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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4920&ordering=synonyms",
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"results": [
{
"identifier": "Dermatopathia pigmentosa reticularis.",
"acronym": "DPR.",
"accession": "DI-00388",
"synonyms": null,
"cross_references": "MeSH; D004476.",
"definition": "A rare ectodermal dysplasia characterized by lifelong persistent reticulate hyperpigmentation, non-cicatricial alopecia, and nail dystrophy. Variable features include adermatoglyphia, hypohidrosis or hyperhidrosis, and palmoplantar hyperkeratosis. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "DeSanto-Shinawi syndrome.",
"acronym": "DESSH.",
"accession": "DI-04620",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal dominant syndrome characterized by developmental delay, hypotonia, behavioral problems, eye abnormalities, constipation, feeding difficulties, seizures and sleep problems. Patients exhibit dysmorphic features, including broad/prominent forehead, synophrys and/or bushy eyebrows, depressed nasal bridge and bulbous nasal tip. Additional variable features are posteriorly rotated ears, hirsutism, deep-set eyes, thin upper lip, inverted nipples, hearing loss and branchial cleft anomalies. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, familial restrictive 3.",
"acronym": "RCM3.",
"accession": "DI-00247",
"synonyms": null,
"cross_references": "MeSH; D002313.",
"definition": "A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, familial restrictive 1.",
"acronym": "RCM1.",
"accession": "DI-00246",
"synonyms": null,
"cross_references": "MeSH; D002313.",
"definition": "A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 100.",
"acronym": "DEE100.",
"accession": "DI-06361",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE100 is an autosomal dominant, severe form characterized by global developmental delay and onset of variable types of seizures in the first months or years of life. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 101.",
"acronym": "DEE101.",
"accession": "DI-06373",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE101 is an autosomal recessive, severe form characterized by onset of seizures in early infancy. Death in infancy may occur. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 102.",
"acronym": "DEE102.",
"accession": "DI-06430",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE102 is an autosomal recessive form characterized by onset of variable types of seizures in infancy. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 103.",
"acronym": "DEE103.",
"accession": "DI-06431",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE103 is an autosomal dominant form characterized by onset of various types of seizures in the first year of life. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 104.",
"acronym": "DEE104.",
"accession": "DI-06457",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE104 is an autosomal dominant form characterized by onset of developmental delay and drug-resistant focal and generalized tonic-clonic seizures in the first few months of life. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 105 with hypopituitarism.",
"acronym": "DEE105.",
"accession": "DI-06474",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE105 is an autosomal recessive form characterized by onset of seizures in the first weeks or months of life. Affected individuals have hypopituitarism in association with profoundly impaired development with almost no acquisition of skills, brain atrophy, thin corpus callosum, and small pituitary gland. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 106.",
"acronym": "DEE106.",
"accession": "DI-06501",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE106 is an autosomal recessive form characterized by onset of seizures in the first year of life. Affected individuals have profound global developmental delay, limited ability to move, and severely impaired intellectual development with absent speech. Non- specific brain abnormalities may be observed on MRI. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 107.",
"acronym": "DEE107.",
"accession": "DI-06502",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE107 is an autosomal recessive form characterized by onset of seizures in the first months of life. Affected individuals have severe global developmental delay, profound intellectual disability, progressive microcephaly, and hypotonia. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 108.",
"acronym": "DEE108.",
"accession": "DI-06547",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE108 is an autosomal dominant form characterized by the onset of multiple types of seizures in the first 2 years of life. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 109.",
"acronym": "DEE109.",
"accession": "DI-06557",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE109 is an autosomal dominant form characterized by the onset of various types of seizures in the first months or years of life. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Cardiomyopathy, familial hypertrophic, 9.",
"acronym": "CMH9.",
"accession": "DI-00239",
"synonyms": null,
"cross_references": "MeSH; D024741.",
"definition": "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 110.",
"acronym": "DEE110.",
"accession": "DI-06558",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE110 is an autosomal recessive form characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 111.",
"acronym": "DEE111.",
"accession": "DI-06760",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE111 is an autosomal recessive form characterized by the onset of seizures in the first days, months, or years of life. Brain imaging shows frontal, parietal, and perisylvian polymicrogyria, dysmorphic basal ganglia and corpus callosum, and hypoplastic pons. Death in early childhood may occur. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 112.",
"acronym": "DEE112.",
"accession": "DI-06775",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE112 is an autosomal dominant form characterized by onset in infancy, and a wide range of seizure types including focal and generalized seizures. Cognitive outcomes range from normal intellect to profound intellectual development impairment. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 113.",
"acronym": "DEE113.",
"accession": "DI-06871",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE113 is an autosomal recessive form characterized by severe early-onset recurrent epilepsy. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 114.",
"acronym": "DEE114.",
"accession": "DI-06866",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE114 is an autosomal dominant form characterized by moderate-to-severe intellectual disability, onset of epilepsy within the first 18 months of life, and a choreiform, dystonic or dyskinetic movement disorder. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
}
]
}