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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2240&ordering=-synonyms",
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"results": [
{
"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": "Anauxetic dysplasia 2.",
"acronym": "ANXD2.",
"accession": "DI-04972",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "An autosomal recessive spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"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.; "
},
{
"identifier": "Agenesis of corpus callosum, cardiac, ocular, and genital syndrome.",
"acronym": "ACOGS.",
"accession": "DI-05864",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant, syndromic neurodevelopmental disorder characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, mirror movements, dysmorphic features, and ocular, cardiac, and genital anomalies. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Ciliary dyskinesia, primary, 24.",
"acronym": "CILD24.",
"accession": "DI-03916",
"synonyms": null,
"cross_references": "MeSH; D002925.",
"definition": "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Situs inversus is not observed in CILD24 patients. ",
"keywords": "KW-0990:Primary ciliary dyskinesia.; "
},
{
"identifier": "Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis.",
"acronym": "EPIDACH.",
"accession": "DI-01540",
"synonyms": null,
"cross_references": "MedGen; C2675184.",
"definition": "Patients present with pancreatic insufficiency, intestinal malabsorption, failure to thrive, and anemia soon after birth. ",
"keywords": null
},
{
"identifier": "Anauxetic dysplasia 3.",
"acronym": "ANXD3.",
"accession": "DI-05799",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "An autosomal recessive skeletal dysplasia characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility and dislocations, short metacarpals, broad middle phalanges, and metaphyseal irregularities. Most patients also exhibit motor and cognitive delays. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Nephrotic syndrome 18.",
"acronym": "NPHS18.",
"accession": "DI-05379",
"synonyms": null,
"cross_references": "MeSH; D009404.",
"definition": "A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS18 is an autosomal recessive, steroid-resistant progressive form with onset in the first decade of life. ",
"keywords": null
},
{
"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": "Intellectual developmental disorder with autistic features and language delay, with or without seizures.",
"acronym": "IDDALDS.",
"accession": "DI-05852",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, varying degrees of intellectual disability, autism spectrum disorder, and delayed language. Some patients develop seizures. ",
"keywords": "KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies.",
"acronym": "NMIHBA.",
"accession": "DI-05004",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental and degenerative disorder characterized by primary microcephaly, profound global developmental delay, and severe intellectual disability. Additional clinical features include dysmorphic features, truncal hypotonia, peripheral spasticity, and lack of independent ambulation or speech acquisition. Brain imaging shows cortical atrophy, thin corpus callosum, cerebellar hypoplasia, and delayed myelination. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0905:Primary microcephaly.; KW-0991:Intellectual disability.; "
}
]
}