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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1900&ordering=synonyms",
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"results": [
{
"identifier": "Hyperlipidemia, familial combined, 1.",
"acronym": "FCHL1.",
"accession": "DI-02816",
"synonyms": "Familial combined hyperlipidemia type 1.; Hyperlipidemia combined, 1.; HYPLIP1.; ",
"cross_references": "MeSH; D006950.",
"definition": "A disorder characterized by a variable pattern of elevated levels of serum total cholesterol, triglycerides or both. It is observed in a percentage of individuals with premature coronary heart disease. ",
"keywords": null
},
{
"identifier": "Neuropathy, hereditary sensory and autonomic, 3.",
"acronym": "HSAN3.",
"accession": "DI-01566",
"synonyms": "Familial dysautonomia.; FD.; Hereditary sensory and autonomic neuropathy type III.; HSAN III.; HSN III.; Riley-Day syndrome.; ",
"cross_references": "MeSH; D004402.",
"definition": "A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN3 patients manifest a variety of symptoms such as alacrima, decreased taste, decreased sensitivity to pain and temperature, vasomotor instability, hypoactive or absent deep tendon reflexes, vomiting crises, and gastrointestinal dysfunction. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "
},
{
"identifier": "Congenital insensitivity to pain with anhidrosis.",
"acronym": "CIPA.",
"accession": "DI-01405",
"synonyms": "Familial dysautonomia, type II.; Hereditary sensory and autonomic neuropathy IV.; HSAN4.; HSAN IV.; Neuropathy, congenital sensory, with anhidrosis.; ",
"cross_references": "MedGen; C0020074.",
"definition": "Characterized by a congenital insensitivity to pain, anhidrosis (absence of sweating), absence of reaction to noxious stimuli, self- mutilating behavior, and intellectual disability. This rare autosomal recessive disorder is also known as congenital sensory neuropathy with anhidrosis or hereditary sensory and autonomic neuropathy type IV or familial dysautonomia type II. ",
"keywords": null
},
{
"identifier": "Leber hereditary optic neuropathy with dystonia.",
"acronym": "LDYT.",
"accession": "DI-00641",
"synonyms": "Familial dystonia with visual failure and striatal lucencies.; Leber optic atrophy and dystonia.; Marsden syndrome.; ",
"cross_references": "MeSH; D029242.",
"definition": "A form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. LDYT is characterized by the association of optic atrophy and central vision loss with dystonia. ",
"keywords": "KW-0429:Leber hereditary optic neuropathy.; KW-1023:Dystonia.; "
},
{
"identifier": "Encephalopathy, familial, with neuroserpin inclusion bodies.",
"acronym": "FENIB.",
"accession": "DI-01567",
"synonyms": "Familial encephalopathy with Collins bodies.; ",
"cross_references": "MeSH; D020271.",
"definition": "A neurodegenerative disease clinically characterized by dementia. Additional features include intellectual decline, psychic seizures, progressive myoclonic epilepsy, and cerebral atrophy. Histologically, it is characterized by the presence of eosinophilic inclusion bodies (called Collins bodies) throughout the deeper layers of the cerebral cortex, leading to neuronal death. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Epilepsy, nocturnal frontal lobe, 4.",
"acronym": "ENFL4.",
"accession": "DI-00821",
"synonyms": "Familial epilepsy with nocturnal wandering and ictal fear.; ",
"cross_references": "MeSH; D017034.",
"definition": "An autosomal dominant focal epilepsy characterized by nocturnal seizures associated with fear sensation, tongue movements, and nocturnal wandering, closely resembling nightmares and sleep walking. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Thyroid hormone resistance, generalized, autosomal dominant.",
"acronym": "GRTHD.",
"accession": "DI-01654",
"synonyms": "Familial euthyroid hyperthyroxinemia, secondary to pituitary and peripheral resistance to thyroid hormones.; GTHR.; Thyroid hormone unresponsiveness.; ",
"cross_references": "MeSH; D006981.",
"definition": "An autosomal dominant disease characterized by high levels of circulating thyroid hormones (T3-T4), goiter, abnormal mental functions, increased susceptibility to infections, abnormal growth and bone maturation, tachycardia and deafness. Affected individuals may also have attention deficit-hyperactivity disorders (ADHD) and language difficulties. Patients have normal or slightly elevated thyroid stimulating hormone (TSH). ",
"keywords": null
},
{
"identifier": "Febrile seizures, familial, 11.",
"acronym": "FEB11.",
"accession": "DI-03335",
"synonyms": "Familial febrile convulsions 11.; ",
"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. ",
"keywords": null
},
{
"identifier": "Febrile seizures, familial, 3B.",
"acronym": "FEB3B.",
"accession": "DI-02932",
"synonyms": "Familial febrile convulsions 3.; ",
"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. ",
"keywords": null
},
{
"identifier": "Febrile seizures, familial, 3A.",
"acronym": "FEB3A.",
"accession": "DI-00488",
"synonyms": "Familial febrile convulsions 3.; ",
"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. ",
"keywords": null
},
{
"identifier": "Febrile seizures, familial, 4.",
"acronym": "FEB4.",
"accession": "DI-00489",
"synonyms": "Familial febrile convulsions 4.; ",
"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. ",
"keywords": null
},
{
"identifier": "Febrile seizures, familial, 8.",
"acronym": "FEB8.",
"accession": "DI-00490",
"synonyms": "Familial febrile convulsions 8.; ",
"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. ",
"keywords": null
},
{
"identifier": "Glomerulopathy with fibronectin deposits 2.",
"acronym": "GFND2.",
"accession": "DI-01667",
"synonyms": "Familial glomerular nephritis with fibronectin deposits.; Fibronectin glomerulopathy.; ",
"cross_references": "MedGen; C1866075.",
"definition": "Genetically heterogeneous autosomal dominant disorder characterized clinically by proteinuria, microscopic hematuria, and hypertension that leads to end-stage renal failure in the second to fifth decade of life. ",
"keywords": null
},
{
"identifier": "Glucocorticoid deficiency 2.",
"acronym": "GCCD2.",
"accession": "DI-01670",
"synonyms": "Familial glucocorticoid deficiency 2.; FGD2.; ",
"cross_references": "MeSH; D000309.",
"definition": "A form of glucocorticoid deficiency, a rare autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements. ",
"keywords": null
},
{
"identifier": "Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency.",
"acronym": "GCCD4.",
"accession": "DI-03501",
"synonyms": "Familial glucocorticoid deficiency 4.; FGD4.; ",
"cross_references": "MeSH; D000309.",
"definition": "A form of glucocorticoid deficiency, a rare autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements. ",
"keywords": null
},
{
"identifier": "Aromatase excess syndrome.",
"acronym": "AEXS.",
"accession": "DI-01569",
"synonyms": "Familial gynecomastia.; Familial gynecomastia due to increased aromatase activity.; Hereditary gynecomastia.; Increased aromatase activity.; ",
"cross_references": "MeSH; D006177.",
"definition": "An autosomal dominant disorder characterized by increased extraglandular aromatization of steroids that presents with heterosexual precocity in males and isosexual precocity in females. ",
"keywords": null
},
{
"identifier": "Hypoalphalipoproteinemia, primary, 1.",
"acronym": "FHA1.",
"accession": "DI-01743",
"synonyms": "Familial HDL deficiency.; Familial hypoalphalipoproteinemia.; FHA.; FHD.; HDLD2.; High density lipoprotein deficiency 2.; ",
"cross_references": "MeSH; D052456.",
"definition": "An autosomal dominant disorder characterized by decreased plasma high density lipoproteins, moderately low HDL cholesterol, a reduction in cellular cholesterol efflux, and susceptibility to premature coronary artery disease. ",
"keywords": null
},
{
"identifier": "Gaze palsy, familial horizontal, with progressive scoliosis, 1.",
"acronym": "HGPPS1.",
"accession": "DI-01576",
"synonyms": "Familial horizontal gaze palsy with progressive scoliosis.; HGPPS.; ",
"cross_references": "MeSH; D015835.",
"definition": "An autosomal recessive neurologic disorder characterized by eye movement abnormalities apparent from birth, childhood-onset progressive scoliosis, distinctive brainstem malformation and defective crossing of some brainstem neuronal pathways. ",
"keywords": null
},
{
"identifier": "Hyperaldosteronism, familial, 3.",
"acronym": "HALD3.",
"accession": "DI-03198",
"synonyms": "Familial hyperaldosteronism 3.; Familial hyperaldosteronism type III.; FH3.; FH III.; FH type III.; ",
"cross_references": "MeSH; D006929.",
"definition": "A form of hyperaldosteronism characterized by hypertension secondary to massive adrenal mineralocorticoid production. HALD3 patients present with childhood hypertension, elevated aldosteronism levels, and high levels of the hybrid steroids 18-oxocortisol and 18- hydroxycortisol. Hypertension and aldosteronism are not reversed by administration of exogenous glucocorticoids and patients require adrenalectomy to control hypertension. ",
"keywords": null
},
{
"identifier": "Selective pituitary thyroid hormone resistance.",
"acronym": "PRTH.",
"accession": "DI-02294",
"synonyms": "Familial hyperthyroidism due to inappropriate thyrotropin secretion.; ",
"cross_references": "MedGen; C1840364.",
"definition": "Variant form of thyroid hormone resistance and is characterized by clinical hyperthyroidism, with elevated free thyroid hormones, but inappropriately normal serum TSH. Unlike GRTH, where the syndrome usually segregates with a dominant allele, the mode of inheritance in PRTH has not been established. ",
"keywords": null
}
]
}