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{
"identifier": "Cardiofaciocutaneous syndrome 3.",
"acronym": "CFC3.",
"accession": "DI-03780",
"synonyms": null,
"cross_references": "MeSH; D006330.",
"definition": "A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and intellectual disability. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. Distinctive features of CFC3 include macrostomia and horizontal shape of palpebral fissures. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-0122:Cardiomyopathy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Epilepsy, idiopathic generalized 13.",
"acronym": "EIG13.",
"accession": "DI-04084",
"synonyms": null,
"cross_references": "MeSH; D004829.",
"definition": "A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, idiopathic generalized 14.",
"acronym": "EIG14.",
"accession": "DI-04596",
"synonyms": null,
"cross_references": "MeSH; D004829.",
"definition": "An autosomal dominant form of idiopathic generalized epilepsy, a disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, idiopathic generalized 15.",
"acronym": "EIG15.",
"accession": "DI-05509",
"synonyms": null,
"cross_references": "MeSH; D004829.",
"definition": "An autosomal dominant form of idiopathic generalized epilepsy, a disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. EIG15 is characterized by onset of variable types of seizures in the first decade of life. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, idiopathic generalized 16.",
"acronym": "EIG16.",
"accession": "DI-05665",
"synonyms": null,
"cross_references": "MeSH; D004829.",
"definition": "An autosomal dominant form of idiopathic generalized epilepsy, a disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. EIG16 is characterized by onset of seizures soon after birth or in the first years of life. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, idiopathic generalized 17.",
"acronym": "EIG17.",
"accession": "DI-06235",
"synonyms": null,
"cross_references": "MeSH; D004829.",
"definition": "A form of idiopathic generalized epilepsy, a disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. Both autosomal dominant and autosomal recessive EIG17 inheritance have been reported. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, idiopathic generalized 18.",
"acronym": "EIG18.",
"accession": "DI-06223",
"synonyms": null,
"cross_references": "MeSH; D004829.",
"definition": "An autosomal dominant form of idiopathic generalized epilepsy, a disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. EIG18 is characterized by onset of myoclonic seizures in infancy. Although the seizures remit, some patients may have later speech or cognitive impairment. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Cardiofaciocutaneous syndrome 2.",
"acronym": "CFC2.",
"accession": "DI-03779",
"synonyms": null,
"cross_references": "MeSH; D006330.",
"definition": "A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and intellectual disability. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. CFC2 patients often do not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma observed in CFC1. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-0122:Cardiomyopathy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Epilepsy, nocturnal frontal lobe, 3.",
"acronym": "ENFL3.",
"accession": "DI-00820",
"synonyms": null,
"cross_references": "MeSH; D017034.",
"definition": "An autosomal dominant focal epilepsy characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Cardioacrofacial dysplasia 2.",
"acronym": "CAFD2.",
"accession": "DI-05998",
"synonyms": null,
"cross_references": "MeSH; D017880.",
"definition": "An autosomal dominant disease characterized by dysmorphic facial features, congenital cardiac defects, primarily common atrium or atrioventricular septal defect, and limb anomalies, including short limbs, brachydactyly and postaxial polydactyly. CAFD2 patients may show developmental delay of variable severity, intellectual disability, autistic features and focal seizures. ",
"keywords": null
},
{
"identifier": "Epilepsy, progressive myoclonic 11.",
"acronym": "EPM11.",
"accession": "DI-05834",
"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. EPM11 is an autosomal dominant form. Clinical features include normal or mildly delayed early development, developmental regression after seizures onset, inability to walk, severely impaired intellectual development, poor or absent speech, spasticity, ataxia, and intention tremor. Brain imaging shows cerebellar atrophy in some patients. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, progressive myoclonic 12.",
"acronym": "EPM12.",
"accession": "DI-06052",
"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. EPM12 is an autosomal recessive form characterized by onset of tonic-clonic seizures and/or myoclonus in the second decade of life. Affected individuals develop cerebellar ataxia associated with progressive cerebral and cerebellar atrophy on brain imaging. Most patients lose ambulation and become wheelchair-bound. Additional more variable features include mild cognitive dysfunction or psychiatric manifestations, such as depression or anxiety. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, progressive myoclonic 1B.",
"acronym": "EPM1B.",
"accession": "DI-00953",
"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. EPM1B is an autosomal recessive form characterized by myoclonus that progressed in severity over time, tonic-clonic seizures and ataxia. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; "
},
{
"identifier": "Cardioacrofacial dysplasia 1.",
"acronym": "CAFD1.",
"accession": "DI-05997",
"synonyms": null,
"cross_references": "MeSH; D017880.",
"definition": "An autosomal dominant disease characterized by dysmorphic facial features, congenital cardiac defects, primarily common atrium or atrioventricular septal defect, and limb anomalies, including short limbs, brachydactyly and postaxial polydactyly. ",
"keywords": null
},
{
"identifier": "Cardiac-urogenital syndrome.",
"acronym": "CUGS.",
"accession": "DI-05461",
"synonyms": null,
"cross_references": "MeSH; D014564.",
"definition": "An autosomal dominant syndrome characterized by partial anomalous pulmonary venous return, tracheal anomalies, pulmonary hypoplasia, congenital diaphragmatic hernia, thyroid fibrosis, thymic involution, cleft spleen, penoscrotal hypospadias, and cryptorchidism. ",
"keywords": null
},
{
"identifier": "Epilepsy, progressive myoclonic 6.",
"acronym": "EPM6.",
"accession": "DI-03161",
"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. EPM6 is an autosomal recessive form characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade. Cognition is not usually affected, although mild memory difficulties may occur in the third decade. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, progressive myoclonic 7.",
"acronym": "EPM7.",
"accession": "DI-04310",
"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. EPM7 is an autosomal dominant form characterized by myoclonic epilepsy apparent in the first or second decades of life. Cognitive function may decline in some patients. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, progressive myoclonic 8.",
"acronym": "EPM8.",
"accession": "DI-04341",
"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. EPM8 is an autosomal recessive form characterized by myoclonus, generalized tonic-clonic seizures and moderate to severe cognitive impairment. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; "
},
{
"identifier": "Cardiac, facial, and digital anomalies with developmental delay.",
"acronym": "CAFDADD.",
"accession": "DI-05370",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal dominant disorder characterized by delayed motor and speech development, developmental regression, congenital heart defects, limb and digital anomalies, and dysmorphic features. Cardiac features include pulmonary stenosis, patent ductus arteriosus, aortic coarctation, valvular defects, hypoplastic left heart, double outlet right ventricle, and conduction abnormalities. Dysmorphic facial features include multiple hair whorls or hairline abnormalities, ptosis, epicanthal folds, and low-set or dysplastic ears. ",
"keywords": null
},
{
"identifier": "Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features.",
"acronym": "EPILX2.",
"accession": "DI-06540",
"synonyms": null,
"cross_references": "MeSH; D004827.",
"definition": "A neurologic disorder characterized by variable combinations of epileptic seizure, and a varying degree of intellectual disability and developmental delay. Some patients have dysmorphic facial features or mild skeletal anomalies. In general, males are more severely affected than females, although there is evidence for incomplete penetrance in both sexes. ",
"keywords": "KW-0887:Epilepsy.; "
}
]
}