.; PKC.; PKD.; ",
"cross_references": "MeSH; D004421.",
"definition": "An autosomal dominant form of paroxysmal kinesigenic dyskinesia, a neurologic condition characterized by recurrent and brief attacks of abnormal involuntary movements, triggered by sudden voluntary movement. These attacks usually have onset during childhood or early adulthood and can involve dystonic postures, chorea, or athetosis. ",
"keywords": "KW-1023:Dystonia.; "
},
{
"identifier": "Factor II deficiency.",
"acronym": "FA2D.",
"accession": "DI-02664",
"synonyms": "Dysprothrombinemia.; Hypoprothrombinemia.; Prothrombin deficiency.; ",
"cross_references": "MeSH; D007020.",
"definition": "A very rare blood coagulation disorder characterized by mucocutaneous bleeding symptoms. The severity of the bleeding manifestations correlates with blood factor II levels. ",
"keywords": null
},
{
"identifier": "Plasminogen deficiency.",
"acronym": "PLGD.",
"accession": "DI-02666",
"synonyms": "Dysplasminogenemia.; Hypoplasminogenemia.; Ligneous conjunctivitis.; Plasminogen deficiency type I.; Plasminogen deficiency type II.; ",
"cross_references": "MeSH; D003231.",
"definition": "A disorder characterized by decreased serum plasminogen activity. Two forms of the disorder are distinguished: type 1 deficiency is additionally characterized by decreased plasminogen antigen levels and clinical symptoms, whereas type 2 deficiency, also known as dysplasminogenemia, is characterized by normal, or slightly reduced antigen levels, and absence of clinical manifestations. Plasminogen deficiency type 1 results in markedly impaired extracellular fibrinolysis and chronic mucosal pseudomembranous lesions due to subepithelial fibrin deposition and inflammation. The most common clinical manifestation of type 1 deficiency is ligneous conjunctivitis in which pseudomembranes formation on the palpebral surfaces of the eye progresses to white, yellow-white, or red thick masses with a wood-like consistency that replace the normal mucosa. ",
"keywords": null
},
{
"identifier": "Ectodermal dysplasia 3, Witkop type.",
"acronym": "ECTD3.",
"accession": "DI-01148",
"synonyms": "Dysplasia of nails with hypodontia.; Ectodermal dysplasia 3, tooth/nail type.; Hypodontia-nail dysgenesis.; TNS.; Tooth-and-nail syndrome.; Witkop syndrome.; ",
"cross_references": "MeSH; D004476.",
"definition": "A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD3 is characterized by abnormalities largely limited largely to teeth (some of which are missing) and nails (which are poorly formed early in life, especially toenails). This condition is distinguished from anhidrotic ectodermal dysplasia by autosomal dominant inheritance and little involvement of hair and sweat glands. The teeth are not as severely affected. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Dyskeratosis congenita, autosomal recessive, 4.",
"acronym": "DKCB4.",
"accession": "DI-03166",
"synonyms": "Dyskeratosis congenita Scoggins type.; ",
"cross_references": "MeSH; D019871.",
"definition": "A severe 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.; "
}
]
}