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{
"identifier": "Epilepsy, childhood absence 2.",
"acronym": "ECA2.",
"accession": "DI-00297",
"synonyms": null,
"cross_references": "MeSH; D004832.",
"definition": "A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic- clonic seizures often develop in adolescence. Some individuals manifest febrile seizures. Absence seizures may either remit or persist into adulthood. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, childhood absence 4.",
"acronym": "ECA4.",
"accession": "DI-00299",
"synonyms": null,
"cross_references": "MeSH; D004832.",
"definition": "A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic- clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, childhood absence 5.",
"acronym": "ECA5.",
"accession": "DI-00300",
"synonyms": null,
"cross_references": "MeSH; D004832.",
"definition": "A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic- clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, childhood absence 6.",
"acronym": "ECA6.",
"accession": "DI-03307",
"synonyms": null,
"cross_references": "MeSH; D004832.",
"definition": "A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic- clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, early-onset, 2, with or without developmental delay.",
"acronym": "EPEO2.",
"accession": "DI-05807",
"synonyms": null,
"cross_references": "MeSH; D004830.",
"definition": "An autosomal dominant neurologic disorder characterized by early onset of generalized tonic-clonic seizures associated with sharp wave and sharp slow wave discharges on EEG. Some EPEO2 patients have normal psychomotor development and normal brain imaging, whereas others may show developmental delay associated with abnormalities on brain imaging. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, early-onset, 3, with or without developmental delay.",
"acronym": "EPEO3.",
"accession": "DI-06741",
"synonyms": null,
"cross_references": "MeSH; D004830.",
"definition": "An autosomal dominant neurologic disorder characterized by various types of seizures with onset in the first months or years of life. Many patients present with febrile seizures and later develop afebrile seizures. Some affected individuals have global developmental delay or regression, impaired intellectual development, poor or absent speech, and motor delay. Additional variable features include hypotonia, gait ataxia, behavioral abnormalities, and anomalies on brain imaging. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1DD.",
"acronym": "CMD1DD.",
"accession": "DI-02568",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1D.",
"acronym": "CMD1D.",
"accession": "DI-00213",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1CC.",
"acronym": "CMD1CC.",
"accession": "DI-02530",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1R.",
"acronym": "CMD1R.",
"accession": "DI-00223",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1BB.",
"acronym": "CMD1BB.",
"accession": "DI-02483",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1AA, with or without left ventricular non-compaction.",
"acronym": "CMD1AA.",
"accession": "DI-00211",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiofacioneurodevelopmental syndrome.",
"acronym": "CFNDS.",
"accession": "DI-05989",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, feeding difficulties, microcephaly and dysmorphic features. Additional features include cleft lip, cleft palate, variable cardiac defects, and abdominal situs inversus with asplenia. Brain imaging reveals cerebellar hypoplasia. ",
"keywords": "KW-1186:Ciliopathy.; "
},
{
"identifier": "Epilepsy, familial focal, with variable foci 2.",
"acronym": "FFEVF2.",
"accession": "DI-04832",
"synonyms": null,
"cross_references": "MeSH; D004828.",
"definition": "An autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy, frontal lobe epilepsy, and nocturnal frontal lobe epilepsy. Some patients may have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. A subset of patients have structural brain abnormalities. Penetrance of the disorder is incomplete. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, familial focal, with variable foci 3.",
"acronym": "FFEVF3.",
"accession": "DI-04831",
"synonyms": null,
"cross_references": "MeSH; D004828.",
"definition": "An autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy, frontal lobe epilepsy, and nocturnal frontal lobe epilepsy. Some patients may have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. A subset of patients have structural brain abnormalities. Penetrance of the disorder is incomplete. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, familial focal, with variable foci 4.",
"acronym": "FFEVF4.",
"accession": "DI-05229",
"synonyms": null,
"cross_references": "MeSH; D004828.",
"definition": "An autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy, frontal lobe epilepsy, and nocturnal frontal lobe epilepsy. Some patients may have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. A subset of patients have structural brain abnormalities. Penetrance of the disorder is incomplete. FFEVF4 is characterized by onset of focal seizures in the first years of life. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Cardiofaciocutaneous syndrome 4.",
"acronym": "CFC4.",
"accession": "DI-03781",
"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. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-0122:Cardiomyopathy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Epilepsy, familial temporal lobe, 5.",
"acronym": "ETL5.",
"accession": "DI-03336",
"synonyms": null,
"cross_references": "MeSH; D004833.",
"definition": "A focal form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, familial temporal lobe, 7.",
"acronym": "ETL7.",
"accession": "DI-04463",
"synonyms": null,
"cross_references": "MeSH; D004833.",
"definition": "A focal form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, familial temporal lobe, 8.",
"acronym": "ETL8.",
"accession": "DI-04482",
"synonyms": null,
"cross_references": "MeSH; D004833.",
"definition": "A focal form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature. ",
"keywords": "KW-0887:Epilepsy.; "
}
]
}