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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2220&ordering=-synonyms",
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"results": [
{
"identifier": "Epilepsy, progressive myoclonic 9.",
"acronym": "EPM9.",
"accession": "DI-04510",
"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. EPM9 is an autosomal recessive form characterized by myoclonus, tonic-clonic seizures, ataxia, and delayed psychomotor development. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; "
},
{
"identifier": "Familial apolipoprotein gene cluster deletion syndrome.",
"acronym": "FAPLDS.",
"accession": "DI-06511",
"synonyms": null,
"cross_references": "MeSH; D000012.",
"definition": "An autosomal dominant disorder of lipoprotein metabolism. Affected individuals do not produce ApoA-I, ApoC-III and ApoA-IV lipoproteins, have marked plasma high density lipoprotein (HDL) deficiency, and manifest premature atherosclerosis and coronary artery disease. ",
"keywords": null
},
{
"identifier": "Epidermolytic hyperkeratosis 2A.",
"acronym": "EHK2A.",
"accession": "DI-06671",
"synonyms": null,
"cross_references": "MeSH; D017488.",
"definition": "An autosomal dominant form of epidermolytic hyperkeratosis, a skin disorder characterized by widespread blistering and an ichthyotic erythroderma at birth that persist into adulthood. Histologically there is a diffuse epidermolytic degeneration in the lower spinous layer of the epidermis. Within a few weeks from birth, erythroderma and blister formation diminish and hyperkeratoses develop. EHK2 inheritance is autosomal dominant or autosomal recessive. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Epidermolytic hyperkeratosis 2B, autosomal recessive.",
"acronym": "EHK2B.",
"accession": "DI-06837",
"synonyms": null,
"cross_references": "MeSH; D017488.",
"definition": "An autosomal recessive form of epidermolytic hyperkeratosis, a skin disorder characterized by widespread blistering and an ichthyotic erythroderma at birth that persist into adulthood. Histologically there is a diffuse epidermolytic degeneration in the lower spinous layer of the epidermis. Within a few weeks from birth, erythroderma and blister formation diminish and hyperkeratoses develop. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"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": "Hypothyroidism, congenital, non-goitrous, 5.",
"acronym": "CHNG5.",
"accession": "DI-01404",
"synonyms": null,
"cross_references": "MeSH; D003409.",
"definition": "A non-autoimmune condition characterized by resistance to thyroid- stimulating hormone (TSH) leading to increased levels of plasma TSH and low levels of thyroid hormone. CHNG5 presents variable severity depending on the completeness of the defect. Most patients are euthyroid and asymptomatic, with a normal sized thyroid gland. Only a subset of patients develop hypothyroidism and present a hypoplastic thyroid gland. ",
"keywords": "KW-0984:Congenital hypothyroidism.; "
},
{
"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": "Glomuvenous malformations.",
"acronym": "GVMs.",
"accession": "DI-01668",
"synonyms": null,
"cross_references": "MedGen; C1841984.",
"definition": "Characterized by the presence of smooth-muscle-like glomus cells in the media surrounding distended vascular lumens. ",
"keywords": null
},
{
"identifier": "Lymphatic malformation 11.",
"acronym": "LMPHM11.",
"accession": "DI-06136",
"synonyms": null,
"cross_references": "MeSH; D008209.",
"definition": "A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM11 is an autosomal dominant form characterized by onset of lower extremity edema in the second or third decade of life. Some affected individuals may have subclinical lymphatic malformations. ",
"keywords": null
},
{
"identifier": "Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies.",
"acronym": "GDACCF.",
"accession": "DI-04903",
"synonyms": null,
"cross_references": "MeSH; D002658.",
"definition": "An autosomal dominant syndrome characterized by underdevelopment of the corpus callosum, mild to moderate developmental delay and intellectual disability, variable microcephaly or mild macrocephaly, short stature, feeding problems, facial dysmorphisms, and cardiac and renal malformations. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Analbuminemia.",
"acronym": "ANALBA.",
"accession": "DI-04235",
"synonyms": null,
"cross_references": "MeSH; D034141.",
"definition": "A rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin. Affected individuals manifest mild edema, hypotension, fatigue, and, occasionally, lower body lipodystrophy (mainly in adult females). The most common biochemical finding is hyperlipidemia, with a significant increase in the total and LDL cholesterol concentrations, but normal concentrations of HDL cholesterol and triglycerides. ",
"keywords": null
},
{
"identifier": "Erythrocytosis, familial, 5.",
"acronym": "ECYT5.",
"accession": "DI-05215",
"synonyms": null,
"cross_references": "MeSH; D011086.",
"definition": "An autosomal dominant disorder characterized by elevated serum hemoglobin and hematocrit. Some patients have increased serum erythropoietin levels. ",
"keywords": "KW-0985:Congenital erythrocytosis.; "
},
{
"identifier": "Fructosuria.",
"acronym": "FRUCT.",
"accession": "DI-01635",
"synonyms": null,
"cross_references": "MedGen; C0268160.",
"definition": "Benign defect of intermediary metabolism. ",
"keywords": null
},
{
"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": "Febrile seizures, familial, 2.",
"acronym": "FEB2.",
"accession": "DI-06236",
"synonyms": null,
"cross_references": "MeSH; D003294.",
"definition": "Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. FEB2 transmission pattern is consistent with autosomal dominant inheritance. ",
"keywords": null
},
{
"identifier": "Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies.",
"acronym": "NEDITPO.",
"accession": "DI-06480",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by characterized by mild to moderate intellectual disability, dysmorphic facial features, intention tremor, dyspraxia, and vertical strabismus. ",
"keywords": "KW-0991:Intellectual disability.; "
}
]
}